Samantha Baxter

Broad Institute — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

25h-index3.9kcitations66works21.82yr avg
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Research Topics

Genomics and Rare Diseases(42), Genomic variations and chromosomal abnormalities(24), Cancer Genomics and Diagnostics(14), Cardiomyopathy and Myosin Studies(8), BRCA gene mutations in cancer(7)

Publications62 total

Unifying the communities of early-onset glycogen storage disease type IV and adult polyglucosan body disease through a genetic prevalence study of <i>GBE1</i> -related disease
2025Open Access
GREGoR: accelerating genomics for rare diseases
Nature·2025· 6 citedOpen Access
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database
Nature Communications·2025· 3 citedOpen Access
Improved allele frequencies in gnomAD through local ancestry inference
Nature Communications·2025· 5 citedOpen Access
Improved Allele Frequencies in gnomAD through Local Ancestry Inference
2024· 1 citedOpen Access
An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration
Orphanet Journal of Rare Diseases·2024· 8 citedOpen Access
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing
Genetics in Medicine·2024· 8 citedOpen Access
Genome Sequencing for Diagnosing Rare Diseases
New England Journal of Medicine·2024· 149 citedOpen Access
The landscape of regional missense mutational intolerance quantified from 125,748 exomes
2024· 10 citedOpen Access
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
The American Journal of Human Genetics·2024· 18 citedOpen Access
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing
2024· 3 citedOpen Access
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes
Nature·2024· 157 citedOpen Access
O43: Analysis of &gt;800,000 diverse sequenced humans in gnomAD improves clinical interpretation and provides insight into gene function
Genetics in Medicine Open·2024Open Access
P575: The Rare Genomes Project: Improving access to genomic sequencing and identifying causes of rare disease*
Genetics in Medicine Open·2024Open Access
P170: An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration
Genetics in Medicine Open·2024· 1 citedOpen Access
P713: Estimating the prevalence of de novo monogenic disorders from gnomAD database
Genetics in Medicine Open·2024Open Access
O11: An atlas of 1.2M structural variants across global populations in the Genome Aggregation Database (gnomAD)
Genetics in Medicine Open·2024Open Access
An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration
2023· 1 citedOpen Access
A genomic mutational constraint map using variation in 76,156 human genomes
Nature·2023· 1.1k citedOpen Access
Inferring compound heterozygosity from large-scale exome sequencing data
Nature Genetics·2023· 30 citedOpen Access
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Frequent Co-authors

Heidi L. Rehm(28), Anne O’Donnell‐Luria(22), Daniel G. MacArthur(16), Harrison Brand(14), Katherine R. Chao(13), Eleina England(13), Moriel Singer‐Berk(13), Stephanie DiTroia(11), Julia K. Goodrich(10), Wendy K. Chung(10), Emily Evangelista(10), Christina Austin‐Tse(10), Nicholas A. Watts(9), Michael E. Talkowski(9), Lawrence Babb(9), Michael W. Wilson(8), Kiran Garimella(8), Jessica X. Chong(8), Michael J. Bamshad(8), Lynn Pais(8)