Concepedia

Saumya Shekhar Jamuar

SS

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Publications

31

Citations

1.5K

H-Index

20

Active since

2010

Affiliations

KK Women's and Children's Hospital(Current)

Duke-NUS Medical School

SingHealth Duke-NUS Academic Medical Centre

SingHealth

National University of Singapore

Saumya Shekhar Jamuar is an author at KK Women's and Children's Hospital specializing in medicine, genetics, and public health.

ORCID

Top concepts

Publications per year

2010–2024

31

Publications

31

Somatic Mutations in Cerebral Cortical Malformations

Saumya Shekhar Jamuar, Anh-Thu N. Lam, Martin Kircher et al. · New England Journal of Medicine · 2014 · 386 citations · Full text

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 · 189 citations · Full text

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

Alissa M. D’Gama, Sirisha Pochareddy, Mingfeng Li et al. · Neuron · 2015 · 155 citations · Full text

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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 · 77 citations · Full text

Analysis of clinically relevant variants from ancestrally diverse Asian genomes

Sock Hoai Chan, Yasmin Bylstra, Jing Xian Teo et al. · Nature Communications · 2022 · 69 citations · Full text

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