American Journal of Human Genetics

American Journal of Human Genetics Journal

Publication venue for

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder. 108:929-941. 2021
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies. 96:816-825. 2015
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. 97:457-464. 2015

International Standard Serial Number (ISSN)

0002-9297