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Mark J. Daly

University of Helsinki

224H-index
1.2KPaper Count
40.9WCitation Count
Published Papers 477
Publication Date
PGS Browser: a public platform for personalized polygenic score analysis and interpretation
err2026-06-20
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errNikita Kolosov; Mary P. Reeve; Pietro Della Briotta Parolo; Mitja I. Kurki; Vincent Llorens; Timo Petteri Sipila; Adam Herman; Ivan Molotkov; Mervi Aavikko; Samuli Ripatti; Aarno Palotie; Mark J. Daly; Mykyta Artomov
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Genome-wide meta-analysis identifies genetic drivers of bile acid metabolism in intrahepatic cholestasis of pregnancy
err2026-05-25
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errJaakko S. Tyrmi; Juha Karjalainen; Samvida S. Venkatesh; Clara Benoit-Pilven; Susanna M. Lemmelä; Søren Brunak; Bitten Aagaard; Mie T. Bruun; Christian Erikstrup; Henrik Ullum; Ole B. Pedersen; Karina Banasik; Erik Sørensen; Christina Mikkelsen; Michael Schwinn; Arni Sturluson; Sisse R. Ostrowski; Johannes Kettunen; Henriette Svarre Nielsen; Mette Nyegaard; David Westergaard; Thorunn Rafnar; Patrick Sulem; Kari Stefansson; Priit Palta; Triin Laisk; Taru Tukiainen; Cecilia M. Lindgren; Mark Daly; Aki S. Havulinna; Hannele M. Laivuori
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Genetic variants affect diurnal glucose levels throughout the day
err2026-05-22
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errNasa Sinnott-Armstrong; Satu Strausz; Lea Urpa; Erik Abner; Josephine P. Johnson; Jesse Valliere; Teele Palumaa; Priit Palta; Hassan S. Dashti; Kyong-Mi Chang; Marijana Vujkovic; Mark Daly; Jonathan K. Pritchard; Richa Saxena; Samuel E. Jones; Hanna M. Ollila
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Deleterious coding variation associated with autism is shared across ancestries
err2026-03-30
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errMarina Natividad Avila; Seulgi Jung; F. Kyle Satterstrom; Jack M. Fu; Tess Levy; Laura G. Sloofman; Lambertus Klei; Thariana Pichardo; Dalia Marquez; Christine R. Stevens; Caroline M. Cusick; Jennifer L. Ames; Gabriele S. Campos; Hilda Cerros; Roberto Chaskel; Claudia I. S. Costa; Michael L. Cuccaro; Andrea del Pilar Lopez; Magdalena Fernandez; Eugenio Ferro; Liliana Galeano; Ana Cristina D. E. S. Girardi; Anthony J. Griswold; Luis C. Hernandez; Naila Lourenço; Yunin Ludena; Diana Núñez-Ríos; Rosa Oyama; Katherine P. Peña; Isaac Pessah; Rebecca Schmidt; Holly M. Sweeney; Lizbeth Tolentino; Jaqueline Y. T. Wang; Lilia Albores-Gallo; Lisa A. Croen; Carlos S. Cruz-Fuentes; Irva Hertz-Picciotto; Alexander Kolevzon; Maria Claudia Lattig; Liliana Mayo; Maria Rita Passos-Bueno; Margaret A. Pericak-Vance; Paige M. Siper; Flora Tassone; M. Pilar Trelles; Michael E. Talkowski; Mark J. Daly; Behrang Mahjani; Silvia De Rubeis; Edwin H. Cook; Kathryn Roeder; Catalina Betancur; Bernie Devlin; Joseph D. Buxbaum
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Genetic regulation across germline and somatic variation on the Y chromosome contributes to type 2 diabetes
err2026-02-23
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errGo Sato; Yuji Yamamoto; Kyuto Sonehara; Ryunosuke Saiki; Takafumi Ojima; Masahiro Kanai; Aoxing Liu; Ryuya Edahiro; Yuya Shirai; Shinichi Namba; Ho Namkoong; Takanori Hasaegawa; Yuriko N. Koyanagi; Yumiko Kasugai; Taiki Yamaji; Shiori Nakano; Giulio Genovese; Timo P. Sipilä; Awaisa Ghazal; Hiromu Tanaka; Shuhei Azekawa; Yoshifumi Uwamino; Kenichi Yamamoto; Ken Suzuki; Tsuyoshi Hata; Mamoru Uemura; Yoshito Takeda; Akinori Kanai; Shinichi Higashiue; Shuzo Kobayashi; Hisaaki Afuso; Kosho Matsuura; Yojiro Mitsumoto; Yasuhiko Fujita; Yoshiya Oda; Yutaka Suzuki; Takayuki Morisaki; Makoto Ishii; Yuko Kitagawa; Ryuji Koike; Akinori Kimura; Seiya Imoto; Satoru Miyano; Takanori Kanai; Jun Takayama; Motoki Iwasaki; Norie Sawada; Koichi Fukunaga; Keitaro Matsuo; Atsushi Kumanogoh; Yuichiro Doki; Hidetoshi Eguchi; Shigeki Nakagome; Gen Tamiya; Andrea Ganna; Aarno Palotie; Mark J. Daly; James F. Wilson; Masayuki Yamamoto; Koichi Matsuda; Seishi Ogawa; Toshimasa Yamauchi; Takashi Kadowaki; Yukinori Okada
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Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases
err2026-02-05
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errSamantha L. White; Maizy S. Brasher; Jack Pattee; Wei Zhou; Sinéad Chapman; Yon Ho Jee; Caitlin C. Bell; Taylor L. Jamil; Martin Barrio; Christopher H. Arehart; Luke M. Evans; Jibril Hirbo; Nancy J. Cox; Peter Straub; Shinichi Namba; Emily Bertucci-Richter; Lindsay Guare; Ahmed Edris; Sam Morris; Ashley J. Mulford; Haoyu Zhang; Brian Fennessy; Martin D. Tobin; Jing Chen; Alexander T. Williams; Catherine John; David A. van Heel; Rohini Mathur; Sarah Finer; Marta R. Moksnes; Ben M. Brumpton; Bjørn Olav Åsvold; Raitis Peculis; Vita Rovite; Ilze Konrade; Ying Wang; Kristy Crooks; Sameer Chavan; Matthew J. Fisher; Nicholas Rafaels; Meng Lin; Jonathan A. Shortt; Alan R. Sanders; David C. Whiteman; Stuart MacGregor; Sarah E. Medland; Unnur Thorsteinsdóttir; Kári Stefánsson; Tugce Karaderi; Kathleen M. Egan; Therese Bocklage; Hilary C. McCrary; Gregory Riedlinger; Bodour Salhia; Craig Shriver; Minh D. Phan; Janice L. Farlow; Stephen Edge; Varinder Kaur; Michelle L. Churchman; Robert J. Rounbehler; Pamela L. Brock; Matthew D. Ringel; Milton Pividori; Rebecca Schweppe; Christopher D. Raeburn; Robin G. Walters; Zhengming Chen; Liming Li; Koichi Matsuda; Yukinori Okada; Sebastian Zöllner; Anurag Verma; Michael H. Preuss; Eimear Kenny; Audrey E. Hendricks; Lauren Fishbein; Peter Kraft; Mark J. Daly; Benjamin M. Neale; Alicia R. Martin; Joanne B. Cole; Bryan R. Haugen; Christopher R. Gignoux; Nikita Pozdeyev
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Cost-effective non-additive GWAS across 2329 diseases in 500,349 individuals
err2025-12-13
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errIvan Molotkov; Mitja Kurki; Aarno Palotie; Mark J. Daly; Mykyta Artomov
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Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders
err2025-12-10
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PREAI
errKurganov, Erkin; Cui, Lei; Budnik, Nikita; Chen, Siwei; Olivares, Erick; Baez-Nieto, David; Asan, Ahmet S.; Lusk, Laina; Smith, Lacey; Jo, Sooyeon; Marques, Diogo; Nehme, Ralda; Mullegama, Sureni V.; Lindy, Amanda; George, Alfred L.; Poduri, Annapurna; Helbig, Ingo; Daly, Mark; Pan, Jen Q.
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Genetics and context for precision health in Greater Boston
err2025-11-26
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errSatoshi Koyama; Ying Wang; Kaavya Paruchuri; Md Mesbah Uddin; So Mi J. Cho; Sarah M. Urbut; Yang Sui; Akl C. Fahed; Himani Kamineni; Sara Haidermota; Whitney E. Hornsby; Robert C. Green; Mark J. Daly; Benjamin M. Neale; Patrick T. Ellinor; Jordan W. Smoller; Susan A. Slaugenhaupt; Matthew S. Lebo; Elizabeth W. Karlson; Alicia R. Martin; Pradeep Natarajan
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Rare genetic variants confer a high risk of ADHD and implicate neuronal biology
errNature
IF48.5
err2025-11-12
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errDitte Demontis; Jinjie Duan; Yu-Han H. Hsu; Greta Pintacuda; Jakob Grove; Trine Tollerup Nielsen; Janne Thirstrup; Makayla Martorana; Travis Botts; F. Kyle Satterstrom; Jonas Bybjerg-Grauholm; Jason H. Y. Tsai; Simon Glerup; Martine Hoogman; Jan Buitelaar; Marieke Klein; Georg C. Ziegler; Christian Jacob; Oliver Grimm; Maximilian Bayas; Nene F. Kobayashi; Sarah Kittel-Schneider; Klaus-Peter Lesch; Barbara Franke; Andreas Reif; Esben Agerbo; Thomas Werge; Merete Nordentoft; Ole Mors; Preben Bo Mortensen; Kasper Lage; Mark J. Daly; Benjamin M. Neale; Anders D. Børglum
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Improved allele frequencies in gnomAD through local ancestry inference
err2025-10-06
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errPragati Kore; Michael W. Wilson; Grace Tiao; Katherine Chao; Philip W. Darnowsky; Nicholas A. Watts; Jessica Honorato Mauer; Samantha M. Baxter; Heidi L. Rehm; Mark J. Daly; Konrad J. Karczewski; Elizabeth G. Atkinson
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Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects
err2025-09-18
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PREAI
errKonrad J. Karczewski; Rahul Gupta; Masahiro Kanai; Wenhan Lu; Kristin Tsuo; Ying Wang; Raymond K. Walters; Patrick Turley; Shawneequa Callier; Nirav N. Shah; Nikolas Baya; Duncan S. Palmer; Jacqueline I. Goldstein; Gopal Sarma; Matthew Solomonson; Nathan Cheng; Sam Bryant; Claire Churchhouse; Caroline M. Cusick; Timothy Poterba; John Compitello; Daniel King; Wei Zhou; Cotton Seed; Hilary K. Finucane; Mark J. Daly; Benjamin M. Neale; Elizabeth G. Atkinson; Alicia R. Martin
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Autoimmune disease risk gene ANKRD55 promotes TH17 effector function through metabolic modulation
err2025-09-11
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PREAI
errXu, Jinjin; Kong, Lingjia; Creasey, Elizabeth A.; Rath, Sneha; Deng, Lei; Avila-Pacheco, Julian; Li, Chenhao; Oliver, Blayne A.; Dao, Tyler T.; Shih, Angela R.; Daly, Mark J.; Shalek, Alex K.; Clish, Clary B.; Graham, Daniel B.; Deguine, Jacques; Xavier, Ramnik J.
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Phenome-wide association study of male and female sex chromosome trisomies in 1.5 million participants of MVP, FinnGen, and UK Biobank
err2025-08-20
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PREAI
errShanlee M. Davis; Aoxing Liu; Craig C. Teerlink; Dana M. Lapato; Bryan Gorman; Giulio Genovese; Madhurbain Singh; Mary P. Reeve; Amanda E. Gentry; Kati M. Donner; Timo P. Sipilä; Awaisa Ghazal; Meghana S. Pagadala; Matthew S. Panizzon; Eva E. Lancaster; Chris Chatzinakos; Andrea Ganna; Tim B. Bigdeli; Mark J. Daly; Julie A. Lynch; Judith Ross; Roseann E. Peterson; Richard L. Hauger
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Multipopulation GWAS for venous thromboembolism identifies novel loci followed by experimental validation in zebrafish
err2025-06-26
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errBrooke N. Wolford; Queena Yakun Zhao; Kuan-Han H. Wu; Xinge Yu; Catherine E. Richter; Laxmi Bhatta; Ben M. Brumpton; Karl C. Desch; Florian Thibord; Derek Klarin; Andrew D. Johnson; David-Alexandre Trégouët; Scott M. Damrauer; Nicholas L. Smith; Valeria Lo Faro; Kristin Tsuo; Mark J. Daly; Benjamin M. Neale; Wei Zhou; Cristen J. Willer; Jordan A. Shavit; Ida Surakka
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Early establishment and life course stability of sex biases in the human brain transcriptome
err2025-05-26
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errClara Benoit-Pilven; Juho V. Asteljoki; Jaakko T. Leinonen; Juha Karjalainen; Mark J. Daly; Taru Tukiainen
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Analysis of Variants Induced by Combined Ex Vivo Irradiation and In Vivo Tumorigenesis Suggests a Role for the ZNF831 p.R1393Q Variant in Cutaneous Melanoma Development
err2024-12-14
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PREAI
errDmitrii Usoltsev; Ching-Ni Njauw; Zhenyu Ji; Raj Kumar; Alexey Sergushichev; Selena Zhang; Eugene Shlyakhto; Mark J. Daly; Mykyta Artomov; Hensin Tsao
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Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience (NOV, 10.1038/s41588-024-01975-5, 2024)
err2024-12-04
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errJurgens, Sean J.; Raemoe, Joel T.; Kramarenko, Daria R.; Wijdeveld, Leonoor F. J. M.; Haas, Jan; Chaffin, Mark D.; Garnier, Sophie; Gaziano, Liam; Weng, Lu-Chen; Lipov, Alex; Zheng, Sean L.; Henry, Albert; Huffman, Jennifer E.; Challa, Saketh; Ruehle, Frank; Verdugo, Carmen Diaz; Juarez, Christian Krijger; Kany, Shinwan; van Orsouw, Constance A.; Biddinger, Kiran; Poel, Edwin; Elliott, Amanda L.; Wang, Xin; Francis, Catherine; Ruan, Richard; Koyama, Satoshi; Beekman, Leander; Zimmerman, Dominic S.; Deleuze, Jean-Francois; Villard, Eric; Tregouet, David-Alexandre; Isnard, Richard; Boomsma, Dorret I.; de Geus, Eco J. C.; Tadros, Rafik; Pinto, Yigal M.; Wilde, Arthur A. M.; Hottenga, Jouke-Jan; Sinisalo, Juha; Niiranen, Teemu; Walsh, Roddy; Schmidt, Amand F.; Choi, Seung Hoan; Chang, Kyong-Mi; Tsao, Philip S.; Matthews, Paul M.; Ware, James S.; Lumbers, R. Thomas; van der Crabben, Saskia; Laukkanen, Jari; Palotie, Aarno; Amin, Ahmad S.; Charron, Philippe; Meder, Benjamin; Ellinor, Patrick T.; Daly, Mark; Aragam, Krishna G.; Bezzina, Connie R.
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Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience
err2024-11-21
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errJurgens, Sean J.; Raemoe, Joel T.; Kramarenko, Daria R.; Wijdeveld, Leonoor F. J. M.; Haas, Jan; Chaffin, Mark D.; Garnier, Sophie; Gaziano, Liam; Weng, Lu-Chen; Lipov, Alex; Zheng, Sean L.; Henry, Albert; Huffman, Jennifer E.; Challa, Saketh; Ruehle, Frank; Verdugo, Carmen Diaz; Krijger Juarez, Christian; Kany, Shinwan; van Orsouw, Constance A.; Biddinger, Kiran; Poel, Edwin; Elliott, Amanda L.; Wang, Xin; Francis, Catherine; Ruan, Richard; Koyama, Satoshi; Beekman, Leander; Zimmerman, Dominic S.; Deleuze, Jean-Francois; Villard, Eric; Tregouet, David-Alexandre; Isnard, Richard; Boomsma, Dorret I.; de Geus, Eco J. C.; Tadros, Rafik; Pinto, Yigal M.; Wilde, Arthur A. M.; Hottenga, Jouke-Jan; Sinisalo, Juha; Niiranen, Teemu; Walsh, Roddy; Schmidt, Amand F.; Choi, Seung Hoan; Chang, Kyong-Mi; Tsao, Philip S.; Matthews, Paul M.; Ware, James S.; Lumbers, R. Thomas; van der Crabben, Saskia; Laukkanen, Jari; Palotie, Aarno; Amin, Ahmad S.; Charron, Philippe; Meder, Benjamin; Ellinor, Patrick T.; Daly, Mark; Aragam, Krishna G.; Bezzina, Connie R.
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Utility of polygenic risk score for prediction of dilated cardiomyopathy and modulation of severity of LV dysfunction among cases
err2024-10-28
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PREAI
errKramarenko, D. R.; Jurgens, S. J.; Ramo, J. T.; Van Orsouw, C. A.; Hottenga, J. J.; Charron, P.; Meder, B.; Palotie, A.; Daly, M.; Ellinor, P. T.; Pinto, Y. M.; Aragam, K. G.; Van Der Crabben, S. N.; Amin, A. S.; Bezzina, C. R.
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