Shilpa Nadimpalli Kobren
6PUBLICATIONS
19CO-AUTHORS
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Publications (6)
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|Feb 06, 2026
Phenotype-first patient matching with SimPheny identifies diagnostic candidates beyond curated gene associations.Isabelle B Cooperstein, Alistair Ward, Shilpa N Kobren
|Aug 06, 2025
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.Shilpa Nadimpalli Kobren, Mikhail A Moldovan, Rebecca Reimers
|May 03, 2024
VarPPUD: Variant post prioritization developed for undiagnosed genetic disorders.Rui Yin, Alba Gutierrez, Shilpa Nadimpalli Kobren
|May 03, 2024
Phenotypic overlap between rare disease patients and variant carriers in a large population cohort informs biological mechanisms.Lane Fitzsimmons, Brett Beaulieu-Jones, Shilpa Nadimpalli Kobren
|Feb 26, 2024
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.Shilpa Nadimpalli Kobren, Mikhail A Moldovan, Rebecca Reimers
|Oct 12, 2023
Simulation of undiagnosed patients with novel genetic conditions.Emily Alsentzer, Samuel G Finlayson, Michelle M Li
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Frequent Collaborators
2 joint publications
Isaac S Kohane
2 joint publications
Xinyun Li
2 joint publications
George de V Carvalho Neto
2 joint publications
Shamil R Sunyaev
1 joint publications
Isabelle B Cooperstein
1 joint publications
Alistair Ward
1 joint publications
Barry Moore
1 joint publications
Rebecca C Spillmann
1 joint publications
Gabor T Marth
1 joint publications
Mikhail A Moldovan
