Neuigkeiten & Veröffentlichungen

Mary E. Carter, Alessia Benegiamo-Chilla, Linus D. Kloker, Nikolas Paulsen, Vlatko Potkrajcic, Frank Paulsen, Attila Nemeth, Volker Steger, Martin Schulze, Saskia Biskup, Katrin Benzler, Stephan Singer, Ulrich M. Lauer, Lars Zender, Christoph K. W. Deinzer
Case report: Pulmonary Ewing sarcoma disguised as non-small cell lung cancer
DOI: 10.3389/fonc.2024.1449119

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Pauline Latzer, Henning Zelba, Florian Battke, Annekathrin Reinhardt, Borong Shao, Oliver Bartsch, Armin Rabsteyn, Johannes Harter, Martin Schulze, Thomas Okech, Alexander Golf, Christina Kyzirakos-Feger, Simone Kayser, Natalia Pieper, Magdalena Feldhahn, Julian Wünsche, Christian Seitz, Dirk Hadaschik, Claus Garbe, Till-Karsten Hauser, Christian la Fougère, Dirk Biskup, Dawn Brooke, David Parker, Uwe M Martens, Gerald Illerhaus, Deborah T Blumenthal, Ryan Merrell, Luisa Sánchez Lorenzo, Máté Hidvégi, Paula de Robles, Sied Kebir, William W Li, Vincent W Li, Matthew Williams, Alexandra M Miller, Santosh Kesari, Michael Castro, Annick Desjardins, David M Ashley, Henry S Friedman, Patrick Y Wen, Elisabeth C Neil, Fabio M Iwamoto, Bence Sipos, Karsten Geletneky, Lars Zender, Martin Glas, David A Reardon, Saskia Biskup
A real-world observation of patients with glioblastoma treated with a personalized peptide vaccine
PMID: 39127809 DOI: 10.1038/s41467-024-51315-8

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Anne S Schmitz, Janani Raju, Wolfgang Köhler, Stephan Klebe, Khaled Cheheb, Franziska Reschke, Saskia Biskup, Tobias B Haack, Benjamin Roeben, Melanie Kellner, Nils Rahner, Thomas Bloch, Johannes Lemke, Benjamin Bender, Ludger Schöls, Holger Hengel, Stefanie N Hayer
Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)
PMID: 39031193 DOI: 10.1007/s00415-024-12557-0

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Vrinda Venu, Enni Harjunmaa, Andreea Dreau, Shannon Brady, Devin Absher, David M Kingsley, Felicity C Jones
Fine-scale contemporary recombination variation and its fitness consequences in adaptively diverging stickleback fish
PMID: 38839849 DOI: 10.1038/s41559-024-02434-4

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Saskia B Wortmann, Rene G Feichtinger, Lucia Abela, Loes A van Gemert, Mélodie Aubart, Claire-Marine Dufeu-Berat, Nathalie Boddaert, Rene de Coo, Lara Stühn, Jasmijn Hebbink, Wolfram Heinritz, Julia Hildebrandt, Nastassja Himmelreich, Christoph Korenke, Anna Lehman, Thomas Leyland, Christine Makowski, Rafael Jenaro Martinez Marin, Pauline Marzin, Chris Mühlhausen, Marlène Rio, Agnes Rotig, Charles-Joris Roux, Manuel Schiff, Tobias B Haack, Steffen Syrbe, Stas A Zylicz, Christian Thiel, Maria Veiga da Cunha, Emile van Schaftingen, Matias Wagner, Johannes A Mayr, Ron A Wevers, Eugen Boltshauser, Michel A Willemsen
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants
PMID: 38617198 DOI: 10.1212/NXG.0000000000200146

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Henning Zelba, Christina Kyzirakos, Simone Kayser, Borong Shao, Annekathrin Reinhardt, Natalia Pieper, Armin Rabsteyn, Dennis Döcker, Sorin Armeanu-Ebinger, Matthias Kloor, Dirk Hadaschik, Martin Schulze, Florian Battke, Alexander Golf, Saskia Biskup
Case Report: Long-Term Survival of a Patient with Cerebral Metastasized Ovarian Carcinoma Treated with a Personalized Peptide Vaccine and Anti-PD-1 Therapy
PMID: 38675779 DOI: 10.3390/vaccines12040397

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Samin A Sajan, Ralph Gradisch, Florian D Vogel, Alison J Coffey, Daria Salyakina, Diana Soler, Parul Jayakar, Anuj Jayakar, Simona E Bianconi, Annina H Cooper, Shuxi Liu, Nancy William, Ira Benkel-Herrenbrück, Robert Maiwald, Corina Heller, Saskia Biskup, Steffen Leiz, Dominik S Westphal, Matias Wagner, Amy Clarke, Thomas Stockner, Margot Ernst, Akanchha Kesari, Martin Krenn
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy
PMID: 38565639 DOI: 10.1038/s41431-024-01600-3

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Stefan Zwirner, Anan A Abu Rmilah, Sabrina Klotz, Bent Pfaffenroth, Philip Kloevekorn, Athina A Moschopoulou, Svenja Schuette, Mathias Haag, Roland Selig, Kewei Li, Wei Zhou, Erek Nelson, Antti Poso, Harvey Chen, Bruce Amiot, Yao Jia, Anna Minshew, Gregory Michalak, Wei Cui, Elke Rist, Thomas Longerich, Birgit Jung, Philipp Felgendreff, Omelyan Trompak, Prem K Premsrirut, Katharina Gries, Thomas E Muerdter, Georg Heinkele, Torsten Wuestefeld, David Shapiro, Markus Weissbach, Alfred Koenigsrainer, Bence Sipos, Eiso Ab, Magdalena Ortiz Zacarias, Stephan Theisgen, Nicole Gruenheit, Saskia Biskup, Matthias Schwab, Wolfgang Albrecht, Stefan Laufer, Scott Nyberg, Lars Zender
First-in-class MKK4 inhibitors enhance liver regeneration and prevent liver failure
PMID: 38490194 DOI: 10.1016/j.cell.2024.02.023

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Kelly Schoch, Mischa S G Ruegg, Bridget J Fellows, Joseph Cao, Sabine Uhrig, Stephanie Einsele-Scholz, Saskia Biskup, Samuel R A Hawarden, Vincenzo Salpietro, Valeria Capra; Undiagnosed Diseases Network; Chris M Brown, Andrea Accogli, Vandana Shashi, Louise S Bicknell
A second hotspot for pathogenic exon-skipping variants in CDC45
PMID: 38467731 DOI: 10.1038/s41431-024-01583-1

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Stephan Spahn, Fabian Kleinhenz, Ekaterina Shevchenko, Aaron Stahl, Yvonne Rasen, Christine Geisler, Kristina Ruhm, Marion Klaumuenzer, Thales Kronenberger, Stefan A Laufer, Holly Sundberg-Malek, Khac Cuong Bui, Marius Horger, Saskia Biskup, Klaus Schulze-Osthoff, Markus Templin, Nisar P Malek, Antti Poso, Michael Bitzer
The molecular interaction pattern of lenvatinib enables inhibition of wild-type or kinase-mutated FGFR2-driven cholangiocarcinoma
PMID: 38346946 DOI: 10.1038/s41467-024-45247-6

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Morad Ansari, Kamli N W Faour, Akiko Shimamura, Graeme Grimes, Emeline M Kao, Erica R Denhoff, Ana Blatnik, Daniel Ben-Isvy, Lily Wang, Benjamin M Helm, Helen Firth, Amy M Breman, Emilia K Bijlsma, Aiko Iwata-Otsubo, Thomy J L de Ravel, Vincent Fusaro, Alan Fryer, Keith Nykamp, Lara G Stühn, Tobias B Haack, G Christoph Korenke, Panayiotis Constantinou, Kinga M Bujakowska, Karen J Low, Emily Place, Jennifer Humberson, Melanie P Napier, Jessica Hoffman, Jane Juusola, Matthew A Deardorff, Wanqing Shao, Shira Rockowitz, Ian Krantz, Maninder Kaur, Sarah Raible, Victoria Dortenzio, Sabine Kliesch, Moriel Singer-Berk, Emily Groopman, Stephanie DiTroia, Sonia Ballal, Siddharth Srivastava, Kathrin Rothfelder, Saskia Biskup, Jessica Rzasa, Jennifer Kerkhof, Haley McConkey, Bekim Sadikovic, Sarah Hilton, Siddharth Banka, Frank Tüttelmann, Donald Conrad, Anne O’Donnell-Luria, Michael E Talkowski, David R FitzPatrick, Philip M Boone
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features
PMID: 38297832 DOI: 10.1016/j.xhgg.2024.100273

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Julien H Park, Ulrike Och, Tim Braun, Matthias F Kriegel, Saskia Biskup, Herbert Korall, Constantin E Uhlig, Thorsten Marquardt
Treatment of AICA ribosiduria by suppression of de novo purine synthesis
PMID: 38244287 DOI: 10.1016/j.ymgme.2023.108124

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Anne Rensing-Ehl, Myriam Ricarda Lorenz, Marita Führer, Wolfgang Willenbacher, Ella Willenbacher, Sieghart Sopper, Mario Abinun, Maria Elena Maccari, Christoph König, Pauline Haegele, Sebastian Fuchs, Carla Castro, Patrick Kury, Olivier Pelle, Christian Klemann, Maximilian Heeg, Julian Thalhammer, Oliver Wegehaupt, Marco Fischer, Sigune Goldacker, Björn Schulte, Saskia Biskup, Philippe Chatelain, Volker Schuster, Klaus Warnatz, Bodo Grimbacher, Andrea Meinhardt, Dirk Holzinger, Prasad Thomas Oommen, Tanja Hinze, Holger Hebart, Karlheinz Seeger, Kai Lehmberg, Timothy Ronan Leahy, Alexander Claviez, Simon Vieth, Freimut H Schilling, Ilka Fuchs, Miriam Groß, Frederic Rieux-Laucat, Aude Magerus, Carsten Speckmann, Klaus Schwarz, Stephan Ehl; ALPS study group: Ales Janda, Arnulf Pekrun, Bernd Buchholz, Catharina Schuetz, Charlotte M Niemeyer, Claas Hinze, Fabian Hauck, Carl Friedrich Classen, Gregor Dückers, Hedwig E Deubzer, Helmut Wittkowski, Henner Morbach, Horst von Bernuth, Jörg Leyh, Kaan Botzug, Kathrin Siepermann, Leo Kager, Linnea Schuez-Havupalo, Luis Ignacio Gonzalez Granado, Luis M Allende, Markus G Seidel, Martina Stiefel, Michael Albert, Nora Naumann-Bartsch, Peter Svec, Petr Smisek, Roman Crazzolara, Rosie Hague, Shahrzad Bakhtiar, Simone Storck, Sophie Hambleton, Stefan Schönberger, Thomas Kühne, Ulrich Baumann
Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing
PMID: 37979702 DOI: 10.1016/j.jaci.2023.11.006

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Michael P Castro, Bence Sipos, Saskia Biskup, Nina Kahn
Network-targeting combination therapy of leptomeningeal glioblastoma using multiple synthetic lethal strategies: a case report
PMID: 38023264 DOI: 10.3389/fonc.2023.1210224

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Johannes Harter, Eleonora Buth, Janina Johaenning, Florian Battke, Maria Kopp, Henning Zelba, Martin Schulze, Jiri Koedding, Saskia Biskup
Analytical performance evaluation of a 523-gene ctDNA assay for next generation sequencing-based comprehensive tumor profiling in liquid biopsy samples
PMID: 37865292 DOI: 10.1016/j.jmoldx.2023.10.001

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Jule Ayran, Carsten Köhler, Le Thi K. Linh, Gisela Schneider, Srinivas Reddy Pallerla, Florian Battke, Lisa Federle, Peter Martus, Peter G. Kremsner, Thirumalaisamy P. Velavan
Tübingen model study: Large-scale introduction of rapid antigen testing in the population and the viral dynamics of SARS-CoV-2
DOI: 10.3389/fpubh.2023.1159622

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Henning Zelba, Armin Rabsteyn, Oliver Bartsch, Christina Kyzirakos, Simone Kayser, Marcel Seibold, Johannes Harter, Pauline Latzer, Dirk Hadaschik, Florian Battke, Alexander Golf, Matthew B. Rettig, Saskia Biskup
Case Report: Targeting of individual somatic tumor mutations by multipeptide vaccination tailored for HLA class I and II presentation induces strong CD4 and CD8 T-cell responses in a patient with metastatic castration sensitive prostate cancer
DOI: 10.3389/fimmu.2023.1271449

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Andrea Accogli, Sheng-Jia Lin, Mariasavina Severino, Sung-Hoon Kim, Kevin Huang, Clarissa Rocca, Megan Landsverk, Maha Zaki, Almundher Al-Maawali, Varunvenkat M Srinivasan, Khalid Al-Thihli, G Bradly Schaefer, Monica Davis, Davide Tonduti, Chiara Doneda, Lara M Marten, Chris Mühlhausen, Maria Gomez, Eleonora Lamantea, Rafael Mena, Mathilde Nizon, Vincent Procaccio, Amber Begtrup, Aida Telegrafi, Hong Cui, Heidi L Schulz, Julia Mohr, Saskia Biskup, Mariana Amina Loos, Hilda Verónica Aráoz, Vincenzo Salpietro, Laura Davis Keppen 6, Manali Chitre, Cassidy Petree, Lucy Raymond, Julie Vogt, Lindsey B Swayer, Alice A Basinger, Signe Vandal Pedersen, Toni S Pearson, Dorothy K Grange, Lokesh Lingapp, Paige McDunnah, Rita Horvath, Benjamin Cogne, Bertrand Isidor, Andreas Hahn, Karen Gripp, Seyed Mehdi Jafarnejad, Elsebet Ostergaard, Carlos E Prada, Daniele Ghezzi, Vykuntaraju K Gowda, Robert W Taylor, Nahum Sonenberg, Henry Houlden, Marie Sissler, Gaurav K Varshney, Reza Maroofian
Clinical, neuroradiological and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
PMID: 37454282 DOI: 10.1016/j.gim.2023.100938

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Claire Cannet, Allan Bayat, Georg Frauendienst-Egger, Peter Freisinger, Manfred Spraul, Nastassja Himmelreich, Musa Kockaya, Kirsten Ahring, Markus Godejohann, Anita MacDonald, Friedrich Trefz
Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo 1H-NMR Analysis
PMID: 37446577 DOI: 10.3390/molecules28134916

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Anke Tropitzsch, Thore Schade-Mann, Philipp Gamerdinger, Saskia Dofek, Björn Schulte, Martin Schulze, Sarah Fehr, Saskia Biskup, Tobias B Haack, Petra Stöbe, Andreas Heyd, Jennifer Harre, Anke Lesinski-Schiedat, Andreas Büchner, Thomas Lenarz, Athanasia Warnecke, Marcus Müller, Barbara Vona, Ernst Dahlhoff, Hubert Löwenheim, Martin Holderried
Variability in Cochlear Implantation Outcomes in a Large German Cohort With a Genetic Etiology of Hearing Loss
PMID: 37438890 DOI: 10.1097/AUD.0000000000001386

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Hossein Daghagh, Haniyeh Rahbar Kafshboran, Yousef Daneshmandpour, Maryam Nasiri Aghdam, Shahrzad Talebian, Jafar Nouri Nojadeh, Hamid Hamzeiy, Saskia Biskup, Ebrahim Sakhinia
Homozygous mutation in CSF1R causes brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS)
PMID: 37431483 DOI: 10.34172/bi.2022.23528

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Linnaeus Bundalian, Yin-Yuan Su, Siwei Chen, Akhil Velluva, Anna Sophia Kirstein, Antje Garten, Saskia Biskup, Florian Battke, Dennis Lal, Henrike O Heyne, Konrad Platzer, Chen-Ching Lin, Johannes R Lemke, Diana Le Duc; Epi25 Collaborative
Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population
PMID: 37369202 DOI: 10.1016/j.ajhg.2023.06.004

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Fabian Maass, Ala Jamous, Saskia Biskup, Hanna Eisenberg, Zara D’Hedouville, Mathias Bähr, Christoph van Riesen
Spinocerebellar Ataxia Type 35 Caused by a New TGM6 Variant: Video Documentation of a German Family
PMID: 37332650 DOI: 10.1002/mdc3.13717

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Gesa Trieschmann, Christian Wilhelm, Steffen Berweck, Michael Zech
De novo retinoic acid receptor beta (RARB) variant associated with microphthalmia and dystonia
PMID: 37321544 DOI: 10.1016/j.ejmg.2023.104802

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Aleksandra Szczawińska-Popłonyk, Natalia Popłonyk, Magdalena Badura-Stronka, Jerome Juengling, Kerstin Huhn, Saskia Biskup, Bartłomiej Bancerz, Jarosław Walkowiak
The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case report
PMID: 37347054 DOI: 10.3389/fgene.2023.1108852

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Caner Bağcı, Benjamin Albrecht, Daniel H Huson
MAIRA: Protein-based Analysis of MinION Reads on a Laptop
PMID: 37258865 DOI: 10.1007/978-1-0716-3072-3_11

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Daniel G Calame, Cristina Moreno Vadillo, Seth Berger, Timothy Lotze, Marwan Shinawi, Javaher Poupak, Corina Heller, Julie Cohen, Richard Person 12, Aida Telegrafi, Chalongchai Phitsanuwong, Kaylene Fiala, Isabelle Thiffault, Florencia Del Viso, Dihong Zhou, Emily A Fleming, Tomi Pastinen, Ali Fatemi, Sruthi Thomas, Samuel I Pascual, Rosa J Torres, Carmen Prior, Clara Gómez-González, Saskia Biskup, James R Lupski, Dragan Maric, Miguel Holmgren, Debra Regier, Sho T Yano
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability
PMID: 37043503 DOI: 10.1093/brain/awad124

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Ke Mao, Christelle Borel, Muhammad Ansar, Angad Jolly, Periklis Makrythanasis, Christine Froehlich, Justyna Iwaszkiewicz, Bingqing Wang, Xiaopeng Xu, Qiang Li, Xavier Blanc, Hao Zhu, Qi Chen, Fujun Jin, Harinarayana Ankamreddy, Sunita Singh, Hongyuan Zhang, Xiaogang Wang, Peiwei Chen, Emmanuelle Ranza, Sohail Aziz Paracha, Syed Fahim Shah, Valentina Guida, Francesca Piceci-Sparascio, Daniela Melis, Bruno Dallapiccola, Maria Cristina Digilio, Antonio Novelli, Monia Magliozzi, Maria Teresa Fadda, Haley Streff, Keren Machol, Richard A Lewis, Vincent Zoete, Gabriella Maria Squeo, Paolo Prontera, Giorgia Mancano, Giulia Gori, Milena Mariani, Angelo Selicorni, Stavroula Psoni, Helen Fryssira, Sofia Douzgou, Sandrine Marlin, Saskia Biskup, Alessandro De Luca, Giuseppe Merla, Shouqin Zhao, Timothy C Cox, Andrew K Groves, James R Lupski, Qingguo Zhang, Yong-Biao Zhang, Stylianos E Antonarakis
FOXI3 pathogenic variants cause one form of craniofacial microsomia
PMID: 37041148 DOI: 10.1038/s41467-023-37703-6

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Mirjam Renovanz, Sylvia C Kurz, Johannes Rieger, Bianca Walter, Hannes Becker, Hanni Hille, Paula Bombach, David Rieger, Lucia Grosse, Lara Häusser, Marco Skardelly, Daniel J Merk, Frank Paulsen, Elgin Hoffmann, Cihan Gani, Manuela Neumann, Rudi Beschorner, Olaf Rieß, Cristiana Roggia, Christopher Schroeder, Stephan Ossowski, Sorin Armeanu-Ebinger, Axel Gschwind, Saskia Biskup, Martin Schulze, Falko Fend, Stephan Singer, Lars Zender, Claudia Lengerke, Sara Yvonne Brucker, Tobias Engler, Andrea Forschner, Arnulf Stenzl, Oliver Kohlbacher, Sven Nahnsen, Gisela Gabernet, Sven Fillinger, Benjamin Bender, Ulrike Ernemann, Öznur Öner, Janina Beha, Holly Sundberg Malek, Yvonne Möller, Kristina Ruhm, Marcos Tatagiba, Jens Schittenhelm, Michael Bitzer, Nisar Malek, Daniel Zips, Ghazaleh Tabatabai
Clinical outcome of biomarker-guided therapies in adult patients with tumors of the nervous system
PMID: 36915613 DOI: 10.1093/noajnl/vdad012

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Linnaeus Bundalian, Yin-Yuan Su, Siwei Chen, Akhil Velluva, Anna Sophia Kirstein, Antje Garten, Saskia Biskup, Florian Battke, Dennis Lal, Henrike O Heyne, Konrad Platzer, Chen-Ching Lin, Johannes R Lemke, Diana Le Duc; Epi25 Collaborative
The role of rare genetic variants enrichment in epilepsies of presumed genetic etiology
PMID: 36974069 PMCID: PMC10041669 DOI: 10.1101/2023.01.17.23284702

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Claire Cannet, Georg Frauendienst-Egger, Peter Freisinger, Hermann Götz, Madalina Götz, Nastassja Himmelreich, Vanessa Kock, Manfred Spraul, Christine Bus, Saskia Biskup, Friedrich Trefz
Ex vivo proton spectroscopy (1 H-NMR) analysis of inborn errors of metabolism: Automatic and computer-assisted analyses
PMID: 36264537 DOI: 10.1002/nbm.4853

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Abhishek Kumar, Volha Skrahina, Joshua Atta, Veronika Boettchere, Nicola Hanige, Arndt Rolfs, Gabriela Oprea, Najim Ameziane
Microbial contamination and composition of oral samples subjected to clinical whole genome sequencing
PMID: 36824435 DOI: 10.3389/fgene.2023.1081424

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Moritz Schmidt, Sven Mattern, Stephan Singer, Martin Schulze, Saskia Biskup, Patrick Krumm, Ulrich M Lauer, Lars Zender, Clemens Hinterleitner, Martina Hinterleitner
NOTCH3 missense mutations as predictor of long-term response to gemcitabine in a patient with epithelioid hemangioendothelioma
PMID: 36749424 DOI: 10.1007/s00432-023-04598-1

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Martin A Mensah, Henri Niskanen, Alexandre P Magalhaes, Shaon Basu, Martin Kircher, Henrike L Sczakiel, Alisa M V Reiter, Jonas Elsner, Peter Meinecke, Saskia Biskup, Brian H Y Chung, Gregor Dombrowsky, Christel Eckmann-Scholz, Marc Phillip Hitz, Alexander Hoischen, Paul-Martin Holterhus 15, Wiebke Hülsemann, Kimia Kahrizi , Vera M Kalscheuer , Anita Kan , Mandy Krumbiegel, Ingo Kurth, Jonas Leubner, Ann Carolin Longardt, Jörg D Moritz, Hossein Najmabadi, Karolina Skipalova, Lot Snijders Blok, Andreas Tzschach, Eberhard Wiedersberg, Martin Zenker, Carla Garcia-Cabau, René Buschow, Xavier Salvatella, Matthew L Kraushar, Stefan Mundlos, Almuth Caliebe, Malte Spielmann, Denise Horn, Denes Hnisz
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases
PMID: 36755093 DOI: 10.1038/s41586-022-05682-1

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Jan-Philipp Bodenbender, Valerio Marino, Leon Bethge, Katarina Stingl, Tobias B Haack, Saskia Biskup, Susanne Kohl, Laura Kühlewein, Daniele Dell’Orco, Nicole Weisschuh
Biallelic variants in TULP1 are associated with heterogeneous phenotypes of retinal dystrophy
PMID: 36769033 DOI: 10.3390/ijms24032709

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Julien H Park, Ulrika Nordström, Konstantinos Tsiakas, Isil Keskin, Christiane Elpers, Manoj Mannil, Raoul Heller, Melinda Nolan, Salam Alburaiky, Per Zetterström, Maja Hempel, Ulrike Schara-Schmidt, Saskia Biskup, Petra Steinacker, Markus Otto, Jochen Weishaupt, Andreas Hahn, René Santer, Thorsten Marquardt, Stefan L Markl, Peter M Andersen
The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1
PMID: 36793789 DOI: 10.1093/braincomms/fcad017

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Ewelina Bukowska-Olech, Filip Glista, April Dinwiddie, Alexander Pepler, Aleksander Jamsheer
Rare multiple congenital anomalies-hypotonia-seizures syndrome type 1 (MCAHS1) – the clinical and molecular summary
PMID: 36384198 DOI: 10.1016/j.ejmg.2022.104668

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Susanne A Schneider, Christine Mueller, Saskia Biskup, Urban M Fietzek, Andreas Sebastian Schroeder
Neurodevelopmental disorder with dystonia due to SOX6 mutations
PMID: 36069193 DOI: 10.1002/mgg3.2051

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Julia Schmidt, Steffi Dreha-Kulaczewski, Maria-Patapia Zafeiriou, Marie-Kristin Schreiber, Bernd Wilken, Rudolf Funke, Christiane M Neuhofer, Janine Altmüller, Holger Thiele, Peter Nürnberg, Saskia Biskup, Yun Li, Wolfram Hubertus Zimmermann, Silke Kaulfuß, Gökhan Yigit, Bernd Wollnik
Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum
PMID: 36467423 DOI: 10.3389/fcell.2022.1025332

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Henning Zelba, Alex McQueeney, Armin Rabsteyn, Oliver Bartsch, Christina Kyzirakos, Simone Kayser, Johannes Harter, Pauline Latzer, Dirk Hadaschik, Florian Battke, Andreas D Hartkopf, Saskia Biskup
Adjuvant treatment for breast cancer patients using individualized neoantigen peptide vaccination- A retrospective observation
PMID: 36366390 DOI: 10.3390/vaccines10111882

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Lily Guo, Jiyeon Park, Edward Yi, Elaine Marchi, Tzung-Chien Hsieh, Yana Kibalnyk, Yolanda Moreno-Sáez, Saskia Biskup, Oliver Puk, Carmela Beger, Quan Li, Kai Wang, Anastassia Voronova, Peter M. Krawitz & Gholson J. Lyon
KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients
PMID: 35970914 DOI: 10.1038/s41431-022-01171-1

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Nina Bögershausen, Hannah E Krawczyk, Rami A Jamra, Sheng-Jia Lin, Gökhan Yigit, Irina Hüning, Anna M Polo, Barbara Vona, Kevin Huang, Julia Schmidt, Janine Altmüller, Johannes Luppe, Konrad Platzer, Beate B Dörgeloh, Andreas Busche, Saskia Biskup, Marisa I Mendes, Desiree E C Smith, Gajja S Salomons, Arne Zibat, Eva Bültmann, Peter Nürnberg, Malte Spielmann, Johannes R Lemke, Yun Li Martin Zenker, Gaurav K Varshney, Hauke S Hillen, Christian P Kratz, Bernd Wollnik
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly
PMID: 35790048 DOI: 10.1002/humu.24430

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Joohyun Park, Arianna Tucci, Valentina Cipriani, German Demidov, Clarissa Rocca, Jan Senderek, Michaela Butryn, Ana Velic, Tanya Lam, Evangelia Galanaki, Elisa Cali, Letizia Vestito, Reza Maroofian, Natalie Deininger, Maren Rautenberg, Jakob Admard, Gesa-Astrid Hahn, Claudius Bartels, Nienke J H van Os, Rita Horvath, Patrick F. Chinnery, May Yung Tiet, Channa Hewamadduma, Marios Hadjivassiliou, George K. Tofaris; Genomics England Research Consortium; Nicholas W Wood, Stefanie N Hayer, Friedemann Bender, Benita Menden, Isabell Cordts, Katrin Klein, Huu Phuc Nguyen, Joachim K Krauss, Christian Blahak, Tim M Strom, Marc Sturm, Bart van de Warrenburg, Holger Lerche, Boris Maček, Matthis Synofzik, Stephan Ossowski, Dagmar Timmann, Marc E Wolf, Damian Smedley, Olaf Riess, Ludger Schöls, Henry Houlden, Tobias B Haack, Holger Hengel
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
PMID: 35986737 DOI: 10.1016/j.gim.2022.07.006

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Nataša Mihailovic, Simone Schimpf-Linzenbold, Inga Sattler, Nicole Eter, Peter Heiduschka
The first reported case of a deletion of the entire RPGR gene in a family with X-linked retinitis pigmentosa
PMID: 35652150 DOI: 10.1080/13816810.2022.2083181

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Marcello Scala, Masashi Nishikawa, Hidenori Ito, Hidenori Tabata, Tayyaba Khan, Andrea Accogli, Laura Davids, Anna Ruiz, Pietro Chiurazzi, Gabriella Cericola, Björn Schulte, Kristin G Monaghan, Amber Begtrup, Annalaura Torella, Michele Pinelli, Anne Sophie Denommé-Pichon, Antonio Vitobello, Caroline Racine, Maria Margherita Mancardi, Courtney Kiss, Andrea Guerin, Wendy Wu, Elisabeth Gabau Vila, Bryan C. Mak, Julian A Martinez-Agosto, Michael B Gorin, Bugrahan Duz, Yavuz Bayram, Claudia M B Carvalho, Jaime E. Vengoechea, David Chitayat, Tiong Yang Tan, Bert Callewaert, Bernd Kruse, Lynne M. Bird, Laurence Faivre, Marcella Zollino, Saskia Biskup, Pasquale Striano, Vincenzo Nigro, Mariasavina Severino, Valeria Capra, Gregory Costain, Koh ichi Nagata
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes
PMID: 35851598 DOI: 10.1093/brain/awac106

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Isabell Cordts, Demet Önder, Andreas Traschütz, Xenia Kobeleva, Ivan Karin, Martina Minnerop, Peter Koertvelyessy, Saskia Biskup, Stephan Forchhammer, Johannes Binder, Andreas Tzschach, Frank Meiss, Axel Schmidt, Martina Kreiß, Kirsten Cremer, Martin A. Mensah, Joohyun Park, Maren Rautenberg, Natalie Deininger, Marc Sturm, Paul Lingor, Thomas Klopstock, Markus Weiler, Franz Marxreiter, Matthis Synofzik, Christian Posch, Judith Sirokay, Thomas Klockgether, Tobias B Haack, Marcus Deschauer
Adult-onset neurodegeneration in nucleotide excision repair disorders (NERDND ): Time to move beyond the skin
PMID: 35699229 DOI: 10.1002/mds.29071

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Maike F. Dohrn, Danique Beijer, Lejla Mulahasanovic
Heterozygous POLG variant Ser1181Asn is associated with autosomal dominant neuro-myopathy in one family with no further specific manifestations of mitochondrial syndrome
PMID: 35811324 DOI: 10.1186/s42466-022-00197-6

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Andrea Gangfuß, Andreas Hentschel, Lorena Heil, Maria Gonzalez, Anne Schönecker, Christel Depienne, Anna Nishimura, Diana Zengeler, Nicolai Kohlschmidt, Albert Sickmann, Ulrike Schara-Schmidt, Dieter O. Fürst, Peter F M van der Ven, Andreas Hahn, Andreas Roos, Anne Schänzer
Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1)
PMID: 35660068 DOI: 10.1016/j.ymgme.2022.05.005

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Sebastian Hörber, Christoph Drees, Tina Ganzenmueller, Kristina Schmauder, Silke Peter,Dirk Biskup, Andreas Peter
Evaluation of a laboratory-based high-throughput SARS-CoV-2 antigen assay
PMID: 35700973 DOI: 10.1515/cclm-2022-0360

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Ali Amr, Marc Hinderer, Lena Griebel, Dominic Deuber, Christoph Egger, Farbod Sedaghat-Hamedani, Elham Kayvanpour, Daniel Huhn, Jan Haas, Karen Frese, Marc Schweig, Ninja Marnau, Annika Krämer, Claudia Durand, Florian Battke, Hans-Ulrich Prokosch, Michael Backes, Andreas Keller, Dominique Schröder, Hugo A. Katus, Norbert Frey & Benjamin Meder
Controlling my genome with my smartphone: first clinical experiences of the PROMISE system
PMCID: PMC9151530 DOI: 10.1007/s00392-021-01942-8

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Andrea Forschner, Heike Niessner, Tobias Sinnberg, Thomas Eigentler, Teresa Amaral, Ferdinand Seith, Claus Garbe, Saskia Biskup, Florian Battke
Circulating tumor DNA (ctDNA) in the detection of relapse in melanoma patients with adjuvant anti-PD-1 therapy
PMID: 35555861 DOI: 10.1111/ddg.14766

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Meer Jacob Rahimi, Nicole Urban, Meret Wegler, Heinrich Sticht, Michael Schaefer, Bernt Popp, Frank Gaunitz, Manuela Morleo, Vincenzo Nigro, Silvia Maitz, Grazia M S Mancini, Claudia Ruivenkamp, Eun-Kyung Suk, Tobias Bartolomaeus, Andreas Merkenschlager, Daniel Koboldt, Dennis Bartholomew, Alexander P A Stegmann, Margje Sinnema, Irma Duynisveld, Ramona Salvarinova, Simone Race, Bert B A de Vries, Aurélien Trimouille, Sophie Naudion, Daphna Marom, Uri Hamiel, Noa Henig, Florence Demurger, Nils Rahner, Enrika Bartels, J Austin Hamm, Abbey M Putnam, Richard Person, Rami Abou Jamra, Henry Oppermann
De novo variants in ATP2B1 lead to neurodevelopmental delay
PMID: 35358416 DOI: 10.1016/j.ajhg.2022.03.009

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Niklas Schwarz, Simone Seiffert, Manuela Pendziwiat, Annika Verena Rademacher, Tobias Brünger, Ulrike B S Hedrich, Paul B Augustijn, Hartmut Baier, Allan Bayat, Francesca Bisulli, Russell J Buono, Ben Zeev Bruria, Michael G Doyle, Renzo Guerrini, Gali Heimer, Michele Iacomino, Hugh Kearney, Karl Martin Klein, Ioanna Kousiappa, Wolfram S Kunz, Holger Lerche, Laura Licchetta, Ebba Lohmann, Raffaella Minardi, Marie McDonald, Sarah Montgomery, Lejla Mulahasanovic, Renske Oegema, Barel Ortal, Savvas S Papacostas, Francesca Ragona, Tiziana Granata, Phillip S Reif, Felix Rosenow, Annick Rothschild, Paolo Scudieri, Pasquale Striano, Paolo Tinuper, George A Tanteles, Annalisa Vetro, Felix Zahnert, Ethan M Goldberg, Federico Zara, Dennis Lal, Patrick May, Hiltrud Muhle, Ingo Helbig, Yvonne Weber
Spectrum of phenotypic, genetic, and functional characteristics in patients with epilepsy with KCNC2 pathogenic variants
PMID: 35314505 DOI: 10.1212/WNL.0000000000200660

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Friedmar R. Kreuz
Genetic counseling: development of requirements, contents, and quality management in Germany
DOI: 10.1515/medgen-2021-2056

---

Friedmar R. Kreuz
Medizinethische Überlegungen zur prädiktiven und pränatalen genetischen Diagnostik und Beratung
DOI: 10.1007/978-3-662-64220-7

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Melanie Meyer, Jana C Hollenbeck, Janine Reunert, Anja Seelhöfer, Stephan Rust, Manfred Fobker, Saskia Biskup, Ulrike Och, Mechthild Linden, Jörn Oliver Sass, Thorsten Marquardt
3-Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency-A novel disorder of valine metabolism
PMID: 34176136 DOI: 10.1002/jimd.12410

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Maike F Dohrn, Corina Heller, Diana Zengeler, Carolin D Obermaier, Saskia Biskup, Joachim Weis, Stefan Nikolin, Kristl G Claeys, Ulrike Schöne, Danique Beijer, Natalie Winter, Pascal Achenbach, Burkhard Gess, Jörg B Schulz, Lejla Mulahasanovic
Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers
PMID: 35101151 DOI: 10.1186/s42466-022-00169-w

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Marcus Wölffer, Florian Battke, Martin Schulze, Magdalena Feldhahn, Lukas Flatz, Peter Martus, Andrea Forschner
Biomarkers Associated with Immune-Related Adverse Events under Checkpoint Inhibitors in Metastatic Melanoma
PMID: 35053465 DOI: 10.3390/cancers14020302

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Orli Michaeli, Hagay Ladany, Ayelet Erez, Shay Ben Shachar, Shai Izraeli, Gabriel Lidzbarsky, Lina Basel-Salmon, Saskia Biskup, Yosef E Maruvka, Helen Toledano, Yael Goldberg
Di-genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predisposition
PMID: 34967012 DOI: 10.1111/cge.14106

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Heinz Gabriel, Dirk Korinth, Martin Ritthaler, Björn Schulte, Florian Battke, Constantin von Kaisenberg, Max Wüstemann, Bernt Schulze, Almuth Friedrich-Freksa, Lutz Pfeiffer, Michael Entezami, Andreas Schröer, Joachim Bürger, Eva Maria Christina Schwaibold, Holger Lebek, Saskia Biskup
Trio exome sequencing is highly relevant in prenatal diagnostics
PMID: 34958143 DOI: 10.1002/pd.6081

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Carolin Blumendeller, Julius Boehme, Maximilian Frick, Martin Schulze, Antje Rinckleb, Christina Kyzirakos, Simone Kayser, Maria Kopp, Sabine Kelkenberg, Natalia Pieper, Oliver Bartsch, Dirk Hadaschick, Florian Battke, Arnulf Stenzl, Saskia Biskup
Use of plasma ctDNA as a potential biomarker for longitudinal monitoring of a patient with metastatic high-risk upper tract urothelial carcinoma receiving pembrolizumab and personalized neoepitope-derived multipeptide vaccinations: a case report
PMID: 33431630 PMCID: PMC7802705 DOI: 10.1136/jitc-2020-001406

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Boldizsar Kovacs, Stephan Winnik, Argelia Medeiros-Domingo, Sarah Costa, Guan Fu, Saskia Biskup, Frank Ruschitzka, Andreas J Flammer, Felix C Tanner, Firat Duru, Ardan M Saguner
The novel TRPM4 c.448G>T variant is associated with familial conduction disorders, cardiomyopathy, and sudden cardiac death
PMID: 34897640 DOI: 10.5603/CJ.a2021.0157

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Walid Fazeli, Daniel Bamborschke, Abubakar Moawia, Somayeh Bakhtiari, Abbas Tafakhori, Matthias Giersdorf, Andreas Hahn, Anja Weik, Kirsten Kolzter, Sajad Shafiee, Sheng Chih Jin, Friederike Körber, Min Ae Lee-Kirsch, Hossein Darvish, Sebahattin Cirak, Michael C Kruer, Anne Koy
The phenotypic spectrum of PCDH12 associated disorders – Five new cases and review of the literature
PMID: 34773825 DOI: 10.1016/j.ejpn.2021.10.011

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Anke Tropitzsch, Thore Schade-Mann, Philipp Gamerdinger, Saskia Dofek, Björn Schulte, Martin Schulze, Florian Battke, Sarah Fehr, Saskia Biskup, Andreas Heyd, Marcus Müller, Hubert Löwenheim, Barbara Vona, Martin Holderried
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study
PMID: 34753855 DOI: 10.1097/AUD.0000000000001159

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Michael Zech , Kishore R Kumar, Sophie Reining, Janine Reunert, Michel Tchan, Lisa G Riley, Alexander P Drew, Robert J Adam, Riccardo Berutti, Saskia Biskup, Nicolas Derive, Somayeh Bakhtiari, Sheng Chih Jin, Michael C Kruer, Tanya Bardakjian, Pedro Gonzalez-Alegre, Ignacio J Keller Sarmiento, Niccolo E Mencacci, Steven J Lubbe, Manju A Kurian, Fabienne Clot, Aurélie Méneret, Jean-Madeleine de Sainte Agathe, Victor S C Fung, Marie Vidailhet, Matthias Baumann, Thorsten Marquardt, Juliane Winkelmann, Sylvia Boesch
Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement
PMID: 34596301 DOI: 10.1002/mds.28804

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Hanna Faber, Oliver Puk, Anja Holz, Saskia Biskup, Bogomil Voykov
Identification of a New Genetic Mutation Associated With Peters Anomaly
PMID: 33284162 DOI: 10.1097/ICO.0000000000002611

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Julien H Park, Robert G Mealer, Abdallah F Elias, Susanne Hoffmann, Marianne Grüneberg, Saskia Biskup, Manfred Fobker, Jaclyn Haven, Ute Mangels, Janine Reunert, Stephan Rust, Jonathan Schoof, Corbin Schwanke, Jordan W Smoller, Richard D Cummings, Thorsten Marquardt
N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency
PMID: 32852845 PMCID: PMC8086894 DOI: 10.1002/jimd.12306

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Michael Bitzer, Stephan Spahn, Sepideh Babaei, Marius Horger, Stephan Singer, Klaus Schulze-Osthoff, Pavlos Missios, Sergios Gatidis, Dominik Nann, Sven Mattern, Veit Scheble, Konstantin Nikolaou, Sorin Armeanu-Ebinger, Martin Schulze, Christopher Schroeder, Saskia Biskup, Janina Beha, Manfred Claassen, Kristina Ruhm, Antti Poso, Nisar P Malek
Targeting extracellular and juxtamembrane FGFR2 mutations in chemotherapy-refractory cholangiocarcinoma
PMID: 34480077 PMCID: PMC8417271 DOI: 10.1038/s41698-021-00220-0

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Guy Helman, Marisa I Mendes, Francesco Nicita, Lama Darbelli, Omar Sherbini, Travis Moore, Alexa Derksen, Amy Pizzino, Rosalba Carrozzo, Alessandra Torraco, Michela Catteruccia, Chiara Aiello, Paola Goffrini, Sonia Figuccia, Desiree E C Smith, Kinga Hadzsiev, Andreas Hahn, Saskia Biskup, Ines Brösse, Urania Kotzaeridou, Darja Gauck, Theresa A Grebe, Frances Elmslie, Karen Stals, Rajat Gupta, Enrico Bertini, Isabelle Thiffault, Ryan J Taft, Raphael Schiffmann, Ulrich Brandl, Tobias B Haack, Gajja S Salomons, Cas Simons, Geneviève Bernard, Marjo S van der Knaap, Adeline Vanderver, Ralf A Husain
Expanded phenotype of AARS1-related white matter disease
PMID: 34446925 DOI: 10.1038/s41436-021-01286-8

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Sophia Gunzer, Andreas Kraus, Inka Buchroth, Marianne Grüneberg, Cordula Westermann, Saskia Biskup, Janine Reunert, Inga Grünewald, Thorsten Marquardt
Hypertransaminasemia and liver fibrosis associated with haptoglobin retention and anhaptoglobinemia in a paediatric patient
PMID: 34358398 DOI: 10.1111/liv.15029

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Ev-Christin Heide, Oliver Puk, Saskia Biskup, Arne Krahn, Erik Rauf, Barbara A K Kreilkamp, Walter Paulus, Niels K Focke
A novel likely pathogenic heterozygous HECW2 missense variant in a family with variable expressivity of neurodevelopmental delay, hypotonia, and epileptiform EEG patterns
PMID: 34327820 DOI: 10.1002/ajmg.a.62427

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Nicole Weisschuh, Simone Schimpf-Linzenbold, Pascale Mazzola, Sinja Kieninger, Ting Xiao, Ulrich Kellner, Teresa Neuhann, Carina Kelbsch, Felix Tonagel, Helmut Wilhelm, Susanne Kohl, Bernd Wissinger
Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants
PMID: 34242285 PMCID: PMC8270428 DOI: 10.1371/journal.pone.0253987

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Vasily Smirnov, Olivier Grunewald, Jean Muller, Christina Zeitz, Carolin D Obermaier, Aurore Devos, Valérie Pelletier, Béatrice Bocquet, Camille Andrieu, Jean-Louis Bacquet, Elodie Lebredonchel, Saddek Mohand-Saïd, Sabine Defoort-Dhellemmes, José-Alain Sahel, Hélène Dollfus, Xavier Zanlonghi, Isabelle Audo, Isabelle Meunier, Elise Boulanger-Scemama, Claire-Marie Dhaenens
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy
PMID: 34203883 PMCID: PMC8232641 DOI: 10.3390/ijms22126410

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Francesca Semino, Julian Schröter, Marjolein H Willemsen, Thomas Bast, Saskia Biskup, Stefanie Beck-Woedl, Heiko Brennenstuhl, Christian P Schaaf, Stefan Kölker, Georg F Hoffmann, Tobias B Haack, Steffen Syrbe
Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder
PMID: 34157790 DOI: 10.1002/humu.24245

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Thomas Mika, Deepak Vangala, Matthias Eckhardt, Paul La Rosée, Christoph Lange, Kai Lehmberg, Charlotte Wohlschläger, Saskia Biskup, Ilka Fuchs, Jasmin Mann, Stephan Ehl, Klaus Warnatz, Roland Schroers
Case Report: Hemophagocytic Lymphohistiocytosis and Non-Tuberculous Mycobacteriosis Caused by a Novel GATA2 Variant
PMID: 34040617 PMCID: PMC8143047 DOI: 10.3389/fimmu.2021.682934

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Eva Lausberg, Sebastian Gießelmann, Joseph P Dewulf, Elsa Wiame, Anja Holz, Ramona Salvarinova, Clara D van Karnebeek, Patricia Klemm, Kim Ohl, Michael Mull, Till Braunschweig, Joachim Weis, Clemens J Sommer, Stephanie Demuth, Claudia Haase, Claudia Stollbrink-Peschgens, François-Guillaume Debray, Cecile Libioulle, Daniela Choukair, Prasad T Oommen, Arndt Borkhardt, Harald Surowy, Dagmar Wieczorek, Norbert Wagner, Robert Meyer, Thomas Eggermann, Matthias Begemann, Emile Van Schaftingen, Martin Häusler, Klaus Tenbrock, Lambert van den Heuvel, Miriam Elbracht, Ingo Kurth, Florian Kraft
C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation
PMID: 33945503 PMCID: PMC8203463 DOI: 10.1172/JCI143078

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Jan H Döring, Julian Schröter, Jerome Jüngling, Saskia Biskup, Kerstin A Klotz, Thomas Bast, Tobias Dietel, G Christoph Korenke, Sophie Christoph, Heiko Brennenstuhl, Guido Rubboli, Rikke S Møller, Gaetan Lesca, Yves Chaix, Stefan Kölker, Georg F Hoffmann, Johannes R Lemke, Steffen Syrbe
Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders
PMID: 33802230 PMCID: PMC7999221 DOI: 10.3390/ijms22062824

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Jens Schittenhelm, Lukas Ziegler, Jan Sperveslage, Michel Mittelbronn, David Capper, Isabel Burghardt, Antti Poso, Saskia Biskup, Marco Skardelly, Ghazaleh Tabatabai
FGFR3 overexpression is a useful detection tool for FGFR3 fusions and sequence variations in glioma
PMID: 33898054 PMCID: PMC8049444 (available on 2021-11-20) DOI: 10.1093/nop/npaa075

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Anne K van Riesen, Saskia Biskup, Andrea A Kühn, Angela M Kaindl, Christoph van Riesen
Novel Mutation in the TSFM Gene Causes an Early-Onset Complex Chorea without Basal Ganglia Lesions
PMID: 33816677 PMCID: PMC8015916 DOI: 10.1002/mdc3.13144

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Janina Gburek-Augustat, Jan-Christoph Schoene-Bake, Eva Bültmann, Tobias Haack, Rebecca Buchert, Matthis Synofzik, Saskia Biskup, Friedrich Feuerhake, Ina Sorge, Hans Hartmann
Pitfalls in Genetic Diagnostics: Why Phenotyping is Essential
PMID: 33791999 DOI: 10.1055/s-0041-1726306

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Anne Schänzer, Elisabeth Schumann, Diana Zengeler, Lisann Gulatz, Giovanni Maroli, Uwe Ahting, Anke Sprengel, Sabine Gräf, Andreas Hahn, Christian Jux, Till Acker, Dieter O Fürst, Stefan Rupp, Julia Schuld, Peter F M van der Ven
The p.Ala2430Val mutation in filamin C causes a „hypertrophic myofibrillar cardiomyopathy“
PMID: 33710525 DOI: 10.1007/s10974-021-09601-1

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Laura Kuehlewein, Ditta Zobor, Katarina Stingl, Melanie Kempf, Fadi Nasser, Antje Bernd, Saskia Biskup, Frans P M Cremers, Muhammad Imran Khan, Pascale Mazzola, Karin Schäferhoff, Tilman Heinrich, Tobias B Haack, Bernd Wissinger, Eberhart Zrenner, Nicole Weisschuh, Susanne Kohl
Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa
PMID: 33673512 PMCID: PMC7956818 DOI: 10.3390/ijms22052374

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Florian Battke, Björn Schulte, Martin Schulze, Saskia Biskup
The question of WGS’s clinical utility remains unanswered
PMID: 33597733 PMCID: PMC8110542 DOI: 10.1038/s41431-021-00823-y

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Yannic Saathoff, Saskia Biskup, Claudia Funke, Christian Roth
New Nonsense Variant c.2983G>T; p.Glu995* in the CACNA1A Gene Causes Progressive Autosomal Dominant Ataxia
PMID: 33121221 PMCID: PMC7840235 DOI: 10.14802/jmd.20082

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Stephan Spahn, Daniel Roessler, Radu Pompilia, Gisela Gabernet, Beryl Primrose Gladstone, Marius Horger, Saskia Biskup, Magdalena Feldhahn, Sven Nahnsen, Franz J Hilke, Bernhard Scheiner, Jean-François Dufour, Enrico N De Toni, Matthias Pinter, Nisar P Malek, Michael Bitzer
Clinical and Genetic Tumor Characteristics of Responding and Non-Responding Patients to PD-1 Inhibition in Hepatocellular Carcinoma
PMID: 33353145 PMCID: PMC7766321 DOI: 10.3390/cancers12123830

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Arif Luqman, Susanne Zabel, Samane Rahmdel, Britta Merz, Nicole Gruenheit, Johannes Harter, Kay Nieselt, Friedrich Götz
The Neuromodulator-Encoding sadA Gene Is Widely Distributed in the Human Skin Microbiome
PMID: 33335515 PMCID: PMC7736160 DOI: 10.3389/fmicb.2020.573679

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Henning Zelba, David Worbs, Johannes Harter, Natalia Pieper, Christina Kyzirakos-Feger, Simone Kayser, Marcel Seibold, Oliver Bartsch, Jiri Ködding, Saskia Biskup
A Highly Specific Assay for the Detection of SARS-CoV-2-Reactive CD4 + and CD8 + T Cells in COVID-19 Patients
PMID: 33298615 DOI: 10.4049/jimmunol.2000811

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Aboulfazl Rad, Thore Schade-Mann, Philipp Gamerdinger, Grigoriy A Yanus, Björn Schulte, Marcus Müller, Evgeny N Imyanitov, Saskia Biskup, Hubert Löwenheim, Anke Tropitzsch, Barbara Vona
Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus
PMID: 33169910 DOI: 10.1002/humu.24136

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Simone Schröder, Yun Li, Gökhan Yigit, Janine Altmüller, Ingrid Bader, Andrea Bevot, Saskia Biskup, Steffi Dreha-Kulaczewski, G Christoph Korenke, Raimund Kottke, Johannes A Mayr, Martin Preisel, Sandra P Toelle, Sarah Wente-Schulz, Saskia B Wortmann, Heidi Hahn, Eugen Boltshauser, Anja Uhmann, Bernd Wollnik, Knut Brockmann
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia
PMID: 33024317 DOI: 10.1038/s41436-020-00979-w

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Laura Kuehlewein, Ditta Zobor, Sten Olof Andreasson, Carmen Ayuso, Sandro Banfi, Beatrice Bocquet, Antje S Bernd, Saskia Biskup, Camiel J F Boon, Susan M Downes, M Dominik Fischer, Frank G Holz, Ulrich Kellner, Bart P Leroy, Isabelle Meunier, Fadi Nasser, Thomas Rosenberg, Günther Rudolph, Katarina Stingl, Alberta A H J Thiadens, Barbara Wilhelm, Bernd Wissinger, Eberhart Zrenner, Susanne Kohl, Nicole Weisschuh, RD-CURE Consortium
Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial
PMID: 33057649 PMCID: PMC7563671 (available on 2021-10-15) DOI: 10.1001/jamaophthalmol.2020.4206

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Eva-Katharina Willimsky, Anna Munzig, Karin Mayer, Saskia Biskup, Angela Abicht, Konstanze Hoertnagel, Hubertus von Voss, Hanns-Georg Klein, Imma Rost, Line H G Larsen, Hanns Atli Dahl, Hannes Hoelz, Celina von Stuelpnagel, Ingo Borggraefe
Next generation sequencing in pediatric epilepsy using customized panels size matters
PMID: 33086385 DOI: 10.1055/s-0040-1712488

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Marie Anne-Catherine Neumann, Dajana Grossmann, Simone Schimpf-Linzenbold, Dana Dayan, Katarina Stingl, Reut Ben-Menachem, Ophry Pines, François Massart, Sylvie Delcambre, Jenny Ghelfi, Jill Bohler, Tim Strom, Amit Kessel, Abdussalam Azem, Ludger Schöls, Anne Grünewald, Bernd Wissinger, Rejko Krüger
Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy
PMID: 33028849 PMCID: PMC7541502 DOI: 10.1038/s41598-020-73557-4

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Christina Walter, Andreas Hartkopf, Andre Koch, Marion Klaumünzer, Martin Schulze, Eva-Maria Grischke, Florin-Andrei Taran, Sara Brucker, Florian Battke, Saskia Biskup
Sequencing for an interdisciplinary molecular tumor board in patients with advanced breast cancer: experiences from a case series
PMID: 32934773 PMCID: PMC7476733 DOI: 10.18632/oncotarget.27704

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Linda Ongaro, Marilia O Scliar, Rodrigo Flores, Alessandro Raveane, Davide Marnetto, Stefania Sarno, Guido A Gnecchi-Ruscone, Marta E Alarcón-Riquelme, Etienne Patin, Pongsakorn Wangkumhang, Garrett Hellenthal, Miguel Gonzalez-Santos, Roy J King, Anastasia Kouvatsi, Oleg Balanovsky, Elena Balanovska, Lubov Atramentova, Shahlo Turdikulova, Sarabjit Mastana, Damir Marjanovic, Lejla Mulahasanovic, Andreja Leskovac, Maria F Lima-Costa, Alexandre C Pereira, Mauricio L Barreto, Bernardo L Horta, Nédio Mabunda, Celia A May, Andrés Moreno-Estrada, Alessandro Achilli, Anna Olivieri, Ornella Semino, Kristiina Tambets, Toomas Kivisild, Donata Luiselli, Antonio Torroni, Cristian Capelli, Eduardo Tarazona-Santos, Mait Metspalu, Luca Pagani, Francesco Montinaro
The Genomic Impact of European Colonization of the Americas
PMID: 31735679 DOI: 10.1016/j.cub.2019.09.076

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Georg Christoph Korenke, Björn Schulte, Saskia Biskup, John Neidhardt, Marta Owczarek-Lipska
A Novel de novo Frameshift Mutation in the BCL11A Gene in a Patient with Intellectual Disability Syndrome and Epilepsy
PMID: 32903878 doi: 10.1159/000508566.

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Carolina Courage, Christopher B Jackson, Marta Owczarek-Lipska, Aleksander Jamsheer, Anna Sowińska-Seidler, Małgorzata Piotrowicz, Lucjusz Jakubowski, Fanny Dallèves, Erik Riesch, John Neidhardt, Johannes R Lemke
Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome
PMID: 31512363 doi: 10.1002/ajmg.a.61354.

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Alka Malhotra, Alban Ziegler, Li Shu, Renee Perrier, Louise Amlie-Wolf, Elizabeth Wohler, Nara Lygia de Macena Sobreira, Estelle Colin, Adeline Vanderver, Omar Sherbini, Katrien Stouffs, Emmanuel Scalais, Alessandro Serretti, Magalie Barth, Benjamin Navet, Paul Rollier, Hui Xi, Hua Wang, Hainan Zhang, Denise L Perry, Alessandra Ferrarini, Roberto Colombo, Alexander Pepler, Adele Schneider, Kiyotaka Tomiwa, Nobuhiko Okamoto, Naomichi Matsumoto, Noriko Miyake, Ryan Taft, Xiao Mao, Dominique Bonneau
De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features
PMID: 32820033 doi: 10.1136/jmedgenet-2020-107137

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Michael Bitzer, Leonie Ostermann, Marius Horger, Saskia Biskup, Martin Schulze, Kristina Ruhm, Franz Hilke, Öznur Öner, Konstantin Nikolaou, Christopher Schroeder, Olaf Riess, Falko Fend, Daniel Zips, Martina Hinterleitner, Lars Zender, Ghazaleh Tabatabai, Janina Beha, Nisar P Malek
Next-Generation Sequencing of Advanced GI Tumors Reveals Individual Treatment Options
PMID: 32923905 DOI: 10.1200/PO.19.00359

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Lena Griebel, Marc Hinderer, Ali Amr, Benjamin Meder, Marc Schweig, Dominic Deuber, Christoph Egger, Claudia Kawohl, Annika Krämer, Isabell Flade, Dominique Schröder, Hans-Ulrich Prokosch
The Patient as Genomic Data Manager – Evaluation of the PROMISE App
PMID: 32570544 DOI: 10.3233/SHTI200324.

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Pauline E Schneeberger, Fanny Kortüm, Georg Christoph Korenke, Malik Alawi, René Santer, Mathias Woidy, Daniela Buhas, Stephanie Fox, Jane Juusola, Majid Alfadhel, Bryn D Webb, Emanuele G Coci, Rami Abou Jamra, Manuela Siekmeyer, Saskia Biskup, Corina Heller, Esther M Maier, Poupak Javaher-Haghighi, Maria F Bedeschi, Paola F Ajmone, Maria Iascone, Hilde Peeters, Katleen Ballon, Jaak Jaeken, Aroa Rodríguez Alonso, María Palomares-Bralo, Fernando Santos-Simarro, Marije E C Meuwissen, Diane Beysen, R Frank Kooy, Henry Houlden, David Murphy, Mohammad Doosti, Ehsan G Karimiani, Majid Mojarrad, Reza Maroofian, Lenka Noskova, Stanislav Kmoch, Tomas Honzik, Heidi Cope, Amarilis Sanchez-Valle, Undiagnosed Diseases Network; Bruce D Gelb, Ingo Kurth, Maja Hempel, Kerstin Kutsche. Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
PMID: 32761064 DOI: 10.1093/brain/awaa20

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Manole A, Efthymiou S, O’Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K, Lopez MR, Salpietro V, Harripaul R, Badalato L, Walia J, Francklyn CS, Athanasiou-Fragkouli A, Sullivan R, Desai S, Baranano K, Zafar F, Rana N, Ilyas M, Horga A, Kara M, Mattioli F, Goldenberg A, Griffin H, Piton A, Henderson LB, Kara B, Aslanger AD, Raaphorst J, Pfundt R, Portier R, Shinawi M, Kirby A, Christensen KM, Wang L, Rosti RO, Paracha SA, Sarwar MT, Jenkins D; SYNAPS Study Group, Ahmed J, Santoni FA, Ranza E, Iwaszkiewicz J, Cytrynbaum C, Weksberg R, Wentzensen IM, Guillen Sacoto MJ, Si Y, Telegrafi A, Andrews MV, Baldridge D, Gabriel H, Mohr J, Oehl-Jaschkowitz B, Debard S, Senger B, Fischer F, van Ravenwaaij C, Fock AJM, Stevens SJC, Bähler J, Nasar A, Mantovani JF, Manzur A, Sarkozy A, Smith DEC, Salomons GS, Ahmed ZM, Riazuddin S, Riazuddin S, Usmani MA, Seibt A, Ansar M, Antonarakis SE, Vincent JB, Ayub M, Grimmel M, Jelsig AM, Hjortshøj TD, Karstensen HG, Hummel M, Haack TB, Jamshidi Y, Distelmaier F, Horvath R, Gleeson JG, Becker H, Mandel JL, Koolen DA, Houlden H.
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
PMID: 32738225 DOI: 10.1016/j.ajhg.2020.06.016

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Lenz D, Smith DEC, Crushell E, Husain RA, Salomons GS, Alhaddad B, Bernstein JA, Bianzano A, Biskup S, Brennenstuhl H, Caldari D, Dikow N, Haack TB, Hanson-Kahn A, Harting I, Horn D, Hughes J, Huijberts M, Isidor B, Kathemann S, Kopajtich R, Kotzaeridou U, Küry S, Lainka E, Laugwitz L, Lupski JR, Posey JE, Reynolds C, Rosenfeld JA, Schröter J, Vansenne F, Wagner M, Weiß C, Wolffenbuttel BHR, Wortmann SB, Kölker S, Hoffmann GF, Prokisch H, Mendes MI, Staufner C.
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1.
PMID: 32699352 DOI: 10.1038/s41436-020-0904-4

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Hirsch S, Roggia C, Biskup S, Bender B, Gepfner-Tuma I, Eckert F, Zips D, Malek NP, Wilhelm H, Renovanz M, Tabatabai G.
Depatux-M and temozolomide in advanced high-grade glioma.
PMID: 32705082 PMCID: PMC7367419 DOI: 10.1093/noajnl/vdaa063

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Mandel H, Kfir NC, Fedida A, Biton ES, Odeh M, Kalfon L, Harouch SB, Fleischer VS, Hoffman Y, Goldberg Y, Dinwiddie A, Dumin E, Eran A, Apel-Sarid L, Tiosano D, Falik-Zaccai TC. COG6-CDG: Expanding the Phenotype with emphasis on glycosylation defects involved in the causation of Male Disorders of Sex Development.
PMID: 32683677 DOI: 10.1111/cge.13816

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Forschner A, Weißgraeber S, Hadaschik D, Schulze M, Kopp M, Kelkenberg S, Sinnberg T, Garbe C, Biskup S, Battke F.
Circulating Tumor DNA Correlates with Outcome in Metastatic Melanoma Treated by BRAF and MEK Inhibitors – Results of a Prospective Biomarker Study.
Onco Targets Ther. 2020 Jun 4;13:5017-5032. doi: 10.2147/OTT.S248237. eCollection 2020.
PMID: 32581559

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Griebel L, Hinderer M, Amr A, Meder B, Schweig M, Deuber D, Egger C, Kawohl C, Krämer A, Flade I, Schröder D, Prokosch HU. The Patient as Genomic Data Manager – Evaluation of the PROMISE App. Stud Health Technol Inform. 2020 Jun 16;270:1061-1065. doi: 10.3233/SHTI200324.
PMID: 32570544

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Park JH, Ousingsawat J, Cabrita I, Bettels RE, Große-Onnebrink J, Schmalstieg C, Biskup S, Reunert J, Rust S, Schreiber R, Kunzelmann K, Marquardt T.
TMEM16A Deficiency: A Potentially Fatal Neonatal Disease Resulting From Impaired Chloride Currents.
J Med Genet. 2020 Jun 2. pii: jmedgenet-2020-106978. doi: 10.1136/jmedgenet-2020-106978.
PMID: 32487539

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Cöktü S, Spix C, Kaiser M, Beygo J, Kleinle S, Bachmann N, Kohlschmidt N, Prawitt D, Beckmann A, Klaes R, Nevinny-Stickel-Hinzpeter C, Döhnert S, Kraus C, Kadgien G, Vater I, Biskup S, Kutsche M, Kohlhase J, Eggermann T, Zenker M, Kratz CP.
Cancer Incidence and Spectrum Among Children With Genetically Confirmed Beckwith-Wiedemann Spectrum in Germany: A Retrospective Cohort Study.
Br J Cancer. 2020 May 26. doi: 10.1038/s41416-020-0911-x.
PMID: 32451468

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Boonsimma P, Michael Gasser M, Netbaramee W, Wechapinan T, Srichomthomg C, Ittiwut C, Wagner M, Krenn M, Zimprich F, Abicht A, Biskup S, Roser T, Borggraefe I, Suphapeetiporn K, Shotelersuk V.
Mutational and Phenotypic Expansion of ATP1A3-related Disorders: Report of Nine Cases.
Gene. 2020 Apr 24:144709. doi: 10.1016/j.gene.2020.144709.

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Teresa Amaral, Martin Schulze, Tobias Sinnberg, Maike Nieser, Peter Martus, Florian Battke, Claus Garbe, Saskia Biskup, Andrea Forschner.
Are Pathogenic Germline Variants in Metastatic Melanoma Associated with Resistance to Combined Immunotherapy?
Cancers 2020, 12(5), 1101; https://doi.org/10.3390/cancers12051101

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Nicole Weisschuh, Carolin D Obermeier, Florian Battke, Antje Bernd, Laura Kuehlewein, Fadi Nasser, Ditta Zobor, Eberhart Zrenner, Eva Weber, Bernd Wissinger, Saskia Biskup, Katarina Stingl, Susanne Kohl.
Genetic Architecture of Inherited Retinal Degeneration in Germany: A Large Cohort Study From a Single Diagnostic Center Over a 9-year Period.
PMID: 32531858; DOI: 10.1002/humu.24064

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Dorothea Mair, Saskia Biskup, Wolfram Kress, Angela Abicht, Wolfgang Brück, Sabrina Zechel, Karl Christian Knop, Fatima Barbara Koenig, Shelisa Tey, Stefan Nikolin, Katja Eggermann, Ingo Kurth, Andreas Ferbert, Joachim Weis. Differential diagnosis of vacuolar myopathies in the NGS era.
First published: 17 May 2020
https://doi.org/10.1111/bpa.12864

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Zimmermann M, Schuster S, Boesch S, Korenke GC, Mohr J, Reichbauer J, Kernstock C, Kotzot D, Spahlinger V, Schüle-Freyer R, Schöls L.
FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome.
Parkinsonism Relat Disord. 2020 Mar 28;74:6-11. doi: 10.1016/j.parkreldis.2020.03.021.
PMID:32268254

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Kriebel M, Ebel J, Battke F, Griesbach S, Volkmer H.
Interference With Complex IV as a Model of Age-Related Decline in Synaptic Connectivity.
Front Mol Neurosci. 2020 Mar 24;13:43. doi: 10.3389/fnmol.2020.00043. eCollection 2020.
PMID:32265651

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Bochem J, Zelba H, Amaral T, Spreuer J, Soffel D, Eigentler T, Wagner NB, Uslu U, Terheyden P, Meier F, Garbe C, Pawelec G, Weide B, Wistuba-Hamprecht K.
Peripheral PD-1+CD56+ T-cell frequencies correlate with outcome in stage IV melanoma under PD-1 blockade.
PLoS One. 2019 Aug 16;14(8):e0221301. doi: 10.1371/journal.pone.0221301. eCollection 2019.
PMID:31419253

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Grosse GM, Bauer C, Kopp B, Schrader C, Osmanovic A.
Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease.
BMC Med Genet. 2020 Mar 2;21(1):45. doi: 10.1186/s12881-020-0984-7
PMID:32122354

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Langenbruch L, Biskup S, Young P, Dräger B, Möddel G.
Two mutations in the nicotinic acetylcholine receptor subunit A4 (CHRNA4) in a family with autosomal dominant sleep-related hypermotor epilepsy.
Epileptic Disord. 2020 Feb 1;22(1):116-119. doi: 10.1684/epd.2020.1140
PMID:32031532

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Brenner E, Schörg BF, Ahmetlić F, Wieder T, Hilke FJ, Simon N, Schroeder C, Demidov G, Riedel T, Fehrenbacher B, Schaller M, Forschner A, Eigentler T, Niessner H, Sinnberg T, Böhm KS, Hömberg N, Braumüller H, Dauch D, Zwirner S, Zender L, Sonanini D, Geishauser A, Bauer J, Eichner M, Jarick KJ, Beilhack A, Biskup S, Döcker D, Schadendorf D, Quintanilla-Martinez L, Pichler BJ, Kneilling M, Mocikat R, Röcken M. Cancer immune control needs senescence induction by interferon-dependent cell cycle regulator pathways in tumours.
Nat Commun. 2020 Mar 12;11(1):1335. doi: 10.1038/s41467-020-14987-6
PMID:32165639

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Gasser M, Boonsimma P, Netbaramee W, Wechapinan T, Srichomthomg C, Ittiwut C, Krenn M, Zimprich F, Milenkovic I, Abicht A, Biskup S, Roser T, Shotelersuk V, Tacke M, Kuersten M, Wagner M, Borggraefe I, Suphapeetiporn K, von Stülpnagel C. ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response.
J Clin Neurosci. 2020 Jan 17. pii: S0967-5868(19)31942-3. doi: 10.1016/j.jocn.2020.01.041. [Epub ahead of print]PMID: 31959558 [PubMed – as supplied by publisher]

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Sandestig A, Engström K, Pepler A, Danielsson I, Odelberg-Johnsson P, Biskup S, Holz A, Stefanova M.
NUP188 Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome?
Mol Syndromol, 2019 Dec 10. doi: 10.1159/000504818

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Schittenhelm J, Krischker N, Gepfner-Tuma I, Behling F, Noell S, Eckert F, Biskup S, Tabatabai G.
Oncogenic KRAS hotspot mutations are rare in IDH-mutant gliomas.
Hum Genet. 2019 Nov 30. doi: 10.1007/s00439-019-02093-7
PMID: 30676672.

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Tremmel R, Klein K, Battke F, Fehr S, Winter S, Scheurenbrand T, Schaeffeler E, Biskup S, Schwab M, Zanger UM.
Copy number variation profiling in pharmacogenes using panel-based exome resequencing and correlation to human liver expression.
Hum Genet. 2019 Nov 30. doi: 10.1007/s00439-019-02093-7
PMID: 31786673

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Ongaro L, Scliar MO, Flores R, Raveane A, Marnetto D, Sarno S, Gnecchi-Ruscone GA, Alarcón-Riquelme ME, Patin E, Wangkumhang P, Hellenthal P, Gonzalez-Santos M, King RJ, Kouvatsi A, Balanovsky O, Balanovska E, Atramentova L, Turdikulova S, Mastana S, Marjanovic D, Mulahasanovic L, Leskovac A, Lima-Costa MF, Pereira AC, Barreto ML, Horta BL, Mabunda N, May CA, Moreno-Estrada A, Achilli A, Olivieri A, Semino O, Tambets K, Kivisild T, Luiselli D, Torroni A, Capelli C, Tarazona-Santos E, Metspalu M, Pagani L, Montinaro F. The Genomic Impact of European Colonization of the Americas.
Curr Biol. 2019 Nov 9. pii: S0960-9822(19)31306-5. doi: 10.1016/j.cub.2019.09.076.
PMID: 31735679

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Nasser F, Kurtenbach A, Biskup S, Weidensee S, Kohl S, Zrenner E
Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene.
Acta Ophthalmol. 2019 Oct 3. doi: 10.1111/aos.14255
PMID: 31580008

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Courage C, Jackson CB, Owczarek-Lipska M, Jamsheer A, Sowińska-Seidler A, Piotrowicz M, Jakubowski L, Dallèves F, Riesch E, Neidhardt J, Lemke JR.
Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.
American Journal of Medical Genetics, Part A. 2019 Sep 11. doi: 10.1002/ajmg.a.61354.
PMID: 31512363

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Park JH, Elpers C, Reunert J, McCormick ML, Mohr J, Biskup S, Schwartz O, Rust S, Grüneberg M, Seelhöfer A, Schara U, Boltshauser E, Spitz DR, Marquardt T.
SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.
Brain. 2019 Aug 1;142(8):2230-2237. doi: 10.1093/brain/awz182.
PMID: 31332433

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Grunwald LM, Stock R, Haag K, Buckenmaier S, Eberle MC, Wildgruber D, Storchak H, Kriebel M, Weißgraeber S, Mathew L, Singh Y, Loos M, Li KW, Kraushaar U, Fallgatter AJ, Volkmer H.
Comparative characterization of human induced pluripotent stem cells (hiPSC) derived from patients with schizophrenia and autism.
Translational Psychiatry. 2019 Jul 29;9(1):179. doi: 10.1038/s41398-019-0517-3.
PMID: 31358727.

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Forschner A, Battke F, Hadaschik D, Schulze M, Weißgraeber S, Han CT, Kopp M, Frick M, Klumpp B, Tietze N, Amaral T, Martus P, Sinnberg T, Eigentler T, Keim U, Garbe C, Döcker D, Biskup S.
Tumor mutation burden and circulating tumor DNA in combined CTLA-4 and PD-1 antibody therapy in metastatic melanoma – results of a prospective biomarker study.
J Immunother Cancer. 2019 Jul 12;7(1):180. doi: 10.1186/s40425-019-0659-0.
PMID: 31300034

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Bernstein U, Demuth S, Puk O, Eichhorn B, Schulz S.
Novel MECP2 Mutation c.1162_1172del p.Pro388 in Two Patients with Symptoms of Atypical Rett Syndrome.
Mol Syndromol. 2019 Jul;10(4):223-228. doi: 10.1159/000501183. Epub 2019 Jul 2.
PMID: 31602196

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Owczarek-Lipska M, Mulahasanovic L, Obermaier CD, Hörtnagel K, Neubauer BA, Korenke GC, Biskup S, Neidhardt J.
Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.
Springer Nature. 2019 Jul 3. doi: 10.1007/s11033-019-04906-4.
PMID: 31270756

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Hsieh TC, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, Bentzen HB, Biskup S, Borisov O, Braaten O, Ciaccio C, Coutelier M, Cremer K, Danyel M, Daschkey S, Eden HD, Devriendt K, Wilson S, Douzgou S, Đukić D, Ehmke N, Fauth C, Fischer-Zirnsak B, Fleischer N, Gabriel H, Graul-Neumann L, Gripp KW, Gurovich Y, Gusina A, Haddad N, Hajjir N, Hanani Y, Hertzberg J, Hoertnagel K, Howell J, Ivanovski I, Kaindl A, Kamphans T, Kamphausen S, Karimov C, Kathom H, Keryan A, Knaus A, Köhler S, Kornak U, Lavrov A, Leitheiser M, Lyon GJ, Mangold E, Reina PM, Carrascal AM, Mitter D, Herrador LM, Nadav G, Nöthen M, Orrico A, Ott CE, Park K, Peterlin B, Pölsler L, Raas-Rothschild A, Randolph L, Revencu N, Fagerberg CR, Robinson PN, Rosnev S, Rudnik S, Rudolf G, Schatz U, Schossig A, Schubach M, Shanoon O, Sheridan E, Smirin-Yosef P, Spielmann M, Suk EK, Sznajer Y, Thiel CT, Thiel G, Verloes A, Vrecar I, Wahl D, Weber I, Winter K, Wiśniewska M, Wollnik B, Yeung MW, Zhao M, Zhu N, Zschocke J, Mundlos S, Horn D, Krawitz PM. PEDIA: prioritization of exome data by image analysis.
Genetics in Medicine. 2019 Jun 5. doi: 10.1038/s41436-019-0566-2.
PMID: 31164752 .

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Rattay TW, Lindig T, Baets J, Smets K, Deconinck T, Söhn AS, Hörtnagel K, Eckstein KN, Wiethoff S, Reichbauer J, Döbler-Neumann M, Krägeloh-Mann I, Auer-Grumbach M, Plecko B, Münchau A, Wilken B, Janauschek M, Giese AK, De Bleecker JL, Ortibus E, Debyser M, Lopez de Munain A, Pujol A, Bassi MT, D’Angelo MG, De Jonghe P, Züchner S, Bauer P, Schöls L, Schüle R. FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
Brain. 2019 Jun 1;142(6):1561-1572. doi: 10.1093/brain/awz102.
PMID: 31135052

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Heyne HO, Artomov M, Battke F, Bianchini C, Smith DR, Liebmann N, Tadigotla V, Stanley CM, Lal D, Rehm H, Lerche H, Daly MJ, Helbig I, Biskup S, Weber YG, Lemke JR.
Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy. Genet Med. 2019 May 6. doi: 10.1038/s41436-019-0531-0. [Epub ahead of print] PMID: 31056551 [PubMed – as supplied by publisher].

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Carstens PO, Schwaibold EMC, Schregel K, Obermaier CD, Wrede A, Zechel S, Pauli S, Schmidt J.
X-linked myotubular myopathy and recurrent spontaneous pneumothorax: A new phenotype?
Neurol Genet. 2019 Apr 26;5(3):e327. doi: 10.1212/NXG.0000000000000327. eCollection 2019 Jun. No abstract available.
PMID: 31192301.

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Nasser F, Kohl S, Kuehlewein L, Wissinger B, Obermaier CD, Kurtenbach A, Zrenner E.
A case of X-linked retinoschisis with atypical fundus appearance. Sci Rep. 2019 Apr 20. doi: 10.1007/s10633-019-09698-3.
PMID: 31006083.

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Suriyanarayanan S, Othman A, Dräger B, Schirmacher A, Young P, Mulahasanovic L, Hörtnagel K, Biskup S, von Eckardstein A, Hornemann T, Lone MA..A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C. Neuromolecular Med. 2019 Apr 6. doi: 10.1007/s12017-019-08534-w. [Epub ahead of print] PMID: 30955194 [PubMed – as supplied by publisher]

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Ikenberg E, Reilich P, Abicht A, Heller C, Schoser B, Walter MC.
Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family. Sci Rep. 2019 Feb 20. pii: S0960-8966(18)30555-8. doi: 10.1016/j.nmd.2019.02.007. PMID: 30992180

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Roeben B, Blum D, Gabriel H, Synofzik M.
Atypical parkinsonism with severely reduced striatal dopamine uptake associated with a 16p11.2 duplication syndrome. J Neurol. 2019 Mar;266(3):775-776. doi: 10.1007/s00415-019-09182-7. Epub 2019 Jan 7.
PMID: 30617906.

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Funk N, Munz M, Ott T, Brockmann K, Wenninger-Weinzierl A, Kühn R, Vogt-Weisenhorn D, Giesert F, Wurst W, Gasser T, Biskup S.
The Parkinson’s disease-linked Leucine-rich repeat kinase 2 (LRRK2) is required for insulin-stimulated translocation of GLUT4. Sci Rep. 2019 Mar 14;9(1):4515. doi: 10.1038/s41598-019-40808-y. PMID: 30872638 [PubMed – in process]

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Hickmann AK, Frick M, Hadaschik D, Battke F, Bittl M, Ganslandt O, Biskup S, Döcker D.
Molecular tumor analysis and liquid biopsy: a feasibility investigation analyzing circulating tumor DNA in patients with central nervous system lymphomas. BMC Cancer. 2019 Mar 1;19(1):192. doi: 10.1186/s12885-019-5394-x. PMID: 30823914 [PubMed – in process]

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Ikenberg E, Reilich P, Abicht A, Heller C, Schoser B, Walter MC
Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family
Published online: February 20, 2019

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Nasser F, Mulahasanovic L, Alkhateeb M, Biskup S, Stingl K, Zrenner.
Hypotrichosis with cone-rod dystrophy in a patient with cadherin 3 (CDH3) mutation. Doc Ophthalmol. 2019 Feb 1. doi: 10.1007/s10633-019-09675-w. [Epub ahead of print] PMID: 30710256 [PubMed – as supplied by publisher].

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Kathrin Klein, Roman Tremmel, Stefan Winter, Sarah Fehr, Florian Battke, Tim Scheurenbrand , Elke Schaeffeler, Saskia Biskup, Matthias Schwab and Ulrich M. Zanger.
A New Panel-Based Next-Generation Sequencing Method for ADME Genes Reveals Novel Associations of Common and Rare Variants With Expression in a Human Liver Cohort Front. Genet., 31 January 2019 .

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Kuehlewein L, Schöls L, Llavona P, Grimm A, Biskup S, Zrenner E, Kohl S.
Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene. Graefes Arch Clin Exp Ophthalmol. 2019 Jan 17. doi: 10.1007/s00417-018-04233-7. [Epub ahead of print] PMID: 30656474 [PubMed – as supplied by publisher]

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Sandestig A, Green A, Jonasson J, Vogt H, Wahlström J, Pepler A, Ellnebo K, Biskup S, Stefanova M.
Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change? Two Novel Mutations and Literature Review. Mol Syndromol. 2019 Jan;9(5):259-265. doi: 10.1159/000492267. Epub 2018 Aug 9. PMID: 30733661 [PubMed]

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Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, Cho MT, Demmer LA, Falik-Zaccai T, Gamble CN, Hellenbroich Y, Iascone M, Kok F, Mahida S, Mandel H, Marquardt T, McWalter K, Panis B, Pepler A, Pinz H, Ramos L, Shinde DN, Smith-Hicks C, Stegmann APA, Stöbe P, Stumpel CTRM, Wilson C, Lemke JR, Di Donato N, Miller KG, Jamra R.
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies. Am J Hum Genet. 2018 Dec 31. pii: S0002-9297(18)30459-2. doi: 10.1016/j.ajhg.2018.12.008. [Epub ahead of print] PMID: 30612693 [PubMed – as supplied by publisher]

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Schene IF, Korenke CG, Huidekoper HH, van der Pol L, Dooijes D, Breur JMPJ, Biskup S, Fuchs SA, Visser G.
Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed? JIMD Rep. 2018 Dec 20. doi: 10.1007/8904_2018_148. [Epub ahead of print] PMID: 30569318 [PubMed – as supplied by publisher]

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Strehlow V, Heyne HO, Vlaskamp DRM, Marwick KFM, Rudolf G, de Bellescize J, Biskup S, Brilstra EH, Brouwer OF, Callenbach PMC, Hentschel J, Hirsch E, Kind PC, Mignot C, Platzer K, Rump P, Skehel PA, Wyllie DJA; GRIN2A study group , Hardingham GE, van Ravenswaaij-Arts CMA, Lesca G, Lemke JR.
GRIN2A-related disorders: genotype and functional consequence predict phenotype. Brain. 2018 Dec 12. doi: 10.1093/brain/awy304. [Epub ahead of print] PMID: 30544257 [PubMed – as supplied by publisher]

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Zagaglia S, Selch C, Nisevic JR, Mei D, Michalak Z, Hernandez-Hernandez L, Krithika S, Vezyroglou K, Varadkar SM, Pepler A, Biskup S, Leão M, Gärtner J, Merkenschlager A, Jaksch M, Møller RS, Gardella E, Kristiansen BS, Hansen LK, Vari MS, Helbig KL, Desai S, Smith-Hicks CL, Hino-Fukuyo N, Talvik T, Laugesaar R, Ilves P, Õunap K, Körber I, Hartlieb T, Kudernatsch M, Winkler P, Schimmel M, Hasse A, Knuf M, Heinemeyer J, Makowski C, Ghedia S, Subramanian GM, Striano P, Thomas RH, Micallef C, Thom M, Werring DJ, Kluger GJ, Cross JH, Guerrini R, Balestrini S, Sisodiya SM. Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease. Neurology. 2018 Nov 9. pii: 10.1212/WNL.0000000000006567. doi: 10.1212/WNL.0000000000006567. [Epub ahead of print]. PMID: 30413629 [PubMed – as supplied by publisher].

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Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xin Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet. 2018 Oct 10. pii: S0002-9297(18)30317-3. doi: 10.1016/j.ajhg.2018.09.006. [Epub ahead of print] PMID: 30343943 [PubMed – as supplied by publisher].

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Metz KA, Teng X, Coppens I, Lamb HM, Wagner BE, Rosenfeld JA, Chen X, Zhang Y, Kim HJ, Meadow ME, Wang TS, Haberlandt ED, Anderson GW, Leshinsky-Silver E, Bi W, Markello TC, Pratt M, Makhseed N, Garnica A, Danylchuk NR, Burrow TA, Jayakar P, McKnight D, Agadi S, Gbedawo H, Stanley C, Alber M,Prehl I, Peariso K, Ong MT, Mordekar SR, Parker MJ, Crooks D, Agrawal PB, Berry GT, Loddenkemper T, Yang Y, Maegawa GHB, Aouacheria A, Markle JG, Wohlschlegel JA, Hartman AL, Hardwick JM.
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect. Ann Neurol. 2018 Oct 8. doi: 10.1002/ana.25351. [Epub ahead of print] PMID: 30295347 [PubMed – as supplied by publisher].

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Zimmermann M, Wilke C, Schulte C, Hoffmann J, Klopfer J, Reimold M, Brockmann K, Synofzik M.
Biallelic Parkin (PARK2) mutations can cause a bvFTD phenotype without clinically relevant parkinsonism.
2018 Oct;55:145-147. doi: 10.1016/j.parkreldis.2018.06.006. PMID: 29910155

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Traschütz A, Hayer SN, Bender B, Schöls L, Biskup S, Synofzik M.
TSFM mutations cause a complex hyperkinetic movement disorder with strong relief by cannabinoids. Parkinsonism Relat Disord. 2018 Sep 29. pii: S1353-8020(18)30427-9. doi: 10.1016/j.parkreldis.2018.09.031. [Epub ahead of print] No abstract available. PMID: 30297209 [PubMed – as supplied by publisher].

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Fan C, Kuhn M, Mbiol AP, Groome J, Winston V, Biskup S, Lehmann-Horn F, Jurkat-Rott K.
Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis. Acta Myol. 2018 Sep 1;37(3):193-203. eCollection 2018 Sep. PMID: 30838349 [PubMed – in process]

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Roovers EF, Kaaij LJT, Redl S, Bronkhorst AW, Wiebrands K, de Jesus Domingues AM, Huang HY, Han CT, Riemer S, Dosch R, Salvenmoser W, Grün D, Butter F, van Oudenaarden A, Ketting RF. Tdrd6a Regulates the Aggregation of Buc into Functional Subcellular Compartments that Drive Germ Cell Specification. Dev Cell. 2018 Aug 6;46(3):285-301.e9. doi: 10.1016/j.devcel.2018.07.009. PMID: 30086300 [PubMed – in process].

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Weisschuh N, Stingl K, Audo I, Biskup S, Bocquet B, Branham K, Burstedt MS, De Baere E, De Vries MJ, Golovleva I, Green A, Heckenlively J, Leroy BP, Meunier I, Traboulsi E, Wissinger B, Kohl S. Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia. Hum Mutat. 2018 Aug 6. doi: 10.1002/humu.23606. [Epub ahead of print] PMID: 30080950 [PubMed – as supplied by publisher].

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Rydning SL, Dudesek A, Rimmele F, Funke C, Krüger S, Biskup S, Vigeland MD, Hjorthaug HS, Sejersted Y, Tallaksen C, Selmer KK, Kamm C.
A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia. Eur J Neurol. 2018 Jul;25(7):943-e71. doi: 10.1111/ene.13625. Epub 2018 Apr 15. PMID: 29528531 [PubMed – indexed for MEDLINE].

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Ambrosino P, Soldovieri MV, Bast T, Turnpenny PD, Uhrig S, Biskup S, Döcker M, Fleck T, Mosca I, Manocchio L, Iraci N, Taglialatela M, Lemke JR.
De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy.
Annals of Neurology. 2018 Jun;83(6):1198-1204. doi: 10.1002/ana.25248.
PMID: 29740868

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Garrett L, Becker L, Rozman J, Puk O, Stoeger T, Yildirim AÖ, Bohla A, Eickelberg O, Hans W, Prehn C, Adamski J, Klopstock T, Rácz I, Zimmer A, Klingenspor M, Fuchs H, Gailus-Durner V, Wurst W, Hrabě de Angelis M, Graw J, Hölter SM.
Fgf9 ^Y162C Mutation Alters Information Processing and Social Memory in Mice. Mol Neurobiol. 2018 Jun;55(6):4580-4595. doi: 10.1007/s12035-017-0659-3. Epub 2017 Jul 10. PMID: 28695538 [PubMed – indexed for MEDLINE],

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Navarro Moreno C, Delestienne A, Marbaix E, Aydin S, Hörtnagel K, Lechner S, Sznajer Y, Beauloye V, Maiter D, Lysy PA.
Familial Forms of Cushing Syndrome in Primary Pigmented Nodular Adrenocortical Disease Presenting with Short Stature and Insidious Symptoms: A Clinical Series. Horm Res Paediatr. 2018 Jun 15:1-11. doi: 10.1159/000488761. [Epub ahead of print] PMID: 29909407 [PubMed – as supplied by publisher].

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Zobor D, Zobor G, Hipp S, Baumann B, Weisschuh N, Biskup S, Sliesoraityte I, Zrenner E, Kohl S.
Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort. Invest Ophthalmol Vis Sci. 2018 Jun 1;59(7):3041-3052. doi: 10.1167/iovs.18-24033. PMID: 30025130 [PubMed – in process].

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Termühlen J, Alex AF, Glöckle N, Kellner U, Fiedler B, Eter N, Uhlig CE.
A new mutation in enhanced S-cone syndrome. Acta Ophthalmol. 2018 Jun;96(4):e539-e540. doi: 10.1111/aos.13205. Epub 2016 Aug 29. No abstract available. PMID: 27573156 [PubMed – indexed for MEDLINE].

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Nasser F, Weisschuh N, Maffei P, Milan G, Heller C, Zrenner E, Kohl S, Kuehlewein L.
Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene. Acta Ophthalmol. 2018 Jun;96(4):e445-e454. doi: 10.1111/aos.13612. Epub 2017 Nov 30. PMID: 29193673 [PubMed – indexed for MEDLINE].

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Thomas C, Zühlsdorf A, Hörtnagel K, Mulahasanovic L, Grauer OM, Kümpers P, Wiendl H, Meuth SG.
A Novel PKD1 Mutation Associated With Autosomal Dominant Kidney Disease and Cerebral Cavernous Malformation. Front Neurol. 2018 May 25;9:383. doi: 10.3389/fneur.2018.00383. eCollection 2018. PMID: 29887830 [PubMed].

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Pomarino D, Martin S, Pomarino A, Morigeau S, Biskup S.
McArdle’s disease: A differential diagnosis of idiopathic toe walking. J Orthop. 2018 May 8;15(2):685-689. doi: 10.1016/j.jor.2018.05.024. eCollection 2018 Jun. PMID: 29881221 [PubMed].

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v
Wawrocka A, Skorczyk-Werner A, Wicher K, Niedziela Z, Ploski R, Rydzanicz M, Sykulski M, Kociecki J, Weisschuh N, Kohl S, Biskup S, Wissinger B, Krawczynski MR.
Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy. Mol Vis. 2018 Apr 26;24:326-339. eCollection 2018. PMID: 29769798 [PubMed – in process].

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Walter D, Harter PN, Battke F, Winkelmann R, Schneider M, Holzer K, Koch C, Bojunga J, Zeuzem S, Hansmann ML, Peveling-Oberhag J, Waidmann O.
Genetic heterogeneity of primary lesion and metastasis in small intestine neuroendocrine tumors. Sci Rep. 2018 Feb 28;8(1):3811. doi: 10.1038/s41598-018-22115-0. PMID: 29491456 [PubMed – in process].

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Sonntag K, Hashimoto H, Eyrich M, Menzel M, Schubach M, Döcker D, Battke F, Courage C, Lambertz H, Handgretinger R, Biskup S, Schilbach K.
Immune monitoring and TCR sequencing of CD4 T cells in a long term responsive patient with metastasized pancreatic ductal carcinoma treated with individualized, neoepitope-derived multipeptide vaccines: a case report. J Transl Med. 2018 Feb 6;16(1):23. doi: 10.1186/s12967-018-1382-1. PMID: 29409514 [PubMed – in process].

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Wilke C, Baets J, De Bleecker JL, Deconinck T, Biskup S, Hayer SN, Züchner S, Schüle R, De Jonghe P, Synofzik M.
Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes. Neurobiol Aging. 2018 Feb;62:244.e9-244.e13. doi: 10.1016/j.neurobiolaging.2017.10.010. Epub 2017 Oct 24. PMID: 29137817 [PubMed – indexed for MEDLINE].

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Hofstaetter C, Courage C, Bartholdi D, Biskup S, Raio L.
Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report. Clin Case Rep. 2018 Jan 17;6(2):420-425. doi: 10.1002/ccr3.1368. eCollection 2018 Feb. PMID: 29445489 [PubMed].

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Schänzer A, Rupp S, Gräf S, Zengeler D, Jux C, Akintürk H, Gulatz L, Mazhari N, Acker T, Van Coster R, Garvalov BK, Hahn A.
Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3.
Mol Genet Metab. 2018 Jan 6. pii: S1096-7192(17)30596-6. doi: 10.1016/j.ymgme.2018.01.001. [Epub ahead of print] PMID: 29338979 [PubMed – as supplied by publisher].

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Mitter D, Pringsheim M, Kaulisch M, Plümacher KS, Schröder S, Warthemann R, Abou Jamra R, Baethmann M, Bast T, Büttel HM, Cohen JS, Conover E, Courage C, Eger A, Fatemi A, Grebe TA, Hauser NS, Heinritz W, Helbig KL, Heruth M, Huhle D, Höft K, Karch S, Kluger G, Korenke GC, Lemke JR, Lutz RE, Patzer S, Prehl I, Hoertnagel K, Ramsey K, Rating T, Rieß A, Rohena L, Schimmel M, Westman R, Zech FM, Zoll B, Malzahn D, Zirn B, Brockmann K.
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants. Genet Med. 2018 Jan;20(1):98-108. doi: 10.1038/gim.2017.75. Epub 2017 Jun 29. PMID: 28661489 [PubMed – indexed for MEDLINE].

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Tomcikova D, Gerinec A, Busanyova B, Gresikova M, Biskup S, Hortnagel K.
Why is it necessary to examine retina when the patient suffers from aplastic anemia? Bratisl Lek Listy. 2018;119(5):275-277. doi: 10.4149/BLL_2018_051. PMID: 29749240 [PubMed – in process].

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Catarino CB, Vollmar C, Küpper C, Seelos K, Gallenmüller C, Bartkiewicz J, Biskup S, Hörtnagel K, Klopstock T.
Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment. J Neurol. 2017 Dec 19. Doi: 10.1007/s00415-0178711-9. [Epub ahead of print] PMID: 29260356 [PubMed- as supplied by publisher].

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Grzybowski M, Schänzer A, Pepler A, Heller C,Neubauer BA, Hahn A.
Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy. Neuropediatrics. 2017 Dec;48(6):451-455. doi: 10.1055/s-0037-1601868. Epub 2017 Apr 15. PMID: 28411587 [PubMed- as supplied by publisher].

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Dohrn MF, Glöckle N, Mulahasanovic L, Heller C, Mohr J, Bauer C, Riesch E, Becker A, Battke F, Hörtnagel K, Hornemann T, Suriyanarayanan S, Blankenburg M, Schulz JB, Claeys KG, Gess B, Katona I, Ferbert A, Vittore D, Grimm A, Wolking S, Schöls L, Lerche H, Korenke GC, Fischer D, Schrank B, Kotzaeridou U, Kurlemann G, Dräger B, Schirmacher A, Young P, Schlotter-Weigel B, Biskup S.
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies. J Neurochem. 2017 Dec;143(5):507-522. doi: 10.1111/jnc.14217.Epub 2017 Nov 7. PMID:28902413 [PubMed – endexed for MEDLINE].

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Bock AS, Günther S, Mohr J, Goldberg LV, Jahic A, Klisch C, Hübner CA, Biskup S, Beetz C.
A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3’UTR-encoded, aggregation-inducing motif. Hum Mutat. 2017 Nov 9. doi: 10.1002/humu.23369. [Epub ahead of print].

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Niturad CE, Lev D, Kalscheuer VM, Charzewska A, Schubert J, Lerman-Sagie T, Kroes HY, Oegema R, Traverso M, Specchio N, Lassota M, Chelly J, Bennett-Back O, Carmi N, Koffler-Brill T, Iacomino M, Trivisano M, Capovilla G, Striano P, Nawara M, Rzonca S, Fischer U, Bienek M, Jensen C, Hu H, Thiele H, Altmüller J, Krause R, May P, Becker F; EuroEPINOMICS Consortium, Balling R, Biskup S, Haas SA, Nürnberg P, van Gassen KLI, Lerche H, Zara F, Maljevic S, Leshinsky-Silver E.
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.Brain. 2017 Oct 7. doi: 10.1093/brain/awx236. [Epub ahead of print]PMID: 29053855.

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Moawia A, Shaheen R, Rasool S, Waseem SS, Ewida N, Budde B, Kawalia A, Motameny S, Khan K, Fatima A, Jameel M, Ullah F, Akram T, Ali Z, Abdullah U, Irshad S, Höhne W, Noegel AA, Al-Owain M, Hörtnagel K, Stöbe P, Baig SM, Nürnberg P, Alkuraya FS, Hahn A, Hussain MS.
Mutations of KIF14 Cause Primary Microcephaly by Impairing Cytokinesis. Ann Neurol. 2017 Sep 11. doi: 10.1002/ana.25044.

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Syrbe S, Harms FL, Parrini E, Montomoli M, Mütze U, Helbig KL, Polster T, Albrecht B, Bernbeck U, van Binsbergen E, Biskup S, Burglen L, Denecke J, Heron B, Heyne HO, Hoffmann GF, Hornemann F, Matsushige T, Matsuura R, Kato M, Korenke GC, Kuechler A, Lämmer C, Merkenschlager A, Mignot C, Ruf S, Nakashima M, Saitsu H, Stamberger H, Pisano T, Tohyama J, Weckhuysen S, Werckx W, Wickert J, Mari F, Verbeek NE, Møller RS, Koeleman B, Matsumoto N, Dobyns WB, Battaglia D, Lemke JR, Kutsche K, Guerrini R.
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.Brain. 2017 Sep 1;140(9):2322-2336. doi: 10.1093/brain/awx195. PMID: 29050398.

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Catarino CB, Ahting U, Gusic M, Iuso A, Repp B, Peters K, Biskup S, von Livonius B, Prokisch H, Klopstock T.
Characterization of a Leber’s hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA. Mitochondrion. 2017 Sep;36:15-20. doi: 10.1016/j.mito.2016.10.002. Epub 2016 Oct 6. PMID: 27721048 [PubMed – indexed for MEDLINE].

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Hermann A, Kitzler HH, Pollack T, Biskup S, Krüger S, Funke C, Terrile C, Haack TB.
A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of WDR45.Tremor Other Hyperkinet Mov (N Y). 2017 Aug 8;7:465. doi: 10.7916/D8251WB0. eCollection 2017. PMID: 29082105 [PubMed – indexed for MEDLINE].

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Montagnese F, Klupp E, Karampinos DC,Biskup S, Gläser D, Kirschke JS, Schoser B. Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.Muscle Nerve. 2017 Aug;56(2):334-340. doi: 10.1002/mus.25485. Epub 2017 Feb 23.

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Stingl K, Mayer AK, Llavona P, Mulahasanovic L, Rudolph G, Jacobson SG, Zrenner E, Kohl S, Wissinger B, Weisschuh N.
CDHR1 mutations in retinal dystrophies. Sci Rep. 2017 Aug 1;7(1):6992. doi: 10.1038/s41598-017-07117-8.

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Blauwendraat C, Wilke C, Simón-Sánchez J, Jansen IE, Reifschneider A, Capell A, Haass C, Castillo-Lizardo M, Biskup S, Maetzler W, Rizzu P, Heutink P, Synofzik M.
The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects. Genet Med. 2017 Jul 27. doi: 10.1038/gim.2017.102. [Epub ahead of print] PMID: 28749476.

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Smogavec M, Zschüntzsch J, Kress W, Mohr J, Hellen P, Zoll B, Pauli S, Schmidt J.
Novel fukutin mutations in limb-girdle muscular dystrophy type 2M with childhood onset. Neurol Genet. 2017 Jul 10;3(4):e167. doi: 10.1212/NXG.0000000000000167. eCollection 2017 Aug.

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Mitter D, Pringsheim M, Kaulisch M, Plümacher KS, Schröder S, Warthemann R, Abou Jamra R, Baethmann M, Bast T, Büttel HM, Cohen JS, Conover E, Courage C, Eger A, Fatemi A, Grebe TA, Hauser NS, Heinritz W, Helbig KL, Heruth M, Huhle D, Höft K, Karch S, Kluger G, Korenke GC, Lemke JR, Lutz RE, Patzer S, Prehl I, Hoertnagel K, Ramsey K, Rating T, Rieß A, Rohena L, Schimmel M, Westman R, Zech FM, Zoll B, Malzahn D, Zirn B, Brockmann K.
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants. Genet Med. 2017 Jun 29. doi: 10.1038/gim.2017.75. [Epub ahead of print] PMID: 28661489.

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Weber YG, Biskup S, Helbig KL, Von Spiczak S, Lerche H.
The role of genetic testing in epilepsy diagnosis and management. Expert Rev Mol Diagn. 2017 Jun 26:1-12. doi: 10.1080/14737159.2017.1335598. [Epub ahead of print] PMID: 28548558.

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Von Stülpnagel C, Ensslen M, Møller RS, Masnada S, Veggiotti P, Piazza E, Dreesmann M, Hartlieb T, Herberhold T, Hughes E, Koch M, Kutzer C, Hörtnagel K, Nitanda J, Pohl M, Rostásy K, Haack TB, Stöhr K, Kluger G, Borggraefe I.
Epilepsy in patients with GRIN2A alterations: Genetics, neurodevelopment, epileptic phenotype and response to anticonvulsive drugs. Eur J Paediatr Neurol. 2017 May;21(3):530-541. doi: 10.1016/j.ejpn.2017.01.001. Epub 2017 Jan 14. PMID: 28109652 [PubMed – indexed for MEDLINE].

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Feldhaus B, Kohl S, Hörtnagel K, Weisschuh N, Zobor D.
Novel homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family. Ophthalmic Genet. 2017 May 8:1-4. doi: 10.1080/13816810.2017.1318925. PMID: 28424919.

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Grimm A, Winter N, Wolking S, Vittore D, Biskup S, Axer H.
Nerve enlargement in an unusual case of inflammatory neuropathy and new gene mutation-morphology is the key. Ophthalmic Genet. 2017 May 8:1-4. doi: 10.1080/13816810.2017.1318925. PMID: 28481129.

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Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS.
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054. PMID: 28379373.

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Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR.
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. J Med Genet. 2017 Apr 4. pii: jmedgenet-2016-104509. doi: 10.1136/jmedgenet-2016-104509. PMID: 28377535.

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Logeswaran T, Friedburg C, Hofmann K, Akintuerk H, Biskup S, Graef M, Rad A, Weber A, Neubauer BA, Schranz D, Bouvagnet P, Lorenz B, Hahn A. (2017).
Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.Am J Med Genet A. 2017 Apr;173(4):959-965. doi: 10.1002/ajmg.a.38102.

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Hoelz H, Coppenrath E, Hoertnagel K, Roser T, Tacke M, Gerstl L, Borggraefe I,
Childhood-Onset Epileptic Encephalopathy Associated With Isolated Focal Cortical Dysplasia and a Novel TSC1 Germline Mutation.Clin EEG Neurosci. 2017 Mar 1:1550059417697841. doi: 10.1177/1550059417697841. [Epub ahead of print].

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Walter D, Döring C, Feldhahn M, Battke F, Hartmann S, Winkelmann R, Schneider M, Bankov K, Schnitzbauer A, Zeuzem S, Hansmann ML, Peveling-Oberhag J.
Intratumoral heterogeneity of intrahepatic cholangiocarcinoma.Oncotarget. 2017 Feb 28;8(9):14957-14968. doi: 10.18632/oncotarget.14844.PMID: 28146430.

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von Stülpnagel C, Ensslen M, Møller RS, Pal DK, Masnada S, Veggiotti P, Piazza E, Dreesmann M, Hartlieb T, Herberhold T, Hughes E, Koch M, Kutzer C, Hörtnagel K, Nitanda J, Pohl M, Rostásy K, Haack TB, Stöhr K, Kluger G, Borggraefe I. (2017).
Epilepsy in patients with GRIN2A alterations: Genetics, neurodevelopment, epileptic phenotype and response to anticonvulsive drugs. Eur J Paediatr Neurol. 2017 Jan 14. doi: 10.1016/j.ejpn.2017.01.001. PMID: 28109652.

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Michelis JP, Hattingen E, Gaertner FC, Minnerop M, Träber F, Biskup S, Klockgether T, Paus S. (2017).
Expanded phenotype and hippocampal involvement in a novel compound heterozygosity of adult PLA2G6 associated neurodegeneration (PARK14). Parkinsonism Relat Disord. 2017 Jan 10. doi: 10.1016/j.parkreldis.2017.01.005. PMID: 28094106.

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Karin I, Borggraefe I, Catarino CB, Kuhm C, Hörtnagel K, Biskup S, Opladen T, Blau N, Heinen F, Klopstock T. (2017).
Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient. J Neurol. 2017 Jan 4. doi: 10.1007/s00415-016-8387-6. PMID: 28054128.

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Schubert V, Auffenberg E, Biskup S, Jurkat-Rott K, Freilinger T.
Two novel families with hemiplegic migraine caused by recurrent SCN1A mutation p.F1499L. Cephalalgia. 2017 Jan 1:333102417742365. doi: 10.1177/0333102417742365. [Epub ahead of print].

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Bonifert T, Gonzalez Menendez I, Battke F, Theurer Y, Synofzik M, Schöls L, Wissinger B.
Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1.
Mol Ther Nucleic Acids. 2016 Nov 22;5(11):e390. doi: 10.1038/mtna.2016.93.

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Linnebank M, McDougall CG, Krüger S, Biskup S, Neumann M, Weller M, Valavanis A, Prudlo J. (2016).
Novel cases of amyotrophic lateral sclerosis after treatment of cerebral arteriovenous malformationss. Swiss Med Wkly. 2016 Nov 12;146:w14361. doi: 10.4414/smw.2016.14361.

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Krüger S, Battke F, Sprecher A, Munz M, Synofzik M, Schöls L, Gasser T, Grehl T, Prudlo J, Biskup S. (2016).
Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort. Front Mol Neurosci. 2016 Oct 13;9:92. PMID: 27790088.

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Li D, Yuan H, Ortiz-Gonzalez XR, Marsh ED, Tian L, McCormick EM, Kosobucki GJ, Chen W, Schulien AJ, Chiavacci R, Tankovic A, Naase C, Brueckner F, von Stülpnagel-Steinbeis C, Hu C, Kusumoto H, Hedrich UB, Elsen G, Hörtnagel K, Aizenman E, Lemke JR, Hakonarson H, Traynelis SF, Falk MJ. (2016).
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers. Am J Hum Genet. 2016 Oct 6;99(4):802-816. doi: 10.1016/j.ajhg.2016.07.013. PMID: 27616483.

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Mohammad S, Wolfe LA, Stöbe P, Biskup S, Wainwright MS, Melin-Aldana H, Malladi P, Muenke M, Gahl WA, Whitington PF. (2016).
Infantile Cirrhosis, Growth Impairment, and Neurodevelopmental Anomalies Associated with Deficiency of PPP1R15B. J Pediatr. 2016 Sep 15. pii: S0022-3476(16)30722-3. doi: 10.1016/j.jpeds.2016.08.043. PMID: 27640355.

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Hogrebe M, Murakami Y, Wild M, Ahlmann M, Biskup S, Hörtnagel K, Grüneberg M, Reunert J, Linden T, Kinoshita T, Marquardt T. (2016).
A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia. Am J Med Genet A. 2016 Sep 14. doi: 10.1002/ajmg.a.37950. PMID: 27626616.

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Syrbe S, Zhorov BS, Bertsche A, Bernhard MK, Hornemann F, Mütze U, Hoffmann J, Hörtnagel K, Kiess W, Hirsch FW, Lemke JR, Merkenschlager A. (2016).
Phenotypic Variability from Benign Infantile Epilepsy to Ohtahara Syndrome Associated with a Novel Mutation in SCN2A. Mol Syndromol. 2016 Sep;7(4):182-188. PMID: 27781028.

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Johannesen K, Marini C, Pfeffer S, Møller RS, Dorn T, Niturad C, Gardella E, Weber Y, Søndergård M, Hjalgrim H, Nikanorova M, Becker F, Larsen LH, Dahl HA, Maier O, Mei D, Biskup S, Klein KM, Reif PS, Rosenow F, Elias AF, Hudson C, Helbig KL, Schubert-Bast S, Scordo MR, Craiu D, Djémié T, Hoffman-Zacharska D, Caglayan H, Helbig I, Serratosa J, Striano P, De Jonghe P, Weckhuysen S, Suls A, Muru K, Talvik I, Talvik T, Muhle H, Borggraefe I, Rost I, Guerrini R, Lerche H, Lemke JR, Rubboli G, Maljevic S. (2016).
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies. Neurology. 2016 Aug 12. pii: 10.1212/WNL.0000000000003087. PMID: 27521439.

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Hörtnagel K, Krägeloh-Mann I, Bornemann A, Döcker M, Biskup S, Mayrhofer H, Battke F, du Bois G, Harzer K. (2016).
The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement. J Inherit Metab Dis. 2016 Jul 29. PMID: 27473128.

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Soehn AS, Rattay TW, Beck-Wödl S, Schäferhoff K, Monk D, Döbler-Neumann M, Hörtnagel K, Schlüter A, Ruiz M, Pujol A, Züchner S, Riess O, Schüle R, Bauer P, Schöls L. (2016).
Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families. Neurology. 2016 Jul 12;87(2):186-91. doi: 10.1212/WNL.0000000000002843. Epub 2016 Jun 17.

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Balestrini S, Milh M, Castiglioni C, Lüthy K, Finelli MJ, Verstreken P, Cardon A, Stražišar BG, Holder JL Jr, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brockmann K, Cross JH, Doummar D, Félix TM, Giuliano F, Hori M, Hüning I, Kayserili H, Kini U, Lees MM, Meenakshi G, Mewasingh L, Pagnamenta AT, Peluso S, Mey A, Rice GM, Rosenfeld JA, Taylor JC, Troester MM, Stanley CM, Ville D, Walkiewicz M, Falace A, Fassio A, Lemke JR, Biskup S, Tardif J, Ajeawung NF, Tolun A, Corbett M, Gecz J, Afawi Z, Howell KB, Oliver KL, Berkovic SF, Scheffer IE, de Falco FA, Oliver PL, Striano P, Zara F, Campeau PM, Sisodiya SM. (2016).
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features. Neurology.2016 Jul 5;87(1):77-85. doi: 10.1212/WNL.0000000000002807. Epub 2016 Jun 8. PMID: 27281533.

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Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Møller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Strømme P, Dlugos DJ, Doherty ES, Bijlsma EK, Ruivenkamp CA, Hoffer MJ, Goldstein A, Rajan DS, Narayanan V, Ramsey K, Belnap N, Schrauwen I, Richholt R, Koeleman BP, Sá J, Mendonça C, de Kovel CG, Weckhuysen S, Hardies K, De Jonghe P, De Meirleir L, Milh M, Badens C, Lebrun M, Busa T, Francannet C, Piton A, Riesch E, Biskup S, Vogt H, Dorn T, Helbig I, Michaud JL, Laube B, Syrbe S. (2016).
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. Neurology. 2016 May 6. pii: 10.1212/WNL.0000000000002740.

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Rempe T, Kuhlenbäumer G, Krüger S, Biskup S, Matschke J, Hagel C, Deuschl G, van Eimeren T. (2016).
Early-onset parkinsonism due to compound heterozygous POLG mutations. Parkinsonism Relat Disord. 2016 Apr 27. pii: S1353-8020(16)30124-9. doi: 10.1016/j.parkreldis.2016.04.020.

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Mignot C, von Stülpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, Rastetter A, Gachet B, Marie Y, Korenke GC, Borggraefe I, Hoffmann-Zacharska D, Szczepanik E, Rudzka-Dybała M, Yiş U, Çağlayan H, Isapof A, Marey I, Panagiotakaki E, Korff C, Rossier E, Riess A, Beck-Woedl S, Rauch A, Zweier C, Hoyer J, Reis A, Mironov M, Bobylova M, Mukhin K, Hernandez-Hernandez L, Maher B, Sisodiya S, Kuhn M, Glaeser D, Wechuysen S, Myers CT, Mefford HC, Hörtnagel K, Biskup S; EuroEPINOMICS-RES MAE working group, Lemke JR, Héron D, Kluger G, Depienne C. (2016).
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. J Med Genet. 2016 Mar 17. pii: jmedgenet-2015-103451. doi: 10.1136/jmedgenet-2015-103451.

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Fradin M, Colin E, Hannouche-Bared D, Audo I, Sahel JA, Biskup S, Carré W, Ziegler A, Wilhelm C, Guichet A, Odent S, Bonneau D. (2016).
Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45. Ophthalmic Genet. 2016 Feb 22:1-4.

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Wilke C, Pomper JK, Biskup S, Puskás C, Berg D, Synofzik M. (2016).
Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature. J Neurol. 2016 Jan 25. PMID: 26810719.

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Wilke C, Gillardon F, Deuschle C, Dubois E, Hobert MA, Vom Hagen JM, Krüger S, Biskup S, Blauwendraat C, Hruscha M, Kaeser SA, Heutink P, Maetzler W, Synofzik M. (2016).
Serum Levels of Progranulin Do Not Reflect Cerebrospinal Fluid Levels in Neurodegenerative Disease. Curr Alzheimer Res. 2016;13(6):654-62.

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Gardella E, Becker F, Møller RS, Schubert J, Lemke JR, Larsen LH, Eiberg H, Nothnagel M, Thiele H, Altmüller J, Syrbe S, Merkenschlager A, Bast T, Steinhoff B, Nürnberg P, Mang Y, Bakke Møller L, Gellert P, Heron S, Dibbens L, Weckhuysen S, Dahl HA, Biskup S, Tommerup N, Hjalgrim H, Lerche H, Beniczky S, Weber YG. (2015).
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. Ann Neurol. 2015 Dec 17. doi: 10.1002/ana.24580.

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Schwarz N, Hahn A, Bast T, Müller S, Löffler H, Maljevic S, Gaily E, Prehl I, Biskup S, Joensuu T, Lehesjoki AE, Neubauer BA, Lerche H, Hedrich UB (2015).
Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia. J Neurol. 2015 Dec 8. PMID: 26645390.

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Park JH, Hogrebe M, Grüneberg M, DuChesne I, von der Heiden AL, Reunert J, Schlingmann KP, Boycott KM, Beaulieu CL, Mhanni AA, Innes AM, Hörtnagel K, Biskup S, Gleixner EM, Kurlemann G, Fiedler B, Omran H, Rutsch F, Wada Y, Tsiakas K, Santer R, Nebert DW, Rust S, Marquardt T (2015).
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation. Am J Hum Genet. 2015 Dec 3;97(6):894-903. doi: 10.1016/j.ajhg.2015.11.003.

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Pilotto A, Schulte C, Hauser AK, Biskup S, Munz M, Brockmann K, Schaeffer E, Synofzik M, Maetzler W, Suenkel U, Srulijes K, Gasser T, Berg D (2015).
GBA-associated parkinsonism and dementia: beyond α-synucleinopathies? Eur J Neurol. 2015 Nov 9. doi: 10.1111/ene.12894. PMID: 26549049.

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Peveling-Oberhag J, Wolters F, Döring C, Walter D, Sellmann L, Scholtysik R, Lucioni M, Schubach M, Paulli M, Biskup S, Zeuzem S, Küppers R, Hansmann ML. (2015).
Whole exome sequencing of microdissected splenic marginal zone lymphoma: a study to discover novel tumor-specific mutations. BMC Cancer. 2015 Oct 24;15:773. doi: 10.1186/s12885-015-1766-z.

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Emami Riedmaier A, Burk O, van Eijck BA, Schaeffeler E, Klein K, Fehr S, Biskup S, Müller S, Winter S, Zanger UM, Schwab M, Nies AT. (2015).
Variability in hepatic expression of organic anion transporter 7/SLC22A9, a novel pravastatin uptake transporter: impact of genetic and regulatory factors. Pharmacogenomics J. 2015 Aug 4. doi: 10.1038/tpj.2015.55.

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von Stülpnagel C, Funke C, Haberl C, Hörtnagel K, Jüngling J, Weber YG, Staudt M, Kluger G. (2015).
SYNGAP1 Mutation in Focal and Generalized Epilepsy: A Literature Overview and A Case Report with Special Aspects of the EEG. Neuropediatrics. 2015 Aug;46(4):287-91. doi: 10.1055/s-0035-1554098. PMID: 26110312.

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Srivastava S, Engels H, Schanze I, Cremer K, Wieland T, Menzel M, Schubach M, Biskup S, Kreiß M, Endele S, Strom TM, Wieczorek D, Zenker M, Gupta S, Cohen J, Zink AM, Naidu S. (2015). Loss-of-function variants in HIVEP2 are a cause of intellectual disability. Eur J Hum Genet. 2015 Jul 8. doi: 10.1038/ejhg.2015.151.

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Meyer-Ohlendorf M, Braczynski A, Al-Qaisi O, Gessler F, Biskup S, Weise L, Steinbach JP, Wagner M, Mittelbronn M, Bähr O. (2015).
Comprehensive diagnostics in a case of hereditary diffuse leukodystrophy with spheroids. BMC Neurol. 2015 Jul 4;15:103. doi: 10.1186/s12883-015-0368-3.

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Lohmann E, Krüger S, Hauser AK, Hanagasi H, Guven G, Erginel-Unaltuna N, Biskup S, Gasser T (2015).
Clinical variability in ataxia-telangiectasia. J Neurol. 2015 May 10.

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Moog U, Bierhals T, Brand K, Bautsch J, Biskup S, Brune T, Denecke J, de Die-Smulders CE, Evers C, Hempel M, Henneke M, Yntema H, Menten B, Pietz J, Pfundt R, Schmidtke J, Steinemann D, Stumpel CT, Van Maldergem L, Kutsche K (2015).
Phenotypic and molecular insights into CASK-related disorders in males. Orphanet J Rare Dis. 2015 Apr 12;10(1):44.

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Stendel C, Gallenmüller C, Peters K, Bürger F, Gramer G, Biskup S, Klopstock T (2015).
Paranoid delusion as lead symptom in two siblings with late-onset Tay-Sachs disease and a novel mutation in the HEXA gene. J Neurol. 2015 Apr;262(4):1072-3. doi: 10.1007/s00415-015-7729-0.

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Garcia-Miralles M, Coomaraswamy J, Häbig K, Herzig MC, Funk N, Gillardon F, Maisel M, Jucker M, Gasser T, Galter D, Biskup S (2015).
No Dopamine Cell Loss or Changes in Cytoskeleton Function in Transgenic Mice Expressing Physiological Levels of Wild Type or G2019S Mutant LRRK2 and in Human Fibroblasts. PLoS One. 2015 Apr 1;10(4):e0118947. doi: 10.1371/journal.pone.0118947.

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Dörre K, Olczak M, Wada Y, Sosicka P, Grüneberg M, Reunert J, Kurlemann G, Fiedler B, Biskup S, Hörtnagel K, Rust S, Marquardt T (2015).
A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach. J Inherit Metab Dis. 2015 Mar 17. PMID: 25778940.

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Syrbe S, Hedrich UB, Riesch E, Djémié T, Müller S, Møller RS, Maher B, Hernandez-Hernandez L, Synofzik M, Caglayan HS, Arslan M, Serratosa JM, Nothnagel M, May P, Krause R, Löffler H, Detert K, Dorn T, Vogt H, Krämer G, Schöls L, Mullis PE, Linnankivi T, Lehesjoki AE, Sterbova K, Craiu DC, Hoffman-Zacharska D, Korff CM, Weber YG, Steinlin M, Gallati S, Bertsche A, Bernhard MK, Merkenschlager A, Kiess W; EuroEPINOMICS RES, Gonzalez M, Züchner S, Palotie A, Suls A, De Jonghe P, Helbig I, Biskup S, Wolff M, Maljevic S, Schüle R, Sisodiya SM, Weckhuysen S, Lerche H, Lemke JR (2015). De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. Nat Genet. 2015 Mar 9. doi: 10.1038/ng.3239.

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Kettwig M, Schubach M, Zimmermann FA, Klinge L, Mayr JA, Biskup S, Sperl W, Gärtner J, Huppke P. (2015).
From ventriculomegaly to severe muscular atrophy: Expansion of the clinical spectrum related to mutations in AIFM1. Mitochondrion. 2015 Mar;21:12-8. doi: 10.1016/j.mito.2015.01.001. Epub 2015 Jan 10.

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Kurzwelly D, Krüger S, Biskup S, Heneka MT. (2015).
A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation. Brain. 2015 Feb 12. pii: awv014.

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Santos-Silva R, Passas A, Rocha C, Figueiredo R, Mendes-Ribeiro J, Fernandes S, Biskup S, Leão M. (2015).
Bilateral Frontoparietal Polymicrogyria: A Novel GPR56 Mutation and an Unusual Phenotype. Neuropediatrics. 2015 Feb 2. PMID: 25642806.

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D’Adamo MC, Gallenmüller C, Servettini I, Hartl E, Tucker SJ, Arning L, Biskup S, Grottesi A, Guglielmi L, Imbrici P, Bernasconi P, Di Giovanni G, Franciolini F, Catacuzzeno L, Pessia M, Klopstock T. (2015).
Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene. Front Physiol. 2015 Jan 15;5:525. doi: 10.3389/fphys.2014.00525. eCollection 2014.

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Kuhm C, Gallenmüller C, Dörk T, Menzel M, Biskup S, Klopstock T (2015).
Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia. J Neurol. 2015 Jan 9. PMID: 25572163.

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Larsen J, Carvill GL, Gardella E, Kluger G, Schmiedel G, Barisic N, Depienne C, Brilstra E, Mang Y, Nielsen JE, Kirkpatrick M, Goudie D, Goldman R, Jähn JA, Jepsen B, Gill D, Döcker M, Biskup S, McMahon JM, Koeleman B, Harris M, Braun K, de Kovel CG, Marini C, Specchio N, Djémié T, Weckhuysen S, Tommerup N, Troncoso M, Troncoso L, Bevot A, Wolff M, Hjalgrim H, Guerrini R, Scheffer IE, Mefford HC, Møller RS; On behalf of the EuroEPINOMICS RES Consortium CRP (2015).
The phenotypic spectrum of SCN8A encephalopathy. Neurology. 2015 Jan 7. pii: 10.1212/WNL.0000000000001211.

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Gadzicki D, Döcker D, Schubach M, Menzel M, Schmorl B, Stellmer F, Biskup S, Bartholdi D (2014).
Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability. Clin Genet. 2014 Dec 18. doi: 10.1111/cge.12544.

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Keller A, Meese E, Durand C, Biskup S (2015).
Nucleic Acids as Molecular Diagnostics, Chapter 12: Genome, Exome, and Gene Panel Sequencing in a Clinical Setting. Wiley-VCH Verlag GmbH & Co KGaA

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Pera J, Lechner S, Biskup S, Strach M, Grodzicki T, Slowik A. (2014).
Two novel mutations of the SETX gene and ataxia with oculomotor apraxia type 2. Clin Neurol Neurosurg. 2014 Nov 6;128C:44-46. doi: 10.1016/j.clineuro.2014.10.024.

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Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, Suls A, Lemke JR, de Kovel CG, Thiele H, Konrad K, Kawalia A, Toliat MR, Sander T, Rüschendorf F, Caliebe A, Nagel I, Kohl B, Kecskés A, Jacmin M, Hardies K, Weckhuysen S, Riesch E, Dorn T, Brilstra EH, Baulac S, Møller RS, Hjalgrim H, Koeleman BP; EuroEPINOMICS RES Consortium, Jurkat-Rott K, Lehman-Horn F, Roach JC, Glusman G, Hood L, Galas DJ, Martin B, de Witte PA, Biskup S, De Jonghe P, Helbig I, Balling R, Nürnberg P, Crawford AD, Esguerra CV, Weber YG, Lerche H (2014). Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. Nat Genet. 2014 Nov 2. doi: 10.1038/ng.3130.

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Bender B, Klose U, Lindig T, Biskup S, Nägele T, Schöls L, Karle KN (2014).
Imaging features in conventional MRI, spectroscopy and diffusion weighted images of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).
J Neurol. 2014 Sep 20.

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Tacik P, Loens S, Schrader C, Gayde-Stephan S, Biskup S, Dressler D (2014). Severe familial paroxysmal exercise-induced dyskinesia.
J Neurol. 2014 Aug 7.

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Walker MD, Volta M, Cataldi S, Dinelle K, Beccano-Kelly D, Munsie L, Kornelsen R, Mah C, Chou P, Co K, Khinda J, Mroczek M, Bergeron S, Yu K, Cao LP, Funk N, Ott T, Galter D, Riess O, Biskup S, Milnerwood AJ, Stoessl AJ, Farrer MJ, Sossi V (2014).
Behavioral Deficits and Striatal DA Signaling in LRRK2 p.G2019S Transgenic Rats: A Multimodal Investigation Including PET Neuroimaging. J Parkinsons Dis. 2014 Jul 7.

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Döcker D, Schubach M, Menzel M, Spaich C, Gabriel HD, Zenker M, Bartholdi D, Biskup S (2014).
Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) – pure coincidence? Eur J Hum Genet. 2014 Jun 18. doi: 10.1038/ejhg.2014.118.

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Shaikhibrahim Z, Offermann A, Braun M, Menon R, Syring I, Nowak M, Halbach R, Vogel W, Ruiz C, Zellweger T, Rentsch C, Svensson M, Andren O, Bubendorf L, Biskup S, Duensing S, Kirfel J, Perner S (2014).
MED12 overexpression is a frequent event in castration-resistant prostate cancer. Endocr Relat Cancer. 2014 Jun 17. pii: ERC-14-0171.

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Levin J, Tiedt S, Arzberger T, Biskup S, Schuberth M, Stenglein-Krapf G, Kreth FW, Högen T, la Fougère C, Linn J, van der Knaap MS, Giese A, Kretzschmar HA, Danek A (2014).
Diffuse leukoencephalopathy with spheroids: Biopsy findings and a novel mutation. Clin Neurol Neurosurg. 2014 Jul;122:113-5. doi: 10.1016/j.clineuro.2014.04.022. Epub 2014 May 4.

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Engeholm M, Sekler J, Schöndorf DC, Arora V, Schittenhelm J, Biskup S, Schell C, Gasser T (2014).
A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance. BMC Neurol. 2014 Jun 3;14(1):118. doi: 10.1186/1471-2377-14-118.

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Brueckner F, Kohl B, Puest B, Gassner S, Osseforth J, Lindenau M, Stodieck S, Biskup S, Lohmann E (2014).
Unusual variability of PRRT2 linked phenotypes within a family. Eur J Paediatr Neurol. 2014 Jul;18(4):540-2. doi: 10.1016/j.ejpn.2014.03.012. Epub 2014 Apr 8.

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Schuberth M, Levin J, Sawalhe D, Schwarzkopf R, von Baumgarten L, Ertl-Wagner B, Rominger A, Arzberger T, Kretzschmar HA, Froböse T, Diehl-Schmid J, Biskup S, Danek A (2014).
Hereditary diffuse leukencephalopathy with spheroids: a microgliopathy due to CSF1 receptor impairment. Nervenarzt. 2014 Apr;85(4):465-70. doi: 10.1007/s00115-014-4052-4. German.

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Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, Dechene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzy Ski P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, Macarthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, Deluca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovre I L, Palanda I A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM (2014).
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014 Mar 25;15(3):R53.

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Mitra S, Förster-Fromme K, Damms-Machado A, Scheurenbrand T, Biskup S, Huson DH, Bischoff SC (2013).
Analysis of the intestinal microbiota using SOLiD 16S rRNA gene sequencing and SOLiD shotgun sequencing. BMC Genomics. 2013;14 Suppl 5:S16. doi: 10.1186/1471-2164-14-S5-S16. Epub 2013 Oct 16.

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Shaikhibrahim Z, Menon R, Braun M, Offermann A, Queisser A, Boehm D, Vogel W, Rüenauver K, Ruiz C, Zellweger T, Svensson M, Andren O, Kristiansen G, Wernert N, Bubendorf L, Kirfel J, Biskup S, Perner S (2014).
MED15, encoding a subunit of the mediator complex, is overexpressed at high frequency in castration-resistant prostate cancer. Int J Cancer. 2014 Jul 1;135(1):19-26. doi: 10.1002/ijc.28647. Epub 2013 Dec 9.

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Synofzik M, Born C, Rominger A, Lummel N, Schöls L, Biskup S, Schüle C, Grasshoff U, Klopstock T, Adamczyk C (2013).
Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron disease. Neurobiol Aging. 2014 May;35(5):1212.e1-5. doi: 10.1016/j.neurobiolaging.2013.10.092. Epub 2013 Oct 29.

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Zils K, Wirth T, Loff S, Biskup S, von Kalle T, Bielack S (2014).
Multiple metachronous osteosarcomas in a patient with Li-Fraumeni syndrome. Pediatr Hematol Oncol. 2014 May;31(4):359-61. doi: 10.3109/08880018.2013.848388. Epub 2013 Nov 25.

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Stafa K, Tsika E, Moser R, Musso A, Glauser L, Jones A, Biskup S, Xiong Y, Bandopadhyay R, Dawson VL, Dawson TM, Moore DJ (2014).
Functional interaction of Parkinson’s disease-associated LRRK2 with members of the dynamin GTPase superfamily. Hum Mol Genet. 2014 Apr 15;23(8):2055-77. doi: 10.1093/hmg/ddt600. Epub 2013 Nov 26.

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Ganos C, Biskup S, Krüger S, Meyer-Osores A, Hodecker S, Hagel C, Schöls L, Bhatia KP, Münchau A (2014).
Dystonia with aphonia, slow horizontal saccades, epilepsy and photic myoclonus: a novel syndrome? Parkinsonism Relat Disord. 2014 Mar;20(3):328-31. doi: 10.1016/j.parkreldis.2013.11.011. Epub 2013 Nov 27.

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Mallaret M, Lagha-Boukbiza O, Biskup S, Namer IJ, Rudolf G, Anheim M, Tranchant C (2013).
SPG15: a cause of juvenile atypical levodopa responsive parkinsonism.J Neurol. 2014 Feb;261(2):435-7. doi: 10.1007/s00415-013-7216-4. Epub 2013 Dec 24.

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Law BM, Spain VA, Leinster VH, Chia R, Beilina A, Cho HJ, Taymans JM, Urban MK, Sancho RM, Ramírez MB, Biskup S, Baekelandt V, Cai H, Cookson MR, Berwick DC, Harvey K (2014). A direct interaction between leucine-rich repeat kinase 2 and specific β-tubulin isoforms regulates tubulin acetylation. J Biol Chem. 2014 Jan 10;289(2):895-908. doi: 10.1074/jbc.M113.507913. Epub 2013 Nov 25.

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Lemke JR, Kernland-Lang K, Hörtnagel K, Itin P. (2014).
Monogenic human skin disorders. Dermatology. 2014;229(2):55-64. doi: 10.1159/000362200. PMID: 25012694.

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Döcker D, Schubach M, Menzel M, Munz M, Spaich C, Biskup S, Bartholdi D (2013).
Further delineation of the SATB2 phenotype. Eur J Hum Genet. 2013 Dec 4. doi: 10.1038/ejhg.2013.280.

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Lemke JR, Hendrickx R, Geider K, Laube B, Schwake M, Harvey RJ, James VM, Pepler A, Steiner I, Hörtnagel K, Neidhardt J, Ruf S, Wolff M, Bartholdi D, Caraballo R, Platzer K, Suls A, Jonghe PD, Biskup S, Weckhuysen S (2013).
GRIN2B mutations in west syndrome and intellectual disability with focal epilepsy. Ann Neurol. 2013 Nov 23. doi: 10.1002/ana.24073.

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Faletra F, D’Adamo AP, Bruno I, Athanasakis E, Biskup S, Esposito L, Gasparini P (2013).
Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene. Am J Med Genet A. 2013 Nov 22. doi: 10.1002/ajmg.a.36165.

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Karle KN, Biskup S, Schüle R, Schweitzer KJ, Krüger R, Bauer P, Bender B, Nägele T, Schöls L (2013).
De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS). Neurology. 2013 Nov 6.

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Menon R, Deng M, Rüenauver K, Queisser A, Offermann A, Boehm D, Vogel W, Scheble V, Fend F, Kristiansen G, Wernert N, Oberbeckmann N, Biskup S, Rubin MA, Shaikhibrahim Z, Perner S (2013).
Somatic copy number alterations by whole exome sequencing implicates YWHAZ and PTK2 in castration-resistant prostate cancer. J Pathol. 2013 Sep 23. doi: 10.1002/path.4274.

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Lemke JR, Lal D, Reinthaler EM, Steiner I, Nothnagel M, Alber M, Geider K, Laube B, Schwake M, Finsterwalder K, Franke A, Schilhabel M, Jähn JA, Muhle H, Boor R, Van Paesschen W, Caraballo R, Fejerman N, Weckhuysen S, De Jonghe P, Larsen J, Møller RS, Hjalgrim H, Addis L, Tang S, Hughes E, Pal DK, Veri K, Vaher U, Talvik T, Dimova P, López RG, Serratosa JM, Linnankivi T, Lehesjoki AE, Ruf S, Wolff M, Buerki S, Wohlrab G, Kroell J, Datta AN, Fiedler B, Kurlemann G, Kluger G, Hahn A, Haberlandt DE, Kutzer C, Sperner J, Becker F, Weber YG, Feucht M, Steinböck H, Neophythou B, Ronen GM, Gruber-Sedlmayr U, Geldner J, Harvey RJ, Hoffmann P, Herms S, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Wilhelm C, Stephani U, Helbig I, Lerche H, Zimprich F, Neubauer BA, Biskup S, von Spiczak S (2013).
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet. 2013 Aug 11. doi: 10.1038/ng.2728.

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Hoefele J, Wilhelm C, Schiesser M, Mack R, Heinrich U, Weber LT, Biskup S, Daumer-Haas C, Klein HG, Rost I (2013)
Expanding the mutation spectrum for Fraser syndrome: Identification of a novel heterozygous deletion in FRAS1. Gene. 2013 May 15;520(2):194-7.

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Glöckle N, Kohl S, Mohr J, Scheurenbrand T, Sprecher A, Weisschuh N, Bernd A, Rudolph G, Schubach M, Poloschek C, Zrenner E, Biskup S, Berger W, Wissinger B, Neidhardt J (2013). Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.Eur J Hum Genet. 2013 Apr 17. doi: 10.1038/ejhg.2013.72

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Biskup S (2013). Handbook of Research on ICTs and Management Systems for Improving Efficiency in Healthcare and Social Care (2 Volumes). Chapter 47: ICT Aspects of Next-Generation-Sequencing Applied to Molecular Diagnostics. 2013 Apr. doi: 10.4018/978-1-4666-3990-4.ch047.

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Ganos C, Biskup S, Kleinmichel S, Zittel S, Schunke O, Gerloff C, Münchau A (2013).
Progressive ataxia associated with scarring skin lesions and vertical gaze palsy. Mov Disord. 2013 Apr;28(4):443-5.

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Sampaio M, Rocha R, Biskup S, Leão M (2013).
Novel STXBP1 Mutations in 2 Patients With Early Infantile Epileptic Encephalopathy. J Child Neurol. 2013 Mar 26.

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Schicks J, Müller Vom Hagen J, Bauer P, Beck-Wödl S, Biskup S, Krägeloh-Mann I, Schöls L, Synofzik M (2013).
Niemann-pick type c is frequent in adult ataxia with cognitive decline and vertical gaze palsy. Neurology. Mar 19;80(12):1169-70.

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Synofzik M, Soehn AS, Gburek-Augustat J, Schicks J, Karle KN, Schüle R, Haack TB, Schöning M, Biskup S, Rudnik-Schöneborn S, Senderek J, Hoffmann KT, Macleod P, Schwarz J, Bender B, Krüger S, Kreuz F, Bauer P, Schöls L (2013).
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. Orphanet J Rare Dis. 2013 Mar 15;8:41.

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Funk N, Wieghofer P, Grimm S, Schaefer R, Bühring HJ, Gasser T, Biskup S (2013).
Characterization of peripheral hematopoietic stem cells and monocytes in Parkinson’s disease. Mov Disord. 2013 Mar;28(3):392-5.

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Kohl S, Biskup S (2013).
Genetic Diagnostic Testing in Inherited Retinal Dystrophies. Klin Monbl Augenheilkd. 2013 Mar;230(3):243-6.

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Synofzik M, Maetzler W, Grehl T, Prudlo J, Vom Hagen JM, Haack T, Rebassoo P, Munz M, Schöls L, Biskup S (2012).
Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype. Neurobiol Aging. 2012 Dec;33(12):2949.e13-7.

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Winter P, Kamm C, Biskup S, Köhler A, Leube B, Auburger G, Gasser T, Benecke R, Müller U (2012).
DYT7 gene locus for cervical dystonia on chromosome 18p is questionable. Mov Disord. Dec;27(14):1819-21.

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Synofzik M, Biskup S, Leyhe T, Reimold M, Fallgatter AJ, Metzger F (2012).
Suicide attempt as the presenting symptom of c9orf72 dementia. Am J Psychiatry. 2012 Nov 1;169(11):1211-3.

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Lemke JR, Riesch E, Scheurenbrand T, Schubach M, Wilhelm C, Steiner I, Hansen J, Courage C, Gallati S, Bürki S, Strozzi S, Simonetti BG, Grunt S, Steinlin M, Alber M, Wolff M, Klopstock T, Prott EC, Lorenz R, Spaich C, Rona S, Lakshminarasimhan M, Kröll J, Dorn T, Krämer G, Synofzik M, Becker F, Weber YG, Lerche H, Böhm D, Biskup S (2012).
Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia. 2012 Aug;53(8):1387-98.

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Synofzik M, Ronchi D, Keskin I, Basak AN, Wilhelm C, Gobbi C, Birve A, Biskup S, Zecca C, Fernández-Santiago R, Kaugesaar T, Schöls L, Marklund SL, Andersen PM (2012).
Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS. Hum Mol Genet. 2012 Aug 15;21(16):3568-74.

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Biskup S, Gasser T (2012).
Genetic testing in neurological diseases. J Neurol. 2012 Jun;259(6):1249-54.

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Daher JP, Pletnikova O, Biskup S, Musso A, Gellhaar S, Galter D, Troncoso JC, Lee MK, Dawson TM, Dawson VL, Moore DJ (2012).
Neurodegenerative phenotypes in an A53T α-synuclein transgenic mouse model are independent of LRRK2. Hum Mol Genet. 2012 Jun 1;21(11):2420-31.

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Synofzik M, Hagen JM, Biskup S, Schöls L (2012).
D90A-SOD1 ALS mimicking monoclonal gammopathy-associated ALS. Amyotroph Lateral Scler. 2012 May;13(3):326-7.

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Menon R, Deng M, Boehm D, Braun M, Fend F, Boehm D, Biskup S, Perner S (2012).
Exome Enrichment and SOLiD Sequencing of Formalin Fixed Paraffin Embedded (FFPE) Prostate Cancer Tissue. Int J Mol Sci. 2012;13(7):8933-42.

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Synofzik M, Schicks J, Lindig T, Biskup S, Schmidt T, Hansel J, Lehmann-Horn F, Schöls L (2011).
Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation. J Med Genet. 2011 Oct;48(10):713-5.

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Biskup S (2010).
Hochdurchsatz-Sequenzierung in der Humangenetischen Diagnostik / Next-generation sequencing in genetic diagnostics. Journal of Laboratory Medicine. Nov, Band 34, Nr. 6, 305-309.

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Haack TB, Danhauser K, Haberberger B, Hoser J, Strecker V, Boehm D, Uziel G, Lamantea E, Invernizzi F, Poulton J, Rolinski B, Iuso A, Biskup S, Schmidt T, Mewes HW, Wittig I, Meitinger T, Zeviani M, Prokisch H. (2010).
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat Genet. 2010 Dec;42(12):1131-4.

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Haebig K, Gloeckner CJ, Miralles MG, Gillardon F, Schulte C, Riess O, Ueffing M, Biskup S, Bonin M. (2010).
ARHGEF7 (BETA-PIX) Acts as Guanine Nucleotide Exchange Factor for Leucine-Rich Repeat Kinase 2. PLoS One. 29;5(10):e13762.