Sarah L. Stenton

Also affiliated with Boston Children's Hospital, Harvard University, Broad Center

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 4%percentile

0.920Author DataRank

Indexed papers

3in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 3 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.06.12.593113

Top 38%

0.503DataRank

Top 38%12 citations

Moriel Singer‐Berk, Sarah L. Stenton, Julia K. Goodrich, Michael W. Wilson, Jonah Einson +6 more

Papers

Driven by 16 papers — median percentile 59. Top paper: “Genome Sequencing for Diagnosing Rare Diseases”.

Genome Sequencing for Diagnosing Rare Diseases

New England Journal of Medicine(2024)10.1056/nejmoa2314761

N/A

0.789DataRank · unranked

192 citations

Gabrielle Lemire, Eva Berger, Maha S. Zaki, Mariel Wissmann, Wathone Win +84 more

Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

Journal of Clinical Investigation(2021)10.1172/jci138267

N/A

0.756DataRank · unranked

153 citations

Natalia L. Sheremet, Claudia B. Catarino, Natalia A. Andreeva, Zahra Assouline, Piero Barboni +49 more

Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.06.12.593113

Top 38%

0.503DataRank

Top 38%12 citations

Moriel Singer‐Berk, Sarah L. Stenton, Julia K. Goodrich, Michael W. Wilson, Jonah Einson +6 more

Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations

Genetics in Medicine(2024)10.1016/j.gim.2024.101213

N/A

0.434DataRank · unranked

17 citations

Vikas Pejaver, Timothy Bergquist, Leslie G. Biesecker, Alicia B. Byrne, Emily A.W. Nadeau +21 more

Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database

Nature Communications(2025)10.1038/s41467-025-61698-x

Top 44%

0.417DataRank

Top 44%14 citations

Moriel Singer‐Berk, Sarah L. Stenton, Julia K. Goodrich, Michael W. Wilson, Jonah Einson +95 more

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

medRxiv(2024)10.1101/2024.04.07.24305438

N/A

0.360DataRank · unranked

10 citations

Ruebena Dawes, Hyung Chul Kim, Sarah L. Stenton, Susan Walker, Alicia Ljungdahl +92 more

First-tier next-generation sequencing for newborn screening: An important role for biochemical second-tier testing

Genetics in Medicine Open(2023)10.1016/j.gimo.2023.100821

N/A

0.345DataRank · unranked

9 citations

Madelynn Campagna, Anthony Philippakis, Anne H. O’Donnell-Luria, Michael H. Gelb, Sarah L. Stenton

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

medRxiv(2023)10.1101/2023.08.08.23293829

N/A

0.330DataRank · unranked

8 citations

Gabrielle Lemire, Maha S. Zaki, Mariel Wissman, Wathone Win, S. White +70 more

Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLUL

Human Genetics and Genomics Advances(2025)10.1016/j.xhgg.2025.100419

N/A

0.165DataRank · unranked

2 citations

Sarah L. Stenton, Vijay S Ganesh, Jialan Ma, Grace E. VanNoy, Lynn Pais +5 more

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

medRxiv(2024)10.1101/2024.12.22.24319370

N/A

0.104DataRank · unranked

1 citations

Kristen M. Laricchia, Nicole J. Lake, Sushma Chaluvadi, Vijay Ganesh, Stephanie DiTroia +30 more

Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.01.002

N/A

0DataRank · unranked

42 citations

Sarah L. Stenton, Seth Berger, Paolo Canigiula, Brandy McNulty, Ivo Violich +18 more

Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.09.17.611902

N/A

0DataRank · unranked

13 citations

Sarah L. Stenton, Emily A.W. Nadeau, Alicia B. Byrne, Marc S. Greenblatt, Steven M. Harrison +8 more

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

Human Genetics and Genomics Advances(2025)10.1016/j.xhgg.2025.100441

N/A

0DataRank · unranked

1 citations

Kristen M. Laricchia, Nicole J. Lake, Sushma Chaluvadi, Vijay Ganesh, Stephanie DiTroia +31 more

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

medRxiv(2021)10.1101/2021.04.01.21254633

N/A

0DataRank · unranked

33 citations

Mirjana Gušić, Robert Kopajtich, Christian Mertes, Nicholas H. Smith, Charlotte L. Alston +48 more

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Nature Genetics(2024)10.1038/s41588-023-01651-0

N/A

0DataRank · unranked

33 citations

Dan Cox, Irina Zaharieva, Valeria Di Leo, J. Sarparanta, Per Harald Jonson +80 more

Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria

Genetics in Medicine(2025)10.1016/j.gim.2025.101402

N/A

0DataRank · unranked

45 citations

Sarah L. Stenton, Emily A.W. Nadeau, Alicia B. Byrne, Marc S. Greenblatt, Steven M. Harrison +20 more

Sarah L. Stenton

Indexed papers

Top data-sharing exemplar

Papers