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M

Mark J. Daly

broad institute
H指数:224
被引数:40.9万

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Systematic comparison of affinity plasma proteomic technologies across multiple cohorts reveals generalizability of proteomic prediction

多队列中亲和血浆蛋白质组学技术的系统性比较揭示了蛋白质组预测的普适性

Nature Communications
IF15.7
2026-10-080
OA
Anthony Barente; Zijie Zhao; Zhili Zheng; Chun Wu; Kritika Singh; Zhaoqing Wang; Aisling O’Hara Hall; Laurence Menard; Isaac Neuhaus; Mitja Kurki; Aarno Palotie; Mark Daly; Sarah Finer; David A. van Heel; Maik Pietzner; Claudia Langenberg; Joseph Maranville; Tai Wang; Benjamin B. Sun
Population-scale immune multiome atlas reveals regulatory disease mechanisms

人群规模免疫多组学图谱揭示疾病调控机制

Nature
IF48.5
2026-09-300
PRE
Masahiro Kanai; Toni M. Delorey; Jarno Honkanen; Rodosthenis S. Rodosthenous; Julianna Juvila; Shane Murphy; Isabella Teixeira-Soldano; Hee Seung Hwang; Juha Karjalainen; Jussi Halonen; Georgia Panagiotaropoulou; Yuanxiang Zhang; Cristin McCabe; Eric Chen; Kosaku Nanki; Toshimi Yoshida; Kai Liu; Marla Glean; Nitya Mehrotra; Emily P. Finan; Daniel Chafamo; Yixiao Zhu; Mikko Arvas; Sanni Ruotsalainen; Zhili Zheng; Yoshihiko Tomofuji; Daiki Tokuyasu; Shinichi Namba; Kyuto Sonehara; Yukinori Okada; Mary Pat Reeve; Mitja Kurki; Caroline B. M. Porter; Orr Ashenberg; Wei Zhou; Kimmo Pitkänen; Jukka Partanen; Aarno Palotie; Daniel B. Graham; Mark J. Daly; Ramnik J. Xavier
Contribution of copy number variants to schizophrenia in East Asian populations

东亚人群中拷贝数变异对精神分裂症的贡献

Nature Genetics
IF29
2026-09-110
OAAI
Yu Chen; Qidi Feng; Max Lam; Mingrui Yu; Yaoyao Sun; Cong Huai; Bimal Jana; Jack Fu; Calwing Liao; Robert Ye; Soyeon Kim; Justin D. Tubbs; Omar Shanta; Bhooma Thiruvahindrapuram; Yawen Jen; Guorui Zhao; Jess Wang; Juan Xu; Wenzhao Shi; Stephen W. Scherer; Feng Zhu; Chih-Min Liu; Zhenglin Guo; Daniel Howrigan; Mark Daly; Benjamin M. Neale; Akira Sawa; Jonathan Sebat; Michael E. Talkowski; Jinsong Tang; Xiancang Ma; Wei J. Chen; Shengying Qin; Weihua Yue; Tian Ge; Hailiang Huang
Genome-wide meta-analysis identifies genetic drivers of bile acid metabolism in intrahepatic cholestasis of pregnancy

全基因组荟萃分析确定妊娠期肝内胆汁淤积症胆汁酸代谢的遗传驱动因素

Nature Communications
IF15.7
2026-05-250
OAAI
Jaakko 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
Deleterious coding variation associated with autism is shared across ancestries

与自闭症相关的有害编码变异在祖先之间共享

Nature Medicine
IF50
2026-03-300
OAAI
Marina 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
Genetic regulation across germline and somatic variation on the Y chromosome contributes to type 2 diabetes

Y染色体上跨越生殖细胞系和体细胞变异的遗传调控对2型糖尿病有贡献。

Nature Medicine
IF50
2026-02-230
OAAI
Go 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
Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases

全球多祖先全基因组分析确定与甲状腺癌和良性甲状腺疾病相关的基因和生物学途径

Nature Genetics
IF29
2026-02-050
OAAI
Samantha 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
Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders

神经发育障碍中发现的CACNA1A错义变异的功能和临床影响表征

SCIENCE TRANSLATIONAL MEDICINE
IF14.6
2025-12-100
PRE
Kurganov, 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.
Genetics and context for precision health in Greater Boston

精准健康在大波士顿地区的遗传学与背景

Nature Communications
IF15.7
2025-11-260
OAAI
Satoshi 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
Rare genetic variants confer a high risk of ADHD and implicate neuronal biology

稀有遗传变异会增加ADHD的风险，并涉及神经元生物学。

Nature
IF48.5
2025-11-120
OAAI
Ditte 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
Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects

全英生物银行全基因组关联分析增强了祖先富集效应的发现和解析

Nature Genetics
IF0
2025-09-180
PRE
Konrad 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
Phenome-wide association study of male and female sex chromosome trisomies in 1.5 million participants of MVP, FinnGen, and UK Biobank

全基因组关联研究：男性与女性性染色体三体在MVP、FinnGen和UK Biobank 150万参与者中的分析

american journal of human genetics
IF0
2025-08-200
PRE
Shanlee 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
Multipopulation GWAS for venous thromboembolism identifies novel loci followed by experimental validation in zebrafish

多人群静脉血栓栓塞症的全基因组关联研究鉴定了新的位点，随后在斑马鱼中进行实验验证

Blood Advances
IF7.1
2025-06-260
OAAI
Brooke 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
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

由体外辐照与体内肿瘤发生联合诱导的变异分析表明，ZNF831 p.R1393Q变异在皮肤黑色素瘤发展中具有作用

Journal of Investigative Dermatology
IF5.7
2024-12-140
PRE
Dmitrii Usoltsev; Ching-Ni Njauw; Zhenyu Ji; Raj Kumar; Alexey Sergushichev; Selena Zhang; Eugene Shlyakhto; Mark J. Daly; Mykyta Artomov; Hensin Tsao

研究方向

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B
Benjamin M. Neale
H 指数:160论文数:817被引数:21.4万
D
David Altshuler
H 指数:157论文数:430被引数:21.2万
A
Aarno Palotie
H 指数:171论文数:1,253被引数:18.6万
J
John D. Rioux
H 指数:99论文数:394被引数:7.2万
R
Ramnik J. Xavier
H 指数:186论文数:1,025被引数:18.4万
A
Anders D. Børglum
H 指数:101论文数:705被引数:5.8万
S
Stephan Ripke
H 指数:126论文数:532被引数:12.5万
T
Thomas Werge
H 指数:104论文数:766被引数:6.2万
S
Shaun Purcell
H 指数:120论文数:449被引数:16.6万
A
Alicia R. Martin
H 指数:62论文数:224被引数:5.3万