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

错义突变 表型 移码突变 基因敲除 外显子组测序 生物 神经发育障碍 等位基因 遗传学 基因
作者
Lauren Jeffries,Emily K. Mis,Kirsty McWalter,Sandra Donkervoort,Nina N. Brodsky,Jean-Marie Carpier,Weizhen Ji,Cristian Ionita,Bhaskar Roy,Jon S. Morrow,Armine Darbinyan,Krishna Iyer,Ritu B. Aul,Siddharth Banka,Katherine R. Chao,Laura C. Cobbold,Stacey Cohen,Helena Martins Custodio,Margaret Drummond‐Borg,Frances Elmslie,Erika Finanger,Bryan E. Hainline,Ingo Helbig,Stacy Hewson,Ying Hu,Adam Jackson,Dragana Josifova,Monica Konstantino,M. Leach,Bryan C. Mak,David L. McCormick,Elisabeth McGee,Stanley F. Nelson,Joanne Nguyen,Kimberly Nugent,Lucy Ortega,Howard P. Goodkin,Elizabeth Roeder,Sani Roy,Katie Sapp,Dimah Saade,Sanjay M. Sisodiya,Karen Stals,Shelley Towner,William G. Wilson,Mustafa K. Khokha,Carsten G. Bönnemann,C. Lucas,Saquib A. Lakhani,Sílvia Borràs,Caroline Clark,John Dean,Zosia Miedzybrodzka,Alison Ross,Stephen Tennant,Tabib Dabir,Deirdre Donnelly,Mervyn Humphreys,Alex Magee,Vivienne McConnell,Shane McKee,Susan McNerlan,Patrick J. Morrison,Gillian Rea,Fiona Stewart,Trevor Cole,Nicola Cooper,Lisa Cooper‐Charles,Helen Cox,Lily Islam,Joanna Jarvis,Rebecca Keelagher,Derek Lim,Dominic McMullan,Jenny Morton,Swati Naik,Mary O’Driscoll,Kai‐Ren Ong,Deborah Osio,Nicola Ragge,Sarah Turton,Julie Vogt,Denise Williams,Simon Bodek,Alan Donaldson,Alison Hills,Karen Low,Ruth Newbury-Ecob,Andrew Norman,Eileen Roberts,Ingrid Scurr,Sarah Smithson,Madeleine Tooley,Stephen Abbs,Ruth Armstrong,Carolyn Dunn,Simon Holden,Soo-Mi Park,J. Paterson,Lucy Raymond,Evan Reid,Richard Sandford,Ingrid Simonic,Marc Tischkowitz,Geoff Woods,Lisa Bradley,Joanne Comerford,Andrew Green,Sally Ann Lynch,Shirley McQuaid,Brendan Mullaney,Jonathan Berg,David Goudie,Eleni Mavrak,Joanne McLean,Catherine McWilliam,Eleanor Reavey,Tara Azam,Elaine Cleary,Andrew P. Jackson,Wayne Lam,Anne Lampe,David Moore,Mary Porteous,Emma L. Baple,Júlia Baptista,Carole Brewer,Bruce Castle,Emma Kivuva,Martina Owens,Julia Rankin,Charles Shaw‐Smith,Claire Turner,Peter D. Turnpenny,Carolyn Tysoe,Therese Bradley,Rosemarie Davidson,Carol Gardiner,Shelagh Joss,Esther Kinning,Cheryl Longman,Ruth McGowan,Victoria Murday,Daniela T. Pilz,Edward S. Tobias,Margo Whiteford,Nicola Williams,Angela Barnicoat,Emma Clement,Francesca Faravelli,Jane L. Hurst,Lucy Jenkins,Wendy D. Jones,Vipul Kumar,Melissa Lees,Sam Loughlin,Alison Male,Deborah Morrogh,Elisabeth Rosser,Richard H. Scott,Louise Wilson,Ana Beleza‐Meireles,Charu Deshpande,Frances Flinter,Muriel Holder,Melita Irving,Louise Izatt,Dragana Josifova,Shehla Mohammed,Aneta Molenda,Leema Robert,Wendy Wassyng Roworth,Deborah Ruddy,Mina Ryten,Shu Yau,Christopher Bennett,Moira Blyth,Jennifer Campbell,Andrea Coates,Angus Dobbie,Sarah Hewitt,Emma Hobson,Eilidh Jackson,Rosalyn Jewell,Alison Kraus,Katrina Prescott,Eamonn Sheridan,Jenny Thomson,Kirsty Bradshaw,Abhijit Dixit,Jacqueline Eason,Rebecca L. Haines,Rachel Harrison,Stacey Mutch,Ajoy Sarkar,Claire Searle,Nora Shannon,Abid Sharif,Mohnish Suri,Pradeep Vasudevan,Natalie Canham,Ian O. Ellis,Lynn Greenhalgh,Emma Howard,Victoria Stinton,Andrew Swale,Astrid Weber,Siddharth Banka,Catherine Breen,Tracy A. Briggs,Emma Burkitt‐Wright,Kate Chandler,Jill Clayton‐Smith,Dian Donnai,Sofia Douzgou,Lorraine Gaunt,Elizabeth A. Jones,Bronwyn Kerr,Claire Langley,Kay Metcalfe,Audrey Smith,Ronnie Wright,David Bourn,John Burn,Richard Fisher,Steve Hellens,Alex Henderson,Tara Montgomery,Miranda Splitt,Volker Straub,Michael Wright,Simon Zwolinski,Zoe Allen,Birgitta Bernhard,Angela F. Brady,Claire Brooks,Louise Busby,Virginia Clowes,Neeti Ghali,Susan Holder,Rita Ibitoye,Emma Wakeling,Edward Blair,Jenny Carmichael,Deirdre Cilliers,Susan Clasper,Richard J. Gibbons,Usha Kini,Tracy Lester,Andrea H. Németh,Joanna Poulton,Sue Price,Debbie Shears,Helen Stewart,Andrew O.M. Wilkie,Shadi Albaba,Duncan Baker,Meena Balasubramanian,Diana Johnson,Michael Parker,Oliver Quarrell,Alison Stewart,Josh Willoughby,Andrew H. Crosby,Frances Elmslie,Tessa Homfray,Huilin Jin,Nayana Lahiri,Sahar Mansour,Karen Marks,Meriel McEntagart,Anand Saggar,Kate Tatton‐Brown,Rachel Butler,Angus Clarke,Sian Corrin,Andrew E. Fry,Arveen Kamath,Emma McCann,Hood Mugalaasi,Caroline Pottinger,Annie Procter,Julian R. Sampson,Francis H. Sansbury,Vinod Varghese,Diana Baralle,Alison Callaway,Emma J. Cassidy,S. Daniels,Andrew G. L. Douglas,Nicola Foulds,David Hunt,Mira Kharbanda,Katherine Lachlan,Catherine Mercer,Lucy Side,I. Karen Temple,Diana Wellesley,John C. Ambrose,P. Arumugam,Emma L. Baple,Marta Bleda,F. Boardman-Pretty,J. M. Boissiere,C. R. Boustred,Mark J. Caulfield,G. C. Chan,C.E.H. Craig,Louise C. Daugherty,Anna de Burca,A. Devereau,Greg Elgar,Rebecca E. Foulger,Tom Fowler,Pedro Furió‐Tarí,J.M. Hackett,Dina Halai,Angela Hamblin,S. A. Henderson,John E. Holman,Tim Hubbard,Kristina Ibáñez,R. Jackson,J. Louise Jones,D. Kasperaviciute,Melis Kayikci,L. Lahnstein,Katy L. Lawson,S. E. A. Leigh,Ivone Leong,Fabrice Lopez,F. Maleady-Crowe,James Mason,Ellen M. McDonagh,L. Moutsianas,Melanie Mueller,Nirupa Murugaesu,Anna C. Need,Christopher A. Odhams,Christine Patch,D. Perez-Gil,Dimitris Polychronopoulos,J. Pullinger,T. Rahim,Álvaro Rendón,Pablo Riesgo-Ferreiro,T. Rogers,Mina Ryten,K. Savage,K. Sawant,Richard H. Scott,Afshan Siddiq,A. Sieghart,D. Smedley,Kirstin Smith,A. Sosinsky,Will Spooner,Hallam Stevens,Alexander Stuckey,Rosy Sultana,Ellen Thomas,Simon R. Thompson,Arianna Tucci,Emily Walsh,Scott Watters,M.J. Welland,E. Williams,Katarzyna Witkowska,Maria T. Acosta,Margaret P Adam,David R. Adams,Pankaj B. Agrawal,Mercedes E. Alejandro,Justin Alvey,Laura M. Amendola,Ashley Andrews,Euan A. Ashley,Mahshid S. Azamian,Carlos A. Bacino,Güney Bademci,Eva H. Baker,Ashok Balasubramanyam,Dustin Baldridge,Jim Bale,Michael J. Bamshad,Deborah Barbouth,Pinar Bayrak‐Toydemir,Anita E. Beck,Alan H. Beggs,Edward M. Behrens,Gill Bejerano,Jimmy Bennet,Beverly Berg-Rood,Jonathan A. Bernstein,Gerard T. Berry,Anna Bican,Stephanie Bivona,Elizabeth Blue,John F. Bohnsack,Carsten Bonnenmann,Devon Bonner,Lorenzo D. Botto,Brenna Boyd,Lauren C. Briere,Elly Brokamp,Gabrielle Brown,Elizabeth A. Burke,Lindsay C. Burrage,Manish J. Butte,Peter H. Byers,William E. Byrd,John C. Carey,Olveen Carrasquillo,Ta C. Chang,Sirisak Chanprasert,Hsiao‐Tuan Chao,Gary Clark,Terra R. Coakley,Laurel A. Cobban,Joy D. Cogan,Matthew Coggins,F. Sessions Cole,Heather A. Colley,Cynthia M. Cooper,William J. Craigen,Andrew B. Crouse,Michael L. Cunningham,Precilla D’Souza,Hongzheng Dai,Surendra Dasari,Mariska Davids,Jyoti G. Dayal,Matthew A. Deardorff,Esteban C. Dell’Angelica,Shweta U. Dhar,Katrina M. Dipple,Daniel Doherty,Naghmeh Dorrani,Emilie D. Douine,David D. Draper,Laura Duncan,Dawn Earl,David J. Eckstein,Lisa Emrick,Christine M. Eng,Cecilia Esteves,Tyra Estwick,Marni J. Falk,Liliana Fernández,Carlos R. Ferreira,Elizabeth L. Fieg,Laurie C. Findley,Paul G. Fisher,Brent L. Fogel,Irman Forghani,Laure Frésard,William A. Gahl,I. S. Glass,Rena A. Godfrey,Katie Golden‐Grant,Alica M. Goldman,David B. Goldstein,Alana Grajewski,Catherine Groden,Andrea Gropman,Irma Gutierrez,Sihoun Hahn,Rizwan Hamid,Neil A. Hanchard,Kelly Hassey,Nichole Hayes,Frances A. High,Anne Hing,Fuki M. Hisama,Ingrid A. Holm,Jason Hom,Martha Horike‐Pyne,Alden Huang,Yong Huang,Rosario Isasi,Fariha Jamal,Gail P. Jarvik,Jeffrey G. Jarvik,Suman Jayadev,Jean M. Johnston,Lefkothea Karaviti,Emily G. Kelley,J. Phillip Kennedy,Dana Kiley,Isaac S. Kohane,Jennefer N. Kohler,Deborah Krakow,Donna M. Krasnewich,Elijah Kravets,Susan Korrick,Mary Koziura,Joel B. Krier,Seema R. Lalani,Byron Lam,Christina Lam,Brendan C. Lanpher,Ian R. Lanza,C. Christopher Lau,Kimberly LeBlanc,Brendan Lee,Hane Lee,Roy C. Levitt,Richard A. Lewis,Sharyn A. Lincoln,Pengfei Liu,Xue Zhong Liu,Nicola Longo,Sandra K. Loo,Joseph Loscalzo,Richard L. Maas,Ellen F. Macnamara,Calum A. MacRae,Valerie V. Maduro,Marta M. Majcherska,Bryan C. Mak,May Christine V. Malicdan,Laura A. Mamounas,Teri A. Manolio,Rong Mao,Kenneth R. Maravilla,Thomas C. Markello,Ronit Marom,Gábor Marth,Beth A. Martin,Martín G. Martín,Julián A. Martínez-Agosto,Shruti Marwaha,Jacob L. McCauley,Colleen E. McCormack,Alexa T. McCray,Elisabeth McGee,Heather C. Mefford,J. Lawrence Merritt,Matthew Might,Ghayda Mirzaa,Éva Morava,Paolo Moretti,Marie Morimoto,John J. Mulvihill,David R. Murdock,Mariko Nakano‐Okuno,Avi Nath,Stan F. Nelson,John H. Newman,Sarah K. Nicholas,Deborah A. Nickerson,Shirley Nieves‐Rodriguez,Donna Novacic,Devin Oglesbee,James P. Orengo,Laura Pace,Stephen C. Pak,J. Carl Pallais,Jeanette C. Papp,Neil H. Parker,John A. Phillips,Jennifer E. Posey,Lorraine Potocki,Barbara N. Pusey,Aaron R. Quinlan,Wendy H. Raskind,Archana N. Raja,Stephen C. Pak,Genecee Renteria,Chloe M. Reuter,Lynette Rives,Amy K. Robertson,Lance H. Rodan,Jill A. Rosenfeld,Natalie Rosenwasser,Maura Ruzhnikov,Ralph L. Sacco,Jacinda B. Sampson,Susan L. Samson,Mario Saporta,C. Ron Scott,Judy Schaechter,Timothy Schedl,Daryl A. Scott,Prashant K. Sharma,Jimann Shin,Rebecca Signer,Catherine H. Sillari,Edwin K. Silverman,Janet S. Sinsheimer,Kathy Sisco,Edward C. Smith,Kevin S. Smith,Emily Solem,Lilianna Solnica‐Krezel,Joan M. Stoler,Nicholas Stong,Jennifer A. Sullivan,Angela Sun,Shirley Sutton,David A. Sweetser,Virginia P. Sybert,Holly K. Tabor,Cecelia P. Tamburro,Mustafa Tekin,Fred F. Telischi,Willa Thorson,Cynthia J. Tifft,Camilo Toro,Alyssa A. Tran,Brianna M. Tucker,Tiina K. Urv,Adeline Vanderver,Matt Velinder,Dave Viskochil,Tiphanie P. Vogel,Colleen E. Wahl,Stephanie E Wallace,Sophie Nicole,Chris A. Walsh,Melissa Walker,Jennifer Wambach,Jijun Wan,Lee-kai Wang,Michael F. Wangler,Patricia A. Ward,Daniel Wegner,Mark H. Wener,Tara Wenger,Katherine Wesseling Perry,Monte Westerfield,Matthew T. Wheeler,Jordan Whitlock,Lynne A. Wolfe,Jeremy D. Woods,Shinya Yamamoto,John Yang,Guoyun Yu,Diane B. Zastrow,Chunli Zhao,Stephan Züchner
出处
期刊:Genetics in Medicine [Springer Nature]
卷期号:26 (2): 101023-101023 被引量:4
标识
DOI:10.1016/j.gim.2023.101023
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