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Autism Research : Official Journal of the International Society for Autism Research|March 17, 2026
The E3 Ubiquitin Ligase UBE3B Regulates Synaptic Development and Cortical Network ActivityShayal Vashisth, Aleya Shedd, Ariel Aiken, et al.
Cell Genomics|July 26, 2023
The genetics of autism spectrum disorder in an East African familial cohortIslam Oguz Tuncay, Darlene DeVries, Ashlesha Gogate, et al.
American Journal of Medical Genetics. Part A|January 8, 2005
Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31Asif Mir, Muhammad Ansar, Maria H Chahrour, et al.
Human Heredity|December 8, 2004
DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22Muhammad Ansar, Maria H Chahrour, Mohammad Amin Ud Din, et al.
American Journal of Medical Genetics. Part A|January 11, 2005
A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3Muhammad Aslam, Muhammad Wajid, Maria H Chahrour, et al.
NPJ Genomic Medicine|February 22, 2022
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variantsIslam Oguz Tuncay, Nancy L Parmalee, Raida Khalil, et al.
Journal of Molecular Medicine (Berlin, Germany)|January 4, 2006
Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairmentRegie Lyn P Santos, Hatem El-Shanti, Shaheen Sikandar, et al.
Plos Genetics|April 19, 2012
Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autismMaria H Chahrour, Timothy W Yu, Elaine T Lim, et al.
Human Genetics|November 2, 2005
A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3Muhammad Jawad Hassan, Regie Lyn P Santos, Muhammad Arshad Rafiq, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 28, 2019
The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDKSolmi Cheon, Kiran Kaur, Nadine Nijem, et al.
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