Sonal Mahida

Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort

Anne Rochtus, Heather E. Olson, Lacey Smith et al. · Epilepsia · 2020 · 123 citations · Full text

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

Hanyin Cheng, Avinash V. Dharmadhikari, Sylvia Varland et al. · The American Journal of Human Genetics · 2018 · 85 citations · Full text

Neurodevelopmental Disorders, Developmental Anomaly, Developmental Biology +10

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

Konrad Platzer, Heinrich Sticht, Stacey L. Edwards et al. · The American Journal of Human Genetics · 2019 · 75 citations · Full text

Allelic Variant, Variable Brain Anomalies, Genetic Disorder +9

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 · 73 citations

A genome-wide DNA methylation signature for SETD1B-related syndrome

I. Krzyzewska, Saskia M. Maas, Peter Henneman et al. · Clinical Epigenetics · 2019 · 65 citations · Full text