Article
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Genome medicine - 19 Apr 2021
Gillentine Madelyn A, Wang Tianyun, Hoekzema Kendra, Rosenfeld Jill, Liu Pengfei, Guo Hui, Kim Chang N, De Vries Bert B A, Vissers Lisenka E L M, Nordenskjold Magnus, Kvarnung Malin, Lindstrand Anna, Nordgren Ann, Gecz Jozef, Iascone Maria, Cereda Anna, Scatigno Agnese, Maitz Silvia, Zanni Ginevra, Bertini Enrico, Zweier Christiane, Schuhmann Sarah, Wiesener Antje, Pepper Micah, Panjwani Heena, Torti Erin, Abid Farida, Anselm Irina, Srivastava Siddharth, Atwal Paldeep, Bacino Carlos A, Bhat Gifty, Cobian Katherine, Bird Lynne M, Friedman Jennifer, Wright Meredith S, Callewaert Bert, Petit Florence, Mathieu Sophie, Afenjar Alexandra, Christensen Celenie K, White Kerry M, Elpeleg Orly, Berger Itai, Espineli Edward J, Fagerberg Christina, Brasch-Andersen Charlotte, Hansen Lars Kjærsgaard, Feyma Timothy, Hughes Susan, Thiffault Isabelle, Sullivan Bonnie, Yan Shuang, Keller Kory, Keren Boris, Mignot Cyril, Kooy Frank, Meuwissen Marije, Basinger Alice, Kukolich Mary, Philips Meredith, Ortega Lucia, Drummond-Borg Margaret, Lauridsen Mathilde, Sorensen Kristina, Lehman Anna, Lopez-Rangel Elena, Levy Paul, Lessel Davor, Lotze Timothy, Madan-Khetarpal Suneeta, Sebastian Jessica, Vento Jodie, Vats Divya, Benman L Manace, Mckee Shane, Mirzaa Ghayda M, Muss Candace, Pappas John, Peeters Hilde, Romano Corrado, Elia Maurizio, Galesi Ornella, Simon Marleen E H, van Gassen Koen L I, Simpson Kara, Stratton Robert, Syed Sabeen, Thevenon Julien, Palafoll Irene Valenzuela, Vitobello Antonio, Bournez Marie, Faivre Laurence, Xia Kun, Earl Rachel K, Nowakowski Tomasz, Bernier Raphael A, Eichler Evan E
Abstract excerpt
BACKGROUND: With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype-phenotype correlations, with clinical characterization remaining a bottleneck for understanding NDDs. Most disease-associated Mendelian genes are members of gene families, and we hypothesize that...
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