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

F. Maleady-Crowe; L. Lahnstein; Melis Kayikci; Jennifer McEvoy; Daniel Villalobos-Ramirez; Rauan Kaiyrzhanov; Andrea M. Oza; C. R. Boustred; Brahim Tabarki; I. U. S. Leong; Barbara Vona; Lynn Pais; Athanasios Kousathanas; Amal Alhashem; Dalia Kasperavičiūtė; Patrícia Gonçalves Barbalho; Adam Giess; Marta Bleda; Alistair T. Pagnamenta; Deborah L. Renaud; Gudrun Aubertin; Prabhu Arumugam; Tom Fowler; Mariasavina Severino; Héctor Adrián Díaz Hernández; Helen Brittain; S. E. A. Leigh; Angela Hamblin; Jenny Thies; G. C. Chan; Juvianee Estrada‐Veras; Neda Mazaheri; Mark J. Caulfield; Sanmati Dugad; J. Louise Jones; Abolfazl Rad; Richard V. Jackson; Pratishtha Varshney; Reza Maroofian; Cassidy Petree; Paulina Bahena; Fabrice Lopez; John C. Ambrose; Tipu Sultan; Fatema Alzahrani; Shirley Henderson; Tim Hubbard; Valentina Stanley

doi:10.1038/s41436-021-01239-1

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

F. Maleady-Crowe(Genomics England), L. Lahnstein(Genomics England), Melis Kayikci(Jackson Laboratory), Jennifer McEvoy(Children’s Institute), Daniel Villalobos-Ramirez(University of Würzburg), Rauan Kaiyrzhanov(National Hospital for Neurology and Neurosurgery), Andrea M. Oza(Boston Children's Hospital), C. R. Boustred(Jackson Laboratory), Brahim Tabarki(Riyadh Armed Forces Hospital), I. U. S. Leong(Genomics England), Barbara Vona(Broad Institute), Lynn Pais(MACOM (United States)), Athanasios Kousathanas(Jackson Laboratory), Amal Alhashem(Riyadh Armed Forces Hospital), Dalia Kasperavičiūtė(University of Leeds), Patrícia Gonçalves Barbalho(Oklahoma Medical Research Foundation), Adam Giess(Jackson Laboratory), Marta Bleda(University of Cambridge), Alistair T. Pagnamenta(University College London), Deborah L. Renaud(Mayo Clinic in Florida), Gudrun Aubertin(Island Health), Prabhu Arumugam(Jackson Laboratory), Tom Fowler(UK Health Security Agency), Mariasavina Severino(Istituto Giannina Gaslini), Héctor Adrián Díaz Hernández(Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán), Helen Brittain(Great Ormond Street Hospital), S. E. A. Leigh(Queen Mary University of London), Angela Hamblin(Genomics England), Jenny Thies(Seattle Children's Hospital), G. C. Chan(Jackson Laboratory), Juvianee Estrada‐Veras(Walter Reed National Military Medical Center), Neda Mazaheri(Shahid Chamran University of Ahvaz), Mark J. Caulfield(Queen Mary University of London), Sanmati Dugad(Savitribai Phule Pune University), J. Louise Jones(Queen Mary University of London), Abolfazl Rad(Sabzevar University of Medical Sciences), Richard V. Jackson(Genomics England), Pratishtha Varshney(Oklahoma Medical Research Foundation), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Cassidy Petree(Oklahoma Medical Research Foundation), Paulina Bahena(University of Würzburg), Fabrice Lopez(Genomics England), John C. Ambrose(Jackson Laboratory), Tipu Sultan(Cukurova University), Fatema Alzahrani(King Faisal Specialist Hospital & Research Centre), Shirley Henderson(Genomics England), Tim Hubbard(King's College London), Valentina Stanley(Children’s Institute)

Genetics in Medicine

June 25, 2021

10.1038/s41436-021-01239-1

Cited by 31

Related Papers

GENCODE: The reference human genome annotation for The ENCODE Project

|Genome Research|2012|5k

Prevention of coronary and stroke events with atorvastatin in hypertensive patients who have average or lower-than-average cholesterol concentrations, in the Anglo-Scandinavian Cardiac Outcomes Trial—Lipid Lowering Arm (ASCOT-LLA): a multicentre randomised controlled trial

|The Lancet|2003|3.8k

Prevention of cardiovascular events with an antihypertensive regimen of amlodipine adding perindopril as required versus atenolol adding bendroflumethiazide as required, in the Anglo-Scandinavian Cardiac Outcomes Trial-Blood Pressure Lowering Arm (ASCOT-BPLA): a multicentre randomised controlled trial

|The Lancet|2005|2.9k

Blood pressure and incidence of twelve cardiovascular diseases: lifetime risks, healthy life-years lost, and age-specific associations in 1·25 million people

|The Lancet|2014|1.6k

PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

|Nature Genetics|2019|590