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D

Daniel G. MacArthur

broad institute
H指数:113
被引数:9.6万

个人简介

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教育背景

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荣誉奖项

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Rare and common genetic variants shape single-cell immune gene expression

罕见和常见遗传变异塑造单细胞免疫基因表达

Nature
IF48.5
2026-10-280
OAAI
Anna S. E. Cuomo; Eleanor Spenceley; Hope A. Tanudisastro; Blake Bowen; Albert Henry; Hao Lawrence Huang; Angli Xue; Wei Zhou; Matthew J. Welland; Samantha J. Bryen; Oscar A. Dong; Arthur S. Lee; Jeffrey M. Pullin; Kristof Wing; Owen Tang; Michael P. Gray; Michael Franklin; Michael Harper; Michael Silk; Katalina Bobowik; Alexander Stuckey; John Marshall; Vivian Bakiris; Caitlin Uren; Rachael A. McCloy; Bindu Swapna Madala; Amy Miniter; Caitlin Bartie; Drew R. Neavin; Zhen Qiao; Eyal Ben-David; Ling Chen; Kyle Kai-How Farh; Stuart M. Grieve; Tung Nguyen; Chris Wallace; Jennifer Piscionere; Owen M. Siggs; Hannah Nicholas; Katrina M. de Lange; Alex W. Hewitt; Gemma A. Figtree; Daniel G. MacArthur; Joseph E. Powell
Genetic variants shape single-cell chromatin accessibility and disease risk

遗传变异塑造单细胞染色质可及性和疾病风险

Nature
IF48.5
2026-10-280
OAAI
Angli Xue; Jianan Fan; Oscar A. Dong; Hao Lawrence Huang; Ling Chen; Peter C. Allen; Eleanor Spenceley; Eszter Sagi-Zsigmond; Blake Bowen; Albert Henry; Anna S. E. Cuomo; Hope A. Tanudisastro; Zhen Qiao; Elizabeth Dorans; Eyal Ben-David; Kyle Kai-How Farh; Linfeng Hu; Yijia Christiana Liu; Drew R. Neavin; Arthur S. Lee; Anne Senabouth; Caitlin Bartie; Rachael A. McCloy; Venessa Chin; Wei Zhou; Alkes L. Price; Katrina M. de Lange; Gemma A. Figtree; Alex W. Hewitt; Daniel G. MacArthur; Joseph E. Powell
Tandem repeat variation shapes immune cell type-specific gene expression

串联重复变异塑造免疫细胞类型特异性基因表达

Nature
IF48.5
2026-10-280
PRE
Hope A. Tanudisastro; Anna S. E. Cuomo; Ben Weisburd; Matthew Welland; Eleanor Spenceley; Michael Franklin; Angli Xue; Hao Lawrence Huang; Blake Bowen; Jianan Fan; Oscar A. Dong; Albert Henry; Peter C. Allen; Kristof Wing; Owen Tang; Michael Gray; Andre L. M. Reis; Jonathan Margoliash; Nehir E. Kurtas; Jeffrey M. Pullin; Arthur S. Lee; Harrison Brand; Michael Harper; Katalina Bobowik; Michael Silk; Amy Miniter; John Marshall; Vivian Bakiris; Bindu Swapna Madala; Caitlin Uren; Caitlin Bartie; Rachael A. McCloy; Anne Senabouth; Harriet Dashnow; Liam Fearnley; Alejandro Martin-Trujillo; Egor Dolzhenko; Zhen Qiao; Stuart M. Grieve; Tung Nguyen; Eyal Ben-David; Ling Chen; Kyle Kai-How Farh; Michael E. Talkowski; Stephen I. Alexander; Owen M. Siggs; Leonhard Gruenschloss; Hannah R. Nicholas; Jennifer Piscionere; Cas Simons; Chris Wallace; Melissa Gymrek; Ira W. Deveson; Alex W. Hewitt; Gemma A. Figtree; Katrina M. de Lange; Joseph E. Powell; Daniel G. MacArthur
Comparison of Performance of Publicly Available Polygenic Risk Scores to Predict Clinically Actionable Coronary Artery Calcium Scores: The BioHEART-CT Cohort

公开可用多基因风险评分在预测临床可干预冠状动脉钙化评分中的性能比较：BioHEART-CT队列研究

European Journal of Preventive Cardiology
IF7.5
2026-09-160
OAAI
Michael P Gray; Dario Strbenac; Daniel Brieger; Suzanne Avis; Sina Fathieh; Daniel G MacArthur; Pradeep Natarajan; Aniruddh Patel; Ellis Patrick; Joseph Powell; Owen Tang; Stephen T Vernon; Dantong Zhu; Jean Y H Yang; Gemma A Figtree
Automated reanalysis of genomic data for rare disease diagnostics at scale

大规模罕见疾病诊断的基因组数据自动化再分析

Nature Medicine
IF50
2026-06-240
OAAI
Matthew J. Welland; K. D. Ahlquist; Paul De Fazio; Christina Austin-Tse; Lynn Pais; Laura Wedd; Samantha Bryen; Rocio Rius; Michael Franklin; Caitlin Morrison; Giles Hall; Laura Gauthier; Alex Bloemendal; David I. Francis; Andrew J. Mallett; Amali Mallawaarachchi; Paul J. Lockhart; Richard Leventer; Ingrid E. Scheffer; Katherine B. Howell; Karin S. Kassahn; Hamish S. Scott; Julie McGaughran; John Christodoulou; David R. Thorburn; Bryony A. Thompson; Chirag V. Patel; Greg Smith; Anne O’Donnell-Luria; Simon Sadedin; Heidi L. Rehm; Sebastian Lunke; Jeremiah Wander; Kaitlin E. Samocha; Cas Simons; Daniel G. MacArthur; Zornitza Stark
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

RNU4-2非编码RNA基因的双等位基因变异导致一种具有独特白质变化的隐性神经发育综合征。

Nature Genetics
IF29
2026-04-080
OAAI
Rocio Rius; Alexander J. M. Blakes; Yuyang Chen; Joachim De Jonghe; François Lecoquierre; Ruebena Dawes; Benjamin Cogne; Hyung Chul Kim; Javeria R. Alvi; Florence Amblard; Morad Ansari; Annabelle Arlt; Christina Austin-Tse; Sarah Baer; Meena Balasubramanian; Elsa V. Balton; Giulia Barcia; Ana Beleza-Meireles; Jonathan A. Bernstein; Jasmin Beygo; Pierre Blanc; Nuria C. Bramswig; Frederik Braun; Daniel Buchzik; Daniel G. Calame; Jamie Campbell; Charles Coutton; Chloe A. Cunningham; Nitsuh Dargie; Christel Depienne; Katrina M. Dipple; Anne Dieux; Abhijit Dixit; Lauren Dreyer; Haowei Du; Salima El Chehadeh; Michael Field; Lisa J. Ewans; Vanessa Geiger; Richard A. Gibbs; Ian Glass; Olivier Grunewald; Paul Gueguen; Tobias B. Haack; Hamza Hadj Abdallah; Radu Harbuz; Ingo Helbig; Judit Horvath; Alexander Hustinx; Bertrand Isidor; Marie-Line Jacquemont; Fraser Jamie; Médéric Jeanne; Riley Kessler; Hannah Klinkhammer; G. Christoph Korenke; Urania Kotzaeridou; Peter Krawitz; Steven Laurie; Richard J. Leventer; Rebecca J. Levy; James R. Lupski; Pierre Marijon; Kaitlin E. McGinnis; Rodrigo Mendez; Olfa Messaoud; Caroline Nava; Mevyn Nizard; Anne O’Donnell-Luria; Melanie C. O’Leary; Simone Olivieri; Amitav Parida; Davut Pehlivan; Anna Jenne Prentice; Jennifer E. Posey; Chloe M. Reuter; Véronique Satre; Caroline Schluth-Bolard; Thomas Smol; Tipu Sultan; John Taylor; Christel Thauvin-Robinetvin; Julien Thevenon; Eloise Uebergang; Sandra Ueberberg; Catherine Vincent-Delorme; Evangeline Wassmer; Emma Westwood; Matthew T. Wheeler; Elif Yilmaz Gulec; Adeline Vanderver; Arastoo Vossough; Stephan J. Sanders; Siddharth Banka; Gregory M. Findlay; Daniel G. MacArthur; Cas Simons; Nicola Whiffin
Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders

RNU4-2的饱和编辑揭示了不同的显性和隐性障碍

Nature
IF48.5
2026-04-080
OAAI
Joachim De Jonghe; Hyung Chul Kim; Ayanfeoluwa Adedeji; Elsa Leitão; Ruebena Dawes; Christina M. Kajba; Benjamin Cogné; Yuyang Chen; Alexander J. M. Blakes; Cas Simons; Rocio Rius; Javeria R. Alvi; Florence Amblard; Christina Austin-Tse; Sarah Baer; Elsa V. Balton; Pierre Blanc; Daniel G. Calame; Charles Coutton; Chloe A. Cunningham; Nitsuh Dargie; Katrina M. Dipple; Haowei Du; Salima El Chehadeh; Ian Glass; Joseph G. Gleeson; Olivier Grunewald; Paul Gueguen; Radu Harbuz; Marie-Line Jacquemont; Richard J. Leventer; Pierre Marijon; Olfa Messaoud; Tipu Sultan; Christel Thauvin; Catherine Vincent-Delorme; Elif Yilmaz Gulec; Julien Thevenon; Rodrigo Mendez; Daniel G. MacArthur; Christel Depienne; Caroline Nava; Nicola Whiffin; Gregory M. Findlay
Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity

44,028名高近交度富集的英国南亚裔外显子测序与分析

Nature Genetics
IF29
2026-03-010
PRE
Kim, Hye In; Deboever, Christopher; Walter, Klaudia; Kalantzis, Georgios; Li, Chen; Mozaffari, Sahar V.; Kundu, Kousik; Jacobs, Benjamin M.; Mohammadi-Shemirani, Pedrum; Musolf, Anthony M.; Davitte, Jonathan M.; Aksit, Melis A.; Gafton, Joseph; Catalano, Katrina A.; Dawed, Adem Y.; Graham, Robert R.; Guo, Bin; Gupta, Namrata; Heng, Teng Hiang; Hunt, Karen A.; Iyer, Vivek; Langenberg, Claudia; Lassen, Frederik H.; MacArthur, Daniel G.; Maher, Eamonn R.; Maroteau, Cyrielle; Newman, William G.; O'rahilly, Stephen; Palmer, Duncan S.; Popov, Iaroslav; Siddiqui, Moneeza K.; Simpson, Michael A.; Spreckley, Marie; Wright, John; Del Angel, Guillermo; Petrovski, Slave; Holzinger, Emily R.; Maranville, Joseph C.; Addis, Laura; Turner, Richard M.; Estrada, Karol; Longerich, Simone; Howson, Joanna M. M.; Jamshidi, Yalda; Fauman, Eric B.; Miller, Melissa R.; Diogo, Dorothee; Trembath, Richard C.; Finer, Sarah; Martin, Hilary C.; van Heel, David A.
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T

COL6相关严重型肌营养不良的表征：由复发性变异COL6A1 c.930+189C>T引起

Brain
IF11.7
2025-04-030
OA
A Reghan Foley; Véronique Bolduc; Fady Guirguis; Sandra Donkervoort; Ying Hu; Rotem Orbach; Riley M McCarty; Apurva Sarathy; Gina Norato; Beryl B Cummings; Monkol Lek; Anna Sarkozy; Russell J Butterfield; Janbernd Kirschner; Andrés Nascimento; Daniel Natera-de Benito; Susana Quijano-Roy; Tanya Stojkovic; Luciano Merlini; Giacomo Comi; Monique Ryan; Denise McDonald; Pinki Munot; Grace Yoon; Edward Leung; Erika Finanger; Meganne E Leach; James Collins; Cuixia Tian; Payam Mohassel; Sarah B Neuhaus; Dimah Saade; Benjamin T Cocanougher; Mary-Lynn Chu; Mena Scavina; Carla Grosmann; Randal Richardson; Brian D Kossak; Sidney M Gospe; Vikram Bhise; Gita Taurina; Baiba Lace; Monica Troncoso; Mordechai Shohat; Adel Shalata; Sophelia H S Chan; Manu Jokela; Johanna Palmio; Göknur Haliloğlu; Cristina Jou; Corine Gartioux; Herimela Solomon-Degefa; Carolin D Freiburg; Alvise Schiavinato; Haiyan Zhou; Sara Aguti; Yoram Nevo; Ichizo Nishino; Cecilia Jimenez-Mallebrera; Shireen R Lamandé; Valérie Allamand; Francesca Gualandi; Alessandra Ferlini; Daniel G MacArthur; Steve D Wilton; Raimund Wagener; Enrico Bertini; Francesco Muntoni; Carsten G Bönnemann
Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene
NEW ENGLAND JOURNAL OF MEDICINE
IF78.5
2024-10-241
PRE
Ganesh, Vijay S.; Riquin, Kevin; Chatron, Nicolas; Yoon, Esther; Lamar, Kay-Marie; Aziz, Miriam C.; Monin, Pauline; O'Leary, Melanie C.; Goodrich, Julia K.; Garimella, Kiran V.; England, Eleina; Weisburd, Ben; Aguet, Francois; Bacino, Carlos A.; Murdock, David R.; Dai, Hongzheng; Rosenfeld, Jill A.; Emrick, Lisa T.; Ketkar, Shamika; Sarusi, Yael; Sanlaville, Damien; Kayani, Saima; Broadbent, Brian; Pengam, Alisee; Isidor, Bertrand; Bezieau, Stephane; Cogne, Benjamin; Macarthur, Daniel G.; Ulitsky, Igor; Carvill, Gemma L.; O'Donnell-Luria, Anne
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders
NATURE COMMUNICATIONS
IF15.7
2024-09-270
OAAI
Lee, Arthur S.; Ayers, Lauren J.; Kosicki, Michael; Chan, Wai-Man; Fozo, Lydia N.; Pratt, Brandon M.; Collins, Thomas E.; Zhao, Boxun; Rose, Matthew F.; Sanchis-Juan, Alba; Fu, Jack M.; Wong, Isaac; Zhao, Xuefang; Tenney, Alan P.; Lee, Cassia; Laricchia, Kristen M.; Barry, Brenda J.; Bradford, Victoria R.; Jurgens, Julie A.; England, Eleina M.; Lek, Monkol; Macarthur, Daniel G.; Lee, Eunjung Alice; Talkowski, Michael E.; Brand, Harrison; Pennacchio, Len A.; Engle, Elizabeth C.
Genome Sequencing for Diagnosing Rare Diseases
NEW ENGLAND JOURNAL OF MEDICINE
IF78.5
2024-06-0610
PRE
Wojcik, Monica H.; Lemire, Gabrielle; Berger, Eva; Zaki, Maha S.; Wissmann, Mariel; Win, Wathone; White, Susan M.; Weisburd, Ben; Wieczorek, Dagmar; Waddell, Leigh B.; Verboon, Jeffrey M.; VanNoy, Grace E.; Toepf, Ana; Tan, Tiong Yang; Syrbe, Steffen; Strehlow, Vincent; Straub, Volker; Stenton, Sarah L.; Snow, Hana; Singer-Berk, Moriel; Silver, Josh; Shril, Shirlee; Seaby, Eleanor G.; Schneider, Ronen; Sankaran, Vijay G.; Sanchis-Juan, Alba; Russell, Kathryn A.; Reinson, Karit; Ravenscroft, Gianina; Radtke, Maximilian; Popp, Denny; Polster, Tilman; Platzer, Konrad; Pierce, Eric A.; Place, Emily M.; Pajusalu, Sander; Pais, Lynn; Ounap, Katrin; Osei-Owusu, Ikeoluwa; Opperman, Henry; Okur, Volkan; Oja, Kaisa Teele; O'Leary, Melanie; O'Heir, Emily; Morel, Chantal F.; Merkenschlager, Andreas; Marchant, Rhett G.; Mangilog, Brian E.; Madden, Jill A.; MacArthur, Daniel; Lovgren, Alysia; Lerner-Ellis, Jordan P.; Lin, Jasmine; Laing, Nigel; Hildebrandt, Friedhelm; Hentschel, Julia; Groopman, Emily; Goodrich, Julia; Gleeson, Joseph G.; Ghaoui, Roula; Genetti, Casie A.; Gburek-Augustat, Janina; Gazda, Hanna T.; Ganesh, Vijay S.; Ganapathi, Mythily; Gallacher, Lyndon; Fu, Jack M.; Evangelista, Emily; England, Eleina; Donkervoort, Sandra; DiTroia, Stephanie; Cooper, Sandra T.; Chung, Wendy K.; Christodoulou, John; Chao, Katherine R.; Cato, Liam D.; Bujakowska, Kinga M.; Bryen, Samantha J.; Brand, Harrison; Boennemann, Carsten G.; Beggs, Alan H.; Baxter, Samantha M.; Bartolomaeus, Tobias; Agrawal, Pankaj B.; Talkowski, Michael; Austin-Tse, Christina; Abou Jamra, Rami; Rehm, Heidi L.; O'Donnell-Luria, Anne

研究方向

暂未获取到该数据
M
Monkol Lek
H 指数:60论文数:225被引数:4.3万
A
Anne O’Donnell‐Luria
H 指数:61论文数:281被引数:3.8万
K
Kathryn N. North
H 指数:98论文数:622被引数:3.1万
K
Konrad J. Karczewski
H 指数:70论文数:254被引数:5.5万
B
Beryl B. Cummings
H 指数:45论文数:113被引数:3.5万
M
Mark J. Daly
H 指数:224论文数:1,263被引数:40.9万
H
Heidi L. Rehm
H 指数:100论文数:528被引数:7.1万
S
Sandra T. Cooper
H 指数:48论文数:159被引数:7,077
K
Kaitlin E. Samocha
H 指数:54论文数:138被引数:4.5万
B
Ben Weisburd
H 指数:34论文数:110被引数:2.9万