Concepedia

Shilpa N. Kobren

SN

8

Publications

144

Citations

8

H-Index

2018

Active since

Affiliations

Harvard University(Current)

Boston Children's Hospital

Baylor College of Medicine

National Human Genome Research Institute

Brigham and Women's Hospital

Shilpa N. Kobren is an author at Harvard University specializing in neurodevelopmental disorders, neurogenetics, and social sciences.

ORCID

Top concepts

Publications per year

2018–2025

8

Publications

8

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Shilpa N. Kobren, Dustin Baldridge, Matt Velinder et al. · Genetics in Medicine · 2021 · 32 citations · Full text

RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci

Sarah Fazal, Matt C. Danzi, Isaac Xu et al. · Genome biology · 2024 · 20 citations · Full text

Systematic domain-based aggregation of protein structures highlights DNA-, RNA- and other ligand-binding positions

Shilpa N. Kobren, Mona Singh · Nucleic Acids Research · 2018 · 19 citations · Full text

A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

Suma P. Shankar, Kristin Grimsrud, Louise Lanoue et al. · Genetics in Medicine · 2022 · 16 citations · Full text

The contribution of mosaicism to genetic diseases and de novo pathogenic variants

Rory J. Tinker, Lisa Bastarache, Kimberly Ezell et al. · American Journal of Medical Genetics Part A · 2023 · 16 citations · Full text

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