Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders

Autor: Fischer-Zirnsak, Björn, Segebrecht, Lara, Schubach, Max, Charles, Perrine, Alderman, Emily, Brown, Kathleen, Cadieux-Dion, Maxime, Cartwright, Tracy, Chen, Yanmin, Costin, Carrie, Fehr, Sarah, Fitzgerald, Keely M., Fleming, Emily, Foss, Kimberly, Ha, Thoa, Hildebrand, Gabriele, Horn, Denise, Liu, Shuxi, Marco, Elysa J., McDonald, Marie, McWalter, Kirsty, Race, Simone, Rush, Eric T., Si, Yue, Saunders, Carol, Slavotinek, Anne, Stockler-Ipsiroglu, Sylvia, Telegrafi, Aida, Thiffault, Isabelle, Torti, Erin, Tsai, Anne Chun-hui, Wang, Xin, Zafar, Muhammad, Keren, Boris, Kornak, Uwe, Boerkoel, Cornelius F., Mirzaa, Ghayda, Ehmke, Nadja

Publikováno v: In The American Journal of Human Genetics 5 September 2019 105(3):631-639

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VarFish: comprehensive DNA variant analysis for diagnostics and research.

Autor: Holtgrewe M; CUBI - Core Unit Bioinformatics, Berlin Institute of Health, Berlin 10117, Germany.; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin 10117, Germany., Stolpe O; CUBI - Core Unit Bioinformatics, Berlin Institute of Health, Berlin 10117, Germany.; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin 10117, Germany., Nieminen M; CUBI - Core Unit Bioinformatics, Berlin Institute of Health, Berlin 10117, Germany.; Max Delbrück Center for Molecular Medicine, Berlin 13125, Germany., Mundlos S; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin 13353, Germany.; Development and Disease Group, Max Planck Institute for Medical Genetics, Berlin 14195, Germany., Knaus A; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn 53127, Germany., Kornak U; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin 13353, Germany.; Development and Disease Group, Max Planck Institute for Medical Genetics, Berlin 14195, Germany., Seelow D; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin 13353, Germany.; Berlin Institute of Health (BIH), Anna-Louisa-Karsch-Str. 2, 10178 Berlin, Germany., Segebrecht L; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin 13353, Germany., Spielmann M; Development and Disease Group, Max Planck Institute for Medical Genetics, Berlin 14195, Germany.; Institut für Humangenetik Lübeck, Universität zu Lübeck, 23538 Lübeck, Germany., Fischer-Zirnsak B; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin 13353, Germany.; Development and Disease Group, Max Planck Institute for Medical Genetics, Berlin 14195, Germany., Boschann F; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin 13353, Germany., Scholl U; Berlin Institute of Health (BIH), Anna-Louisa-Karsch-Str. 2, 10178 Berlin, Germany.; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Department of Nephrology and Medical Intensive Care, BCRT - Berlin Institute of Health Center for Regenerative Therapies, 13353 Berlin, Germany., Ehmke N; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin 13353, Germany., Beule D; CUBI - Core Unit Bioinformatics, Berlin Institute of Health, Berlin 10117, Germany.; Max Delbrück Center for Molecular Medicine, Berlin 13125, Germany.

Publikováno v: Nucleic acids research [Nucleic Acids Res] 2020 Jul 02; Vol. 48 (W1), pp. W162-W169.