Heidi L. Rehm

Also affiliated with Massachusetts General Hospital

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 1%percentile

30.8Author DataRank

Indexed papers

21in 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 21 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.

Genomic data in the All of Us Research Program

Nature(2024)10.1038/s41586-023-06957-x

Top 2%

8.6DataRank

Top 2%772 citations

Alexander G. Bick, Ginger Metcalf, Kelsey Mayo, Lee Lichtenstein, Shimon Rura +91 more

Papers

Driven by 113 papers — median percentile 73. Top paper: “A brief history of human disease genetics”.

A brief history of human disease genetics

Nature(2020)10.1038/s41586-019-1879-7

N/A

9.2DataRank · unranked

738 citations

Judy H. Cho, Rory Collins, Nancy J. Cox, Emmanouil T. Dermitzakis, Matthew E. Hurles +13 more

Genomic data in the All of Us Research Program

Nature(2024)10.1038/s41586-023-06957-x

Top 2%

8.6DataRank

Top 2%772 citations

Alexander G. Bick, Ginger Metcalf, Kelsey Mayo, Lee Lichtenstein, Shimon Rura +91 more

Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence

PLoS Genetics(2011)10.1371/journal.pgen.1002280

N/A

7.5DataRank · unranked

148 citations

Rong Chen, Sergio P. Cordero, Kelly E. Ormond, Colleen Caleshu, Konrad J. Karczewski +33 more

GA4GH: International policies and standards for data sharing across genomic research and healthcare

Cell Genomics(2021)10.1016/j.xgen.2021.100029

N/A

6.0DataRank · unranked

306 citations

Angela Page, Lindsay Smith, Jeremy Adams, Gil Alterovitz, Lawrence Babb +95 more

Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations

Nature Medicine(2024)10.1038/s41591-024-02796-z

N/A

4.8DataRank · unranked

196 citations

Leah C. Kottyan, Christopher Kachulis, Noura S. Abul‐Husn, Joshua Arias, Gillian M. Belbin +73 more

Mitochondrial DNA variation across 56,434 individuals in gnomAD

Genome Research(2022)10.1101/gr.276013.121

Top 6%

3.6DataRank

Top 6%156 citations

Nicole J. Lake, Nicholas A. Watts, Megan Shand, Andrea Haessly, Laura D. Gauthier +12 more

FAVOR: functional annotation of variants online resource and annotator for variation across the human genome

Nucleic Acids Research(2022)10.1093/nar/gkac966

Top 8%

2.7DataRank

Top 8%143 citations

Theodore Arapoglou, Xihao Li, Zilin Li, Xiuwen Zheng, Jill E. Moore +20 more

Mondo: Unifying diseases for the world, by the world

medRxiv(2022)10.1101/2022.04.13.22273750

Top 8%

2.7DataRank

Top 8%104 citations

Nicolas A Matentzoglu, Sabrina Toro, Joseph E Flack, Harshad Hegde, Deepak R Unni +83 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 harmonized public resource of deeply sequenced diverse human genomes

Genome Research(2024)10.1101/gr.278378.123

Top 8%

2.6DataRank

Top 8%130 citations

Mary T. Yohannes, Lethukuthula L. Nkambule, Xuefang Zhao, Julia K. Goodrich, Heesu Ally Kim +16 more

Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.10.005

Top 11%

1.9DataRank

Top 11%73 citations

Nidhi Shah, Kalotina Machini, Emma Perez, Kurt D. Christensen, Hana Zouk +15 more

A harmonized public resource of deeply sequenced diverse human genomes

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.01.23.525248

Top 13%

1.6DataRank

Top 13%48 citations

Mary T. Yohannes, Lethukuthula L. Nkambule, Xuefang Zhao, Julia K. Goodrich, Heesu Ally Kim +16 more

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Genetics in Medicine(2015)10.1038/gim.2015.30

N/A

1.6DataRank · unranked

31510 citations

Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie M. Gastier-Foster +10 more

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

JAK inhibition in a patient with a STAT1 gain-of-function variant reveals STAT1 dysregulation as a common feature of aplastic anemia

Med(2022)10.1016/j.medj.2021.12.003

N/A

1.1DataRank · unranked

24 citations

Joshua M. Peters, Travis Hughes, Caleb A. Lareau, Leif S. Ludwig, Lucas R. Massoth +12 more

Genetic testing in early-onset atrial fibrillation

European Heart Journal(2024)10.1093/eurheartj/ehae298

N/A

1.1DataRank · unranked

39 citations

Sean J. Jurgens, Joel Rämö, Ingrid E. Christophersen, Michiel Rienstra, Mina K. Chung +14 more

TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling

Frontiers in Genetics(2021)10.3389/fgene.2021.780874

Top 19%

1.0DataRank

Top 19%23 citations

Andrew R. Grant, Varun Sagi, Heidi L. Rehm, Konstantina M. Stanković, In Seok Moon

Lack Of Diversity In Genomic Databases Is A Barrier To Translating Precision Medicine Research Into Practice

Health Affairs(2018)10.1377/hlthaff.2017.1595

N/A

0.872DataRank · unranked

334 citations

Nadya Ali, David R. Williams, Heidi L. Rehm, Vence L. Bonham, Latrice G. Landry

The landscape of tolerated genetic variation in humans and primates

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.05.01.538953

N/A

0.782DataRank · unranked

24 citations

Tobias Hamp, Jeffrey M. Ede, Joshua G. Schraiber, Jeremy F. McRae, Moriel Singer‐Berk +92 more

The landscape of tolerated genetic variation in humans and primates

Science(2023)10.1126/science.abn8197

N/A

0.780DataRank · unranked

180 citations

Tobias Hamp, Jeffrey M. Ede, Joshua G. Schraiber, Jeremy F. McRae, Moriel Singer‐Berk +92 more

Mitochondrial DNA variation across 56,434 individuals in gnomAD

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.07.23.453510

Top 27%

0.757DataRank

Top 27%20 citations

Nicole J. Lake, Nicholas A. Watts, Megan Shand, Andrea Haessly, Laura D. Gauthier +12 more

Harmonizing variant classification for return of results in the All of Us Research Program

Human Mutation(2021)10.1002/humu.24317

Top 27%

0.738DataRank

Top 27%17 citations

Christina Austin‐Tse, Serra Kim, Matthew S. Lebo, Annette Leon, David R. Murdock +8 more

Seven years since the launch of the Matchmaker Exchange: the evolution of genomic matchmaking

(2022)10.22541/au.164746810.06225040/v1

Top 28%

0.703DataRank

Top 28%14 citations

Danielle R. Azzariti, Ada Hamosh, Heidi L. Rehm, Kym M. Boycott

Insights from a genome-wide truth set of tandem repeat variation

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.05.05.539588

Top 34%

0.580DataRank

Top 34%12 citations

Grace Tiao, Heidi L. Rehm, Ben Weisburd

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

Defining a tandem repeat catalog and variation clusters for genome-wide analyses

10.1101/2024.10.04.615514

N/A

0.550DataRank · unranked

15 citations

Egor Dolzhenko, Mark F. Bennett, Matt C. Danzi, Isaac R. L. Xu, Hope Tanudisastro +18 more

Time to make rare disease diagnosis accessible to all

Nature Medicine(2022)10.1038/s41591-021-01657-3

N/A

0.542DataRank · unranked

36 citations

Heidi L. Rehm

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

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

Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates

Genetics in Medicine(2021)10.1016/j.gim.2021.10.010

N/A

0.494DataRank · unranked

26 citations

Wanfeng Yu, Andrea M. Oza, Megan Hawley, Prathik K. Vijay Kumar, Christopher Koch +12 more

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)10.1016/j.ajhg.2024.03.008

N/A

0.489DataRank · unranked

25 citations

Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk +59 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

Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing

Value in Health(2020)10.1016/j.jval.2020.01.017

N/A

0.416DataRank · unranked

15 citations

Dmitry Dukhovny, Kathryn A. Phillips, Alan H. Beggs, Robert C. Green, Richard B. Parad +27 more

Improved allele frequencies in gnomAD through local ancestry inference

Nature Communications(2025)10.1038/s41467-025-63340-2

Top 45%

0.414DataRank

Top 45%11 citations

Michael W. Wilson, Grace Tiao, Katherine R. Chao, Philip W. Darnowsky, Nicholas A. Watts +7 more

Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.08.12.248526

N/A

0.385DataRank · unranked

12 citations

Elise Valkanas, Jessica L. Giordano, Harold Z. Wang, Benjamin B Currall, Kathryn O’Keefe +40 more

Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes

Nature Communications(2022)10.1038/s41467-022-32009-5

N/A

0.360DataRank · unranked

10 citations

Valerie N. Morrill, Seung Hoan Choi, Sean J. Jurgens, Giorgio Melloni, Nicholas Marston +39 more

Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations

medRxiv(2023)10.1101/2023.05.25.23290535

N/A

0.330DataRank · unranked

8 citations

Leah C. Kottyan, Christopher Kachulis, Noura S. Abul‐Husn, Josh Arias, Gillian M. Belbin +71 more

Monogenic and Polygenic Contributions to QTc Prolongation in the Population

medRxiv(2021)10.1101/2021.06.18.21258578

N/A

0.320DataRank · unranked

5 citations

Valerie N. Morrill, Sean J. Jurgens, Seung Hoan Choi, Amelia Weber Hall, Lu‐Chen Weng +33 more

Returning Actionable Genomic Results in a Research Biobank: Analytic Validity, Clinical Implementation and Resource Utilization

medRxiv(2021)10.1101/2021.08.03.21261489

Top 53%

0.319DataRank

Top 53%4 citations

Nidhi Shah, Kalotina Machini, Emma Perez, Kurt D. Christensen, Hana Zouk +15 more

Rare penetrant mutations confer severe risk of common diseases

medRxiv(2023)10.1101/2023.05.01.23289356

N/A

0.269DataRank · unranked

5 citations

Jeremy F. McRae, Jacob C. Ulirsch, Jacqueline S. Dron, Tobias Hamp, Yanshen Yang +16 more

Accessing clinical-grade genomic classification data through the ClinGen Data Platform

PubMed(2022)10.1142/9789811270611_0048

Top 59%

0.264DataRank

Top 59%4 citations

Heidi L. Rehm, Matt W. Wright, Mark E. Mandell, Kilannin Krysiak, Lawrence Babb +4 more

Medical Evaluation of Unanticipated Monogenic Disease Risks Identified through Newborn Genomic Screening: Findings from the BabySeq Project

medRxiv(2022)10.1101/2022.03.18.22272284

N/A

0.241DataRank · unranked

4 citations

Nidhi Shah, Casie A. Genetti, Timothy W. Yu, Bethany Zettler, Talia S. Schwartz +13 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

Significant underascertainment in Huntington’s disease

Brain Communications(2025)10.1093/braincomms/fcaf194

N/A

0.165DataRank · unranked

2 citations

Ben Weisburd, Jiwoo Lee, Kevin Correia, Sophia Zeng, Seri S. Park +10 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

Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking

Human Mutation(2022)10.1002/humu.24373

N/A

0DataRank · unranked

51 citations

Danielle R. Azzariti, Ada Hamosh, Heidi L. Rehm, Kym M. Boycott

Monogenic and Polygenic Contributions to QTc Prolongation in the Population

Circulation(2022)10.1161/circulationaha.121.057261

N/A

0DataRank · unranked

50 citations

Valerie N. Morrill, Sean J. Jurgens, Seung Hoan Choi, Amelia W. Hall, Lu-Chen Weng +34 more

International federation of genomic medicine databases using GA4GH standards

Cell Genomics(2021)10.1016/j.xgen.2021.100032

N/A

0DataRank · unranked

57 citations

Heidi L. Rehm, Peter Goodhand, Angela Page, Yann Joly, Michael Baudis +10 more

Evaluating the impact of in silico predictors on clinical variant classification

Genetics in Medicine(2021)10.1016/j.gim.2021.11.018

N/A

0DataRank · unranked

62 citations

Mahdi Sarmady, Bryan Wulf, Matt W. Wright, Heidi L. Rehm, Leslie G. Biesecker +2 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

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

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

Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group

Genetics in Medicine(2023)10.1016/j.gim.2023.101036

N/A

0DataRank · unranked

70 citations

Marcie Steeves, Pınar Bayrak‐Toydemir, Katherine A. Benson, Bradley P. Coe, Laura K. Conlin +42 more

Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.05.007

N/A

0DataRank · unranked

55 citations

Nidhi Shah, Casie A. Genetti, Timothy W. Yu, Bethany Zettler, Melissa Kurtz Uveges +12 more

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.07.010

N/A

0DataRank · unranked

54 citations

Elise Valkanas, Jessica L. Giordano, Harold Z. Wang, Benjamin B Currall, Kathryn O’Keefe +40 more

Tracking genetic variants in the biomedical literature using LitVar 2.0

Nature Genetics(2023)10.1038/s41588-023-01414-x

N/A

0DataRank · unranked

40 citations

Chih-Hsuan Wei, Lon Phan, Timothy Hefferon, Melissa Landrum, Heidi L. Rehm +2 more

Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.08.005

N/A

0DataRank · unranked

30 citations

Sanna Gudmundsson, Samantha Baxter, Eleanor G. Seaby, Eleina England, Jordan C. Wood +8 more

Advancing Understanding of Inequities in Rare Disease Genomics

Clinical Therapeutics(2023)10.1016/j.clinthera.2023.06.010

N/A

0DataRank · unranked

22 citations

Melanie O’Leary, Grace E. VanNoy, Brian Mangilog, Ingrid A. Holm, Yarden S. Fraiman +4 more

Aligning NIH’s existing data use restrictions to the GA4GH DUO standard

Cell Genomics(2023)10.1016/j.xgen.2023.100381

N/A

0DataRank · unranked

11 citations

Elena M. Ghanaim, Jinyoung Baek, Ha-rin Lee, Heidi L. Rehm, Jonathan Lawson

Multilevel barriers and facilitators to widespread use of preconception carrier screening in the United States

Genetics in Medicine(2023)10.1016/j.gim.2023.100946

N/A

0DataRank · unranked

7 citations

Kelsey Flannery, Anjali J. Kaimal, Karen Sepucha, Heidi L. Rehm, Jennifer S. Haas +1 more

A pooled electronic consultation program to improve access to genetics specialists

Genetics in Medicine Open(2023)10.1016/j.gimo.2023.100819

N/A

0DataRank · unranked

5 citations

Renée C. Pelletier, Daniel C. Chung, Susan A. Goldstein, Douglas S. Micalizzi, Kristen M. Shannon +5 more

An Environmental Scan of Consumer-Initiated Germline Genetic Testing for Health Risks

Mayo Clinic Proceedings(2023)10.1016/j.mayocp.2023.04.008

N/A

0DataRank · unranked

2 citations

Heidi L. Rehm, Leland E. Hull, Hannah G. Kirby

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

ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants

UNC Libraries(2020)10.17615/0r6z-dk65

N/A

0DataRank · unranked

0 citations

Kevin Riehle, Heidi L. Rehm, Rajarshi Ghosh, Tristan H Nelson, Aaron B. Baker +16 more

Discordant calls across genotype discovery approaches elucidate variants with systematic errors

Genome Research(2023)10.1101/gr.277908.123

N/A

0DataRank · unranked

21 citations

Mykyta Artomov, Alexander A. Loboda, Heidi L. Rehm, Daniel G. MacArthur, Konrad J. Karczewski +3 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

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

medRxiv(2023)10.1101/2023.08.08.23293829

N/A

0DataRank · unranked

8 citations

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

0DataRank · unranked

7 citations

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

Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data

medRxiv(2023)10.1101/2023.03.08.23286955

N/A

0DataRank · unranked

4 citations

Sanna Gudmundsson, Samantha Baxter, Eleanor G. Seaby, Eleina England, Jordan C. Wood +8 more

A Pooled Electronic Consultation Program to Improve Access to Genetics Specialists

medRxiv(2023)10.1101/2023.02.08.23284667

N/A

0DataRank · unranked

3 citations

Renée C. Pelletier, Daniel C. Chung, Susan A. Goldstein, Douglas S. Micalizzi, Kristen M. Shannon +5 more

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

medRxiv(2023)10.1101/2023.10.05.23296595

N/A

0DataRank · unranked

1 citations

Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk +59 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

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

Genome Sequencing for Diagnosing Rare Diseases

New England Journal of Medicine(2024)10.1056/nejmoa2314761

N/A

0DataRank · unranked

189 citations

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

Correspondence on “The role of clinical response to treatment in determining pathogenicity of genomic variants” by Shen et al.

Genetics in Medicine(2020)10.1038/s41436-020-01032-6

N/A

0DataRank · unranked

1 citations

Steven M. Harrison, Heidi L. Rehm, Leslie G. Biesecker

Contributors

Genomic and Personalized Medicine(2013)10.1016/b978-0-12-382227-7.00124-5

N/A

0DataRank · unranked

0 citations

Minhaz Uddin Ahmed, Sun Hee Ahn, R. Rand Allingham, Jude Alsarraj, Matthew L. Anderson +228 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

0DataRank · unranked

23 citations

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

Genetic variation in the Middle East—an opportunity to advance the human genetics field

Genome Medicine(2020)10.1186/s13073-020-00821-7

N/A

0DataRank · unranked

45 citations

Heidi L. Rehm, Ahmad Abou Tayoun

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

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets

Genetics in Medicine(2024)10.1016/j.gim.2024.101336

N/A

0DataRank · unranked

7 citations

Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin‐Tse +34 more

Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies

Human Genetics(2024)10.1007/s00439-024-02657-2

N/A

0DataRank · unranked

6 citations

Elizabeth A. Burke, Sukyeong Lee, Tanya N. Eble, Melanie O’Leary, Ikeoluwa Osei‐Owusu +18 more

Family genetic risk communication and reverse cascade testing in the BabySeq project

Genetics in Medicine(2024)10.1016/j.gim.2024.101350

N/A

0DataRank · unranked

3 citations

Hadley Stevens Smith, Stacey Pereira, Casie A. Genetti, Amy L. McGuire, Alan H. Beggs +38 more

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0DataRank · unranked

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0DataRank · unranked

59 citations

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medRxiv(2024)10.1101/2024.04.07.24305438

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0DataRank · unranked

10 citations

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0DataRank · unranked

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0DataRank · unranked

1 citations

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medRxiv(2024)10.1101/2024.02.11.24302646

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0DataRank · unranked

0 citations

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0DataRank · unranked

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0DataRank · unranked

0 citations

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0 citations

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0DataRank · unranked

45 citations

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0DataRank · unranked

16 citations

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0DataRank · unranked

2 citations

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0DataRank · unranked

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The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.05.002

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0DataRank · unranked

60 citations

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0DataRank · unranked

17 citations

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0DataRank · unranked

112 citations

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0DataRank · unranked

17 citations

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0DataRank · unranked

11 citations

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medRxiv(2021)10.1101/2021.01.27.21250652

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0DataRank · unranked

8 citations

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medRxiv(2021)10.1101/2021.02.12.21251663

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0DataRank · unranked

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0DataRank · unranked

1 citations

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medRxiv(2021)10.1101/2021.06.09.21258594

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0DataRank · unranked

1 citations

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bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.08.09.455612

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0DataRank · unranked

0 citations

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

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0DataRank · unranked

548 citations

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The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.01.008

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0DataRank · unranked

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Human Mutation(2022)10.1002/humu.24366

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0DataRank · unranked

112 citations

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Cell Genomics(2021)10.1016/j.xgen.2021.100027

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0DataRank · unranked

56 citations

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Genome Medicine(2022)10.1186/s13073-022-01031-z

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0DataRank · unranked

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

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0DataRank · unranked

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