Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3

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

*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

11 Citations (Scopus)

Fingerprint

Dive into the research topics of 'Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3'. Together they form a unique fingerprint.

Biochemistry, Genetics and Molecular Biology