A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

Author:

Schoch Kelly,Meng Linyan,Szelinger Szabolcs,Bearden David R.,Stray-Pedersen Asbjorg,Busk Oyvind L.,Stong Nicholas,Liston Eriskay,Cohn Ronald D.,Scaglia Fernando,Rosenfeld Jill A.,Tarpinian Jennifer,Skraban Cara M.,Deardorff Matthew A.,Friedman Jeremy N.,Akdemir Zeynep Coban,Walley Nicole,Mikati Mohamad A.,Kranz Peter G.,Jasien Joan,McConkie-Rosell Allyn,McDonald Marie,Wechsler Stephanie Burns,Freemark Michael,Kansagra Sujay,Freedman Sharon,Bali Deeksha,Millan Francisca,Bale Sherri,Nelson Stanley F.,Lee Hane,Dorrani Naghmeh,Goldstein David B.,Xiao Rui,Yang Yaping,Posey Jennifer E.,Martinez-Agosto Julian A.,Lupski James R.,Wangler Michael F.,Shashi Vandana,Nelson Stanley F.,Grody Wayne W.,Lee Hane,Strom Samuel P.,Vilain Eric,Deignan Joshua,Quintero-Rivera Fabiola,Kantarci Sibel,Dorrani Naghmeh,Mullegama Sureni,Kang Sung-Hae,Szelinger Szabolcs,Alejandro Mercedes E.,Bacino Carlos A.,Balasubramanyam Ashok,Burrage Lindsay C.,Clark Gary D.,Craigen William J.,Dhar Shweta U.,Emrick Lisa T.,Graham Brett H.,Hanchard Neil A.,Jain Mahim,Lalani Seema R.,Lee Brendan H.,Lewis Richard A.,Mashid Azamian S.,Moretti Paolo M.,Nicholas Sarah K.,Orange Jordan S.,Posey Jennifer E.,Potocki Lorraine,Rosenfeld Jill A.,Scott Daryl A.,Tran Alyssa A.,Bellen Hugo J.,Wangler Michael F.,Yamamoto Shinya,Eng Christine M.,Muzny Donna M.,Ward Patricia A.,Yang Yaping,Gropman Andrea L.,Goldstein David B.,Stong Nicholas,Jiang Yong-hui,McConkie-Rosell Allyn,Pena Loren D.M.,Schoch Kelly,Shashi Vandana,Spillmann Rebecca C.,Sullivan Jennifer A.,Walley Nicole M.,Beggs Alan H.,Briere Lauren C.,Cooper Cynthia M.,Donnell-Fink Laurel A.,Krieg Elizabeth L.,Krier Joel B.,Lincoln Sharyn A.,Loscalzo Joseph,Maas Richard L.,MacRae Calum A.,Pallais J. Carl,Rodan Lance H.,Silverman Edwin K.,Stoler Joan M.,Sweetser David A.,Walsh Chris A.,Esteves Cecilia,Holm Ingrid A.,Kohane Isaac S.,Mazur Paul,McCray Alexa T.,Might Matthew,Ramoni Rachel B.,Splinter Kimberly,Bick David P.,Birch Camille L.,Boone Braden E.,Brown Donna M.,Dorset Dan C.,Handley Lori H.,Jacob Howard J.,Jones Angela L.,Lazar Jozef,Levy Shawn E.,Newberry J. Scott,Schroeder Molly C.,Strong Kimberly A.,Worthey Elizabeth A.,Dayal Jyoti G.,Eckstein David J.,Gould Sarah E.,Howerton Ellen M.,Krasnewich Donna M.,Loomis Carson R.,Mamounas Laura A.,Manolio Teri A.,Mulvihill John J.,Wise Anastasia L.,Soldatos Ariane G.,Brush Matthew,Gourdine Jean-Philippe F.,Haendel Melissa,Koeller David M.,Kyle Jennifer E.,Metz Thomas O.,Waters Katrina M.,Webb-Robertson Bobbie-Jo M.,Ashley Euan A.,Bernstein Jonathan A.,Dries Annika M.,Fisher Paul G.,Kohler Jennefer N.,Waggott Daryl M.,Wheeler Matt T.,Zornio Patricia A.,Allard Patrick,Barseghyan Hayk,Dell’Angelica Esteban C.,Dipple Katrina M.,Dorrani Naghmeh,Herzog Matthew R.,Lee Hane,Nelson Stan F.,Palmer Christina G.S.,Papp Jeanette C.,Sinsheimer Janet S.,Vilain Eric,Adams Christopher J.,Burke Elizabeth A.,Chao Katherine R.,Davids Mariska,Draper David D.,Estwick Tyra,Frisby Trevor S.,Frost Kate,Gartner Valerie,Godfrey Rena A.,Goheen Mitchell,Golas Gretchen A.,Gordon Mary “Gracie” G.,Groden Catherine A.,Hackbarth Mary E.,Hardee Isabel,Johnston Jean M.,Koehler Alanna E.,Latham Lea,Latour Yvonne L.,Lau C. Christopher,Levy Denise J.,Liebendorder Adam P.,Macnamara Ellen F.,Maduro Valerie V.,Markello Thomas C.,McCarty Alexandra J.,Murphy Jennifer L.,Nehrebecky Michele E.,Novacic Donna,Pusey Barbara N.,Sadozai Sarah,Schaffer Katherine E.,Sharma Prashant,Thomas Sara P.,Tolman Nathanial J.,Toro Camilo,Valivullah Zaheer M.,Wahl Colleen E.,Warburton Mike,Weech Alec A.,Yu Guoyun,Adams David R.,Gahl William A.,Malicdan May Christine V.,Tifft Cynthia J.,Wolfe Lynne A.,Lee Paul R.,Postlethwait John H.,Westerfield Monte,Bican Anna,Hamid Rizwan,Newman John H.,Phillips John A.,Robertson Amy K.,Cogan Joy D.

Funder

Duke Undiagnosed Diseases Network

Simons Foundation Functional Screen

National Human Genome Research Institute and National Heart Lung and Blood Institute

March of Dimes

UCLA Children’s Discovery Institute

UCLA CART

NIH/NICHD

NIH/NCATS UCLA CTSI

Ting Tsung and Wei Fong Chao Foundation

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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