Douglas M. Ruderfer

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 1%percentile

41.9Author 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.

Analysis of protein-coding genetic variation in 60,706 humans

Nature(2016)10.1038/nature19057

Top 1%

13.0DataRank

Top 1%10410 citations

Monkol Lek, Konrad J. Karczewski, Eric V. Minikel, Kaitlin E. Samocha, Iain Mathieson +76 more

Papers

Driven by 68 papers — median percentile 97. Top paper: “Analysis of protein-coding genetic variation in 60,706 humans”.

Analysis of protein-coding genetic variation in 60,706 humans

Nature(2016)10.1038/nature19057

Top 1%

13.0DataRank

Top 1%10410 citations

Monkol Lek, Konrad J. Karczewski, Eric V. Minikel, Kaitlin E. Samocha, Iain Mathieson +76 more

A global reference for human genetic variation

Nature(2015)10.1038/nature15393

Top 1%

10.6DataRank

Top 1%20166 citations

Gonçalo R. Abecasis, Richard M. Durbin, Panagiotis Deloukas, Aravinda Chakravarti, Peter Donnelly +516 more

A structural variation reference for medical and population genetics

Nature(2020)10.1038/s41586-020-2287-8

Top 3%

6.7DataRank

Top 3%1180 citations

Harrison Brand, Konrad J. Karczewski, Xuefang Zhao, Jessica Alföldi, Laurent C. Francioli +201 more

Large eQTL meta-analysis reveals differing patterns between cerebral cortical and cerebellar brain regions

Scientific Data(2020)10.1038/s41597-020-00642-8

Top 3%

6.5DataRank

Top 3%331 citations

Thanneer M. Perumal, Minerva M. Carrasquillo, Mariet Allen, Joseph S. Reddy, Gabriel E. Hoffman +95 more

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

Nature Communications(2020)10.1038/s41467-019-12438-5

N/A

5.6DataRank · unranked

143 citations

James Zou, Beryl B. Cummings, Jessica Alföldi, Laurent C. Francioli, Laura D. Gauthier +174 more

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Nature Communications(2020)10.1038/s41467-019-10717-9

N/A

5.2DataRank · unranked

191 citations

Konrad J. Karczewski, Xiaolei Zhang, Sonia Chothani, Miriam J. Smith, D. Gareth Evans +181 more

The effect of LRRK2 loss-of-function variants in humans

Nature Medicine(2020)10.1038/s41591-020-0893-5

N/A

4.9DataRank · unranked

114 citations

Irina M. Armean, Aaron Kleinman, Jamie L. Marshall, Eric V. Minikel, Julia K. Goodrich +214 more

A cross-disorder dosage sensitivity map of the human genome

Cell(2022)10.1016/j.cell.2022.06.036

Top 5%

4.7DataRank

Top 5%367 citations

Joseph Glessner, Eleonora Porcu, Maarja Lepamets, Rhonda Brandon, Christopher Lauricella +46 more

Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease

Nature Communications(2018)10.1038/s41467-018-03911-8

N/A

3.1DataRank · unranked

104 citations

Amit V. Khera, Mark Chaffin, Derek Klarin, Pradeep Natarajan, Krishna Aragam +43 more

Genetic variants and functional pathways associated with resilience to Alzheimer’s disease

Brain(2020)10.1093/brain/awaa209

N/A

3.0DataRank · unranked

144 citations

Emily R. Mahoney, Shubhabrata Mukherjee, Michael L. Lee, William S. Bush, Corinne D. Engelman +44 more

Functional annotation of rare structural variation in the human brain

Nature Communications(2020)10.1038/s41467-020-16736-1

N/A

1.7DataRank · unranked

54 citations

Xuefang Zhao, Mary Lauren Benton, Thanneer M. Perumal, Ryan L. Collins, Gabriel E. Hoffman +65 more

The mutational constraint spectrum quantified from variation in 141,456 humans

Nature(2020)10.1038/s41586-020-2308-7

N/A

1.4DataRank · unranked

9958 citations

Laurent C. Francioli, Grace Tiao, Beryl B. Cummings, Jessica Alföldi, Qingbo S. Wang +187 more

Analysis of Genetically Regulated Gene Expression Identifies a Prefrontal PTSD Gene, SNRNP35, Specific to Military Cohorts

Cell Reports(2020)10.1016/j.celrep.2020.107716

N/A

1.4DataRank · unranked

68 citations

Chris Chatzinakos, Michael S. Breen, Jakob Hartmann, Torsten Klengel, Ana C. da Silva Almeida +40 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

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

Population-level variation in enhancer expression identifies disease mechanisms in the human brain

Nature Genetics(2022)10.1038/s41588-022-01170-4

N/A

1.1DataRank · unranked

53 citations

Gabriel E. Hoffman, Pasha Apontes, Jaroslav Bendl, Samir Rahman, Michael B. Fernando +48 more

Rare chromosomal deletions and duplications increase risk of schizophrenia

Nature(2008)10.1038/nature07239

N/A

1.1DataRank · unranked

1503 citations

Michael C O'Donovan, Catherine H. Wilson, Manfred Kayser, Pentti J. Tienari, Aiden Corvin +72 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

The genetic architecture of type 2 diabetes

Nature(2016)10.1038/nature18642

N/A

1.1DataRank · unranked

1106 citations

Menachem Fromer, Tanya M. Teslovich, Anubha Mahajan, Vineeta Agarwala, Kyle J. Gaulton +334 more

Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions

Cell Genomics(2023)10.1016/j.xgen.2023.100356

N/A

1.0DataRank · unranked

43 citations

Maxwell A. Sherman, Giulio Genovese, Thomas G. Gilgenast, Tushar Kamath, S.J. Burris +95 more

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia

Molecular Psychiatry(2011)10.1038/mp.2011.154

N/A

1.0DataRank · unranked

874 citations

A J Pocklington, D Ivanov, Samuel A. Rose, Andrew McQuillin, Hywel Williams +46 more

Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinson’s disease

bioRxiv (Cold Spring Harbor Laboratory)(2019)10.1101/561472

N/A

0.977DataRank · unranked

17 citations

Irina M. Armean, Aaron Kleinman, Jamie L. Marshall, Eric Vallabh Minikel, Konrad J. Karczewski +35 more

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia

Nature Neuroscience(2016)10.1038/nn.4402

N/A

0.931DataRank · unranked

495 citations

Menachem Fromer, Eli A. Stahl, Douglas M. Ruderfer, Kimberly D. Chambert, Mikael Landén +8 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

Transcript expression-aware annotation improves rare variant interpretation

Nature(2020)10.1038/s41586-020-2329-2

N/A

0.796DataRank · unranked

201 citations

Konrad J. Karczewski, Ditte Demontis, Eleanor G. Seaby, Nicholas A. Watts, Moriel Singer-Berk +177 more

Evaluating drug targets through human loss-of-function genetic variation

Nature(2020)10.1038/s41586-020-2267-z

N/A

0.779DataRank · unranked

179 citations

Konrad J. Karczewski, Hilary C. Martin, Beryl B. Cummings, Nicola Whiffin, Daniel R. Rhodes +150 more

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder

Molecular Psychiatry(2021)10.1038/s41380-020-01006-9

N/A

0.686DataRank · unranked

22 citations

Fernando S. Goes, Adam E. Locke, Duncan S. Palmer, Weiqing Wang, Sarah Cohen‐Woods +71 more

Distinct genetic liability profiles define clinically relevant patient strata across common diseases

Nature Communications(2024)10.1038/s41467-024-49338-2

N/A

0.466DataRank · unranked

10 citations

Georgii Dolgalev, Sylvain Moser, Laura T. Jiménez-Barrón, Till F. M. Andlauer, Moritz von Scheidt +95 more

Lab-wide association scan of polygenic scores identifies biomarkers of complex disease

medRxiv(2020)10.1101/2020.01.24.20018713

Top 45%

0.409DataRank

Top 45%9 citations

Julia Sealock, Péter Straub, Donald Hucks, Ky’Era V. Actkins, Annika Faucon +9 more

Analyses of GWAS signal using GRIN identify additional genes contributing to suicidal behavior

Communications Biology(2024)10.1038/s42003-024-06943-7

N/A

0.312DataRank · unranked

7 citations

Matthew Lane, Mikaela Cashman, J Izaak Miller, Mirko Pavicic, Angelica M. Walker +19 more

Genome sequencing of 35,024 predominantly African ancestry persons addresses gaps in genomics and healthcare

medRxiv(2025)10.1101/2025.10.30.25338549

N/A

0.241DataRank · unranked

4 citations

Mojgan Babanejad, James Baker, Xavier Bledsoe, Freida Blostein, Robert W. Corty +26 more

Integrating Electronic Health Records and Polygenic Risk to Identify Genetically Unrelated Comorbidities of Schizophrenia That May Be Modifiable

Biological Psychiatry Global Open Science(2024)10.1016/j.bpsgos.2024.100297

N/A

0.208DataRank · unranked

3 citations

Nick Strayer, Hyunjoon Lee, Karmel W. Choi, Siwei Zhang, Lide Han +5 more

Characterization of Age and Polarity at Onset in Bipolar Disorder

medRxiv(2021)10.1101/2021.04.16.21251163

N/A

0.197DataRank · unranked

2 citations

Loes M. Olde Loohuis, Annabel Vreeker, Andrew McQuillin, Eli A. Stahl, Douglas M. Ruderfer +95 more

Analysis of Genetically Regulated Gene Expression identifies a trauma type specific PTSD gene, SNRNP35

bioRxiv (Cold Spring Harbor Laboratory)(2019)10.1101/581124

N/A

0.165DataRank · unranked

2 citations

Michael S. Breen, Chris Chatzinakos, Jakob Hartmann, Torsten Klengel, Ana C. da Silva Almeida +35 more

Persistent Tic Disorders Are Associated With 17q12 Duplications

Research Square(2025)10.21203/rs.3.rs-7031850/v1

N/A

0.165DataRank · unranked

2 citations

Sheng Wang, Tyne W. Miller‐Fleming, Dongmei Yu, Apostolia Topaloudi, Elles de Schipper +23 more

Identification of Transdiagnostic Childhood Externalizing Pathology Within an Electronic Medical Records Database and Application to the Analysis of Rare Copy Number Variation

American Journal of Medical Genetics Part B Neuropsychiatric Genetics(2025)10.1002/ajmg.b.33020

N/A

0DataRank · unranked

0 citations

Lide Han, Sandra Sanchez-Roige, Maria Niarchou, Douglas M. Ruderfer, Lea K. Davis +1 more

Analysis of Genetically Regulated Gene Expression Identifies a Prefrontal PTSD Gene, SNRNP35, Specific to Military Cohorts

SSRN Electronic Journal(2019)10.2139/ssrn.3473465

N/A

0DataRank · unranked

0 citations

Chris Chatzinakos, Michael S. Breen, Jakob Hartmann, Torsten Klengel, Ana C. da Silva Almeida +42 more

Analysis of Genetically Regulated Gene Expression Identifies a Trauma Type Specific PTSD Gene, SNRNP35

SSRN Electronic Journal(2019)10.2139/ssrn.3353219

N/A

0DataRank · unranked

0 citations

Michael S. Breen, Chris Chatzinakos, Jakob Hartmann, Torsten Klengel, Ana C. da Silva Almeida +42 more

cellSTAAR: incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of noncoding regions

Nature Methods(2025)10.1038/s41592-025-02919-5

N/A

0DataRank · unranked

0 citations

Yi Zhang, Xihao Li, Margaret Sunitha Selvaraj, Zilin Li, Hufeng Zhou +544 more

Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network

UNC Libraries(2020)10.17615/bzr0-ap70

N/A

0DataRank · unranked

3 citations

Elad Ziv, Alan B. Zonderman, Jin Li, Ruth J. F. Loos, Michael A. Nalls +27 more

Genetic identification of a common collagen disease in Puerto Ricans via identity-by-descent mapping in a health system

UNC Libraries(2020)10.17615/mv5t-7356

N/A

0DataRank · unranked

0 citations

Jacqueline A. Odgis, Peters, Ulrike, Ruth J. F. Loos, Eimear E. Kenny, Claudia Schurmann +27 more

Fine-mapping reveals novel alternative splicing of the dopamine transporter

UNC Libraries(2020)10.17615/sbyt-hc58

N/A

0DataRank · unranked

0 citations

Pramod Thomas, Joel Wood, Michael Chen, A. Javier Lopez, Annie Watson +21 more

Gene expression elucidates functional impact of polygenic risk for schizophrenia

UNC Libraries(2020)10.17615/k6wj-s665

N/A

0DataRank · unranked

0 citations

Edwin C. Oh, Eli A. Stahl, David A. Bennett, Nicholas Katsanis, Tymor Hamamsy +53 more

Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders

UNC Libraries(2020)10.17615/apzh-eg06

N/A

0DataRank · unranked

0 citations

Julien Bryois, Hoang T. Nguyen, Feng He, August B. Smit, Kasper Lage +18 more

A polygenic burden of rare disruptive mutations in schizophrenia

UNC Libraries(2020)10.17615/carr-e613

N/A

0DataRank · unranked

0 citations

Sarah E. Bergen, Steven A. McCarroll, Eric S. Lander, Stacey B. Gabriel, Giulio Genovese +27 more

An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans

UNC Libraries(2020)10.17615/kf29-bk98

Top 100%

0DataRank

Top 100%0 citations

Karl Gertow, Veikko Salomaa, John D. Eicher, Anders Hamsten, Inga Prokopenko +94 more

Polygenic overlap between schizophrenia risk and antipsychotic response: a genomic medicine approach

UNC Libraries(2020)10.17615/13td-yy64

N/A

0DataRank · unranked

0 citations

Brian Kidd, Ben Readhead, Pamela Sklar, Stuart A. Scott, Shaun Purcell +9 more

Clinical laboratory test-wide association scan of polygenic scores identifies biomarkers of complex disease

Genome Medicine(2021)10.1186/s13073-020-00820-8

N/A

0DataRank · unranked

140 citations

Julia Sealock, Péter Straub, Young A Lee, Donald Hucks, Ky’Era V. Actkins +13 more

Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol

UNC Libraries(2021)10.17615/shbq-nv48

N/A

0DataRank · unranked

0 citations

Douglas M. Ruderfer, Goo Jun, Ji Zhang, Yun Li, Leslie A. Lange +27 more

Sex differences in the genetic architecture of cognitive resilience to Alzheimer’s disease

Brain(2022)10.1093/brain/awac177

N/A

0DataRank · unranked

102 citations

Logan Dumitrescu, Emily R. Mahoney, Alexandra N. Smith, Shubhabrata Mukherjee, Michael L. Lee +48 more

Convergent coexpression of autism associated genes suggests some novel risk genes may not be detectable in large-scale genetic studies

medRxiv(2022)10.1101/2022.02.28.22271620

N/A

0DataRank · unranked

0 citations

Mariana Moysés‐Oliveira, Celine E. de Esch, Riya Bhavsar, Xander Nuttle, Aiqun Li +14 more

Multi-omic characterization of brain changes in the vascular endothelial growth factor family during aging and Alzheimer's disease

Neurobiology of Aging(2023)10.1016/j.neurobiolaging.2023.01.010

N/A

0DataRank · unranked

49 citations

Logan Dumitrescu, Emily R. Mahoney, Annah M. Sclafani, Philip L. De Jager, Vilas Menon +11 more

Convergent coexpression of autism-associated genes suggests some novel risk genes may not be detectable in large-scale genetic studies

Cell Genomics(2023)10.1016/j.xgen.2023.100277

N/A

0DataRank · unranked

24 citations

Mariana Moysés‐Oliveira, Celine E.F. De Esch, Riya Bhavsar, Xander Nuttle, Aiqun Li +14 more

Cis-regulatory Landscape Size, Constraint, and Tissue Specificity Associate with Gene Function and Expression

Genome Biology and Evolution(2023)10.1093/gbe/evad126

N/A

0DataRank · unranked

8 citations

Douglas M. Ruderfer, John A. Capra, Mary Lauren Benton

Identifying modifiable comorbidities of schizophrenia by integrating electronic health records and polygenic risk

medRxiv(2023)10.1101/2023.06.01.23290057

N/A

0DataRank · unranked

2 citations

Nick Strayer, Karmel W. Choi, Hyunjoon Lee, Siwei Zhang, Lide Han +5 more

PheMIME: An Interactive Web App and Knowledge Base for Phenome-Wide, Multi-Institutional Multimorbidity Analysis

medRxiv(2023)10.1101/2023.07.23.23293047

N/A

0DataRank · unranked

2 citations

Nick Strayer, Tess Vessels, Karmel W. Choi, Geoffrey W Wang, Yajing Li +14 more

Mapping the landscape of lineage-specific dynamic regulation of gene expression using single-cell transcriptomics and application to genetics of complex disease

medRxiv(2023)10.1101/2023.10.24.23297476

N/A

0DataRank · unranked

2 citations

P. Charles Lin, Dan Zhou, Douglas M. Ruderfer, Eric R. Gamazon, Hanna Abe

Quantifying physical activity needed to mitigate genetic risk for obesity

Research Square(2023)10.21203/rs.3.rs-2986582/v1

N/A

0DataRank · unranked

1 citations

Jeffrey Annis, Hiral Master, Andrew Hughes, Dan M. Roden, Paul A. Harris +3 more

Evaluating the impact of modeling choices on the performance of integrated genetic and clinical models

medRxiv(2023)10.1101/2023.11.01.23297927

N/A

0DataRank · unranked

0 citations

Drew Willimitis, Michael Ripperger, Hyunjoon Lee, Lide Han, Yu Zhou +7 more

Sleep patterns and risk of chronic disease as measured by long-term monitoring with commercial wearable devices in the All of Us Research Program

Nature Medicine(2024)10.1038/s41591-024-03155-8

N/A

0DataRank · unranked

181 citations

Jeffrey Annis, Hiral Master, Lide Han, Karla Gleichauf, Jack Ching +8 more

Physical Activity and Incident Obesity Across the Spectrum of Genetic Risk for Obesity

JAMA Network Open(2024)10.1001/jamanetworkopen.2024.3821

N/A

0DataRank · unranked

39 citations

Lide Han, Jeffrey Annis, Hiral Master, Andrew Hughes, Dan M. Roden +3 more

Genome-Wide Association Study of Treatment-Resistant Depression: Shared Biology With Metabolic Traits

American Journal of Psychiatry(2024)10.1176/appi.ajp.20230247

N/A

0DataRank · unranked

23 citations

Víctor M. Castro, Michael Ripperger, Sanan Venkatesh, David Burstein, Richard Karlsson Linnér +17 more

Mapping dynamic regulation of gene expression using single-cell transcriptomics and application to complex disease genetics

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100397

N/A

0DataRank · unranked

3 citations

P. Charles Lin, Dan Zhou, Douglas M. Ruderfer, Eric R. Gamazon, Hanna Abe

PheMIME: an interactive web app and knowledge base for phenome-wide, multi-institutional multimorbidity analysis

Journal of the American Medical Informatics Association(2024)10.1093/jamia/ocae182

N/A

0DataRank · unranked

5 citations

Nick Strayer, Tess Vessels, Karmel W. Choi, Geoffrey W Wang, Yajing Li +14 more

Evaluating the impact of modeling choices on the performance of integrated genetic and clinical models

Genetics in Medicine(2024)10.1016/j.gim.2024.101353

N/A

0DataRank · unranked

1 citations

Drew Willimitis, Michael Ripperger, Hyunjoon Lee, Yu Zhou, Lide Han +7 more

Interoperability of phenome-wide multimorbidity patterns: a comparative study of two large-scale EHR systems

medRxiv(2024)10.1101/2024.03.28.24305045

N/A

0DataRank · unranked

5 citations

Tess Vessels, Karmel W. Choi, Siwei Zhang, Yajing Li, Lide Han +21 more

Capturing Real-World Habitual Sleep Patterns With a Novel User-Centric Algorithm to Preprocess Fitbit Data in the All of Us Research Program: Retrospective Observational Longitudinal Study

Journal of Medical Internet Research(2025)10.2196/71718

N/A

0DataRank · unranked

2 citations

Jeffrey Annis, Jack Ching, Karla Gleichauf, Lide Han, Peyton L. Coleman +7 more

Beyond Carrier Status: CFTR Heterozygosity as an Overlooked Clinical Risk Factor for Pancreatitis

Clinical Genetics(2025)10.1111/cge.14780

N/A

0DataRank · unranked

1 citations

Douglas M. Ruderfer, Josh F. Peterson, Lisa A. Bastarache, Lucas Richter

Douglas M. Ruderfer

Indexed papers

Top data-sharing exemplar

Papers