Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

Author:

Lin Sheng-JiaORCID,Vona Barbara,Barbalho Patricia G.,Kaiyrzhanov Rauan,Maroofian Reza,Petree Cassidy,Severino Mariasavina,Stanley Valentina,Varshney Pratishtha,Bahena Paulina,Alzahrani Fatema,Alhashem Amal,Pagnamenta Alistair T.,Aubertin Gudrun,Estrada-Veras Juvianee I.,Hernández Héctor Adrián Díaz,Mazaheri Neda,Oza Andrea,Thies Jenny,Renaud Deborah L.,Dugad Sanmati,McEvoy Jennifer,Sultan Tipu,Pais Lynn S.,Tabarki Brahim,Villalobos-Ramirez Daniel,Rad Aboulfazl,Ambrose J.C.,Arumugam P.,Bleda M.,Boardman-Pretty F.,Boustred C.R.,Brittain H.,Caulfield M.J.,Chan G.C.,Fowler T.,Giess A.,Hamblin A.,Henderson S.,Hubbard T.J.P.,Jackson R.,Jones L.J.,Kasperaviciute D.,Kayikci M.,Kousathanas A.,Lahnstein L.,Leigh S.E.A.,Leong I.U.S.,Lopez F.J.,Maleady-Crowe F.,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.,Thomas E.R.A.,Thompson S.R.,Tucci A.,Walsh E.,Welland M.J.,Williams E.,Witkowska K.,Wood S.M.,Galehdari Hamid,Ashrafzadeh Farah,Sahebzamani Afsaneh,Saeidi Kolsoum,Torti Erin,Elloumi Houda Z.,Mora Sara,Palculict Timothy B.,Yang Hui,Wren Jonathan D.,Ben Fowler ,Joshi Manali,Behra Martine,Burgess Shawn M.,Nath Swapan K.,Hanna Michael G.,Kenna Margaret,Merritt J. Lawrence,Houlden Henry,Karimiani Ehsan Ghayoor,Zaki Maha S.,Haaf Thomas,Alkuraya Fowzan S.,Gleeson Joseph G.,Varshney Gaurav K.

Funder

National Institute of General Medical Sciences

National Institute of Neurological Disorders and Stroke

National Human Genome Research Institute

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference40 articles.

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