Daniel G. MacArthur

Also affiliated with UNSW Sydney, Murdoch Children's Research Institute

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

94.7Author DataRank

Indexed papers

17in 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 17 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 67 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

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

Cell type–specific genetic regulation of gene expression across human tissues

Science(2020)10.1126/science.aaz8528

N/A

10.3DataRank · unranked

596 citations

François Aguet, Meritxell Oliva, Manuel Muñoz-Aguirre, Silva Kasela, Valentin Wucher +77 more

Genetic effects on gene expression across human tissues

Nature(2017)10.1038/nature24277

Top 1%

10.1DataRank

Top 1%4706 citations

Barbara E. Engelhardt, Stephen B. Montgomery, Sara Mostafavi, Ayellet V. Segrè, Hailei Zhang +227 more

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

A map of human genome variation from population-scale sequencing

Nature(2010)10.1038/nature09534

Top 2%

9.1DataRank

Top 2%8109 citations

Min Hu, Yuan Chen, Matthew N. Bainbridge, Richard M. Durbin, Si Quang Le +319 more

The impact of sex on gene expression across human tissues

Science(2020)10.1126/science.aba3066

N/A

9.0DataRank · unranked

727 citations

Manuel Muñoz-Aguirre, Sarah Kim-Hellmuth, Valentin Wucher, Ariel DH Gewirtz, Daniel J. Cotter +72 more

Determinants of telomere length across human tissues

Science(2020)10.1126/science.aaz6876

N/A

8.6DataRank · unranked

501 citations

Farzana Jasmine, Lin Chen, Meytal Chernoff, Tong Lin, Dayana Delgado +90 more

Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel

Nature Communications(2014)10.1038/ncomms4934

Top 2%

8.3DataRank

Top 2%460 citations

Jonathan Marchini, Peter Donnelly, Gerton Lunter, Jonathan L. Marchini, Simon Myers +364 more

The GTEx Consortium atlas of genetic regulatory effects across human tissues

Science(2020)10.1126/science.aaz1776

Top 2%

8.0DataRank

Top 2%5930 citations

Shankara Anand, Kristin G. Ardlie, Stacey Gabriel, Gad Getz, Aaron Graubert +95 more

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Nature Communications(2015)10.1038/ncomms9111

Top 3%

6.7DataRank

Top 3%386 citations

Bryan Howie, Shane McCarthy, Yasin Memari, Klaudia Walter, Josine L. Min +234 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

Transcriptome variation in human tissues revealed by long-read sequencing

Nature(2022)10.1038/s41586-022-05035-y

N/A

6.6DataRank · unranked

320 citations

Garrett Garborcauskas, Paul Hoffman, Nava Ehsan, Lihua Jiang, Alper Gokden +19 more

The Genotype-Tissue Expression (GTEx) project

Nature Genetics(2013)10.1038/ng.2653

Top 3%

6.0DataRank

Top 3%10097 citations

Mike Salvatore, Rebecca Phillips, Bernadette Mestichelli, Saboor Shad, Richard Hasz +144 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

A Quantitative Proteome Map of the Human Body

Cell(2020)10.1016/j.cell.2020.08.036

Top 4%

5.1DataRank

Top 4%487 citations

Meng Wang, Shin Lin, Ruiqi Jian, Xiao Li, Joanne Chan +95 more

Transcriptomic signatures across human tissues identify functional rare genetic variation

Science(2020)10.1126/science.aaz5900

N/A

5.0DataRank · unranked

166 citations

Benjamin J. Strober, Jonah Einson, Nathan S. Abell, François Aguet, Alvaro N. Barbeira +183 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

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

A vast resource of allelic expression data spanning human tissues

Genome Biology(2020)10.1186/s13059-020-02122-z

Top 8%

2.7DataRank

Top 8%147 citations

François Aguet, Pejman Mohammadi, Kristin G. Ardlie, Anthony Philippakis, Leanne Haggerty +159 more

An open resource of structural variation for medical and population genetics

bioRxiv (Cold Spring Harbor Laboratory)(2019)10.1101/578674

Top 9%

2.2DataRank

Top 9%44 citations

Harrison Brand, Konrad J. Karczewski, Xuefang Zhao, Jessica Alföldi, Laurent C. Francioli +37 more

Landscape of X chromosome inactivation across human tissues

bioRxiv (Cold Spring Harbor Laboratory)(2016)10.1101/073957

N/A

1.6DataRank · unranked

52 citations

Angela Yen, Manuel A. Rivas, Jamie L. Marshall, Rahul Satija, Laura Gauthier +17 more

Transcriptome variation in human tissues revealed by long-read sequencing

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.01.22.427687

Top 15%

1.4DataRank

Top 15%34 citations

Garrett Garborcauskas, Paul Hoffman, Nava Ehsan, Lihua Jiang, Alper Gokden +19 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

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

Science(2012)10.1126/science.1215040

N/A

1.1DataRank · unranked

1321 citations

Suganthi Balasubramanian, Michael G. FitzGerald, Ni Huang, James Morris, Fred R. Hirsch +54 more

A framework for the interpretation of de novo mutation in human disease

Nature Genetics(2014)10.1038/ng.3050

N/A

1.1DataRank · unranked

1119 citations

Elise B Robinson, Stephan J. Sanders, Christine Stevens, Aniko Sabo, Lauren M. McGrath +25 more

Leveraging supervised learning for functionally-informed fine-mapping of cis-eQTLs identifies an additional 20,913 putative causal eQTLs

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.10.20.347294

N/A

0.998DataRank · unranked

22 citations

David R. Kelley, Jacob C. Ulirsch, Masahiro Kanai, Shuvom Sadhuka, Ran Cui +9 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

Erratum: Corrigendum: Landscape of X chromosome inactivation across human tissues

Nature(2018)10.1038/nature25993

N/A

0.905DataRank · unranked

15 citations

Angela Yen, Manuel A. Rivas, Jamie L. Marshall, Rahul Satija, Laura Gauthier +17 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

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

Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease

Cell(2021)10.1016/j.cell.2021.03.050

N/A

0.804DataRank · unranked

212 citations

Daniel C. Nachun, Nicole M. Ferraro, Michael J. Gloudemans, Abhiram S. Rao, Craig Smail +168 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

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

Transcript expression-aware annotation improves rare variant discovery and interpretation

bioRxiv (Cold Spring Harbor Laboratory)(2019)10.1101/554444

N/A

0.746DataRank · unranked

20 citations

Konrad J. Karczewski, Ditte Demontis, Eleanor G. Seaby, Nicholas A. Watts, Moriel Singer-Berk +14 more

Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum

The American Journal of Human Genetics(2018)10.1016/j.ajhg.2018.05.002

N/A

0.713DataRank · unranked

115 citations

F. Kyle Satterstrom, Seyedeh M. Zekavat, Indraniel Das, Mitja I Kurki, Claire Churchhouse +45 more

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

A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders

Nature Communications(2024)10.1038/s41467-024-52463-7

N/A

0.389DataRank · unranked

9 citations

Lauren J. Ayers, Michael Kosicki, Wai‐Man Chan, Lydia Fozo, Brandon M. Pratt +22 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

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

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

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

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Nature Genetics(2024)10.1038/s41588-023-01651-0

N/A

0DataRank · unranked

33 citations

Dan Cox, Irina Zaharieva, Valeria Di Leo, J. Sarparanta, Per Harald Jonson +80 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

0DataRank · unranked

24 citations

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

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone

Annals of Clinical and Translational Neurology(2024)10.1002/acn3.52041

N/A

0DataRank · unranked

23 citations

Samantha J. Bryen, Melanie Bahlo, Anita Cairns, Katherine R. Chao, Alastair Corbett +25 more

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

medRxiv(2024)10.1101/2024.04.07.24305438

N/A

0DataRank · unranked

10 citations

Ruebena Dawes, Hyung Chul Kim, Sarah L. Stenton, Susan Walker, Alicia Ljungdahl +92 more

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy

medRxiv(2024)10.1101/2024.03.29.24304673

N/A

0DataRank · unranked

2 citations

Véronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach +64 more

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders

medRxiv(2025)10.1101/2025.04.08.25325442

N/A

0DataRank · unranked

13 citations

Hyung Chul Kim, Ayanfeoluwa Adedeji, Elsa Leitão, Ruebena Dawes, Yuyang Chen +37 more

Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

medRxiv(2025)10.1101/2025.08.13.25333306

N/A

0DataRank · unranked

5 citations

Alexander J. M. Blakes, Yuyang Chen, Joachim De Jonghe, Javeria Raza Alvi, Florence Amblard +69 more

Axenfeld-Rieger syndrome associated with a megabase-scale inversion separating PITX2 from a conserved enhancer locus

medRxiv(2025)10.1101/2025.06.05.25327661

N/A

0DataRank · unranked

2 citations

Joshua M. Schmidt, Emmanuelle Souzeau, Lachlan S.W. Knight, Giorgina Maxwell, Andrew Dubowsky +9 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

Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy

European Journal of Human Genetics(2020)10.1038/s41431-020-00715-7

N/A

0DataRank · unranked

14 citations

Emily C. Oates, Frances J. Evesson, Jessica K. Lu, Leigh B. Waddell, Himanshu Joshi +7 more

Quantifying prion disease penetrance using large population control cohorts

UNC Libraries(2020)10.17615/m8r0-g416

N/A

0DataRank · unranked

1 citations

Hidehiro Mizusawa, Pamela Sklar, Nobuo Sanjo, Miguel Calero, Theo F. J. Kraus +58 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

0DataRank · unranked

12 citations

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

Biological insights from the whole genome analysis of human embryonic stem cells

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.10.26.337352

N/A

0DataRank · unranked

5 citations

Sulagna Ghosh, Giulio Genovese, Robert E. Handsaker, Seva Kashin, Konrad J. Karczewski +7 more

Insights into dispersed duplications and complex structural mutations from whole genome sequencing 706 families

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.08.03.235358

N/A

0DataRank · unranked

0 citations

Robert E. Handsaker, Giulio Genovese, Seva Kashin, Monkol Lek, Jason D. Hughes +5 more

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

UNC Libraries(2020)10.17615/tdb3-bx52

N/A

0DataRank · unranked

0 citations

Hemant Bengani, Joseph A. Marsh, Angela M. Kaindl, Koh-ichiro Yoshiura, Katharina Steindl +73 more

Leveraging supervised learning for functionally informed fine-mapping of cis-eQTLs identifies an additional 20,913 putative causal eQTLs

Nature Communications(2021)10.1038/s41467-021-23134-8

N/A

0DataRank · unranked

101 citations

David R. Kelley, Jacob C. Ulirsch, Masahiro Kanai, Shuvom Sadhuka, Ran Cui +33 more

ZBTB33 Is Mutated in Clonal Hematopoiesis and Myelodysplastic Syndromes and Impacts RNA Splicing

Blood Cancer Discovery(2021)10.1158/2643-3230.bcd-20-0224

N/A

0DataRank · unranked

44 citations

Matthew Leventhal, Elsa Bernard, Emma R. Hoppe, Gabriele Todisco, Maria Creignou +38 more

seqr : A web‐based analysis and collaboration tool for rare disease genomics

Human Mutation(2022)10.1002/humu.24366

N/A

0DataRank · unranked

112 citations

Hana Snow, Ben Weisburd, Shifa Zhang, Samantha Baxter, Stephanie DiTroia +20 more

Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation

Cell stem cell(2022)10.1016/j.stem.2022.01.011

N/A

0DataRank · unranked

61 citations

Sulagna Ghosh, Giulio Genovese, Robert E. Handsaker, Seva Kashin, Daniel Meyer +8 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

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

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

Daniel G. MacArthur

Indexed papers

Top data-sharing exemplar

Papers