Author

Stuart R. Lipsitz

Brigham and Women's HospitalORCID 0000-0003-2619-1389Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alanna StrongiD· 1 shared Anna C. F. LewisiD· 1 shared Elizabeth W. KarlsoniD· 1 shared Emily MilleriD· 1 shared Emma F. PereziD· 1 shared Hana ZoukiD· 1 shared Harini SomanchiiD· 1 shared Heidi L. RehmiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alanna StrongORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJun 12, 2026

Long-term Penetrance of Disease Variants in Genes Prioritized for Genomic Newborn Screening: Evidence from Adult Biobanks

Nina B. Gold, Hana Zouk, Julie Yeo…·Robert C. Green

The paper estimates penetrance of disease variants in genes prioritized for genomic newborn screening using adult biobank data, finding higher penetrance than ICD codes suggest.

DOI 10.64898/2026.06.10.26355380

humanwhole-exome sequencing

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