Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3 Article

International Collaboration

author list

  • Schirwani, Schaida; Albaba, Shadi; Carere, Deanna Alexis; Guillen Sacoto, Maria J.; Milan Zamora, Francisca; Si, Yue; Rabin, Rachel; Pappas, John; Renaud, Deborah L.; Hauser, Natalie; Reid, Evan; Blanchet, Patricia; Foulds, Nichola; Dixit, Abhijit; Fisher, Richard; Armstrong, Ruth; Isidor, Bertrand; Cogne, Benjamin; Schrier Vergano, Samantha; Demirdas, Serwet; Dykzeul, Natalie; Cohen, Julie S.; Grand, Katheryn; Morel, Dayna; Slavotinek, Anne; Albassam, Hessa F.; Naik, Swati; Dean, John; Ragge, Nicola; Cinzia, Costa; Tedesco, Maria Giovanna; Harrison, Rachel E.; Bouman, Arjan; Palen, Emily; Challman, Thomas D.; Willemsen, Marjolein H.; Vogt, Julie; Cunniff, Christopher; Bergstrom, Katherine; Walia, Jagdeep S.; Bruel, Ange-Line; Kini, Usha; Alkuraya, Fowzan S.; Slegesky, Valerie; Meeks, Naomi; Girotto, Paula; Johnson, Diana; Newbury-Ecob, Ruth; Newbury-Ecob, Ruth; Ockeloen, Charlotte W.; Prontera, Paolo; Lynch, Sally Ann; Li, Dong; Graham, John M., Jr.; Balasubramanian, Meena; DDD Study

publication date

  • August 26, 2021

webpage

category

keywords

  • ASXL3
  • ASXL3-related syndrome
  • BRPS
  • Bainbridge-Ropers syndrome
  • intellectual disability
  • speech impairment