Joel N. Hirschhorn

Also affiliated with Boston Children's Hospital, Harvard University

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

8.0Author DataRank

Indexed papers

5in 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 5 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.

Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects

Nature Communications(2018)10.1038/s41467-018-06159-4

Top 3%

6.6DataRank

Top 3%260 citations

Yossi Farjoun, Ilya Shlyakhter, Olga Krasheninina, Hyun Min Kang, Daniel P. Howrigan +16 more

Papers

Driven by 65 papers — median percentile 0. Top paper: “Correction: Corrigendum: Synchronized age-related gene expression changes across multiple tissues in human and the link to complex diseases”.

Correction: Corrigendum: Synchronized age-related gene expression changes across multiple tissues in human and the link to complex diseases

Scientific Reports(2016)10.1038/srep19384

N/A

10.4DataRank · unranked

722 citations

Tao Huang, Francesca Petralia, Quan Long, Bin Zhang, Carmen Argmann +129 more

Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data

Nature Genetics(2022)10.1038/s41588-021-00997-7

N/A

7.2DataRank · unranked

363 citations

Deepti Jain, Zhili Zheng, TOPMed Anthropometry Working Group, Stella Aslibekyan, Diane M. Becker +95 more

Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects

Nature Communications(2018)10.1038/s41467-018-06159-4

Top 3%

6.6DataRank

Top 3%260 citations

Yossi Farjoun, Ilya Shlyakhter, Olga Krasheninina, Hyun Min Kang, Daniel P. Howrigan +16 more

The Power of Meta-Analysis in Genome-Wide Association Studies

Annual Review of Genomics and Human Genetics(2013)10.1146/annurev-genom-091212-153520

N/A

5.9DataRank · unranked

129 citations

Cristen J. Willer, Joel N. Hirschhorn, John P. A. Ioannidis, Orestis A. Panagiotou

Enhanced Statistical Tests for GWAS in Admixed Populations: Assessment using African Americans from CARe and a Breast Cancer Consortium

PLoS Genetics(2011)10.1371/journal.pgen.1001371

N/A

5.4DataRank · unranked

140 citations

Noah Zaitlen, Guillaume Lettre, Gary K. Chen, Arti Tandon, W. H. Linda Kao +40 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

Genome-wide association study identifies 48 common genetic variants associated with handedness

Nature Human Behaviour(2020)10.1038/s41562-020-00956-y

N/A

3.7DataRank · unranked

157 citations

Joyce Y. Tung, Nicholas Eriksson, Eva Albrecht, Fazil Alıev, Ole A. Andreassen +95 more

Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases

medRxiv(2020)10.1101/2020.09.08.20190561

N/A

3.4DataRank · unranked

132 citations

Jacob C. Ulirsch, Nathan Y. Cheng, Brian L. Trippe, Rebecca S. Fine, Jenkai Miao +24 more

52 Genetic Loci Influencing Myocardial Mass

Journal of the American College of Cardiology(2016)10.1016/j.jacc.2016.07.729

N/A

2.4DataRank · unranked

135 citations

Jessica van Setten, Niek Verweij, Georg Vogler, Matthew T. Maurano, Xinchen Wang +172 more

PGC-1α-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes

Nature Genetics(2003)10.1038/ng1180

N/A

1.4DataRank · unranked

10534 citations

Cecilia M. Lindgren, Karl-Fredrik Eriksson, Aravind Subramanian, Smita Sihag, Joseph Lehar +19 more

Biological insights from 108 schizophrenia-associated genetic loci

Nature(2014)10.1038/nature13595

N/A

1.3DataRank · unranked

8042 citations

Stephan Ripke, Aiden Corvin, Jesse R. Dixon, Kai-How Farh, Peter Holmans +284 more

Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects

bioRxiv (Cold Spring Harbor Laboratory)(2018)10.1101/269316

Top 16%

1.3DataRank

Top 16%34 citations

Yossi Farjoun, David Larson, Olga Krasheninina, Hyun Min Kang, Daniel P. Howrigan +19 more

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

Nature Reviews Genetics(2008)10.1038/nrg2344

N/A

1.2DataRank · unranked

2954 citations

Gonçalo R. Abecasis, Lon R. Cardon, David B. Goldstein, Julian Little, John P. A. Ioannidis +2 more

Defining the role of common variation in the genomic and biological architecture of adult human height

Nature Genetics(2014)10.1038/ng.3097

N/A

1.1DataRank · unranked

2093 citations

Emilio Rodríguez-Ruiz, The PAGE Consortium, Diana O. Perkins, Tonu Esko, Jian Yang +479 more

Reference-based phasing using the Haplotype Reference Consortium panel

Nature Genetics(2016)10.1038/ng.3679

N/A

1.1DataRank · unranked

1987 citations

Chris O’Sullivan, Pier Francesco Palamara, Christian Fuchsberger, Yakir A Reshef, Hilary K. Finucane +9 more

Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.02.011

N/A

1.1DataRank · unranked

34 citations

Anne E. Justice, Kristin L. Young, Eirini Marouli, Xinruo Zhang, Rebecca S. Fine +220 more

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

Nature Genetics(2016)10.1038/ng.3725

N/A

1.1DataRank · unranked

1129 citations

Daniel P. Howrigan, Daniele Merico, Bhooma Thiruvahindrapuram, Wenting Wu, Douglas S. Greer +267 more

Effect of predicted protein-truncating genetic variants on the human transcriptome

Science(2015)10.1126/science.1261877

N/A

0.877DataRank · unranked

345 citations

Matti Pirinen, Donald F. Conrad, Monkol Lek, Emily K. Tsang, Konrad J. Karczewski +206 more

Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases

Nature Genetics(2023)10.1038/s41588-023-01443-6

N/A

0.853DataRank · unranked

293 citations

Jacob C. Ulirsch, Nathan Y. Cheng, Brian L. Trippe, Rebecca S. Fine, Jenkai Miao +23 more

Synchronized age-related gene expression changes across multiple tissues in human and the link to complex diseases

Scientific Reports(2015)10.1038/srep15145

N/A

0.811DataRank · unranked

222 citations

Tao Huang, Francesca Petralia, Quan Long, Bin Zhang, Carmen Argmann +128 more

Genome-Wide Association Study of Quantitative Kidney Function in 52,531 Individuals with Diabetes Identifies Five Diabetes-Specific Loci

Journal of the American Society of Nephrology(2025)10.1681/asn.0000000718

N/A

0.275DataRank · unranked

5 citations

Emma H. Dahlström, Damian Fermin, Yogesh Gupta, Claire Hill, Laura J. Smyth +47 more

Identification of ten loci associated with height highlights new biological pathways in human growth

UNC Libraries(2021)10.17615/jwbr-0w10

N/A

0DataRank · unranked

0 citations

Frank B. Hu, Peter Kraft, S. Eyheramendy, Candace Guiducci, H.‐Erich Wichmann +26 more

Post-translational control of beige fat biogenesis by PRDM16 stabilization

Nature(2022)10.1038/s41586-022-05067-4

N/A

0DataRank · unranked

112 citations

Huixia Li, Kazuki Tajima, Anthony R.P. Verkerke, Zachary Taxin, Zhi-Shuai Hou +10 more

Epigenome-wide meta-analysis identifies DNA methylation biomarkers associated with diabetic kidney disease

Nature Communications(2022)10.1038/s41467-022-34963-6

N/A

0DataRank · unranked

52 citations

Emma H. Dahlström, Anna Syreeni, Katie Kerr, Jill Kilner, Ross Doyle +23 more

Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder

Nature Communications(2022)10.1038/s41467-022-30968-3

N/A

0DataRank · unranked

27 citations

Yingleong Chan, Pepper Dawes, Xiaoge Guo, Serkan Erdin, Derek J.C. Tai +15 more

Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms

Journal of Medical Genetics(2022)10.1136/jmedgenet-2022-108490

N/A

0DataRank · unranked

6 citations

Grazia Iannello, Alicja A. Skowronski, Katelyn Dannheim, Leonard Cheung, Pankaj B. Agrawal +6 more

Genome-wide CRISPR screening of chondrocyte maturation newly implicates genes in skeletal growth and height-associated GWAS loci

Cell Genomics(2023)10.1016/j.xgen.2023.100299

N/A

0DataRank · unranked

19 citations

Eric Bartell, Anders Eliasen, John G. Doench, Loïc Yengo, Sailaja Vedantam +5 more

Identification and analysis of individuals who deviate from their genetically-predicted phenotype

PLoS Genetics(2023)10.1371/journal.pgen.1010934

N/A

0DataRank · unranked

11 citations

Loic Yengo, Sailaja Vedantam, Eirini Marouli, Robin N. Beaumont, Jessica Tyrrell +5 more

Phenotyping children and adolescents with obesity using behavioral, psychological, and familial data

Obesity(2023)10.1002/oby.23893

N/A

0DataRank · unranked

9 citations

Marian Tanofsky‐Kraff, Jack A. Yanovski, Nicholas J. Horton, Joel N. Hirschhorn, Alison E. Field +1 more

Pediatric Features of Genetic Predisposition to Polycystic Ovary Syndrome

The Journal of Clinical Endocrinology & Metabolism(2023)10.1210/clinem/dgad533

N/A

0DataRank · unranked

5 citations

Anders Eliasen, Izzuddin M. Aris, Sara Stinson, Jens‐Christian Holm, Torben Hansen +6 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

0DataRank · unranked

7 citations

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

Genetics of skeletal proportions in two different populations

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.05.22.541772

N/A

0DataRank · unranked

4 citations

Kuang Lin, Kristin Tsuo, Wei Gan, Sailaja Vedantam, Joanne B. Cole +13 more

Data from Haplotype Analysis of the HSD17B1 Gene and Risk of Breast Cancer: A Comprehensive Approach to Multicenter Analyses of Prospective Cohort Studies

(2023)10.1158/0008-5472.c.6495299.v1

N/A

0DataRank · unranked

0 citations

David G. Cox, Howard M. Cann, Sholom Wacholder, Rudolf Kaaks, Brian E. Henderson +34 more

Functional genomics of human skeletal development and the patterning of height heritability

Cell(2024)10.1016/j.cell.2024.10.040

N/A

0DataRank · unranked

29 citations

Pushpanathan Muthuirulan, Mariel Young, Loïc Yengo, Sailaja Vedantam, Eirini Marouli +4 more

An integrative framework to prioritize genes in more than 500 loci associated with body mass index

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.04.016

N/A

0DataRank · unranked

25 citations

Victor Svenstrup, Virginia Diez Obrero, Michael Preuß, Arden Moscati, Joel N. Hirschhorn +2 more

Contributions of Common Genetic Variants to Constitutional Delay of Puberty and Idiopathic Hypogonadotropic Hypogonadism

The Journal of Clinical Endocrinology & Metabolism(2024)10.1210/clinem/dgae166

N/A

0DataRank · unranked

7 citations

Evan C Schafer, Anna A Hindman, Wei He, Raja Brauner, Angela Delaney +18 more

Associations between phenotypes of childhood and adolescent obesity and incident hypertension in young adulthood

International Journal of Obesity(2024)10.1038/s41366-024-01700-6

N/A

0DataRank · unranked

1 citations

Marian Tanofsky‐Kraff, Jack A. Yanovski, Nicholas J. Horton, Laura Reich, Jorge E. Chavarro +4 more

The power of genetic diversity in genome-wide association studies of lipids

UNC Libraries(2024)10.17615/539b-tz69

N/A

0DataRank · unranked

5 citations

Joel N. Hirschhorn, Zoltán Kutalik, Sanni Ruotsalainen, Daniela Ruggiero, Prashantha Hebbar +95 more

Non-canonical Wnt signaling triggered by WNT2B drives adrenal aldosterone production

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.08.23.609423

N/A

0DataRank · unranked

11 citations

Donald W. Little, Taciani de Almeida Magalhães, Claudio Henrique T. Ribeiro, Typhanie Dumontet, Christopher R. LaPensee +17 more

Blood methylation biomarkers are associated with diabetic kidney disease progression in type 1 diabetes

medRxiv(2024)10.1101/2024.11.28.24318055

N/A

0DataRank · unranked

2 citations

Emma H. Dahlström, Laura J. Smyth, Claire Hill, Stefan Mutter, Yogesh Gupta +11 more

Associations Between Phenotypes of Childhood and Adolescent Obesity and Incident Hypertension in Young Adulthood

Research Square(2024)10.21203/rs.3.rs-4113605/v1

N/A

0DataRank · unranked

0 citations

Marian Tanofsky‐Kraff, Jack A. Yanovski, Nicholas J. Horton, Laura Reich, Jorge E. Chavarro +4 more

Blood Leukocyte DNA Methylation Predicts Risk of Future Myocardial Infarction and Coronary Heart Disease

UNC Libraries(2024)10.17615/e2ke-q382

N/A

0DataRank · unranked

0 citations

Andrew P. Feinberg, Elias Salfati, Tianxiao Huan, G Zhang, Stefania Bandinelli +52 more

Exome-Wide Analysis Identifies a Rare EXD3 Missense Variant Associated With Diabetic Kidney Disease

Kidney International Reports(2025)10.1016/j.ekir.2025.09.053

N/A

0DataRank · unranked

2 citations

Joanne B. Cole, Viji Nair, Eoin Brennan, Elena Giardini, Jani K. Haukka +53 more

Insights from the largest diverse ancestry sex-specific disease map for genetically predicted height

npj Genomic Medicine(2025)10.1038/s41525-025-00464-w

N/A

0DataRank · unranked

1 citations

Elizabeth Litkowski, Mariaelisa Graff, Zhe Wang, Roelof A. J. Smit, Geetha Chittoor +34 more

Baseline metabolomic profile as potential biomarker for weight change after Roux-en-Y gastric bypass (RYGB) surgery

Research Square(2025)10.21203/rs.3.rs-7256000/v1

N/A

0DataRank · unranked

0 citations

Wanjun Gu, Shuliang Deng, Nicholas Stylopoulos, Clary B. Clish, Joel N. Hirschhorn +2 more

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

UNC Libraries(2020)10.17615/3we9-ae42

Top 100%

0DataRank

Top 100%0 citations

David S. DeLuca, Ayellet V. Segrè, Timothy J. Sullivan, Timothy R. Young, Ellen T. Gelfand +27 more

Hepatic NADH reductive stress underlies common variation in metabolic traits

Nature(2020)10.1038/s41586-020-2337-2

N/A

0DataRank · unranked

209 citations

Andrew L. Markhard, Hardik Shah, Rohit Sharma, Owen S. Skinner, Clary B. Clish +12 more

Comprehensive genomic analysis of dietary habits in UK Biobank identifies hundreds of genetic associations

Nature Communications(2020)10.1038/s41467-020-15193-0

N/A

0DataRank · unranked

190 citations

José C. Florez, Joel N. Hirschhorn, Joanne B. Cole

rs641738C>T near MBOAT7 is associated with liver fat, ALT and fibrosis in NAFLD: A meta-analysis

Journal of Hepatology(2020)10.1016/j.jhep.2020.08.027

N/A

0DataRank · unranked

140 citations

Kushala Abeysekera, Leon A. Adams, Elmar Aigner, Quentin M. Anstee, Jesús M. Bañales +93 more

Potential causal role of l-glutamine in sickle cell disease painful crises: A Mendelian randomization analysis

Blood Cells Molecules and Diseases(2020)10.1016/j.bcmd.2020.102504

N/A

0DataRank · unranked

18 citations

Melanie E. Garrett, Pablo Bartolucci, Carlo Brugnara, Clary B. Clish, Joel N. Hirschhorn +5 more

Genes with specificity for expression in the round cell layer of the growth plate are enriched in genomewide association study (GWAS) of human height

Journal of Bone and Mineral Research(2020)10.1002/jbmr.4408

N/A

0DataRank · unranked

13 citations

Priyanka Nakka, John M. Baronas, Henry M. Kronenberg, Joel N. Hirschhorn, Nora E. Renthal

Combined admixture mapping and association analysis identifies a novel blood pressure genetic locus on 5p13: contributions from the CARe consortium

UNC Libraries(2020)10.17615/a03d-0d18

N/A

0DataRank · unranked

1 citations

Daniel L. Dries, Kiang Liu, Xiaofeng Zhu, Charleston W. K. Chiang, Adebowale Adeyemo +27 more

Meta-analysis of Gene-Level Associations for Rare Variants Based on Single-Variant Statistics

UNC Libraries(2020)10.17615/qhxy-td18

N/A

0DataRank · unranked

1 citations

Kari E. North, D. Y. Lin, Andrea Ganna, Felix R. Day, Eleanor Wheeler +23 more

Data integration of bulk and single-cell transcriptomics from cerebral organoids and post-mortem brains to identify cell types and cell type specific driver genes in autism

Research Square(2020)10.21203/rs.3.rs-113869/v1

Top 100%

0DataRank

Top 100%0 citations

Yingleong Chan, Mannix J. Burns, Xiaoge Guo, Serkan Erdin, Derek J.C. Tai +13 more

Common variants in the GDF5-UQCC region are associated with variation in human height

UNC Libraries(2020)10.17615/th6f-r873

N/A

0DataRank · unranked

0 citations

Nicholas J. Timpson, Yoav Ben‐Shlomo, Debbie A. Lawlor, Lori L. Bonnycastle, Laura J. Scott +27 more

Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals

UNC Libraries(2020)10.17615/a384-d483

N/A

0DataRank · unranked

0 citations

Jerome I. Rotter, Alex P. Reiner, André G. Uitterlinden, Gonçalo R. Abecasis, Digna R. Velez Edwards +95 more

Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits

UNC Libraries(2020)10.17615/m864-xv86

N/A

0DataRank · unranked

0 citations

Lisa R. Yanek, Kjell Nikus, Salman M. Tajuddin, Jussi Hernesniemi, Dawn Waterworth +95 more

Correction: Genome-wide physical activity interactions in adiposity ― A meta-analysis of 200,452 adults

UNC Libraries(2020)10.17615/v0aq-7b55

N/A

0DataRank · unranked

0 citations

Lynne J. Hocking, Najaf Amin, Lori L. Bonnycastle, Ching‐Ti Liu, Inês Barroso +95 more

Replication and fine mapping of asthma-associated loci in individuals of African ancestry

UNC Libraries(2020)10.17615/fpe5-k921

N/A

0DataRank · unranked

0 citations

Meng, Yan, Alkes L. Price, R. Graham Barr, Laura R. Loehr, Wendy White +16 more

Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases

UNC Libraries(2020)10.17615/s8sd-h432

Top 100%

0DataRank

Top 100%0 citations

Todd L. Edwards, Jin Li, John M. Starr, Eric Boerwinkle, Yingchang Lu +92 more

Across-cohort QC analyses of GWAS summary statistics from complex traits

UNC Libraries(2020)10.17615/mfev-3g68

N/A

0DataRank · unranked

0 citations

Jian Yang, Matthew R. Robinson, Sang Lee, Peter M. Visscher, Guo‐Bo Chen +12 more

Assessment of differentially methylated loci in individuals with end-stage kidney disease attributed to diabetic kidney disease: an exploratory study

Clinical Epigenetics(2021)10.1186/s13148-021-01081-x

N/A

0DataRank · unranked

63 citations

Jill Kilner, Viji Nair, H. Liu, Eoin Brennan, Katie Kerr +23 more

Evidence From Men for Ovary-independent Effects of Genetic Risk Factors for Polycystic Ovary Syndrome

The Journal of Clinical Endocrinology & Metabolism(2021)10.1210/clinem/dgab838

N/A

0DataRank · unranked

40 citations

Natàlia Pujol‐Gualdo, Laura Brigitte Leen Wittemans, Cecilia M. Lindgren, Triin Laisk, Joel N. Hirschhorn +2 more

The comparative effect of exposure to various risk factors on the risk of hyperuricaemia: diet has a weak causal effect

Arthritis Research & Therapy(2021)10.1186/s13075-021-02444-8

N/A

0DataRank · unranked

37 citations

Tanya J. Major, José C. Florez, Joel N. Hirschhorn, Murray Cadzow, Nicola Dalbeth +6 more

Genes with Specificity for Expression in the Round Cell Layer of the Growth Plate are Enriched in GWAS of Human Height

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.02.24.432568

N/A

0DataRank · unranked

0 citations

Priyanka Nakka, John M. Baronas, Henry M. Kronenberg, Joel N. Hirschhorn, Nora E. Renthal

Joel N. Hirschhorn

Indexed papers

Top data-sharing exemplar

Papers