De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects

Author:

Accogli Andrea,Calabretta Sara,St-Onge Judith,Boudrahem-Addour Nassima,Dionne-Laporte Alexandre,Joset Pascal,Azzarello-Burri Silvia,Rauch Anita,Krier Joel,Fieg Elizabeth,Pallais Juan C.,McConkie-Rosell Allyn,McDonald Marie,Freedman Sharon F.,Rivière Jean-Baptiste,Lafond-Lapalme Joël,Simpson Brittany N.,Hopkin Robert J.,Trimouille Aurélien,Van-Gils Julien,Begtrup Amber,McWalter Kirsty,Delphine Heron,Keren Boris,Genevieve David,Argilli Emanuela,Sherr Elliott H.,Severino Mariasavina,Rouleau Guy A.,Yam Patricia T.,Charron Frédéric,Srour Myriam,Acosta Maria T.,Adams David R.,Agrawal Pankaj,Alejandro Mercedes E.,Allard Patrick,Alvey Justin,Andrews Ashley,Ashley Euan A.,Azamian Mahshid S.,Bacino Carlos A.,Bademci Guney,Baker Eva,Balasubramanyam Ashok,Baldridge Dustin,Bale Jim,Barbouth Deborah,Batzli Gabriel F.,Bayrak-Toydemir Pinar,Beggs Alan H.,Bejerano Gill,Bellen Hugo J.,Bernstein Jonathan A.,Berry Gerard T.,Bican Anna,Bick David P.,Birch Camille L.,Bivona Stephanie,Bohnsack John,Bonnenmann Carsten,Bonner Devon,Boone Braden E.,Bostwick Bret L.,Botto Lorenzo,Briere Lauren C.,Brokamp Elly,Brown Donna M.,Brush Matthew,Burke Elizabeth A.,Burrage Lindsay C.,Butte Manish J.,Carey John,Carrasquillo Olveen,Chang Ta Chen Peter,Chao Hsiao-Tuan,Clark Gary D.,Coakley Terra R.,Cobban Laurel A.,Cogan Joy D.,Cole F. Sessions,Colley Heather A.,Cooper Cynthia M.,Cope Heidi,Craigen William J.,D’Souza Precilla,Dasari Surendra,Davids Mariska,Dayal Jyoti G.,Dell’Angelica Esteban C.,Dhar Shweta U.,Dorrani Naghmeh,Dorset Daniel C.,Douine Emilie D.,Draper David D.,Duncan Laura,Eckstein David J.,Emrick Lisa T.,Eng Christine M.,Esteves Cecilia,Estwick Tyra,Fernandez Liliana,Ferreira Carlos,Fieg Elizabeth L.,Fisher Paul G.,Fogel Brent L.,Forghani Irman,Fresard Laure,Gahl William A.,Godfrey Rena A.,Goldman Alica M.,Goldstein David B.,Gourdine Jean-Philippe F.,Grajewski Alana,Groden Catherine A.,Gropman Andrea L.,Haendel Melissa,Hamid Rizwan,Hanchard Neil A.,Hayes Nichole,High Frances,Holm Ingrid A.,Hom Jason,Huang Alden,Huang Yong,Isasi Rosario,Jamal Fariha,Jiang Yong-hui,Johnston Jean M.,Jones Angela L.,Karaviti Lefkothea,Kelley Emily G.,Kiley Dana,Koeller David M.,Kohane Isaac S.,Kohler Jennefer N.,Krakow Deborah,Krasnewich Donna M.,Korrick Susan,Koziura Mary,Krier Joel B.,Kyle Jennifer E.,Lalani Seema R.,Lam Byron,Lanpher Brendan C.,Lanza Ian R.,Lau C. Christopher,Lazar Jozef,LeBlanc Kimberly,Lee Brendan H.,Lee Hane,Levitt Roy,Levy Shawn E.,Lewis Richard A.,Lincoln Sharyn A.,Liu Pengfei,Liu Xue Zhong,Longo Nicola,Loo Sandra K.,Loscalzo Joseph,Maas Richard L.,Macnamara Ellen F.,MacRae Calum A.,Maduro Valerie V.,Majcherska Marta M.,Malicdan May Christine V.,Mamounas Laura A.,Manolio Teri A.,Mao Rong,Markello Thomas C.,Marom Ronit,Marth Gabor,Martin Beth A.,Martin Martin G.,Martínez-Agosto Julian A.,Marwaha Shruti,May Thomas,McCauley Jacob,McConkie-Rosell Allyn,McCormack Colleen E.,McCray Alexa T.,Metz Thomas O.,Might Matthew,Morava-Kozicz Eva,Moretti Paolo M.,Morimoto Marie,Mulvihill John J.,Murdock David R.,Nath Avi,Nelson Stan F.,Newberry J. Scott,Newman John H.,Nicholas Sarah K.,Novacic Donna,Oglesbee Devin,Orengo James P.,Pace Laura,Pak Stephen,Pallais J. Carl,Palmer Christina G.S.,Papp Jeanette C.,Parker Neil H.,Phillips John A.,Posey Jennifer E.,Postlethwait John H.,Potocki Lorraine,Pusey Barbara N.,Quinlan Aaron,Raja Archana N.,Renteria Genecee,Reuter Chloe M.,Rives Lynette,Robertson Amy K.,Rodan Lance H.,Rosenfeld Jill A.,Rowley Robb K.,Ruzhnikov Maura,Sacco Ralph,Sampson Jacinda B.,Samson Susan L.,Saporta Mario,Schaechter Judy,Schedl Timothy,Schoch Kelly,Scott Daryl A.,Shakachite Lisa,Sharma Prashant,Shashi Vandana,Shields Kathleen,Shin Jimann,Signer Rebecca,Sillari Catherine H.,Silverman Edwin K.,Sinsheimer Janet S.,Sisco Kathy,Smith Kevin S.,Solnica-Krezel Lilianna,Spillmann Rebecca C.,Stoler Joan M.,Stong Nicholas,Sullivan Jennifer A.,Sutton Shirley,Sweetser David A.,Tabor Holly K.,Tamburro Cecelia P.,Tan Queenie K.-G.,Tekin Mustafa,Telischi Fred,Thorson Willa,Tifft Cynthia J.,Toro Camilo,Tran Alyssa A.,Urv Tiina K.,Velinder Matt,Viskochil Dave,Vogel Tiphanie P.,Wahl Colleen E.,Walley Nicole M.,Walsh Chris A.,Walker Melissa,Wambach Jennifer,Wan Jijun,Wang Lee-kai,Wangler Michael F.,Ward Patricia A.,Waters Katrina M.,Webb-Robertson Bobbie-Jo M.,Wegner Daniel,Westerfield Monte,Wheeler Matthew T.,Wise Anastasia L.,Wolfe Lynne A.,Woods Jeremy D.,Worthey Elizabeth A.,Yamamoto Shinya,Yang John,Yoon Amanda J.,Yu Guoyun,Zastrow Diane B.,Zhao Chunli,Zuchner Stephan

Funder

Fonds de Recherche du Québec Santé

FRQS

Mel Hoppenheim Fund in Pediatric Neurology

Montreal Children’s Foundation

Rotary Foundation

Canadian Institutes of Health Research

Sick Kids Foundation

CIHR

Canada Foundation for Innovation

National Institutes of Health Common Fund

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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