Quinn Stein

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Lot Snijders Blok, Erik Madsen, Jane Juusola et al. · The American Journal of Human Genetics · 2015 · 339 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder

Andrea K. Vaags, Anath C. Lionel, Daisuke Sato et al. · The American Journal of Human Genetics · 2011 · 215 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures

Xiaochang Zhang, Jiqiang Ling, Giulia Barcia et al. · The American Journal of Human Genetics · 2014 · 136 citations · Full text

Life Sciences, Genetics, Neuroscience +11

Natural history and genotype‐phenotype correlations in 72 individuals with <i>SATB2</i>‐associated syndrome

Yuri A. Zárate, Constance Smith‐Hicks, Carol L. Greene et al. · American Journal of Medical Genetics Part A · 2018 · 75 citations

Medicine, Speech-language Pathology, Articulation Disorders +16

Further supporting evidence for the <i>SATB2</i>‐associated syndrome found through whole exome sequencing

Yuri A. Zárate, Hazel Perry, Tawfeg Ben‐Omran et al. · American Journal of Medical Genetics Part A · 2015 · 57 citations

Life Sciences, Genetics, Molecular Genetics +16