Daniel G. MacArthur - Publications, H-index & Citations

Daniel G. MacArthur

garvan institute of medical research and unsw sydney

113H指数

450论文数

9.7W被引数

收录论文 156

发表时间

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

2026-09-16

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

2026-06-24

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

The Evidence Aggregator: AI reasoning applied to rare disease diagnostics 证据聚合器：将人工智能推理应用于罕见病诊断

Genetics in Medicine

IF6.2

2026-05-27

PREAI

Hope Twede; Lynn Pais; Samantha Bryen; Emily O’Heir; Greg Smith; Ron Paulsen; Christina A. Austin-Tse; Alex Bloemendal; Cas Simons; Amanda K. Hall; Scott Saponas; Miah Wander; Daniel G. MacArthur; Heidi L. Rehm; Ashley Mae Conard

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

2026-04-08

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

2026-04-08

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

Opportunistic genomic screening of healthy controls in an Australian biobank 澳大利亚生物库中健康对照人群的机遇性基因组筛查

European Journal of Human Genetics

IF4.6

2026-04-01

OAAI

Mitchell, Lucas A.; Young, Mary-Anne; Ohnesorg, Thomas; Hobbs, Matthew; Copty, Joseph; Brown, Jaye S.; Hewitt, Alex W.; Powell, Joseph E.; Macathur, Daniel G.; Willis, Amanda M.

Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld-Rieger syndrome Axenfeld-Rieger综合征中破坏保守的PITX2增强子位点的非编码结构变异

European Journal of Human Genetics

IF4.6

2026-03-01

PREAI

Mitchell, Lucas A.; Schmidt, Joshua; Souzeau, Emmanuelle; Knight, Lachlan S. W.; Maxwell, Giorgina; Dubowsky, Andrew; Lim, Ridia; Formaini, Edward; Welland, Matthew; Simons, Cas; Macarthur, Daniel G.; Wiggs, Janey L.; Craig, Jamie E.; Siggs, Owen M.

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

2026-03-01

PREAI

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

2025-04-03

OAAI

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

Pitfalls in performing genome-wide association studies on ratio traits 对比率性状进行全基因组关联研究的陷阱

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2025-04-01

OAAI

Mccaw, Zachary R.; Dey, Rounak; Somineni, Hari; Amar, David; Mukherjee, Sumit; Sandor, Kaitlin; Karaletsos, Theofanis; Koller, Daphne; Aschard, Hugues; Smith, George Davey; Macarthur, Daniel; O'Dushlaine, Colm; Soare, Thomas W.

Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene

NEW ENGLAND JOURNAL OF MEDICINE

IF78.5

2024-10-24

PREAI

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

W28. EFFICIENT AND ACCURATE MIXED MODEL ASSOCI-ATION TOOL FOR SINGLE-CELL EQTL ANALYSIS

EUROPEAN NEUROPSYCHOPHARMACOLOGY

IF6.7

2024-10-01

PREAI

Zhou, Wei; Cuomo, Anna; Xue, Angli; Kanai, Masahiro; Chau, Grant; Krishna, Chirag; Xavier, Ramnik; MacArthur, Daniel; Powell, Joseph; Daly, Mark; Neale, Benjamin

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

NATURE COMMUNICATIONS

IF15.7

2024-09-27

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.

Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts

NATURE GENETICS

IF31.8

2024-07-29

PREAI

Wright, Caroline F.; Sharp, Luke N.; Jackson, Leigh; Murray, Anna; Ware, James S.; MacArthur, Daniel G.; Rehm, Heidi L.; Patel, Kashyap A.; Weedon, Michael N.

Exploring the benefits, harms and costs of genomic newborn screening for rare diseases 探索罕见病基因组新生儿筛查的益处，危害和成本

NATURE MEDICINE

IF50

2024-06-19

PREAI

Baple, Emma L.; Scott, Richard H.; Banka, Siddharth; Buchanan, James; Fish, Louise; Wynn, Sarah; Wilkinson, Dominic; Ellard, Sian; MacArthur, Daniel G.; Stark, Zornitza

Genome Sequencing for Diagnosing Rare Diseases

NEW ENGLAND JOURNAL OF MEDICINE

IF78.5

2024-06-06

PREAI

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

Integrating population genetics, stem cell biology and cellular genomics to study complex human diseases

NATURE GENETICS

IF31.8

2024-05-13

PREAI

Farbehi, Nona; Neavin, Drew R.; Cuomo, Anna S. E.; Studer, Lorenz; MacArthur, Daniel G.; Powell, Joseph E.

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-05-01

OAAI

Lemire, Gabrielle; Sanchis-Juan, Alba; Russell, Kathryn; Baxter, Samantha; Chao, Katherine R.; Singer-Berk, Moriel; Groopman, Emily; Wong, Isaac; England, Eleina; Goodrich, Julia; Pais, Lynn; Austin-Tse, Christina; DiTroia, Stephanie; O'Heir, Emily; Ganesh, Vijay S.; Wojcik, Monica H.; Evangelista, Emily; Snow, Hana; Osei-Owusu, Ikeoluwa; Fu, Jack; Singh, Mugdha; Mostovoy, Yulia; Huang, Steve; Garimella, Kiran; Kirkham, Samantha L.; Neil, Jennifer E.; Shao, Diane D.; Walsh, Christopher A.; Argilli, Emanuela; Le, Carolyn; Sherr, Elliott H.; Gleeson, Joseph G.; Shril, Shirlee; Schneider, Ronen; Hildebrandt, Friedhelm; Sankaran, Vijay G.; Madden, Jill A.; Genetti, Casie A.; Beggs, Alan H.; Agrawal, Pankaj B.; Bujakowska, Kinga M.; Place, Emily; Pierce, Eric A.; Donkervoort, Sandra; Boennemann, Carsten G.; Gallacher, Lyndon; Stark, Zornitza; Tan, Tiong Yang; White, Susan M.; Toepf, Ana; Straub, Volker; Fleming, Mark D.; Pollak, Martin R.; Ounap, Katrin; Pajusalu, Sander; Donald, Kirsten A.; Bruwer, Zandre; Ravenscroft, Gianina; Laing, Nigel G.; MacArthur, Daniel G.; Rehm, Heidi L.; Talkowski, Michael E.; Brand, Harrison; O'Donnell-Luria, Anne

Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes 5' 非翻译区的差异凸显了剂量敏感基因翻译调控的重要性

GENOME BIOLOGY

IF9.4

2024-04-29

OAAI

Wieder, Nechama; D'Souza, Elston N.; Martin-Geary, Alexandra C.; Lassen, Frederik H.; Talbot-Martin, Jonathan; Fernandes, Maria; Chothani, Sonia P.; Rackham, Owen J. L.; Schafer, Sebastian; Aspden, Julie L.; Macarthur, Daniel G.; Davies, Robert W.; Whiffin, Nicola

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone 基因组和RNA测序仅通过外显子组测序就可以促进神经肌肉诊断从34% 中62%

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

IF3.9

2024-03-27

OAAI

Marchant, Rhett G.; Bryen, Samantha J.; Bahlo, Melanie; Cairns, Anita; Chao, Katherine R.; Corbett, Alastair; Davis, Mark R.; Ganesh, Vijay S.; Ghaoui, Roula; Jones, Kristi J.; Kornberg, Andrew J.; Lek, Monkol; Liang, Christina; MacArthur, Daniel G.; Oates, Emily C.; O'Donnell-Luria, Anne; O'Grady, Gina L.; Osei-Owusu, Ikeoluwa A.; Rafehi, Haloom; Reddel, Stephen W.; Roxburgh, Richard H.; Ryan, Monique M.; Sandaradura, Sarah A.; Scott, Liam W.; Valkanas, Elise; Weisburd, Ben; Young, Helen; Evesson, Frances J.; Waddell, Leigh B.; Cooper, Sandra T.

研究方向