Shilpa N. Kobren

Biochemistry, Genetics and Molecular Biology

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 17 papers. Top paper: “Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases”.

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Genetics in Medicine(2021)10.1038/s41436-020-01084-8

N/A

0.533DataRank · unranked

34 citations

Dustin Baldridge, Matt Velinder, Joel B. Krier, Kimberly LeBlanc, Cecilia Esteves +90 more

Simulation of undiagnosed patients with novel genetic conditions

Nature Communications(2023)10.1038/s41467-023-41980-6

N/A

0.413DataRank · unranked

10 citations

Samuel G. Finlayson, Michelle M. Li, Undiagnosed Diseases Network, Shilpa N. Kobren, Isaac S. Kohane +1 more

Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability

Proceedings of the National Academy of Sciences(2024)10.1073/pnas.2322582121

N/A

0.292DataRank · unranked

6 citations

Oguz Kanca, Rishi V. Shridharan, Paul C. Marcogliese, Benjamin Steger, Marie Morimoto +92 more

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

Nature Communications(2025)10.1038/s41467-025-61712-2

N/A

0.269DataRank · unranked

5 citations

Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia, Xinyun Li, Danielle Barnum +95 more

Polygenic risk scores for autoimmune related diseases are significantly different in cancer exceptional responders

npj Precision Oncology(2024)10.1038/s41698-024-00613-x

N/A

0.266DataRank · unranked

4 citations

Amelia L.M. Tan, Maria Clara Saad Menezes, Jenny Mao, Cassandra Perry, Margaret E. Vella +5 more

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

Genetics in Medicine(2024)10.1016/j.gim.2024.101174

N/A

0.241DataRank · unranked

4 citations

Kristhen N Atala, Yiming Zheng, Debdeep Dutta, Dorothy K. Grange, Wen‐Wen Lin +95 more

VarPPUD: Variant post prioritization developed for undiagnosed genetic disorders

medRxiv(2024)10.1101/2024.04.15.24305876

N/A

0DataRank · unranked

0 citations

Alba Gutiérrez‐Sacristán, Undiagnosed Diseases Network, Shilpa N. Kobren, Paul Avillach, Rui Yin

Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseases

npj Digital Medicine(2025)10.1038/s41746-025-01749-1

N/A

0DataRank · unranked

28 citations

Michelle M. Li, Shilpa N. Kobren, Ayush Noori, Undiagnosed Diseases Network, Isaac S. Kohane +2 more

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

Genome Medicine(2025)10.1186/s13073-025-01546-1

N/A

0DataRank · unranked

8 citations

Shruti Marwaha, Alistair Ward, Shilpa N. Kobren, Jennefer N. Carter, Undiagnosed Diseases Network +94 more

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

medRxiv(2025)10.1101/2025.04.18.25326061

N/A

0DataRank · unranked

2 citations

Shruti Marwaha, Alistair Ward, Shilpa N. Kobren, Jennefer N. Carter, Undiagnosed Diseases Network +3 more

PertInInt: An Integrative, Analytical Approach to Rapidly Uncover Cancer Driver Genes with Perturbed Interactions and Functionalities

Cell Systems(2020)10.1016/j.cels.2020.06.005

N/A

0DataRank · unranked

9 citations

Bernard Chazelle, Mona Singh, Shilpa N. Kobren

VarPPUD: Pinpointing diagnostic variants from sets of prioritized, strong candidate variants

PLoS Computational Biology(2025)10.1371/journal.pcbi.1013414

N/A

0DataRank · unranked

0 citations

Alba Gutiérrez‐Sacristán, Undiagnosed Diseases Network, Shilpa N. Kobren, Paul Avillach, Rui Yin

Simulation of undiagnosed patients with novel genetic conditions

medRxiv(2022)10.1101/2022.08.22.22279073

N/A

0DataRank · unranked

0 citations

Samuel G. Finlayson, Michelle M. Li, Undiagnosed Diseases Network, Shilpa N. Kobren, Isaac S. Kohane +1 more

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

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63309

N/A

0DataRank · unranked

19 citations

Lisa Bastarache, Kimberly Ezell, Shilpa N. Kobren, Cecilia Esteves, Jill A. Rosenfeld +10 more

Polygenic risk scores for autoimmune related diseases are significantly different and skewed in cancer exceptional responders

Research Square(2023)10.21203/rs.3.rs-3476528/v1

N/A

0DataRank · unranked

0 citations

Siyuan Chen, Amelia Tan, Maria N. de Menezes, Jenny Mao, Cassandra Perry +5 more

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.02.13.580158

N/A

0DataRank · unranked

3 citations

Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia, Xinyun Li, Danielle Barnum +14 more

Phenotypic overlap between rare disease patients and variant carriers in a large population cohort informs biological mechanisms

medRxiv(2024)10.1101/2024.04.18.24305861

N/A

0DataRank · unranked

1 citations

Undiagnosed Diseases Network, Brett K. Beaulieu‐Jones, Shilpa N. Kobren, Lane Fitzsimmons