Article
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
American journal of human genetics - 2 Feb 2023
Hiatt Susan M, Trajkova Slavica, Sebastiano Matteo Rossi, Partridge E Christopher, Abidi Fatima E, Anderson Ashlyn, Ansar Muhammad, Antonarakis Stylianos E, Azadi Azadeh, Bachmann-Gagescu Ruxandra, Bartuli Andrea, Benech Caroline, Berkowitz Jennifer L, Betti Michael J, Brusco Alfredo, Cannon Ashley, Caron Giulia, Chen Yanmin, Cochran Meagan E, Coleman Tanner F, Crenshaw Molly M, Cuisset Laurence, Curry Cynthia J, Darvish Hossein, Demirdas Serwet, Descartes Maria, Douglas Jessica, Dyment David A, Elloumi Houda Zghal, Ermondi Giuseppe, Faoucher Marie, Farrow Emily G, Felker Stephanie A, Fisher Heather, Hurst Anna C E, Joset Pascal, Kelly Melissa A, Kmoch Stanislav, Leadem Benjamin R, Lyons Michael J, Macchiaiolo Marina, Magner Martin, Mandrile Giorgia, Mattioli Francesca, McEown Megan, Meadows Sarah K, Medne Livija, Meeks Naomi J L, Montgomery Sarah, Napier Melanie P, Natowicz Marvin, Newberry Kimberly M, Niceta Marcello, Noskova Lenka, Nowak Catherine B, Noyes Amanda G, Osmond Matthew, Prijoles Eloise J, Pugh Jada, Pullano Verdiana, Quélin Chloé, Rahimi-Aliabadi Simin, Rauch Anita, Redon Sylvia, Reymond Alexandre, Schwager Caitlin R, Sellars Elizabeth A, Scheuerle Angela E, Shukarova-Angelovska Elena, Skraban Cara, Stolerman Elliot, Sullivan Bonnie R, Tartaglia Marco, Thiffault Isabelle, Uguen Kevin, Umaña Luis A, van Bever Yolande, van der Crabben Saskia N, van Slegtenhorst Marjon A, Waisfisz Quinten, Washington Camerun, Rodan Lance H, Myers Richard M, Cooper Gregory M
Abstract excerpt
Neurodevelopmental disorders (NDDs) result from highly penetrant variation in hundreds of different genes, some of which have not yet been identified. Using the MatchMaker Exchange, we assembled a cohort of 27 individuals with rare, protein-altering variation in the transcriptional coregulator ZMYM3, located on the X chromosome. Most (n = 24) individuals were males, 17 of which have a maternally inherited...
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