Identification of pathogenic variant enriched regions across genes and gene families
Pérez-Palma, Eduardo, May, Patrick, Iqbal, Sumaiya, Niestroj, Lisa-Marie, Du, Juanjiangmeng, Heyne, Henrike O, Castrillon, Jessica A, O'Donnell-Luria, Anne, Nürnberg, Peter, Palotie, Aarno, Daly, Mark, Lal, Dennis
Published in Genome research (01.01.2020)
Published in Genome research (01.01.2020)
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Journal Article
Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Associated with Dupuytren's Disease
Becker, Kerstin, Siegert, Sabine, Toliat, Mohammad Reza, Du, Juanjiangmeng, Casper, Ramona, Dolmans, Guido H, Werker, Paul M, Tinschert, Sigrid, Franke, Andre, Gieger, Christian, Strauch, Konstantin, Nothnagel, Michael, Nürnberg, Peter, Hennies, Hans Christian
Published in PloS one (28.07.2016)
Published in PloS one (28.07.2016)
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Journal Article
SCN1A variants from bench to bedside—improved clinical prediction from functional characterization
Brunklaus, Andreas, Schorge, Stephanie, Smith, Alexander D., Ghanty, Ismael, Stewart, Kirsty, Gardiner, Sarah, Du, Juanjiangmeng, Pérez‐Palma, Eduardo, Symonds, Joseph D., Collier, Abby C., Lal, Dennis, Zuberi, Sameer M.
Published in Human mutation (01.02.2020)
Published in Human mutation (01.02.2020)
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Journal Article
Biological concepts in human sodium channel epilepsies and their relevance in clinical practice
Brunklaus, Andreas, Du, Juanjiangmeng, Steckler, Felix, Ghanty, Ismael I., Johannesen, Katrine M., Fenger, Christina Dühring, Schorge, Stephanie, Baez‐Nieto, David, Wang, Hao‐Ran, Allen, Andrew, Pan, Jen Q., Lerche, Holger, Heyne, Henrike, Symonds, Joseph D., Zuberi, Sameer M., Sanders, Stephan, Sheidley, Beth R., Craiu, Dana, Olson, Heather E., Weckhuysen, Sarah, DeJonge, Peter, Helbig, Ingo, Van Esch, Hilde, Busa, Tiffany, Milh, Matthieu, Isidor, Bertrand, Depienne, Christel, Poduri, Annapurna, Campbell, Arthur J., Dimidschstein, Jordane, Møller, Rikke S., Lal, Dennis
Published in Epilepsia (Copenhagen) (01.03.2020)
Published in Epilepsia (Copenhagen) (01.03.2020)
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Journal Article
Guideline‐based and bioinformatic reassessment of lesion‐associated gene and variant pathogenicity in focal human epilepsies
Niestroj, Lisa‐Marie, Du, Juanjiangmeng, Nothnagel, Michael, May, Patrick, Palotie, Aarno, Daly, Mark J., Nürnberg, Peter, Blümcke, Ingmar, Lal, Dennis
Published in Epilepsia (Copenhagen) (01.11.2018)
Published in Epilepsia (Copenhagen) (01.11.2018)
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Journal Article
Variant Score Ranker—a web application for intuitive missense variant prioritization
Du, Juanjiangmeng, Sudarsanam, Monica, Pérez-Palma, Eduardo, Ganna, Andrea, Francioli, Laurent, Iqbal, Sumaiya, Niestroj, Lisa-Marie, Leu, Costin, Weisburd, Ben, Poterba, Tim, Nürnberg, Peter, Daly, Mark J, Palotie, Aarno, May, Patrick, Lal, Dennis
Published in Bioinformatics (01.11.2019)
Published in Bioinformatics (01.11.2019)
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Journal Article
Differential excitatory vs inhibitory SCN expression at single cell level regulates brain sodium channel function in neurodevelopmental disorders
Du, Juanjiangmeng, Simmons, Sean, Brunklaus, Andreas, Adiconis, Xian, Hession, Cynthia C., Fu, Zhanyan, Li, Yinqing, Shema, Reut, Møller, Rikke S., Barak, Boaz, Feng, Guoping, Meisler, Miriam, Sanders, Stephan, Lerche, Holger, Campbell, Arthur J., McCarroll, Steven, Levin, Joshua Z., Lal, Dennis
Published in European journal of paediatric neurology (01.01.2020)
Published in European journal of paediatric neurology (01.01.2020)
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Journal Article
Network Analysis and Fine-Mapping GWAS Loci to Identify Genes and Functional Variants Involved in the Development of Dupuytren Disease
Becker, Kerstin, Du, Juanjiangmeng, Nürnberg, Peter, Hennies, Hans Christian
Published in Dupuytren Disease and Related Diseases - The Cutting Edge (2017)
Published in Dupuytren Disease and Related Diseases - The Cutting Edge (2017)
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Book Chapter
Identification of pathogenic variant enriched regions across genes and gene families
Pérez-Palma, Eduardo, May, Patrick, Iqbal, Sumaiya, Lisa-Marie Niestroj, Du, Juanjiangmeng, Heyne, Henrike, Castrillon, Jessica, O'donnell-Luria, Anne, Nürnberg, Peter, Palotie, Aarno, Daly, Mark, Lal, Dennis
Published in bioRxiv (17.05.2019)
Published in bioRxiv (17.05.2019)
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Paper