De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

Author:

Weng Patricia L.,Majmundar Amar J.,Khan Kamal,Lim Tze Y.,Shril Shirlee,Jin Gina,Musgrove John,Wang Minxian,Ahram Dina F.,Aggarwal Vimla S.,Bier Louise E.,Heinzen Erin L.,Onuchic-Whitford Ana C.,Mann Nina,Buerger Florian,Schneider Ronen,Deutsch Konstantin,Kitzler Thomas M.,Klämbt Verena,Kolb Amy,Mao Youying,Moufawad El Achkar Christelle,Mitrotti Adele,Martino Jeremiah,Beck Bodo B.,Altmüller Janine,Benz Marcus R.,Yano Shoji,Mikati Mohamad A.,Gunduz Talha,Cope Heidi,Shashi Vandana,Trachtman Howard,Bodria Monica,Caridi Gianluca,Pisani Isabella,Fiaccadori Enrico,AbuMaziad Asmaa S.,Martinez-Agosto Julian A.,Yadin Ora,Zuckerman Jonathan,Kim Arang,John-Kroegel Ulrike,Tyndall Amanda V.,Parboosingh Jillian S.,Innes A. Micheil,Bierzynska Agnieszka,Koziell Ania B.,Muorah Mordi,Saleem Moin A.,Hoefele Julia,Riedhammer Korbinian M.,Gharavi Ali G.,Jobanputra Vaidehi,Pierce-Hoffman Emma,Seaby Eleanor G.,O’Donnell-Luria Anne,Rehm Heidi L.,Mane Shrikant,D’Agati Vivette D.,Pollak Martin R.,Ghiggeri Gian Marco,Lifton Richard P.,Goldstein David B.,Davis Erica E.,Hildebrandt Friedhelm,Sanna-Cherchi Simone

Funder

Manton Center for Orphan Disease Research, Boston Children's Hospital

Higher Education Commision, Pakistan

AstraZeneca

Alberta Children's Hospital Foundation

Alberta Children's Hospital Research Institute

American Society of Pediatric Nephrology

Kidney Research UK

National Institutes of Health

Medical Research Council

Canadian Institutes of Health Research

U.S. Department of Defense

Deutsche Forschungsgemeinschaft

National Center for Advancing Translational Sciences

Kidney Foundation of Canada

National Institute for Health Research

Canadian Society of Nephrology

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

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