HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder-Reference-Cited by-同舟云学术

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

Published:2023-08 Issue:8 Volume:110 Page:1414-1435
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Niggl Eva^ORCID,Bouman Arjan,Briere Lauren C.,Hoogenboezem Remco M.,Wallaard Ilse,Park Joohyun,Admard Jakob,Wilke Martina,Harris-Mostert Emilio D.R.O.,Elgersma Minetta,Bain Jennifer,Balasubramanian Meena,Banka Siddharth,Benke Paul J.,Bertrand Miriam,Blesson Alyssa E.,Clayton-Smith Jill,Ellingford Jamie M.,Gillentine Madelyn A.,Goodloe Dana H.,Haack Tobias B.,Jain Mahim,Krantz Ian,Luu Sharon M.,McPheron Molly,Muss Candace L.,Raible Sarah E.,Robin Nathaniel H.,Spiller Michael,Starling Susan,Sweetser David A.,Thiffault Isabelle,Vetrini Francesco,Witt Dennis,Woods Emily,Zhou Dihong,Elgersma Ype^ORCID,van Esbroeck Annelot C.M.,Ambrose J.C.,Arumugam P.,Bevers R.,Bleda M.,Boardman-Pretty F.,Boustred C.R.,Brittain H.,Brown M.A.,Caulfield M.J.,Chan G.C.,Giess A.,Griffin J.N.,Hamblin A.,Henderson S.,Hubbard T.J.P.,Jackson R.,Jones L.J.,Kasperaviciute D.,Kayikci M.,Kousathanas A.,Lahnstein L.,Lakey A.,Leigh S.E.A.,Leong I.U.S.,Lopez F.J.,Maleady-Crowe F.,McEntagart M.,Minneci F.,Mitchell J.,Moutsianas L.,Mueller M.,Murugaesu N.,Need A.C.,O‘Donovan P.,Odhams C.A.,Patch C.,Perez-Gil D.,Pereira M.B.,Pullinger J.,Rahim T.,Rendon A.,Rogers T.,Savage K.,Sawant K.,Scott R.H.,Siddiq A.,Sieghart A.,Smith S.C.,Sosinsky A.,Stuckey A.,Tanguy M.,Taylor Tavares A.L.,Thomas E.R.A.,Thompson S.R.,Tucci A.,Welland M.J.,Williams E.,Witkowska K.,Wood S.M.,Zarowiecki M.,Acosta Maria T.,Adams David R.,Alvarez Raquel L.,Alvey Justin,Allworth Aimee,Andrews Ashley,Ashley Euan A.,Afzali Ben,Bacino Carlos A.,Bademci Guney,Balasubramanyam Ashok,Baldridge Dustin,Bale Jim,Bamshad Michael,Barbouth Deborah,Bayrak-Toydemir Pinar,Beck Anita,Beggs Alan H.,Behrens Edward,Bejerano Gill,Bellen Hugo J.,Bennet Jimmy,Bernstein Jonathan A.,Berry Gerard T.,Bican Anna,Bivona Stephanie,Blue Elizabeth,Bohnsack John,Bonner Devon,Botto Lorenzo,Briere Lauren C.,Brown Gabrielle,Burke Elizabeth A.,Burrage Lindsay C.,Butte Manish J.,Byers Peter,Byrd William E.,Carey John,Carrasquillo Olveen,Cassini Thomas,Chang Ta Chen,Chanprasert Sirisak,Chao Hsiao-Tuan,Chinn Ivan,Clark Gary D.,Coakley Terra R.,Cobban Laurel A.,Cogan Joy D.,Coggins Matthew,Cole F. Sessions,Colley Heather A.,Cope Heidi,Corona Rosario,Craigen William J.,Crouse Andrew B.,Cunningham Michael,D'Souza Precilla,Dai Hongzheng,Dasari Surendra,Davis Joie,Dayal Jyoti G.,Delgado Margaret,Dell'Angelica Esteban C.,Dipple Katrina,Doherty Daniel,Dorrani Naghmeh,Doss Argenia L.,Douine Emilie D.,Earl Dawn,Eckstein David J.,Emrick Lisa T.,Eng Christine M.,Falk Marni,Fieg Elizabeth L.,Fisher Paul G.,Fogel Brent L.,Forghani Irman,Fu Jiayu,Gahl William A.,Glass Ian,Goddard Page C.,Godfrey Rena A.,Grajewski Alana,Halley Meghan C.,Hamid Rizwan,Hanchard Neal,Hassey Kelly,Hayes Nichole,High Frances,Hing Anne,Hisama Fuki M.,Holm Ingrid A.,Hom Jason,Horike-Pyne Martha,Huang Alden,Huang Yan,Hutchison Sarah,Introne Wendy,Isasi Rosario,Izumi Kosuke,Jarvik Gail P.,Jarvik Jeffrey,Jayadev Suman,Jean-Marie Orpa,Jobanputra Vaidehi,Kaitryn Emerald,Ketkar Shamika,Kiley Dana,Kilich Gonench,Kobren Shilpa N.,Kohane Isaac S.,Kohler Jennefer N.,Korrick Susan,Krakow Deborah,Krasnewich Donna M.,Kravets Elijah,Lalani Seema R.,Lam Byron,Lam Christina,Lanpher Brendan C.,Lanza Ian R.,LeBlanc Kimberly,Lee Brendan H.,Levitt Roy,Lewis Richard 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.,Maghiro AudreyStephannie,Mahoney Rachel,Malicdan May Christine,Mamounas Laura A.,Manolio Teri A.,Mao Rong,Marom Ronit,Marth Gabor,Martin Beth A.,Martin Martin G.,Martínez-Agosto Julian A.,Marwaha Shruti,McCauley Jacob,McConkie-Rosell Allyn,McCray Alexa T.,McGee Elisabeth,Might Matthew,Miller Danny,Mirzaa Ghayda,Morava Eva,Moretti Paolo,Morimoto Marie,Mulvihill John J.,Nakano-Okuno Mariko,Nelson Stanley F.,Nieves-Rodriguez Shirley,Novacic Donna,Oglesbee Devin,Orengo James P.,Pace Laura,Pak Stephen,Pallais J. Carl,Papp Jeanette C.,Parker Neil H.,Petcharet Leoyklang,Phillips John A.,Posey Jennifer E.,Potocki Lorraine,Swerdzewski Barbara N.,Quinlan Aaron,Rao Deepak A.,Raper Anna,Raskind Wendy,Renteria Genecee,Reuter Chloe,Rives Lynette,Robertson Amy K.,Rodan Lance H.,Rosenfeld Jill A.,Rosenthal Elizabeth,Rossignol Francis,Ruzhnikov Maura,Sabaii Marla,Sacco Ralph,Sampson Jacinda B.,Saporta Mario,Schaechter Judy,Schedl Timothy,Schoch Kelly,Scott Daryl A.,Seto Elaine,Sharma Prashant,Shashi Vandana,Shelkowitz Emily,Sheppeard Sam,Shin Jimann,Silverman Edwin,Sinsheimer Janet,Sisco Kathy,Smith Edward,Smith Kevin,Solnica-Krezel Lilianna,Solomon Ben,Spillmann Rebecca,Stergachis Andrew,Stoler Joan,Sullivan Kathleen,Sullivan Jennifer,Sutton Shirley,Sweetser David A.,Sybert Virginia,Tabor Holly K.,Tan Queenie K.-G.,Tan Amelia L.,Tarakad Arjun,Tekin Mustafa,Telischi Fred,Thorson Willa,Tifft Cynthia,Toro Camilo,Tran Alyssa A.,Ungar Rachel A.,Urv Tiina K.,Vanderver Adeline,Velinder Matt,Viskochil Dave,Vogel Tiphanie P.,Wahl Colleen E.,Walker Melissa,Walley Nicole M.,Wambach Jennifer,Wan Jijun,Wang Lee-kai,Wangler Michael F.,Ward Patricia A.,Wegner Daniel,Weisz Monika,Wener Mark,Wenger Tara,Westerfield Monte,Wheeler Matthew T.,Whitlock Jordan,Wolfe Lynne A.,Yamamoto Shinya,Zhang Zhe,Zuchner Stephan

Funder

Medical Research Council

National Institute for Health and Care Research

Wellcome Trust

Heart of England NHS Foundation Trust

Cancer Research UK

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference66 articles.

1. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders;Gillentine;Genome Med.,2021