Mark J. Daly

Also affiliated with University of Helsinki, Massachusetts General Hospital, Institute for Molecular Medicine Finland

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

10.7Author DataRank

Indexed papers

10in 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 10 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 first update on mapping the human genetic architecture of COVID-19

Nature(2022)10.1038/s41586-022-04826-7

Top 6%

3.5DataRank

Top 6%176 citations

Leadership, Gita A. Pathak, Juha Karjalainen, Christine Stevens, Benjamin M. Neale +86 more

Papers

Driven by 123 papers — median percentile 55. Top paper: “Genome-wide enhancer maps link risk variants to disease genes”.

Genome-wide enhancer maps link risk variants to disease genes

Nature(2021)10.1038/s41586-021-03446-x

N/A

7.7DataRank · unranked

764 citations

Drew T. Bergman, Charles P. Fulco, Philine Guckelberger, Benjamin R. Doughty, Tejal A. Patwardhan +27 more

Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains

Nature Genetics(2023)10.1038/s41588-022-01285-8

N/A

6.1DataRank · unranked

775 citations

G. Bragi Walters, Georgios Athanasiadis, Raymond K. Walters, Karen Therrien, Trine Tollerup Nielsen +81 more

Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells

Nature(2020)10.1038/s41586-020-2786-7

N/A

4.1DataRank · unranked

151 citations

Satish K. Nandakumar, Xiaotian Liao, Alexander G. Bick, Juha Karjalainen, Marcin Tabaka +79 more

Depression pathophysiology, risk prediction of recurrence and comorbid psychiatric disorders using genome-wide analyses

Nature Medicine(2023)10.1038/s41591-023-02352-1

N/A

3.6DataRank · unranked

313 citations

Mitja Kurki, Jakob Grove, Georgios Voloudakis, Karen Therrien, Elisa Tasanko +38 more

A first update on mapping the human genetic architecture of COVID-19

Nature(2022)10.1038/s41586-022-04826-7

Top 6%

3.5DataRank

Top 6%176 citations

Leadership, Gita A. Pathak, Juha Karjalainen, Christine Stevens, Benjamin M. Neale +86 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

Evolution of the ancestral mammalian karyotype and syntenic regions

Proceedings of the National Academy of Sciences(2022)10.1073/pnas.2209139119

Top 12%

1.8DataRank

Top 12%96 citations

Marco Corbo, Kim, Jaebum, Jason Turner-Maier, Marta Farré, Denis M. Larkin +87 more

Identification of shared and differentiating genetic architecture for autism spectrum disorder, attention-deficit hyperactivity disorder and case subgroups

Nature Genetics(2022)10.1038/s41588-022-01171-3

N/A

1.7DataRank · unranked

76 citations

Jakob Grove, Thomas D. Als, Joanna Martin, Georgios Voloudakis, Sandra Meier +29 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

Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains

medRxiv(2022)10.1101/2022.02.14.22270780

N/A

1.5DataRank · unranked

63 citations

G. Bragi Walters, Georgios Athanasiadis, Raymond K. Walters, Karen Therrien, Leila Farajzadeh +42 more

The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia

Nature Communications(2022)10.1038/s41467-022-31436-8

N/A

1.4DataRank · unranked

61 citations

Olli Pietiläinen, Mykyta Artomov, Matthew Tegtmeyer, Vera Valakh, Leevi Lehtonen +40 more

Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p

Nature Genetics(2022)10.1038/s41588-022-01203-y

N/A

1.3DataRank · unranked

55 citations

Emi Ling, Serkan Erdin, Derek J.C. Tai, Rachita Yadav, Jakob Grove +94 more

Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

Nature Communications(2021)10.1038/s41467-021-22339-1

N/A

1.1DataRank · unranked

51 citations

Akhil Pampana, Sarah E. Graham, Sanni Ruotsalainen, James A. Perry, Paul S. de Vries +95 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

Genome-wide association study of school grades identifies genetic overlap between language ability, psychopathology and creativity

Scientific Reports(2023)10.1038/s41598-022-26845-0

N/A

0.970DataRank · unranked

30 citations

Andrea Ganna, Jonathan R. I. Coleman, Andrea G. Allegrini, Georgios Voloudakis, Jakob Grove +48 more

Risk of Midlife Stroke After Adverse Pregnancy Outcomes: The FinnGen Study

Stroke(2023)10.1161/strokeaha.123.043052

N/A

0.706DataRank · unranked

27 citations

Anni Kauko, Sarah E. Tom, Hannele Laivuori, Teemu Niiranen, Natalie A. Bello +86 more

Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata

Nature Communications(2023)10.1038/s41467-023-35974-7

N/A

0.680DataRank · unranked

22 citations

Jaakko Tyrmi, Nilüfer Rahmioğlu, Krina T. Zondervan, Christian M. Becker, FinnGen +95 more

pH sensing controls tissue inflammation by modulating cellular metabolism and endo-lysosomal function of immune cells

Nature Immunology(2022)10.1038/s41590-022-01231-0

N/A

0.652DataRank · unranked

76 citations

Alok Jaiswal, Zachary A. Costliow, Paula Herbst, Elizabeth A. Creasey, Noriko Oshiro-Rapley +5 more

Identification of 64 new risk loci for major depression, refinement of the genetic architecture and risk prediction of recurrence and comorbidities

medRxiv(2022)10.1101/2022.08.24.22279149

N/A

0.648DataRank · unranked

12 citations

Mitja Kurki, Jakob Grove, Georgios Voloudakis, Karen Therrien, Elisa Tasanko +38 more

Genetic vulnerability to Crohn’s disease reveals a spatially resolved epithelial restitution program

Science Translational Medicine(2023)10.1126/scitranslmed.adg5252

N/A

0.507DataRank · unranked

13 citations

Chenhao Li, Toufic Mayassi, Helen Lin, Koushik Ghosh, Åsa Segerstolpe +14 more

Reduced expression of COVID-19 host receptor, ACE2 is associated with small bowel inflammation, more severe disease, and response to anti-TNF therapy in Crohn’s disease

medRxiv(2020)10.1101/2020.04.19.20070995

N/A

0.489DataRank · unranked

25 citations

Shishir Dube, Takeo Naito, Gregory J. Botwin, Talin Haritunians, Dalin Li +11 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

Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer

Research Square(2020)10.21203/rs.3.rs-100817/v1

N/A

0.436DataRank · unranked

6 citations

Seyedeh M. Zekavat, Shu‐Hong Lin, Alexander G. Bick, Aoxing Liu, Kaavya Paruchuri +26 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

Rare genetic variants confer a high risk of ADHD and implicate neuronal biology

Nature(2025)10.1038/s41586-025-09702-8

N/A

0.377DataRank · unranked

11 citations

Jinjie Duan, Yu-Han H. Hsu, Greta Pintacuda, Jakob Grove, Trine Tollerup Nielsen +29 more

Genetic contribution to disease-course severity and progression in the SUPER-Finland study, a cohort of 10,403 individuals with psychotic disorders

Molecular Psychiatry(2024)10.1038/s41380-024-02516-6

N/A

0.360DataRank · unranked

10 citations

Jaana Suvisaari, Markku Lähteenvuo, Tarjinder Singh, Ari Ahola‐Olli, Lea Urpa +33 more

Genetics and context for precision health in Greater Boston

Nature Communications(2025)10.1038/s41467-025-66598-8

Top 51%

0.345DataRank

Top 51%9 citations

Ying Wang, Kaavya Paruchuri, Md Mesbah Uddin, So Mi Jemma Cho, Sarah Urbut +16 more

Epigenetic aging of classical monocytes from healthy individuals

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.05.10.087023

Top 63%

0.217DataRank

Top 63%3 citations

Juhi Bagaitkar, Oleg Shpynov, Ekaterina Loginicheva, Sofia I. Porter, Denis A. Mogilenko +23 more

Phenome-wide association study of male and female sex chromosome trisomies in 1.5 million participants of MVP, FinnGen, and UK Biobank

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.07.017

Top 70%

0.165DataRank

Top 70%2 citations

Aoxing Liu, Craig C. Teerlink, Dana M. Lapato, Bryan R. Gorman, Giulio Genovese +18 more

Multipopulation GWAS for venous thromboembolism identifies novel loci followed by experimental validation in zebrafish

Blood Advances(2025)10.1182/bloodadvances.2024015790

N/A

0.165DataRank · unranked

2 citations

Yakun Zhao, Kuan-Han H. Wu, Xinge Yu, Catherine E. Richter, Laxmi Bhatta +17 more

Dysfunction of complement receptors CR3 (CD11b/18) and CR4 (CD11c/18) in pre‐eclampsia: a genetic and functional study

BJOG An International Journal of Obstetrics & Gynaecology(2021)10.1111/1471-0528.16660

N/A

0DataRank · unranked

19 citations

Laura Teirilä, Michael Triebwasser, Eoin Daly, Arnab Bhattacharjee, Liisa M. Uotila +12 more

Bayesian model comparison for rare-variant association studies

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.11.005

N/A

0DataRank · unranked

10 citations

Christopher DeBoever, Yosuke Tanigawa, Matthew Aguirre, Alexander Ioannidis, Hakhamanesh Mostafavi +7 more

Author Correction: Genetics of 35 blood and urine biomarkers in the UK Biobank

Nature Genetics(2021)10.1038/s41588-021-00956-2

N/A

0DataRank · unranked

14 citations

Yosuke Tanigawa, David Amar, Nina Mars, Christian Benner, Matthew Aguirre +19 more

Leveraging global multi-ancestry meta-analysis in the study of Idiopathic Pulmonary Fibrosis genetics

medRxiv(2021)10.1101/2021.12.29.21268310

N/A

0DataRank · unranked

14 citations

Paavo Häppölä, Wei Zhou, Arto Lehistö, Mari Ainola, Eva Sutinen +17 more

Set-based rare variant association tests for biobank scale sequencing data sets

medRxiv(2021)10.1101/2021.07.12.21260400

N/A

0DataRank · unranked

7 citations

Wenjian Bi, Zhangchen Zhao, Kushal K. Dey, Karthik A. Jagadeesh, Konrad J. Karczewski +4 more

Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.05.19.444732

N/A

0DataRank · unranked

5 citations

Shareefa Dalvie, Yakov Pichkar, Allan Kalungi, Lerato Majara, Anne Stevenson +38 more

Integrated Analyses of Growth Differentiation Factor-15 Concentration and Cardiometabolic Diseases in Humans

medRxiv(2021)10.1101/2021.12.15.21267719

N/A

0DataRank · unranked

1 citations

Eleanor M. Wigmore, Christian Benner, Aki S. Havulinna, Rachel M. Y. Ong, Tibor Kempf +14 more

SAIGE-GENE+ improves the efficiency and accuracy of set-based rare variant association tests

Nature Genetics(2022)10.1038/s41588-022-01178-w

N/A

0DataRank · unranked

145 citations

Wenjian Bi, Zhangchen Zhao, Kushal K. Dey, Karthik A. Jagadeesh, Konrad J. Karczewski +4 more

Multi-ancestry meta-analysis of asthma identifies novel associations and highlights the value of increased power and diversity

Cell Genomics(2022)10.1016/j.xgen.2022.100212

N/A

0DataRank · unranked

115 citations

Wei Zhou, Ying Wang, Masahiro Kanai, Shinichi Namba, Rahul Gupta +8 more

Leveraging global multi-ancestry meta-analysis in the study of idiopathic pulmonary fibrosis genetics

Cell Genomics(2022)10.1016/j.xgen.2022.100181

N/A

0DataRank · unranked

56 citations

Paavo Häppölä, Wei Zhou, Arto Lehistö, Mari Ainola, Eva Sutinen +22 more

Efficient and accurate frailty model approach for genome-wide survival association analysis in large-scale biobanks

Nature Communications(2022)10.1038/s41467-022-32885-x

N/A

0DataRank · unranked

46 citations

Wei Zhou, Tuomo Kiiskinen, Aki S. Havulinna, Amanda Elliott, Juha Karjalainen +9 more

Delineation of functionally essential protein regions for 242 neurodevelopmental genes

Brain(2022)10.1093/brain/awac381

N/A

0DataRank · unranked

17 citations

Tobias Brünger, Eduardo Pérez‐Palma, Marie Macnee, Andreas Brunklaus, Mark J. Daly +5 more

Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.07.013

N/A

0DataRank · unranked

28 citations

Shareefa Dalvie, Yakov Pichkar, Allan Kalungi, Lerato Majara, Anne Stevenson +37 more

A Chromosome-Length Reference Genome for the Endangered Pacific Pocket Mouse Reveals Recent Inbreeding in a Historically Large Population

Genome Biology and Evolution(2022)10.1093/gbe/evac122

N/A

0DataRank · unranked

17 citations

Olga Dudchenko, Caitlin Curry, Marisa L. Korody, Sheela P. Turbek, Mark J. Daly +11 more

A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development

European Journal of Human Genetics(2022)10.1038/s41431-022-01046-5

N/A

0DataRank · unranked

16 citations

Lea Urpa, Bishwa Ghimire, Hande Topa, Mitja Kurki, Maryna Koskela +15 more

Identifying Novel Genes and Variants in Immune and Coagulation Pathways Associated with Macular Degeneration

Ophthalmology Science(2022)10.1016/j.xops.2022.100206

N/A

0DataRank · unranked

8 citations

Shun-Yun Cheng, Bo Tian, Claudio Punzo, Haijiang Lin, Mark J. Daly +2 more

Meta-analysis fine-mapping is often miscalibrated at single-variant resolution

medRxiv(2022)10.1101/2022.03.16.22272457

N/A

0DataRank · unranked

48 citations

Roy Elzur, Wei Zhou, Global Biobank Meta-analysis Initiative, Mark J. Daly, Hilary K. Finucane +1 more

Multi-ancestry meta-analysis identifies 2 novel loci associated with ischemic stroke and reveals heterogeneity of effects between sexes and ancestries

medRxiv(2022)10.1101/2022.02.28.22271647

N/A

0DataRank · unranked

18 citations

Kuan-Han H. Wu, Whitney Hornsby, Brooke N. Wolford, Fred Shen, Wei Zhou +17 more

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Nature Genetics(2023)10.1038/s41588-023-01485-w

N/A

0DataRank · unranked

217 citations

Ciarán Campbell, Siwei Chen, Bassel Abou‐Khalil, Oluyomi M. Adesoji, Zaid Afawi +95 more

Improving fine-mapping by modeling infinitesimal effects

Nature Genetics(2023)10.1038/s41588-023-01597-3

N/A

0DataRank · unranked

68 citations

Roy Elzur, Masahiro Kanai, Jacob C. Ulirsch, Omer Weissbrod, Mark J. Daly +4 more

The impact of rare protein coding genetic variation on adult cognitive function

Nature Genetics(2023)10.1038/s41588-023-01398-8

N/A

0DataRank · unranked

65 citations

Ruoyu Tian, Tian Ge, Max Lam, Gabriela Sánchez-Andrade, Tarjinder Singh +76 more

Mapping the dynamic genetic regulatory architecture of HLA genes at single-cell resolution

Nature Genetics(2023)10.1038/s41588-023-01586-6

N/A

0DataRank · unranked

43 citations

Amber Shen, Saisriram Gurajala, Aparna Nathan, Laurie Rumker, Vitor R. C. Aguiar +95 more

Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome

Translational Psychiatry(2023)10.1038/s41398-023-02341-5

N/A

0DataRank · unranked

26 citations

Tyne W. Miller‐Fleming, Apostolia Topaloudi, Dongmei Yu, Petros Drineas, Marianthi Georgitsi +89 more

Multi-ancestry meta-analysis identifies 5 novel loci for ischemic stroke and reveals heterogeneity of effects between sexes and ancestries

Cell Genomics(2023)10.1016/j.xgen.2023.100345

N/A

0DataRank · unranked

22 citations

Kuan-Han Wu, Whitney Hornsby, Brooke N. Wolford, Fred Shen, Wei Zhou +16 more

Identification of complement factor H variants that predispose to pre‐eclampsia: A genetic and functional study

BJOG An International Journal of Obstetrics & Gynaecology(2023)10.1111/1471-0528.17529

N/A

0DataRank · unranked

21 citations

Zhen Ren, Michael Triebwasser, Emma Daly, Finnpec, Markus Perola +9 more

Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients

Nature Communications(2023)10.1038/s41467-023-37849-3

N/A

0DataRank · unranked

18 citations

Kyle Gettler, Meltem Ece Kars, Mamta Giri, Dalin Li, Çiğdem Sevim Bayrak +26 more

CHARR efficiently estimates contamination from DNA sequencing data

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.10.011

N/A

0DataRank · unranked

10 citations

Laura D. Gauthier, Timothy Poterba, Edoardo Giacopuzzi, Julia K. Goodrich, Christine Stevens +5 more

Profiling the inflammatory bowel diseases using genetics, serum biomarkers, and smoking information

iScience(2023)10.1016/j.isci.2023.108053

N/A

0DataRank · unranked

7 citations

Dalin Li, Talin Haritunians, Yunfeng Ruan, Mark J. Daly, Hailiang Huang +2 more

Mendelian Randomization Analysis reveals Inverse Genetic Risks between Skin Cancers and Vitiligo

JID Innovations(2023)10.1016/j.xjidi.2023.100217

N/A

0DataRank · unranked

5 citations

Ivan Molotkov, Nikolai Klebanov, Michael F. Shaughnessy, Mark J. Daly, Mykyta Artomov +2 more

Decoding Genetics, Ancestry, and Geospatial Context for Precision Health

medRxiv(2023)10.1101/2023.10.24.23297096

N/A

0DataRank · unranked

24 citations

Ying Wang, Kaavya Paruchuri, Md Mesbah Uddin, So Mi Jemma Cho, Sarah Urbut +12 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

Distinct and shared genetic architectures of Gestational diabetes mellitus and Type 2 Diabetes Mellitus

medRxiv(2023)10.1101/2023.02.16.23286014

N/A

0DataRank · unranked

10 citations

Raymond K. Walters, Matti Pirinen, Mitja Kurki, Nella Junna, Jonathan T. Goldstein +9 more

Mapping the dynamic genetic regulatory architecture of HLA genes at single-cell resolution

medRxiv(2023)10.1101/2023.03.14.23287257

N/A

0DataRank · unranked

10 citations

Amber Shen, Saori Sakaue, Yang Luo, Saisriram Gurajala, Aparna Nathan +23 more

Metabolome-wide Mendelian randomization characterizes heterogeneous and shared causal effects of metabolites on human health

medRxiv(2023)10.1101/2023.06.26.23291721

N/A

0DataRank · unranked

8 citations

Jack Li, Debraj Bose, Jeffrey Okamoto, Annie Kwon, Anne Jackson +14 more

Population analyses of mosaic X chromosome loss identify genetic drivers and widespread signatures of cellular selection

medRxiv(2023)10.1101/2023.01.28.23285140

N/A

0DataRank · unranked

7 citations

Giulio Genovese, Yajie Zhao, Matti Pirinen, Maryam M. Zekavat, Katherine A. Kentistou +39 more

Polygenic risk scores as a marker for epilepsy risk across lifetime and after unspecified seizure events

medRxiv(2023)10.1101/2023.11.27.23297542

N/A

0DataRank · unranked

4 citations

Fanny‐Dhelia Pajuste, Julian Wanner, Jennifer I. Daniel Onwuchekwa, Reedik Mägi, Aarno Palotie +3 more

CHARR efficiently estimates contamination from DNA sequencing data

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.06.28.545801

N/A

0DataRank · unranked

3 citations

Laura D. Gauthier, Timothy Poterba, Edoardo Giacopuzzi, Julia K. Goodrich, Christine Stevens +5 more

CR1 variants contribute to FSGS susceptibility across multiple populations

medRxiv(2023)10.1101/2023.11.20.23298462

N/A

0DataRank · unranked

2 citations

Zora Modrušan, Alexander A. Loboda, Jeffrey B. Kopp, Cheryl A. Winkler, Alexey Sergushichev +6 more

Pregnancy-Associated Bleeding and Genetics: Five Sequence Variants in the Myometrium and Progesterone Signaling Pathway are associated with postpartum hemorrhage

medRxiv(2023)10.1101/2023.08.10.23293932

N/A

0DataRank · unranked

1 citations

Valgerður Steinthórsdóttir, Lilja Stefánsdóttir, Palle Duun Rohde, Xiaoping Wu, Frank Geller +37 more

Distinct and shared genetic architectures of gestational diabetes mellitus and type 2 diabetes

Nature Genetics(2024)10.1038/s41588-023-01607-4

N/A

0DataRank · unranked

82 citations

Raymond K. Walters, Matti Pirinen, Mitja Kurki, Nella Junna, Jacqueline I. Goldstein +23 more

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

Nature Neuroscience(2024)10.1038/s41593-024-01747-8

N/A

0DataRank · unranked

58 citations

Siwei Chen, Bassel Abou‐Khalil, Zaid Afawi, Quratulain Zulfiqar Ali, Elisabetta Amadori +95 more

Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience

Nature Genetics(2024)10.1038/s41588-024-01975-5

N/A

0DataRank · unranked

51 citations

Joel Rämö, Daria R. Kramarenko, Leonoor F. J. M. Wijdeveld, Jan Haas, Mark Chaffin +55 more

Polygenic risk scores as a marker for epilepsy risk across lifetime and after unspecified seizure events

Nature Communications(2024)10.1038/s41467-024-50295-z

N/A

0DataRank · unranked

25 citations

Fanny‐Dhelia Pajuste, Julian Wanner, Jennifer I. Daniel Onwuchekwa, Reedik Mägi, Aarno Palotie +4 more

Thrombosis risk in single- and double-heterozygous carriers of factor V Leiden and prothrombin G20210A in FinnGen and the UK Biobank

Blood(2024)10.1182/blood.2023023326

N/A

0DataRank · unranked

24 citations

Joel Rämö, Sean J. Jurgens, Teemu Niiranen, Simone Sanna‐Cherchi, Kenneth A. Bauer +7 more

Oral and non-oral lichen planus show genetic heterogeneity and differential risk for autoimmune disease and oral cancer

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.04.020

N/A

0DataRank · unranked

17 citations

Mari Vehviläinen, Shuang Luo, Jarmo Ritari, Juha Karjalainen, Javier Gracia‐Tabuenca +14 more

Public platform with 39,472 exome control samples enables association studies without genotype sharing

Nature Genetics(2024)10.1038/s41588-023-01637-y

N/A

0DataRank · unranked

13 citations

Alexander Loboda, Maxim N. Artyomov, Mark J. Daly, Mykyta Artomov

Genome-wide association meta-analysis identifies five loci associated with postpartum hemorrhage

Nature Genetics(2024)10.1038/s41588-024-01839-y

N/A

0DataRank · unranked

10 citations

Valgerður Steinthórsdóttir, Lilja Stefánsdóttir, Palle Duun Rohde, Xiaoping Wu, Frank Geller +37 more

Genetic and functional analysis of Raynaud’s syndrome implicates loci in vasculature and immunity

Cell Genomics(2024)10.1016/j.xgen.2024.100630

N/A

0DataRank · unranked

5 citations

Markus Ramste, Erik Abner, Paul Cheng, Jacqueline M. Lane, Matthew Maher +24 more

Risk and protection of different rare protein-coding variants of complement component C4A in age-related macular degeneration

Frontiers in Genetics(2024)10.3389/fgene.2023.1274743

N/A

0DataRank · unranked

2 citations

Dikha De, William Casazza, Shun-Yun Cheng, Claudio Punzo, Mark J. Daly +5 more

Pan-UK Biobank GWAS improves discovery, analysis of genetic architecture, and resolution into ancestry-enriched effects

medRxiv(2024)10.1101/2024.03.13.24303864

N/A

0DataRank · unranked

173 citations

Rahul Gupta, Masahiro Kanai, Wenhan Lu, Kristin Tsuo, Ying Wang +24 more

Cystic fibrosis risk variants confer protection against inflammatory bowel disease

medRxiv(2024)10.1101/2024.12.02.24318364

N/A

0DataRank · unranked

3 citations

Qian Zhang, Kai Yuan, Aleksejs Sazonovs, Christine Stevens, Laura Fachal +4 more

Rare variants in genes coding for components of the terminal pathway of the complement system in preeclampsia

Research Square(2024)10.21203/rs.3.rs-4121735/v1

N/A

0DataRank · unranked

1 citations

Michael Triebwasser, Emma Daly, FINNPEC COHORT, M. Kurki, Markus Perola +8 more

Mapping and characterization of structural variation in 17,795 human genomes

UNC Libraries(2024)10.17615/bjv3-ys88

Top 100%

0DataRank

Top 100%0 citations

S.S. Rich, Elizabeth L. Appelbaum, Ryan M. Layer, Subra Kugathasan, Scott M. Damrauer +95 more

A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease

PLoS Genetics(2020)10.1371/journal.pgen.1008629

N/A

0DataRank · unranked

169 citations

Mary E. Haas, Amit V. Khera, Krishna G. Aragam, Mark Chaffin, Derek Klarin +37 more

Loss of CFHR5 function reduces the risk for age-related macular degeneration

Nature Communications(2025)10.1038/s41467-025-61193-3

N/A

0DataRank · unranked

6 citations

Stephanie Loomis, Eija Nissilä, Thomas W. Soare, Tobias Rausch, Zhili Zheng +16 more

Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders

Science Translational Medicine(2025)10.1126/scitranslmed.adr0024

N/A

0DataRank · unranked

3 citations

Lei Cui, Nikita Budnik, Siwei Chen, Erick Olivares, David Báez-Nieto +14 more

Autoimmune disease risk gene ANKRD55 promotes TH17 effector function through metabolic modulation

The Journal of Experimental Medicine(2025)10.1084/jem.20250185

N/A

0DataRank · unranked

1 citations

Lingjia Kong, Elizabeth A. Creasey, Sneha Rath, Lei Deng, Julián Ávila-Pacheco +11 more

Proteomic prediction of disease largely reflects environmental risk exposure

medRxiv(2025)10.1101/2025.08.27.25334571

N/A

0DataRank · unranked

3 citations

M. Austin Argentieri, Danni A. Gadd, Mitja Kurki, Zhili Zheng, Denis Baird +8 more

Prevalence and disease risks for male and female sex chromosome trisomies: a registry-based phenome-wide association study in 1.5 million participants of MVP, FinnGen, and UK Biobank

medRxiv(2025)10.1101/2025.01.31.25321488

N/A

0DataRank · unranked

1 citations

Aoxing Liu, Craig C. Teerlink, Dana M. Lapato, Bryan R. Gorman, Giulio Genovese +20 more

Genetic association of preeclampsia to von Willebrand factor and its size-regulator ADAMTS13

Research Square(2025)10.21203/rs.3.rs-5685318/v1

N/A

0DataRank · unranked

1 citations

Michael Triebwasser, Emma Daly, Mitja Kurki, Markus Perola, Kirsi Auro +11 more

Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.04.23.650298

N/A

0DataRank · unranked

0 citations

Lei Cui, Nikita Budnik, Siwei Chen, Erick Olivares, David Báez-Nieto +11 more

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases

medRxiv(2025)10.1101/2025.07.11.25331388

N/A

0DataRank · unranked

0 citations

Jean‐Christophe Grenier, Justin Pelletier, Gabrielle Boucher, Geneviève Gagnon, Philippe Goyette +13 more

Genome-wide association study of proteomic aging reveals shared genetic architectures with longevity, early life development, and age-related diseases

medRxiv(2025)10.64898/2025.12.03.25341518

N/A

0DataRank · unranked

0 citations

Robert Loughnan, Ying Wang, Calwing Liao, Baihan Wang, William Cheng +16 more

Rare genetic variation in PTPRB is associated with central serous chorioretinopathy, varicose veins and glaucoma

Nature Communications(2025)10.1038/s41467-025-58686-6

N/A

0DataRank · unranked

11 citations

Bryan R. Gorman, Lu‐Chen Weng, Sean J. Jurgens, Panisa Singhanetr, Marisa G. Tieger +28 more

GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer

Nature Communications(2020)10.1038/s41467-020-17718-z

N/A

0DataRank · unranked

141 citations

Ben Brumpton, Ömer Kabil, Jūlı́us Guðmundsson, Guðmar Þorleifsson, Joshua S. Weinstock +51 more

Common and Rare Variant Prediction and Penetrance of IBD in a Large, Multi-ethnic, Health System-based Biobank Cohort

Gastroenterology(2020)10.1053/j.gastro.2020.12.034

N/A

0DataRank · unranked

90 citations

Rachel Levantovsky, Arden Moscati, Mamta Giri, Yiming Wu, Nai-Yun Hsu +17 more

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects

Brain(2020)10.1093/brain/awaa171

N/A

0DataRank · unranked

81 citations

Eduardo Pérez‐Palma, Daniel P. Howrigan, Yadi Zhou, Feixiong Cheng, Elmo Saarentaus +86 more

Population Histories of the United States Revealed through Fine-Scale Migration and Haplotype Analysis

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.02.002

N/A

0DataRank · unranked

71 citations

Mohammad M. Vazifeh, Chen‐Hsiang Yeang, Remi Tachet, R. Spencer Wells, Miguel G. Vilar +4 more

Altered Intestinal ACE2 Levels Are Associated With Inflammation, Severe Disease, and Response to Anti-Cytokine Therapy in Inflammatory Bowel Disease

Gastroenterology(2020)10.1053/j.gastro.2020.10.041

N/A

0DataRank · unranked

72 citations

Shishir Dube, Takeo Naito, Katherine Li, Gregory J. Botwin, Talin Haritunians +14 more

Whole exome sequencing analyses reveal gene–microbiota interactions in the context of IBD

Gut(2020)10.1136/gutjnl-2019-319706

N/A

0DataRank · unranked

55 citations

Arnau Vich Vila, Ranko Gaćeša, Valerie Collij, Christine Stevens, Jack Fu +17 more

A missense variant in SLC39A8 confers risk for Crohn’s disease by disrupting manganese homeostasis and intestinal barrier integrity

Proceedings of the National Academy of Sciences(2020)10.1073/pnas.2014742117

N/A

0DataRank · unranked

55 citations

Elizabeth A. Creasey, Motohiko Kadoki, Helen Lin, Martin K. Selig, Junmei Yao +5 more

Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma

PLoS Genetics(2020)10.1371/journal.pgen.1008682

N/A

0DataRank · unranked

53 citations

Michael Wainberg, Juha Karjalainen, Tuomo Kiiskinen, Guhan Venkataraman, Susanna Lemmelä +9 more

Prevalence and Effect of Genetic Risk of Thromboembolic Disease in Inflammatory Bowel Disease

Gastroenterology(2020)10.1053/j.gastro.2020.10.019

N/A

0DataRank · unranked

16 citations

Gregory J. Botwin, Talin Haritunians, Dalin Li, Shaohong Yang, Michelle Khrom +14 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

An efficient and accurate frailty model approach for genome-wide survival association analysis controlling for population structure and relatedness in large-scale biobanks

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.10.31.358234

N/A

0DataRank · unranked

12 citations

Wei Zhou, Tuomo Kiiskinen, Aki S. Havulinna, Amanda Elliott, Juha Karjalainen +9 more

Polygenic risk, susceptibility genes, and breast cancer over the life course

medRxiv(2020)10.1101/2020.04.17.20069229

N/A

0DataRank · unranked

11 citations

Elisabeth Widén, Sini Kerminen, Tuomo J Meretoja, Matti Pirinen, Priit Palta +7 more

Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.04.27.064832

N/A

0DataRank · unranked

11 citations

Elizabeth G. Atkinson, Sinéad B. Chapman, Anne Stevenson, Rocky E. Stroud, Tamrat Abebe +34 more

High heritability of ascending aortic diameter and multi-ethnic prediction of thoracic aortic disease.

medRxiv(2020)10.1101/2020.05.29.20102335

N/A

0DataRank · unranked

9 citations

Ke Xiao, Heliodoro Tejeda, Julie A. Lynch, Sanni Ruotsalainen, Tiffany R. Bellomo +17 more

Genome-wide Screen of Otosclerosis in Population Biobanks: 18 Loci and Shared Heritability with Skeletal Structure

medRxiv(2020)10.1101/2020.11.15.20227868

N/A

0DataRank · unranked

4 citations

Tuomo Kiiskinen, Juha Karjalainen, Kristi Krebs, Mitja Kurki, Aki S. Havulinna +17 more

Identifying novel high-impact rare disease-causing mutations, genes and pathways in exomes of Ashkenazi Jewish inflammatory bowel disease patients

medRxiv(2020)10.1101/2020.07.01.20143750

N/A

0DataRank · unranked

0 citations

Kyle Gettler, Mamta Giri, Dalin Li, Çiğdem Sevim Bayrak, Aayushee Jain +21 more

A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease.

Apollo (University of Cambridge)(2020)10.17863/cam.52580

N/A

0DataRank · unranked

0 citations

Mary E. Haas, Amit V. Khera, Krishna G. Aragam, Mark Chaffin, Derek Klarin +37 more

zCall: a rare variant caller for array-based genotyping

UNC Libraries(2020)10.17615/2r6r-p404

N/A

0DataRank · unranked

0 citations

George Grant, Jared Maguire, Shaun Purcell, Jennifer L. Moran, Christine Stevens +12 more

Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes

UNC Libraries(2020)10.17615/55vz-3f21

N/A

0DataRank · unranked

0 citations

Richard N. Bergman, Katherine S. Elliott, Harald Grallert, Eleftheria Zeggini, Peter Almgren +27 more

Association of Exome Sequences With Cardiovascular Traits among Blacks in the Jackson Heart Study

UNC Libraries(2020)10.17615/a9gj-5z87

N/A

0DataRank · unranked

0 citations

Alex P. Reiner, Mark J. Daly, James G. Wilson, Hao Mei, Joshua D. Smith +14 more

Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion

UNC Libraries(2020)10.17615/63sx-0c91

N/A

0DataRank · unranked

0 citations

Mark J. Daly, Johanna Kuusisto, Francis S. Collins, Markku Laakso, Kimberly F. Doheny +24 more

Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases

UNC Libraries(2020)10.17615/vqrj-3e30

N/A

0DataRank · unranked

0 citations

Patrick F. Sullivan, Chongzhi Zang, David Collier, Hailiang Huang, Eli A. Stahl +24 more

Genetics of 35 blood and urine biomarkers in the UK Biobank

Nature Genetics(2021)10.1038/s41588-020-00757-z

N/A

0DataRank · unranked

803 citations

Yosuke Tanigawa, David Amar, Nina Mars, Christian Benner, Matthew Aguirre +19 more

Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection

Nature Medicine(2021)10.1038/s41591-021-01371-0

N/A

0DataRank · unranked

193 citations

Shu‐Hong Lin, Alexander G. Bick, Aoxing Liu, Kaavya Paruchuri, Chen Wang +95 more

Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.03.012

N/A

0DataRank · unranked

126 citations

Elizabeth G. Atkinson, Sinéad B. Chapman, Anne Stevenson, Rocky E. Stroud, Tamrat Abebe +34 more

Investigating Shared Genetic Basis Across Tourette Syndrome and Comorbid Neurodevelopmental Disorders Along the Impulsivity-Compulsivity Spectrum

Biological Psychiatry(2021)10.1016/j.biopsych.2020.12.028

N/A

0DataRank · unranked

104 citations

Hanrui Wu, Phil H. Lee, Fotis Tsetsos, Lea K. Davis, Dongmei Yu +20 more

SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues

Cell Reports(2021)10.1016/j.celrep.2021.110020

N/A

0DataRank · unranked

47 citations

Jennifer Nguyen, Timothy D. Arthur, Hiroko Matsui, Agnieszka D’Antonio‐Chronowska, Kelly A. Frazer +85 more

Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.02.001

N/A

0DataRank · unranked

44 citations

Sini Nagpal, Suresh Venkateswaran, David J. Cutler, David T. Okou, Talin Haritunians +53 more

Functional screen of inflammatory bowel disease genes reveals key epithelial functions

Genome Medicine(2021)10.1186/s13073-021-00996-7

N/A

0DataRank · unranked

39 citations

Gabrielle Boucher, Jean Paquette, Hugues Gosselin, Azadeh Alikashani, Nicolas Morin +27 more

Mark J. Daly

Indexed papers

Top data-sharing exemplar

Papers