SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile-Reference-Cited by-同舟云学术

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

Published:2022-06 Issue:6 Volume:24 Page:1261-1273
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Al-Jawahiri Reem,Foroutan Aidin,Kerkhof Jennifer,McConkey Haley,Levy Michael,Haghshenas Sadegheh,Rooney Kathleen,Turner Jasmin,Shears Debbie,Holder Muriel,Lefroy Henrietta,Castle Bruce,Reis Linda M.,Semina Elena V.,Lachlan Katherine,Chandler Kate,Wright Thomas,Clayton-Smith Jill,Hug Franziska Phan,Pitteloud Nelly,Bartoloni Lucia,Hoffjan Sabine,Park Soo-Mi,Thankamony Ajay,Lees Melissa,Wakeling Emma,Naik Swati,Hanker Britta,Girisha Katta M.,Agolini Emanuele,Giuseppe Zampino,Alban Ziegler,Tessarech Marine,Keren Boris,Afenjar Alexandra,Zweier Christiane,Reis Andre,Smol Thomas,Tsurusaki Yoshinori,Nobuhiko Okamoto,Sekiguchi Futoshi,Tsuchida Naomi,Matsumoto Naomichi,Kou Ikuyo,Yonezawa Yoshiro,Ikegawa Shiro,Callewaert Bert,Freeth Megan,Kleinendorst Lotte,Donaldson Alan,Alders Marielle,De Paepe Anne,Sadikovic Bekim,McNeill Alisdair^ORCID,Nickerson Deborah,Bamshad Michael,Leal Suzanne,Ambrose John C.,Arumugam Prabhu,Bevers Roel,Bleda Marta,Boardman-Pretty Freya,Boustred Christopher R.,Brittain Helen,Caulfield Mark J.,Chan Georgia C.,Elgar Greg,Fowler Tom,Giess Adam,Hamblin Angela,Henderson Shirley,Hubbard Tim J.P.,Jackson Rob,Jones Louise J.,Kasperaviciute Dalia,Kayikci Melis,Kousathanas Athanasios,Lahnstein Lea,Leigh Sarah E.A.,Leong Ivonne U.S.,Lopez Javier F.,FionaMaleady-Crowe ,McEntagart Meriel,Minneci Federico,Moutsianas Loukas,Mueller Michael,Murugaesu Nirupa,Need Anna C.,O’Donovan Peter,Odhams Chris A.,Patch Christine,Pereira Mariana Buongermino,Perez-Gil Daniel,Pullinger John,TahrimaRahim ,Rendon Augusto,TimRogers ,Savage Kevin,Sawant Kushmita,Scott Richard H.,Siddiq Afshan,Sieghart Alexander,Smith Samuel C.,Sosinsky Alona,Stuckey Alexander,Tanguy Mélanie,Taylor Tavares Ana Lisa,Thomas Ellen R.A.,Thompson Simon R.,Tucci Arianna,Welland Matthew J.,Williams Eleanor,Witkowska Katarzyna,Wood Suzanne M.

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference39 articles.

1. Mutational landscapes and phenotypic spectrum of SWI/SNF-related intellectual disability disorders;Bögershausen;Front Mol Neurosci,2018

2. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome;van der Sluijs;Genet Med,2019

3. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data;Wright;Lancet,2015

4. Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome;Vasileiou;Am J Hum Genet,2018

5. Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A;Kosho;Am J Med Genet C Semin Med Genet,2014

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