Jonathan S. Berg

University of North Carolina at Chapel Hill

Also affiliated with University of North Carolina Health Care

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 2%percentile

3.4Author DataRank

Indexed papers

7in 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 7 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.

A Millennial Myosin Census

UNC Libraries(2020)10.17615/r3hv-3p64

Top 14%

1.5DataRank

Top 14%21 citations

Richard E. Cheney, Jonathan S. Berg, B. C. Powell

Papers

Driven by 63 papers — median percentile 44. Top paper: “Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria”.

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

9.9DataRank · unranked

560 citations

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

6.1DataRank · unranked

324 citations

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

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

Genome Medicine(2022)10.1186/s13073-021-01004-8

N/A

2.6DataRank · unranked

85 citations

Matt W. Wright, Rao Madhavrao, Steven M. Harrison, Jennifer L Goldstein, Xi Luo +30 more

A Millennial Myosin Census

UNC Libraries(2020)10.17615/r3hv-3p64

Top 14%

1.5DataRank

Top 14%21 citations

Richard E. Cheney, Jonathan S. Berg, B. C. Powell

The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation

Genetics in Medicine(2024)10.1016/j.gim.2024.101228

Top 17%

1.2DataRank

Top 17%59 citations

Danielle R. Azzariti, Larry Babb, Jonathan S. Berg, Leslie G. Biesecker, Zo Bly +28 more

Myosin-X is an unconventional myosin that undergoes intrafilopodial motility

Nature Cell Biology(2002)10.1038/ncb762

N/A

0.891DataRank · unranked

378 citations

Richard E. Cheney, Jonathan S. Berg

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

0.590DataRank · unranked

50 citations

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

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

medRxiv(2022)10.1101/2022.01.03.21268593

Top 34%

0.575DataRank

Top 34%17 citations

Scott Goehringer, Lawrence Babb, Fowzan S. Alkuraya, Joanna Amberger, Mutaz Amin +41 more

Generating Clinical-Grade Gene–Disease Validity Classifications Through the ClinGen Data Platforms

Annual Review of Biomedical Data Science(2024)10.1146/annurev-biodatasci-102423-112456

N/A

0.502DataRank · unranked

16 citations

Courtney L Thaxton, Tristan H Nelson, Marina T. DiStefano, Juliann M. Savatt, Matthew Brush +25 more

Implementation of a dyadic nomenclature for monogenic diseases

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.07.019

N/A

0.477DataRank · unranked

23 citations

Leslie G. Biesecker, Marina T. DiStefano, Melissa A Haendel, Ada Hamosh, Emma Owens +4 more

A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation

Genetics in Medicine(2024)10.1016/j.gim.2024.101290

N/A

0.442DataRank · unranked

18 citations

Laura V. Milko, Elizabeth Jalazo, Blythe G. Crissman, Ann Katherine M. Foreman, Bradford C. Powell +18 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

Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms

Genetics in Medicine(2023)10.1016/j.gim.2023.101029

N/A

0.434DataRank · unranked

17 citations

Marina T. DiStefano, Erin Rooney Riggs, Katherine Josephs, Fowzan S. Alkuraya, Joanna Amberger +21 more

Mondo: integrating disease terminology across communities

Genetics(2025)10.1093/genetics/iyaf215

N/A

0.425DataRank · unranked

16 citations

Sabrina Toro, Nicolas A Matentzoglu, Joseph E Flack, Kathleen R. Mullen, Harshad Hegde +95 more

Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Sequencing (NCGENES) 2 study: a randomized controlled trial

Trials(2021)10.1186/s13063-021-05341-2

N/A

0.419DataRank · unranked

10 citations

Laura V. Milko, Margaret Waltz, Ida Griesemer, Lonna Mollison, Tracey Grant +15 more

Parent-Reported Clinical Utility of Pediatric Genomic Sequencing

PEDIATRICS(2023)10.1542/peds.2022-060318

N/A

0.416DataRank · unranked

15 citations

Bart S. Ferket, Bruce D. Gelb, Lucia A. Hindorff, Kathleen D.M. Ferar, Mary E. Norton +6 more

A systematic review of the methodological quality of economic evaluations in genetic screening and testing for monogenic disorders

Genetics in Medicine(2021)10.1016/j.gim.2021.10.008

N/A

0.330DataRank · unranked

8 citations

Katherine W. Saylor, Isabella Guynn, Karen Hicklin, Jonathan S. Berg, Kristen Hassmiller Lich +1 more

Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms

medRxiv(2023)10.1101/2023.03.30.23287948

N/A

0.312DataRank · unranked

7 citations

Marina T. DiStefano, Erin Rooney Riggs, Katherine Josephs, Fowzan S. Alkuraya, Joanna Amberger +21 more

Question prompt lists and caregiver question asking in pediatric specialty appointments: A randomized controlled trial

Patient Education and Counseling(2023)10.1016/j.pec.2022.107620

N/A

0.312DataRank · unranked

7 citations

Haoyang Yan, R. Jean Cadigan, Courtney Canter, Lizzy Bain, Jeannette T. Bensen +15 more

ClinGen Variant Curation Interface: A Variant Classification Platform for the Application of Evidence Criteria from ACMG/AMP Guidelines

medRxiv(2021)10.1101/2021.02.12.21251663

N/A

0.269DataRank · unranked

5 citations

Matt W. Wright, Rao Madhavrao, Steven M. Harrison, Jennifer L Goldstein, Xi Luo +30 more

Burden or benefit? Effects of providing education about and the option to request additional genomic findings from diagnostic exome sequencing: A randomized controlled trial

Patient Education and Counseling(2021)10.1016/j.pec.2021.04.026

N/A

0.216DataRank · unranked

3 citations

Myra I. Roche, Feng‐Chang Lin, Ann Katherine M. Foreman, Cynthia M. Khan, Ida Griesemer +7 more

Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome Resource

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2024.12.009

N/A

0.165DataRank · unranked

2 citations

Deborah Ritter, Danielle R. Azzariti, Jonathan S. Berg, Joanna E. Bulkley, Mildred K. Cho +12 more

Development and Validation of a Genomic Knowledge Scale to Advance Informed Decision-Making Research in Genomic Sequencing

UNC Libraries(2025)10.17615/220c-1e29

N/A

0.165DataRank · unranked

2 citations

Myra I. Roche, Cristina Leos, Michelle M. Langer, Cynthia M. Khan, Michelle Brown +4 more

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

medRxiv(2024)10.1101/2024.11.19.24317561

Top 78%

0.104DataRank

Top 78%1 citations

Vanessa Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg +58 more

Dnmt3a is essential for hematopoietic stem cell differentiation

UNC Libraries(2020)10.17615/nj45-sr35

N/A

0.104DataRank · unranked

1 citations

Yue Lu, Jonathan S. Berg, Jaroslav Jelı́nek, Wei Li, Yuanxin Xi +13 more

Information-seeking preferences in diverse patients receiving a genetic testing result in the Clinical Sequencing Evidence-Generating Research (CSER) study

Genetics in Medicine(2023)10.1016/j.gim.2023.100899

N/A

0DataRank · unranked

0 citations

Hannah Prasad, Simon Outram, Sarah Scollon, Shannon Rego, Tiffany Yip +10 more

Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Sequencing (NCGENES) 2 study: a randomized controlled trial

UNC Libraries(2023)10.17615/41hv-ah02

N/A

0DataRank · unranked

0 citations

A.K.M. Foreman, Brooke S. Staley, Jeannette T. Bensen, Lindsay Mollison, Jonathan S. Berg +15 more

Testing and extending strategies for identifying genetic disease–related encounters in pediatric patients

UNC Libraries(2023)10.17615/tgj0-4d30

N/A

0DataRank · unranked

0 citations

Jonathan S. Berg, B.C. Powell, Karen Hicklin, Marissa Adams, L.P. Spees +4 more

The Burden of COVID-19 on Caregivers of Children with Suspected Genetic Conditions: A Therapeutic Odyssey

UNC Libraries(2023)10.17615/znkm-v920

N/A

0DataRank · unranked

0 citations

Kristen Hassmiller Lich, R. Jean Cadigan, Jeannette T. Bensen, Adriana Navas, Margaret Waltz +8 more

Community Collaboration in Public Health Genetic Literacy: Methods for Co-Designing Educational Resources for Equitable Genomics Research and Practice

Public Health Genomics(2024)10.1159/000543227

N/A

0DataRank · unranked

1 citations

Grace Byfield, Sabrina N. Powell, Daniel F. Torres, Grace Leon-Lozano, Jahnelle Jackson +20 more

hCALCRL mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia

UNC Libraries(2024)10.17615/yb9e-9f08

N/A

0DataRank · unranked

2 citations

Daniel O. Kechele, Harvey J. Kliman, Kathleen M. Caron, Joshua C. Snyder, Natalie R. Nielsen +7 more

Question prompt lists and caregiver question asking in pediatric specialty appointments: A randomized controlled trial

UNC Libraries(2024)10.17615/tpm5-8x49

N/A

0DataRank · unranked

0 citations

Michael E. Mahla, Suzanne C. O’Neill, Feng Lin, Geoffrey L. Smith, B. F. Leach +15 more

A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation

UNC Libraries(2024)10.17615/70cp-4332

N/A

0DataRank · unranked

0 citations

Beth Lincoln Boyea, Katerina S. Kucera, Katherine G. Langley, Paul Kruszka, Jessica Ezzell Hunter +18 more

Lessons learned about harmonizing survey measures for the CSER consortium

Journal of Clinical and Translational Science(2020)10.1017/cts.2020.41

N/A

0DataRank · unranked

34 citations

Frank Angelo, Sara Ackerman, Jonathan S. Berg, Barbara B. Biesecker, Maria I. Danila +18 more

Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing

Genetics in Medicine(2025)10.1016/j.gim.2025.101618

N/A

0DataRank · unranked

4 citations

Julie Yeo, Thomas Minten, Rose Heald, Derek Ansel, Mei Baker +89 more

How people undergoing genomic sequencing interpret and react to varied secondary findings with limited actionability

Personalized Medicine(2025)10.1080/17410541.2025.2476392

N/A

0DataRank · unranked

0 citations

Christine Rini, Ann Katherine M. Foreman, Jonathan S. Berg, Gail E. Henderson, Kristy Lee +4 more

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships

Genetics in Medicine Open(2025)10.1016/j.gimo.2025.103429

Top 100%

0DataRank

Top 100%0 citations

Vanessa Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg +58 more

Age-Based Genomic Screening: Pediatric Providers’ Perspectives on Implementation

Public Health Genomics(2025)10.1159/000545839

N/A

0DataRank · unranked

0 citations

Ann Katherine M. Foreman, Rebecca A. Gibson, Samantha Schilling, Laura V. Milko, Rachel Phillips +11 more

Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program

Nature Medicine(2025)10.1038/s41591-025-03945-8

N/A

0DataRank · unranked

7 citations

Elizabeth Jalazo, Jonathan S. Berg, Jennifer A. Sullivan, Katerina S. Kucera, Scott M. Shone +24 more

Referencing BRCA in hereditary cancer risk discussions: In search of an anchor in a sea of uncertainty

Journal of Genetic Counseling(2020)10.1002/jgc4.1219

N/A

0DataRank · unranked

5 citations

Anya E. R. Prince, Julianne O’Daniel, Ann Katherine M. Foreman, Bradford C. Powell, Jonathan S. Berg +1 more

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications

UNC Libraries(2020)10.17615/dqyv-bh72

N/A

0DataRank · unranked

2 citations

Patricia A. Eng, M. Lance Cooper, Jonathan S. Berg, Marwan Shinawi, Weimin He +17 more

Development and validation of a measure of comprehension of genomic screening—negative results (CoG-NR)

European Journal of Human Genetics(2020)10.1038/s41431-020-0657-1

N/A

0DataRank · unranked

1 citations

Molly Ewing, Kristine J. Kuczynski, R. Jean Cadigan, Margaret Waltz, Rita M. Butterfield +5 more

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation

UNC Libraries(2020)10.17615/0tee-nv95

N/A

0DataRank · unranked

1 citations

Christa Lese Martin, Evans, James P., Meredith Weaver, Katrina A.B. Goddard, Margaret Piper +19 more

Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project

medRxiv(2020)10.1101/2020.02.26.20024679

N/A

0DataRank · unranked

10 citations

Stephanie B. Crowley, Myra I. Roche, Ann Katherine M. Foreman, Julianne O’Daniel, Bryce A. Seifert +22 more

TBCRC 018: phase II study of iniparib in combination with irinotecan to treat progressive triple negative breast cancer brain metastases

UNC Libraries(2020)10.17615/bgrr-9v25

N/A

0DataRank · unranked

0 citations

Anna Maria Storniolo, Vered Stearns, Vandana G. Abramson, Joel S. Parker, Catherine Van Poznak +19 more

ACMG clinical laboratory standards for next-generation sequencing

UNC Libraries(2020)10.17615/bgw9-dv56

N/A

0DataRank · unranked

0 citations

Heidi L. Rehm, Birgit Funke, Madhuri Hegde, Kerry K. Brown, Elaine Lyon +5 more

Nomenclature for alleles of the thiopurine methyltransferase gene

UNC Libraries(2020)10.17615/z23g-ew76

N/A

0DataRank · unranked

0 citations

John A. Duley, William E. Evans, Sally A. Coulthard, Ellen M. McDonagh, Howard L. McLeod +12 more

Newborn Sequencing in Genomic Medicine and Public Health

UNC Libraries(2020)10.17615/p3y4-3s09

N/A

0DataRank · unranked

0 citations

Stacey Pereira, Sean D. Mooney, Anastasia L. Wise, Jennifer M. Puck, Timothy W. Yu +37 more

Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between

UNC Libraries(2020)10.17615/rpzn-a165

N/A

0DataRank · unranked

0 citations

Gail P. Jarvik, Nanibaa’ A. Garrison, Wylie Burke, Jonathan S. Berg, John F. Connolly +27 more

High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting

UNC Libraries(2020)10.17615/ecy4-5d31

N/A

0DataRank · unranked

0 citations

Jonathan S. Berg, Phillips Owen, Kirk C. Wilhelmsen, Kristy Lee, Mei Lu +6 more

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

UNC Libraries(2020)10.17615/x7nz-xc34

N/A

0DataRank · unranked

0 citations

Levi A. Garraway, Elizabeth T. DeChene, Heidi L. Rehm, Matthew C. Dulik, James P. Evans +12 more

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

UNC Libraries(2020)10.17615/dtq0-px12

Top 100%

0DataRank

Top 100%0 citations

Ozge Ceyhan‐Birsoy, Bryce A. Seifert, Tam P. Sneddon, Natasha T. Strande, Erin M. Ramos +18 more

An informatics approach to analyzing the incidentalome

UNC Libraries(2020)10.17615/gqzp-k140

N/A

0DataRank · unranked

0 citations

James P. Evans, Jonathan S. Berg, Charles Schmitt, Kristy Lee, Kirk C. Wilhelmsen +3 more

ClinGen — The Clinical Genome Resource

UNC Libraries(2020)10.17615/js2g-yk58

N/A

0DataRank · unranked

0 citations

Erin M. Ramos, David H. Ledbetter, Carlos D. Bustamante, Stephen T. Sherry, Michael S. Watson +9 more

Comparative sequence analysis and tissue localization of members of the SLC6 family of transporters in adult Drosophila melanogaster

UNC Libraries(2021)10.17615/wjxz-3c42

N/A

0DataRank · unranked

6 citations

Jonathan S. Berg, Matthew S. Thimgan, Ann E. Stuart

A Systematic Review of the Methodological Quality of Economic Evaluations in Genetic Screening and Testing for Monogenic Disorders

medRxiv(2021)10.1101/2021.10.14.21265011

N/A

0DataRank · unranked

0 citations

Kate Saylor, Isabella Guynn, Karen Hicklin, Jonathan S. Berg, Kristen Hassmiller Lich +1 more

Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia

UNC Libraries(2021)10.17615/c3t0-gh30

N/A

0DataRank · unranked

0 citations

Maimoona A. Zariwala, Johnny L. Carson, Margaret Rosenfeld, Stephanie D. Davis, Margaret W. Leigh +16 more

Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation

Cell Genomics(2022)10.1016/j.xgen.2022.100131

N/A

0DataRank · unranked

56 citations

Jennifer L Goldstein, Marina T. DiStefano, Kathleen Wallace, P. Dane Witmer, Melissa A Haendel +4 more

Development and initial testing of a multi-stakeholder intervention for Lynch syndrome cascade screening: an intervention mapping approach

BMC Health Services Research(2022)10.1186/s12913-022-08732-6

N/A

0DataRank · unranked

5 citations

Swetha Srinivasan, Mary E. Grewe, Jennifer Leeman, Jonathan S. Berg, Daniel S. Reuland +2 more

Testing and extending strategies for identifying genetic disease–related encounters in pediatric patients

Genetics in Medicine(2022)10.1016/j.gim.2021.12.001

N/A

0DataRank · unranked

1 citations

Karen Hicklin, Michael C. C. Adams, Laura Farnan, Jeannette T. Bensen, Donna Gilleskie +4 more

The Burden of COVID-19 on Caregivers of Children with Suspected Genetic Conditions: A Therapeutic Odyssey

Physical & Occupational Therapy In Pediatrics(2022)10.1080/01942638.2022.2138734

N/A

0DataRank · unranked

1 citations

Courtney Canter, Jeannette T. Bensen, Jonathan S. Berg, Ann Katherine M. Foreman, Tracey Grant +8 more

Developing a multi-stakeholder intervention for Lynch syndrome cascade screening: an intervention mapping approach

Research Square(2022)10.21203/rs.3.rs-1713675/v1

N/A

0DataRank · unranked

0 citations

Swetha Srinivasan, Mary E. Grewe, Jennifer Leeman, Jonathan S. Berg, Daniel S. Reuland +2 more

Uromodulin and CKD: insight into variant pathogenicity

Kidney International(2023)10.1016/j.kint.2022.11.018

N/A

0DataRank · unranked

4 citations

Jonathan S. Berg, Nora Franceschini

Jonathan S. Berg

Indexed papers

Top data-sharing exemplar

Papers