Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

Autor: Dworschak, Gabriel C., Punetha, Jaya, Kalanithy, Jeshurun C., Mingardo, Enrico, Erdem, Haktan B., Akdemir, Zeynep C., Karaca, Ender, Mitani, Tadahiro, Marafi, Dana, Fatih, Jawid M., Jhangiani, Shalini N., Hunter, Jill V., Dakal, Tikam Chand, Dhabhai, Bhanupriya, Dabbagh, Omar, Alsaif, Hessa S., Alkuraya, Fowzan S., Maroofian, Reza, Houlden, Henry, Efthymiou, Stephanie, Dominik, Natalia, Salpietro, Vincenzo, Sultan, Tipu, Haider, Shahzad, Bibi, Farah, Thiele, Holger, Hoefele, Julia, Riedhammer, Korbinian M., Wagner, Matias, Guella, Ilaria, Demos, Michelle, Keren, Boris, Buratti, Julien, Charles, Perrine, Nava, Caroline, Héron, Delphine, Heide, Solveig, Valkanas, Elise, Waddell, Leigh B., Jones, Kristi J., Oates, Emily C., Cooper, Sandra T., MacArthur, Daniel, Syrbe, Steffen, Ziegler, Andreas, Platzer, Konrad, Okur, Volkan, Chung, Wendy K., O’Shea, Sarah A., Alcalay, Roy, Fahn, Stanley, Mark, Paul R., Guerrini, Renzo, Vetro, Annalisa, Hudson, Beth, Schnur, Rhonda E., Hoganson, George E., Burton, Jennifer E., McEntagart, Meriel, Lindenberg, Tobias, Yilmaz, Öznur, Odermatt, Benjamin, Pehlivan, Davut, Posey, Jennifer E., Lupski, James R., Reutter, Heiko

Publikováno v: In Genetics in Medicine September 2021 23(9):1715-1725

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Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive

Autor: Edvardson, Simon, Nicolae, Claudia M., Noh, Grace J., Burton, Jennifer E., Punzi, Giuseppe, Shaag, Avraham, Bischetsrieder, Jessica, De Grassi, Anna, Pierri, Ciro Leonardo, Elpeleg, Orly, Moldovan, George-Lucian

Publikováno v: In The American Journal of Human Genetics 3 January 2019 104(1):179-185

Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.

Autor: AlAbdi L; Department of Zoology, College of Science, King Saud University, Riyadh 11362, Saudi Arabia.; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Desbois M; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA., Rusnac DV; Department of Pharmacology, University of Washington School of Medicine, Seattle, WA 98195, USA.; Howard Hughes Medical Institute, Department of Pharmacology, University of Washington, Seattle, WA 98195, USA., Sulaiman RA; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Lalani S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Murdock DR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Billie Au PY; Department of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada., Towner S; Pediatric Genetics, University of Virginia, Charlottesville, VA 22903, USA., Wilson WG; Pediatric Genetics, University of Virginia, Charlottesville, VA 22903, USA., Wong L; Department of Genetics, Northern California Kaiser Permanente, Oakland, CA 94611, USA., Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics (ING), Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany., Strobl-Wildemann G; Department of Human Genetics, MVZ Humangenetik Ulm, 89073 Ulm, Germany., Burton JE; Department of Genetics, University of Illinois College of Medicine at Peoria, Peoria, IL 61605, USA., Hoganson G; Department of Genetics, University of Illinois College of Medicine at Peoria, Peoria, IL 61605, USA., McWalter K; Genedx, Inc., 207 Perry Parkway, Gaithersburg, MD 20877, USA., Begtrup A; Genedx, Inc., 207 Perry Parkway, Gaithersburg, MD 20877, USA., Zarate YA; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA., Christensen EL; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA., Opperman KJ; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA., Giles AC; Division of Medical Sciences, University of Northern British Columbia, Prince George, BC V2N 4Z9, Canada., Helaby R; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Kania A; Institut de recherches cliniques de Montréal (IRCM), Montréal, QC H2W 1R7, Canada.; Integrated Program in Neuroscience, McGill University, Montréal, QC H3A 2B4, Canada.; Division of Experimental Medicine, McGill University, Montréal, QC H3A 2B2, Canada.; Department of Anatomy and Cell Biology, McGill University, Montréal, QC H3A 0C7, Canada., Zheng N; Department of Pharmacology, University of Washington School of Medicine, Seattle, WA 98195, USA.; Howard Hughes Medical Institute, Department of Pharmacology, University of Washington, Seattle, WA 98195, USA., Grill B; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.; Department of Pharmacology, University of Washington School of Medicine, Seattle, WA 98195, USA.; Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98101, USA., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia.

Publikováno v: Brain : a journal of neurology [Brain] 2023 Apr 19; Vol. 146 (4), pp. 1373-1387.