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

Document Details

Document Type
Pub Defense Publication
Publication Date
Feb 01, 2021
Source ID
10.1016/j.ajhg.2021.01.008

Entities

People

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

Organizations

  • Alberta Children’s Hospital Foundation
  • American Society of Pediatric Nephrology
  • AstraZeneca
  • Canadian Institutes of Health Research
  • Canadian Society of Nephrology
  • German Research Foundation
  • Kidney Foundation of Canada
  • Kidney Research UK
  • Medical Research Council
  • National Center for Advancing Translational Sciences
  • National Institute for Health and Care Research
  • National Institutes of Health
  • United States Department of Defense