Shilpa Nadimpalli Kobren

7PUBLICATIONS
23CO-AUTHORS
Cell and nuclear divisionMedical molecular engineering of nucleic acids and proteinsGene expression (incl. microarray and other genome-wide approaches)Cancer genetics
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Publications (7)

|Oct 25, 2026
Overcoming a diagnostic blindspot: Identifying balanced translocations in Mendelian rare disease cohorts.

|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

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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