Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections-Reference-Cited by-同舟云学术

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

Published:2024-02 Issue:2 Volume:26 Page:101023
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Jeffries Lauren,Mis Emily K.,McWalter Kirsty,Donkervoort Sandra,Brodsky Nina N.,Carpier Jean-Marie,Ji Weizhen,Ionita Cristian,Roy Bhaskar,Morrow Jon S.,Darbinyan Armine,Iyer Krishna,Aul Ritu B.,Banka Siddharth,Chao Katherine R.,Cobbold Laura,Cohen Stacey,Custodio Helena M.,Drummond-Borg Margaret,Elmslie Frances,Finanger Erika,Hainline Bryan E.,Helbig Ingo,Hewson Stacy,Hu Ying,Jackson Adam,Josifova Dragana,Konstantino Monica,Leach Meganne E.,Mak Bryan,McCormick David,McGee Elisabeth,Nelson Stanley,Nguyen Joanne,Nugent Kimberly,Ortega Lucy,Goodkin Howard P.,Roeder Elizabeth,Roy Sani,Sapp Katie,Saade Dimah,Sisodiya Sanjay M.,Stals Karen,Towner Shelley,Wilson William,Khokha Mustafa K.,Bönnemann Carsten G.,Lucas Carrie L.,Lakhani Saquib A.^ORCID,Borras Silvia,Clark Caroline,Dean John,Miedzybrodzka Zosia,Ross Alison,Tennant Stephen,Dabir Tabib,Donnelly Deirdre,Humphreys Mervyn,Magee Alex,McConnell Vivienne,McKee Shane,McNerlan Susan,Morrison Patrick J.,Rea Gillian,Stewart Fiona,Cole Trevor,Cooper Nicola,Cooper-Charles Lisa,Cox Helen,Islam Lily,Jarvis Joanna,Keelagher Rebecca,Lim Derek,McMullan Dominic,Morton Jenny,Naik Swati,O’Driscoll Mary,Ong Kai-Ren,Osio Deborah,Ragge Nicola,Turton Sarah,Vogt Julie,Williams Denise,Bodek Simon,Donaldson Alan,Hills Alison,Low Karen,Newbury-Ecob Ruth,Norman Andrew M.,Roberts Eileen,Scurr Ingrid,Smithson Sarah,Tooley Madeleine,Abbs Steve,Armstrong Ruth,Dunn Carolyn,Holden Simon,Park Soo-Mi,Paterson Joan,Raymond Lucy,Reid Evan,Sandford Richard,Simonic Ingrid,Tischkowitz Marc,Woods Geoff,Bradley Lisa,Comerford Joanne,Green Andrew,Lynch Sally,McQuaid Shirley,Mullaney Brendan,Berg Jonathan,Goudie David,Mavrak Eleni,McLean Joanne,McWilliam Catherine,Reavey Eleanor,Azam Tara,Cleary Elaine,Jackson Andrew,Lam Wayne,Lampe Anne,Moore David,Porteous Mary,Baple Emma,Baptista Júlia,Brewer Carole,Castle Bruce,Kivuva Emma,Owens Martina,Rankin Julia,Shaw-Smith Charles,Turner Claire,Turnpenny Peter,Tysoe Carolyn,Bradley Therese,Davidson Rosemarie,Gardiner Carol,Joss Shelagh,Kinning Esther,Longman Cheryl,McGowan Ruth,Murday Victoria,Pilz Daniela,Tobias Edward,Whiteford Margo,Williams Nicola,Barnicoat Angela,Clement Emma,Faravelli Francesca,Hurst Jane,Jenkins Lucy,Jones Wendy,Ajith Kumar V.K.,Lees Melissa,Loughlin Sam,Male Alison,Morrogh Deborah,Rosser Elisabeth,Scott Richard,Wilson Louise,Beleza Ana,Deshpande Charu,Flinter Frances,Holder Muriel,Irving Melita,Izatt Louise,Josifova Dragana,Mohammed Shehla,Molenda Aneta,Robert Leema,Roworth Wendy,Ruddy Deborah,Ryten Mina,Yau Shu,Bennett Christopher,Blyth Moira,Campbell Jennifer,Coates Andrea,Dobbie Angus,Hewitt Sarah,Hobson Emma,Jackson Eilidh,Jewell Rosalyn,Kraus Alison,Prescott Katrina,Sheridan Eamonn,Thomson Jenny,Bradshaw Kirsty,Dixit Abhijit,Eason Jacqueline,Haines Rebecca,Harrison Rachel,Mutch Stacey,Sarkar Ajoy,Searle Claire,Shannon Nora,Sharif Abid,Suri Mohnish,Vasudevan Pradeep,Canham Natalie,Ellis Ian,Greenhalgh Lynn,Howard Emma,Stinton Victoria,Swale Andrew,Weber Astrid,Banka Siddharth,Breen Catherine,Briggs Tracy,Burkitt-Wright Emma,Chandler Kate,Clayton-Smith Jill,Donnai Dian,Douzgou Sofia,Gaunt Lorraine,Jones Elizabeth,Kerr Bronwyn,Langley Claire,Metcalfe Kay,Smith Audrey,Wright Ronnie,Bourn David,Burn John,Fisher Richard,Hellens Steve,Henderson Alex,Montgomery Tara,Splitt Miranda,Straub Volker,Wright Michael,Zwolinski Simon,Allen Zoe,Bernhard Birgitta,Brady Angela,Brooks Claire,Busby Louise,Clowes Virginia,Ghali Neeti,Holder Susan,Ibitoye Rita,Wakeling Emma,Blair Edward,Carmichael Jenny,Cilliers Deirdre,Clasper Susan,Gibbons Richard,Kini Usha,Lester Tracy,Nemeth Andrea,Poulton Joanna,Price Sue,Shears Debbie,Stewart Helen,Wilkie Andrew,Albaba Shadi,Baker Duncan,Balasubramanian Meena,Johnson Diana,Parker Michael,Quarrell Oliver,Stewart Alison,Willoughby Josh,Crosby Charlene,Elmslie Frances,Homfray Tessa,Jin Huilin,Lahiri Nayana,Mansour Sahar,Marks Karen,McEntagart Meriel,Saggar Anand,Tatton-Brown Kate,Butler Rachel,Clarke Angus,Corrin Sian,Fry Andrew,Kamath Arveen,McCann Emma,Mugalaasi Hood,Pottinger Caroline,Procter Annie,Sampson Julian,Sansbury Francis,Varghese Vinod,Baralle Diana,Callaway Alison,Cassidy Emma J.,Daniels Stacey,Douglas Andrew,Foulds Nicola,Hunt David,Kharbanda Mira,Lachlan Katherine,Mercer Catherine,Side Lucy,Temple I. Karen,Wellesley Diana,Ambrose J.C.,Arumugam P.,Baple E.L.,Bleda M.,Boardman-Pretty F.,Boissiere J.M.,Boustred C.R.,Caulfield M.J.,Chan G.C.,Craig C.E.H.,Daugherty L.C.,de Burca A.,Devereau A.,Elgar G.,Foulger R.E.,Fowler T.,FurióTarí P.,Hackett J.M.,Halai D.,Hamblin A.,Henderson S.,Holman J.E.,Hubbard T.J.P.,Ibáñez K.,Jackson R.,Jones L.J.,Kasperaviciute D.,Kayikci M.,Lahnstein L.,Lawson K.,Leigh S.E.A.,Leong I.U.S.,Lopez F.J.,MaleadyCrowe F.,Mason J.,McDonagh E.M.,Moutsianas L.,Mueller M.,Murugaesu N.,Need A.C.,Odhams C.A.,Patch C.,Perez-Gil D.,Polychronopoulos D.,Pullinger J.,Rahim T.,Rendon A.,Riesgo-Ferreiro P.,Rogers T.,Ryten M.,Savage K.,Sawant K.,Scott R.H.,Siddiq A.,Sieghart A.,Smedley D.,Smith K.R.,Sosinsky A.,Spooner W.,Stevens H.E.,Stuckey A.,Sultana R.,Thomas E.R.A.,Thompson S.R.,Tucci A.,Walsh E.,Watters S.A.,Welland M.J.,Williams E.,Witkowska K.,Acosta Maria T.,Adam Margaret,Adams David R.,Agrawal Pankaj B.,Alejandro Mercedes E.,Alvey Justin,Amendola Laura,Andrews Ashley,Ashley Euan A.,Azamian Mahshid S.,Bacino Carlos A.,Bademci Guney,Baker Eva,Balasubramanyam Ashok,Baldridge Dustin,Bale Jim,Bamshad Michael,Barbouth Deborah,Bayrak-Toydemir Pinar,Beck Anita,Beggs Alan H.,Behrens Edward,Bejerano Gill,Bennet Jimmy,Berg-Rood Beverly,Bernstein Jonathan A.,Berry Gerard T.,Bican Anna,Bivona Stephanie,Blue Elizabeth,Bohnsack John,Bonnenmann Carsten,Bonner Devon,Botto Lorenzo,Boyd Brenna,Briere Lauren C.,Brokamp Elly,Brown Gabrielle,Burke Elizabeth A.,Burrage Lindsay C.,Butte Manish J.,Byers Peter,Byrd William E.,Carey John,Carrasquillo Olveen,Peter Chang Ta Chen,Chanprasert Sirisak,Chao Hsiao-Tuan,Clark Gary D.,Coakley Terra R.,Cobban Laurel A.,Cogan Joy D.,Coggins Matthew,Cole F. Sessions,Colley Heather A.,Cooper Cynthia M.,Craigen William J.,Crouse Andrew B.,Cunningham Michael,D'Souza Precilla,Dai Hongzheng,Dasari Surendra,Davids Mariska,Dayal Jyoti G.,Deardorff Matthew,Dell'Angelica Esteban C.,Dhar Shweta U.,Dipple Katrina,Doherty Daniel,Dorrani Naghmeh,Douine Emilie D.,Draper David D.,Duncan Laura,Earl Dawn,Eckstein David J.,Emrick Lisa T.,Eng Christine M.,Esteves Cecilia,Estwick Tyra,Falk Marni,Fernandez Liliana,Ferreira Carlos,Fieg Elizabeth L.,Findley Laurie C.,Fisher Paul G.,Fogel Brent L.,Forghani Irman,Fresard Laure,Gahl William A.,Glass Ian,Godfrey Rena A.,Golden-Grant Katie,Goldman Alica M.,Goldstein David B.,Grajewski Alana,Groden Catherine A.,Gropman Andrea L.,Gutierrez Irma,Hahn Sihoun,Hamid Rizwan,Hanchard Neil A.,Hassey Kelly,Hayes Nichole,High Frances,Hing Anne,Hisama Fuki M.,Holm Ingrid A.,Hom Jason,Horike-Pyne Martha,Huang Alden,Huang Yong,Isasi Rosario,Jamal Fariha,Jarvik Gail P.,Jarvik Jeffrey,Jayadev Suman,Johnston Jean M.,Karaviti Lefkothea,Kelley Emily G.,Kennedy Jennifer,Kiley Dana,Kohane Isaac S.,Kohler Jennefer N.,Krakow Deborah,Krasnewich Donna M.,Kravets Elijah,Korrick Susan,Koziura Mary,Krier Joel B.,Lalani Seema R.,Lam Byron,Lam Christina,Lanpher Brendan C.,Lanza Ian R.,Lau C. Christopher,LeBlanc Kimberly,Lee Brendan H.,Lee Hane,Levitt Roy,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.,Mak Bryan,Malicdan May Christine V.,Mamounas Laura A.,Manolio Teri A.,Mao Rong,Maravilla Kenneth,Markello Thomas C.,Marom Ronit,Marth Gabor,Martin Beth A.,Martin Martin G.,Martínez-Agosto Julian A.,Marwaha Shruti,McCauley Jacob,McCormack Colleen E.,McCray Alexa T.,McGee Elisabeth,Mefford Heather,Merritt J. Lawrence,Might Matthew,Mirzaa Ghayda,Morava Eva,Moretti Paolo M.,Morimoto Marie,Mulvihill John J.,Murdock David R.,Nakano-Okuno Mariko,Nath Avi,Nelson Stan F.,Newman John H.,Nicholas Sarah K.,Nickerson Deborah,Nieves-Rodriguez Shirley,Novacic Donna,Oglesbee Devin,Orengo James P.,Pace Laura,Pak Stephen,Pallais J. Carl,Papp Jeanette C.,Parker Neil H.,Phillips John A.,Posey Jennifer E.,Potocki Lorraine,Pusey Barbara N.,Quinlan Aaron,Raskind Wendy,Raja Archana N.,Rao Deepak A.,Renteria Genecee,Reuter Chloe M.,Rives Lynette,Robertson Amy K.,Rodan Lance H.,Rosenfeld Jill A.,Rosenwasser Natalie,Ruzhnikov Maura,Sacco Ralph,Sampson Jacinda B.,Samson Susan L.,Saporta Mario,Scott C. Ron,Schaechter Judy,Schedl Timothy,Scott Daryl A.,Sharma Prashant,Shin Jimann,Signer Rebecca,Sillari Catherine H.,Silverman Edwin K.,Sinsheimer Janet S.,Sisco Kathy,Smith Edward C.,Smith Kevin S.,Solem Emily,Solnica-Krezel Lilianna,Stoler Joan M.,Stong Nicholas,Sullivan Jennifer A.,Sun Angela,Sutton Shirley,Sweetser David A.,Sybert Virginia,Tabor Holly K.,Tamburro Cecelia P.,Tekin Mustafa,Telischi Fred,Thorson Willa,Tifft Cynthia J.,Toro Camilo,Tran Alyssa A.,Tucker Brianna M.,Urv Tiina K.,Vanderver Adeline,Velinder Matt,Viskochil Dave,Vogel Tiphanie P.,Wahl Colleen E.,Wallace Stephanie,Walley Nicole M.,Walsh Chris A.,Walker Melissa,Wambach Jennifer,Wan Jijun,Wang Lee-Kai,Wangler Michael F.,Ward Patricia A.,Wegner Daniel,Wener Mark,Wenger Tara,Perry Katherine Wesseling,Westerfield Monte,Wheeler Matthew T.,Whitlock Jordan,Wolfe Lynne A.,Woods Jeremy D.,Yamamoto Shinya,Yang John,Yu Guoyun,Zastrow Diane B.,Zhao Chunli,Zuchner Stephan

Funder

NIH

Hartwell Foundation

Wellcome Trust

Horizon 2020

National Institute for Health Research

Cancer Research UK

Epilepsy Society

Publisher

Elsevier BV

Subject

Genetics (clinical)