Sean V. Tavtigian

Also affiliated with Huntsman Cancer Institute

Biochemistry, Genetics and Molecular BiologyMedicine

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 3%percentile

1.3Author DataRank

Indexed papers

1in 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 1 indexed paper 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.

Pathogenic Germline Variants in Cancer Susceptibility Genes in Children and Young Adults With Rhabdomyosarcoma

JCO Precision Oncology(2021)10.1200/po.20.00218

Top 16%

1.3DataRank

Top 16%45 citations

Nicholas Light, Vallijah Subasri, Erin L. Young, Talía Wegman-Ostrosky, Donald A. Barkauskas +21 more

Papers

Driven by 25 papers — median percentile 84. Top paper: “Pathogenic Germline Variants in Cancer Susceptibility Genes in Children and Young Adults With Rhabdomyosarcoma”.

Pathogenic Germline Variants in Cancer Susceptibility Genes in Children and Young Adults With Rhabdomyosarcoma

JCO Precision Oncology(2021)10.1200/po.20.00218

Top 16%

1.3DataRank

Top 16%45 citations

Nicholas Light, Vallijah Subasri, Erin L. Young, Talía Wegman-Ostrosky, Donald A. Barkauskas +21 more

Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel

Genetics in Medicine(2023)10.1016/j.gim.2023.100992

N/A

1.0DataRank · unranked

33 citations

Xiaoyu Yin, Marcy E. Richardson, Marta Pineda, Andreas Laner, Deborah Ritter +27 more

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.08.022

N/A

0.434DataRank · unranked

17 citations

Megan Holdren, Terra Brannan, Miguel de la Hoya, Amanda B. Spurdle, Sean V. Tavtigian +16 more

Mobile element insertions and associated structural variants in longitudinal breast cancer samples

Scientific Reports(2021)10.1038/s41598-021-92444-0

N/A

0DataRank · unranked

9 citations

Kristi Russell, Julie Feusier, 義行高橋, Sean V. Tavtigian, Gábor Marth +2 more

A calibrated cell-based functional assay to aide classification of MLH1 DNA mismatch repair gene variants

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.12.14.472580

N/A

0DataRank · unranked

0 citations

Alexander A. Radecki, Kaussar Rahman, Rachel B. Gilmore, Jonathan R. Hudson, Matthew Cenci +4 more

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.10.013

N/A

0DataRank · unranked

548 citations

Alicia B. Byrne, Bing Feng, Kymberleigh A. Pagel, Sean D. Mooney, Rachel Karchin +20 more

Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.05.004

N/A

0DataRank · unranked

20 citations

Andrew Paquette, Kayoko Tao, Russell Bell, Julie L. Boyle, Judith Rosenthal +12 more

A calibrated cell‐based functional assay to aid classification of MLH1 DNA mismatch repair gene variants

Human Mutation(2022)10.1002/humu.24462

N/A

0DataRank · unranked

14 citations

Alexander A. Radecki, Kaussar Rahman, Rachel B. Gilmore, Jonathan R. Hudson, Matthew Cenci +4 more

Evidence-based calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for clinical use of PP3/BP4 criteria

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.03.17.484479

N/A

0DataRank · unranked

34 citations

Alicia B. Byrne, Bing Feng, Kymberleigh A. Pagel, Sean D. Mooney, Rachel Karchin +9 more

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.002

N/A

0DataRank · unranked

315 citations

Miguel de la Hoya, George A. R. Wiggins, Amanda Lindy, Lisa M. Vincent, Michael T. Parsons +28 more

ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.11.009

N/A

0DataRank · unranked

87 citations

Alicia B. Byrne, Steven M Harrison, Tina Pesaran, Alejandro A. Schäffer, Brian H. Shirts +3 more

Racial/ethnic differences of germline pathogenic variants in cancer susceptibility genes among patients with early-onset colorectal cancer.

Journal of Clinical Oncology(2023)10.1200/jco.2023.41.4_suppl.19

N/A

0DataRank · unranked

0 citations

Hannah M. Seagle, Samantha Keller, Sean V. Tavtigian, David E. Goldgar, Carolyn Horton +1 more

Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.09.002

N/A

0DataRank · unranked

15 citations

Marcy E. Richardson, Andreas Laner, Xuemei Shi, Elisabet Ognedal, Valeria Vasta +27 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

0DataRank · unranked

16 citations

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

Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines

Human Molecular Genetics(2024)10.1093/hmg/ddae009

N/A

0DataRank · unranked

7 citations

Kyriaki Michailidou, Michael T. Parsons, Jill S. Dolinsky, Tina Pesaran, Amal Yussuf +11 more

Identification of Individuals With Hereditary Cancer Risk Through Multiple Data Sources: A Population-Based Method Using the GARDE Platform and The Utah Population Database

JCO Clinical Cancer Informatics(2024)10.1200/cci-24-00142

N/A

0DataRank · unranked

3 citations

Michael J. Madsen, Richard L. Bradshaw, Michael Newman, Kimberly A. Kaphingst, Sean V. Tavtigian +2 more

Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal Cancer

Cancer Research Communications(2024)10.1158/2767-9764.crc-24-0368

N/A

0DataRank · unranked

2 citations

Sean V. Tavtigian, Carolyn Horton, Andreana N. Holowatyj, Rachel A. Francis

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

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants

medRxiv(2024)10.1101/2024.05.28.24307502

N/A

0DataRank · unranked

2 citations

Megan Holdren, Terra Brannan, Miguel de la Hoya, Amanda B. Spurdle, Sean V. Tavtigian +16 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

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.08.020

N/A

0DataRank · unranked

4 citations

Megan F.H. Bishop, Megan Holdren, Miguel de la Hoya, Amanda B. Spurdle, Sean V. Tavtigian +15 more

Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines

Human Mutation(2020)10.1002/humu.24088

N/A

0DataRank · unranked

343 citations

Steven M. Harrison, Kenneth M. Boucher, Leslie G. Biesecker, Sean V. Tavtigian

Exome Sequencing for Head and Neck Cancer Predisposition Genes

medRxiv(2025)10.1101/2025.01.20.25320626

N/A

0DataRank · unranked

0 citations

Bing Feng, Chun-Pin E. Chang, Russell A. Bell, Austin B. Wood, Ryan Bohlender +13 more

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation

Frontiers in Genetics(2020)10.3389/fgene.2020.00798

N/A

0DataRank · unranked

21 citations

Rhiannon Walters, Michael T. Parsons, Troy Dumenil, Mark Drost, Yvonne Tiersma +5 more

First international workshop of the ATM and cancer risk group (4-5 December 2019)

Familial Cancer(2021)10.1007/s10689-021-00248-y

N/A

0DataRank · unranked

19 citations

Douglas F. Easton, Anne‐Laure Renault, Sean V. Tavtigian, Jonine L. Bernstein, Zsofia Kote‐Jarai +51 more

Sean V. Tavtigian

Indexed papers

Top data-sharing exemplar

Papers