Parisa Hemati

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

Slavé Petrovski, Sébastien Küry, Candace T. Myers et al. · The American Journal of Human Genetics · 2016 · 119 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Loss‐of‐function variants in <i>NFIA</i> provide further support that <i>NFIA</i> is a critical gene in 1p32‐p31 deletion syndrome: A four patient series

Anya Revah‐Politi, Mythily Ganapathi, Louise Bier et al. · American Journal of Medical Genetics Part A · 2017 · 54 citations

Life Sciences, Genetics, Molecular Genetics +17

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

Susan M. Hiatt, Matthew B. Neu, Ryne C. Ramaker et al. · PLoS Genetics · 2018 · 34 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Domain-Specific Cognitive Impairments in Humans and Flies With Reduced CYFIP1 Dosage

Young Jae Woo, Alexandros K. Kanellopoulos, Parisa Hemati et al. · Biological Psychiatry · 2019 · 14 citations · Full text

Life Sciences, Neurobiology, Neuroscience +11

4q12–4q21.21 deletion genotype–phenotype correlation and the absence of piebaldism in presence of <i>KIT</i> haploinsufficiency

Parisa Hemati, Christèle du Souich, Cornelius F. Boerkoel · American Journal of Medical Genetics Part A · 2014 · 10 citations

Life Sciences, Genetics, Molecular Genetics +17