Saumya Shekhar Jamuar

Somatic Mutations in Cerebral Cortical Malformations

Saumya Shekhar Jamuar, Anh-Thu N. Lam, Martin Kircher et al. · New England Journal of Medicine · 2014 · 394 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing

Elaine Chen, Flavia M. Facio, Kerry Aradhya et al. · JAMA Network Open · 2023 · 217 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms

Alissa M. D’Gama, Sirisha Pochareddy, Mingfeng Li et al. · Neuron · 2015 · 156 citations · Full text

Life Sciences, Genetics, Neuroscience +14

Analysis of clinically relevant variants from ancestrally diverse Asian genomes

Sock Hoai Chan, Yasmin Bylstra, Jing Xian Teo et al. · Nature Communications · 2022 · 81 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Biallelic mutations in human DCC cause developmental split-brain syndrome

Saumya Shekhar Jamuar, Klaus Schmitz‐Abe, Alissa M. D’Gama et al. · Nature Genetics · 2017 · 79 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12