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American Journal of Human Genetics|January 22, 2013
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminusGea Beunders, Els Voorhoeve, Christelle Golzio, et al.Science Advances|December 3, 2020
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patientsLaura Bryant, Dong Li, Samuel G Cox, et al.Nature Genetics|November 15, 2016
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomaliesClaire Redin, Harrison Brand, Ryan L Collins, et al.Pageof 2