Sharon A. Savage

Also affiliated with National Cancer Institute, Cancer Genetics (United States), Department of Health and Human Services, Division of Cancer Epidemiology and Genetics

MedicineBiochemistry, 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 2%percentile

4.0Author 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.

The TP53 Database: transition from the International Agency for Research on Cancer to the US National Cancer Institute

Cell Death and Differentiation(2022)10.1038/s41418-022-00976-3

Top 6%

4.0DataRank

Top 6%167 citations

Elaine E. Lee, Elise M. Tookmanian, Chimene Kesserwan, James J. Manfredi, Jessica N. Hatton +12 more

Papers

Driven by 60 papers — median percentile 94. Top paper: “Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis”.

Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis

Human Mutation(2018)10.1002/humu.23673

N/A

4.7DataRank · unranked

96 citations

Megan N. Frone, Payal P. Khincha, Jung Kim, Amina Amadou, Fernanda P. Fortes +12 more

The TP53 Database: transition from the International Agency for Research on Cancer to the US National Cancer Institute

Cell Death and Differentiation(2022)10.1038/s41418-022-00976-3

Top 6%

4.0DataRank

Top 6%167 citations

Elaine E. Lee, Elise M. Tookmanian, Chimene Kesserwan, James J. Manfredi, Jessica N. Hatton +12 more

Disease progression and clinical outcomes in telomere biology disorders

Blood(2021)10.1182/blood.2021013523

N/A

2.2DataRank · unranked

100 citations

Neelam Giri, Lisa J. McReynolds, Rotana Alsaggaf, Sonia Bhala, Blanche P. Alter +2 more

Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features

Pediatric Research(2022)10.1038/s41390-022-02009-8

N/A

1.4DataRank · unranked

37 citations

Neelam Giri, D. Matthew Gianferante, Kristine Jones, Sharon A. Savage, Blanche P. Alter +2 more

Fundamental immune–oncogenicity trade-offs define driver mutation fitness

Nature(2022)10.1038/s41586-022-04696-z

N/A

0.663DataRank · unranked

82 citations

Roberta Zappasodi, Isabell Schulze, Zachary Sethna, Kelvin C. de Andrade, Dean F. Bajorin +25 more

Clonal landscape and clinical outcomes of telomere biology disorders: somatic rescue and cancer mutations

Blood(2024)10.1182/blood.2024025023

N/A

0.557DataRank · unranked

40 citations

Emma M. Groarke, Natthakan Thongon, Juan José Rodríguez‐Sevilla, Luiz Fernando Bazzo Catto, Marena R. Niewisch +37 more

Genome-wide Association Study Identifies HLA-DPB1 as a Significant Risk Factor for Severe Aplastic Anemia

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.01.004

N/A

0.529DataRank · unranked

33 citations

Mathias Viard, Colm Ó’hUigín, Weiyin Zhou, Meredith Yeager, Shengchao Alfred Li +27 more

Pathogenic germline IKZF1 variant alters hematopoietic gene expression profiles

Molecular Case Studies(2021)10.1101/mcs.a006015

N/A

0.482DataRank · unranked

7 citations

Payal P. Khincha, Neelam Giri, Aaron J. Bouk, Mia Steinberg, Jieqiong Dai +10 more

Buildup from birth onward of short telomeres in human hematopoietic cells

Aging Cell(2023)10.1111/acel.13844

N/A

0.475DataRank · unranked

16 citations

Simon Verhulst, Sharon A. Savage, Shahinaz M. Gadalla, Athanase Bénétos, Simon Toupance +4 more

The distribution and accumulation of the shortest telomeres in telomere biology disorders

British Journal of Haematology(2023)10.1111/bjh.18945

N/A

0.460DataRank · unranked

10 citations

Tsung‐Po Lai, Marena R. Niewisch, Neelam Giri, Youjin Wang, Stephen R. Spellman +4 more

Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants

Human Genetics and Genomics Advances(2023)10.1016/j.xhgg.2023.100242

N/A

0.449DataRank · unranked

19 citations

Natasha T. Strande, Jung Kim, Jeremy S. Haley, Jessica N. Hatton, Megan N. Frone +13 more

Genetic regulation of TERT splicing affects cancer risk by altering cellular longevity and replicative potential

Nature Communications(2025)10.1038/s41467-025-56947-y

N/A

0.416DataRank · unranked

15 citations

Michelle Ho, Maxwell H. Hogshead, Brenen W. Papenberg, Chia‐Han Lee, Kaitlin Forsythe +18 more

Germline-somatic JAK2 interactions are associated with clonal expansion in myelofibrosis

Nature Communications(2022)10.1038/s41467-022-32986-7

N/A

0.396DataRank · unranked

13 citations

Weiyin Zhou, Youjin Wang, Kristine Jones, Wen Luo, Casey Dagnall +26 more

Genetically inferred birthweight, height, and puberty timing and risk of osteosarcoma

Cancer Epidemiology(2023)10.1016/j.canep.2023.102432

N/A

0.386DataRank · unranked

7 citations

Amy Moore, Logan G. Spector, William Wheeler, Tianzhong Yang, Aubrey K. Hubbard +27 more

“Crying in the Wilderness”—The Use of Web-Based Support in Telomere Biology Disorders: Thematic Analysis

JMIR Formative Research(2024)10.2196/64343

N/A

0.187DataRank · unranked

2 citations

Alina Majid, Toniya Brown, Rowan Forbes Shepherd, Camella J. Rising, Catherine Wilsnack +9 more

Telomere length and clonal chromosomal alterations in peripheral blood of patients with severe aplastic anaemia

British Journal of Haematology(2024)10.1111/bjh.19681

N/A

0.104DataRank · unranked

1 citations

Derek W. Brown, Weiyin Zhou, Casey Dagnall, Jian‐Min Yuan, Annie Im +6 more

Genetic regulation of OAS1 nonsense-mediated decay underlies association with risk of severe COVID-19

medRxiv(2021)10.1101/2021.07.09.21260221

N/A

0DataRank · unranked

13 citations

Megan L. Stanifer, Oscar Flórez-Vargas, Olusegun O. Onabajo, Muhammad Atif Zahoor, Brenen W. Papenberg +49 more

Genetic regulation of OAS1 nonsense-mediated decay underlies association with COVID-19 hospitalization in patients of European and African ancestries

Nature Genetics(2022)10.1038/s41588-022-01113-z

N/A

0DataRank · unranked

140 citations

Megan L. Stanifer, Oscar Flórez-Vargas, Olusegun O. Onabajo, Brenen W. Papenberg, Muhammad Atif Zahoor +65 more

Differential diagnosis of bone marrow failure syndromes guided by machine learning

Blood(2022)10.1182/blood.2022017518

N/A

0DataRank · unranked

33 citations

Eric Munger, Xiaoyang Ma, Emma M. Groarke, Youbao Tang, Bhavisha A. Patel +33 more

Spectrum and Incidence of Skin Cancer among Individuals with Li-Fraumeni Syndrome

Journal of Investigative Dermatology(2022)10.1016/j.jid.2022.02.004

N/A

0DataRank · unranked

6 citations

Michael R. Sargen, Megan N. Frone, Kelvin C. de Andrade, Sharon A. Savage, Payal P. Khincha +1 more

Next‐generation sequencing errors due to genetic variation in WRAP53 encoding TCAB1 on chromosome 17

Human Mutation(2022)10.1002/humu.24469

N/A

0DataRank · unranked

1 citations

Kristine Jones, Kedest Teshome, Adriana Lori, Lisa J. McReynolds, Marena R. Niewisch +1 more

Progression of liver disease and portal hypertension in dyskeratosis congenita and related telomere biology disorders

Hepatology(2023)10.1097/hep.0000000000000461

N/A

0DataRank · unranked

17 citations

Marena R. Niewisch, Sonia Bhala, Pujitha Kudaravalli, Farial Naima Rahman, Julian Hercun +6 more

Spectrum and Excess Risk of Gastrointestinal Tumors in Li-Fraumeni Syndrome

Clinical Gastroenterology and Hepatology(2023)10.1016/j.cgh.2023.08.028

N/A

0DataRank · unranked

9 citations

Kelvin C. de Andrade, Megan N. Frone, Sharon A. Savage, Payal P. Khincha, Jessica N. Hatton

Inflated expectations: Rare-variant association analysis using public controls

PLoS ONE(2023)10.1371/journal.pone.0280951

N/A

0DataRank · unranked

9 citations

Danielle M. Karyadi, Stephen W. Hartley, Bin Zhu, Mingyi Wang, Dongjing Wu +15 more

Pilot study of the prevalence of autoimmune disorders in Li-Fraumeni syndrome

Familial Cancer(2023)10.1007/s10689-022-00326-9

N/A

0DataRank · unranked

1 citations

Kelvin C. de Andrade, Renée C. Bremer, Payal P. Khincha, Sharon A. Savage, Ixtaccihuatl H. Obregón

What is the future of telomere length testing in telomere biology disorders?

Expert Review of Hematology(2023)10.1080/17474086.2023.2215423

N/A

0DataRank · unranked

11 citations

Sharon A. Savage, Sonia Bhala

Digital telomere measurement by long-read sequencing distinguishes healthy aging from disease

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.11.29.569263

N/A

0DataRank · unranked

4 citations

Jessica Gu, Anudeep Golla, A. M. Martin, William Shomali, Dirk Hockemeyer +3 more

Digital telomere measurement by long-read sequencing distinguishes healthy aging from disease

Nature Communications(2024)10.1038/s41467-024-49007-4

N/A

0DataRank · unranked

44 citations

Yuchao Gu, Yan Wang, Anudeep Golla, Annika Martin, William Shomali +4 more

Update on Recommendations for Cancer Screening and Surveillance in Children with Genomic Instability Disorders

Clinical Cancer Research(2024)10.1158/1078-0432.ccr-24-1098

N/A

0DataRank · unranked

23 citations

Roland P. Kuiper, Kim E. Nichols, Christopher C. Porter, Harry Lesmana, Julia Meade +13 more

Pediatric Cancer Screening in Hereditary Gastrointestinal Cancer Risk Syndromes: An Update from the AACR Childhood Cancer Predisposition Working Group

Clinical Cancer Research(2024)10.1158/1078-0432.ccr-24-0953

N/A

0DataRank · unranked

18 citations

Kerri Becktell, Kami Wolfe Schneider, Roland P. Kuiper, Harry Lesmana, Julia Meade +14 more

Different phenotypes with different endings—Telomere biology disorders and cancer predisposition with long telomeres

British Journal of Haematology(2024)10.1111/bjh.19851

N/A

0DataRank · unranked

14 citations

Alison A. Bertuch, Sharon A. Savage

Update on Recommendations for Surveillance for Children with Predisposition to Hematopoietic Malignancy

Clinical Cancer Research(2024)10.1158/1078-0432.ccr-24-0685

N/A

0DataRank · unranked

20 citations

Marcin W. Włodarski, Sun Young Kim, Alison A. Bertuch, Gaëlle Bougeard, Vivian Y. Chang +15 more

Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder

European Journal of Human Genetics(2024)10.1038/s41431-024-01722-8

N/A

0DataRank · unranked

11 citations

Maria Pettersson, Pattra Chun‐on, Maryam Rafati, Lisa J. McReynolds, Anna Norberg +13 more

Defining the complex needs of families with rare diseases—the example of telomere biology disorders

European Journal of Human Genetics(2024)10.1038/s41431-024-01697-6

N/A

0DataRank · unranked

5 citations

Camella J. Rising, Emily Pearce, Rowan Forbes Shepherd, Ashley S. Thompson, Alina Majid +4 more

A “rotating menu” of medical uncertainty for families affected by telomere biology disorders: A qualitative interview study

SSM - Qualitative Research in Health(2024)10.1016/j.ssmqr.2024.100486

N/A

0DataRank · unranked

3 citations

Alina Majid, Toniya Brown, Catherine Wilsnack, Camella J. Rising, Ashley S. Thompson +9 more

Hemophagocytic Lymphohistiocytosis Gene Variants in Severe Aplastic Anemia and Their Impact on Hematopoietic Cell Transplantation Outcomes

Transplantation and Cellular Therapy(2024)10.1016/j.jtct.2024.05.017

N/A

0DataRank · unranked

2 citations

Lisa J. McReynolds, Youjin Wang, Belynda Hicks, Kristine Jones, Stephen R. Spellman +8 more

Reduced anti-Müllerian hormone levels in males with inherited bone marrow failure syndromes

Endocrine Connections(2024)10.1530/ec-23-0510

N/A

0DataRank · unranked

1 citations

Neelam Giri, Sonia Bhala, Martha M. Sklavos, Blanche P. Alter, Sharon A. Savage +2 more

A “rotating menu” of medical uncertainty for families affected by telomere biology disorders: A qualitative interview study

UNC Libraries(2024)10.17615/ttjd-s035

N/A

0DataRank · unranked

0 citations

Alina Majid, Emily Pearce, Melissa B. Gilkey, Rowan Forbes Shepherd, Ashley S. Thompson +9 more

Polygenic modifiers impact penetrance and expressivity in telomere biology disorders

Journal of Clinical Investigation(2025)10.1172/jci191107

N/A

0DataRank · unranked

9 citations

Uma P. Arora, Amanda J. Walne, Lisa J. McReynolds, Marena R. Niewisch, Neelam Giri +7 more

A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome

Genome Medicine(2025)10.1186/s13073-025-01536-3

N/A

0DataRank · unranked

5 citations

Megan N. Frone, Jessica L. Mester, Miguel de la Hoya, Phuong L. Mai, Tina Pesaran +32 more

Peripheral blood DNA methylation predicts the early onset of primary tumor in TP53 mutation carriers

Nature Communications(2025)10.1038/s41467-025-62894-5

N/A

0DataRank · unranked

2 citations

Benjamin Brew, Brianne Laverty, Lauren Erdman, Tanya Guha, Jordan R. Hansford +20 more

Germline PARN Variants in Telomere Biology Disorders and Challenges in Variant Curation

Molecular Genetics & Genomic Medicine(2025)10.1002/mgg3.70107

N/A

0DataRank · unranked

1 citations

Mone't B. Thompson, Kelvin C. de Andrade, Ashley S. Thompson, Lisa J. McReynolds, Marena R. Niewisch +2 more

Detailed assessment of rare and common TERT variation in a family with a telomere biology disorder

Human Genetics and Genomics Advances(2025)10.1016/j.xhgg.2025.100536

N/A

0DataRank · unranked

1 citations

Oscar Flórez-Vargas, Burak Altintas, Marena R. Niewisch, Weiyin Zhou, Neelam Giri +13 more

Solid malignancies in telomere biology disorders

Seminars in Hematology(2025)10.1053/j.seminhematol.2026.03.004

N/A

0DataRank · unranked

1 citations

Sharon A. Savage

Germline Pathogenic Variants in MUTYH Are Associated With Inferior Survival After Hematopoietic Cell Transplantation in Patients With Hematologic Malignancies or Disorders

American Journal of Hematology(2025)10.1002/ajh.70093

N/A

0DataRank · unranked

0 citations

Youjin Wang, Ashwin Koppayi, Sharon A. Savage, Lucy A. Godley, Kirsten M. Williams +15 more

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants

Human Mutation(2020)10.1002/humu.24152

N/A

0DataRank · unranked

166 citations

Kristy Lee, Magali Olivier, Tina Pesaran, Phuong L. Mai, Kelvin C. de Andrade +19 more

Advancing RAS/RASopathy therapies: An NCI‐sponsored intramural and extramural collaboration for the study of RASopathies

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61485

N/A

0DataRank · unranked

63 citations

Megan N. Frone, Karen W. Gripp, Bruce D. Gelb, Lisa Schoyer, Lisa Schill +17 more

Genetically predicted telomere length is associated with clonal somatic copy number alterations in peripheral leukocytes

PLoS Genetics(2020)10.1371/journal.pgen.1009078

N/A

0DataRank · unranked

22 citations

Shu‐Hong Lin, Po‐Ru Loh, Stephen J. Chanock, Sharon A. Savage, Mitchell J. Machiela +1 more

Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines

Human Mutation(2020)10.1002/humu.24060

N/A

0DataRank · unranked

23 citations

Jessica L. Mester, Tina Pesaran, Jeffrey N. Weitzel, Jill S. Dolinsky, Amal Yussuf +13 more

Population Frequency of Fanconi Pathway Gene Variants and Their Association with Survival After Hematopoietic Cell Transplantation for Severe Aplastic Anemia

Biology of Blood and Marrow Transplantation(2020)10.1016/j.bbmt.2020.01.011

N/A

0DataRank · unranked

10 citations

Youjin Wang, Ashley S. Thompson, Bari J. Ballew, Jung Kim, Blanche P. Alter +9 more

Association between coffee drinking and telomere length in the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial

PLoS ONE(2020)10.1371/journal.pone.0226972

N/A

0DataRank · unranked

10 citations

Leah M. Ferrucci, Lisa Mirabello, Qing Lan, Wei Hu, Linda M. Liao +8 more

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants

medRxiv(2020)10.1101/2020.04.25.20078931

N/A

0DataRank · unranked

5 citations

Kristy Lee, Magali Olivier, Tina Pesaran, Phuong L. Mai, Kelvin C. de Andrade +18 more

A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome

Genome Research(2020)10.1101/gr.249599.119

N/A

0DataRank · unranked

3 citations

Xuedong Pan, Elissa B. Dodd-Eaton, Carlos Vera Recio, Matthew D. Montierth, Jasmina Bojadzieva +10 more

Alternative splicing is a developmental switch for hTERT expression

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.04.02.022087

N/A

0DataRank · unranked

2 citations

Andrew Bazley, Michael Shen, Jef D. Boeke, Sharon A. Savage, Agnel Sfeir +1 more

A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.02.10.942409

N/A

0DataRank · unranked

1 citations

Xuedong Pan, Elissa B. Dodd-Eaton, Carlos Vera Recio, Matthew D. Montierth, Jasmina Bojadzieva +10 more

RTEL1 influences the abundance and localization of TERRA RNA

Nature Communications(2021)10.1038/s41467-021-23299-2

N/A

0DataRank · unranked

54 citations

Aitor Garzia, Hexiao Wang, Claudia Canasto‐Chibuque, Marcel Hohl, Sharon A. Savage +3 more

DNA-methylation-based telomere length estimator: comparisons with measurements from flow FISH and qPCR

Aging(2021)10.18632/aging.203126

N/A

0DataRank · unranked

36 citations

Steve Horvath, Shilpa Katta, Casey Dagnall, Geraldine Aubert, Belynda Hicks +6 more

Uptake and timing of bilateral and contralateral risk-reducing mastectomy in women with Li–Fraumeni syndrome

Breast Cancer Research and Treatment(2021)10.1007/s10549-021-06410-5

N/A

0DataRank · unranked

17 citations

Renée C. Bremer, William M. P. Klein, Sharon A. Savage, Jennifer T. Loud, Payal P. Khincha +1 more

Utility of interim blood tests for cancer screening in Li-Fraumeni syndrome

Familial Cancer(2021)10.1007/s10689-021-00265-x

N/A

0DataRank · unranked

3 citations

Ana F. Best, Phuong L. Mai, Maria Isabel Achatz, Paul S. Albert, Sharon A. Savage +2 more

Gynaecological and reproductive health of women with telomere biology disorders

British Journal of Haematology(2021)10.1111/bjh.17545

N/A

0DataRank · unranked

8 citations

Blanche P. Alter, Sharon A. Savage, Pamela Stratton, Neelam Giri

Sharon A. Savage

Indexed papers

Top data-sharing exemplar

Papers