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D

Daniel G. MacArthur

garvan institute of medical research and unsw sydney

113H-index
449Paper Count
9.7WCitation Count
Published Papers 155
Publication Date
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Automated reanalysis of genomic data for rare disease diagnostics at scale
errNature Medicine
IF50
err2026-06-24
err0
errOAAI
errMatthew 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
errShare
errSave
The Evidence Aggregator: AI reasoning applied to rare disease diagnostics
errGenetics in Medicine
IF6.2
err2026-05-27
err0
PREAI
errHope 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
errShare
errSave
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
errNature Genetics
IF29
err2026-04-08
err0
errOAAI
errRocio 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
errShare
errSave
Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders
errNature
IF48.5
err2026-04-08
err0
errOAAI
errJoachim 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
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errSave
Opportunistic genomic screening of healthy controls in an Australian biobank
errEuropean Journal of Human Genetics
IF4.6
err2026-04-01
err0
errOAAI
errMitchell, 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.
errShare
errSave
Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld-Rieger syndrome
errEuropean Journal of Human Genetics
IF4.6
err2026-03-01
err0
PREAI
errMitchell, 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.
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errSave
Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity
errNature Genetics
IF29
err2026-03-01
err0
PREAI
errKim, 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.
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errSave
Characterization of severe COL6-related dystrophy due to the recurrent variant <i>COL6A1</i> c.930+189C&amp;gt;T
errBrain
IF11.7
err2025-04-03
err0
errOAAI
errA 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
errShare
errSave
Pitfalls in performing genome-wide association studies on ratio traits
errHUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
err2025-04-01
err0
errOAAI
errMccaw, 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.
errShare
errSave
Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene
errNEW ENGLAND JOURNAL OF MEDICINE
IF78.5
err2024-10-24
err1
PREAI
errGanesh, 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
errShare
errSave
W28. EFFICIENT AND ACCURATE MIXED MODEL ASSOCI-ATION TOOL FOR SINGLE-CELL EQTL ANALYSIS
errEUROPEAN NEUROPSYCHOPHARMACOLOGY
IF6.7
err2024-10-01
err0
PREAI
errZhou, Wei; Cuomo, Anna; Xue, Angli; Kanai, Masahiro; Chau, Grant; Krishna, Chirag; Xavier, Ramnik; MacArthur, Daniel; Powell, Joseph; Daly, Mark; Neale, Benjamin
errShare
errSave
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders
errNATURE COMMUNICATIONS
IF15.7
err2024-09-27
err0
errOAAI
errLee, 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.
errShare
errSave
Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts
errNATURE GENETICS
IF31.8
err2024-07-29
err0
PREAI
errWright, Caroline F.; Sharp, Luke N.; Jackson, Leigh; Murray, Anna; Ware, James S.; MacArthur, Daniel G.; Rehm, Heidi L.; Patel, Kashyap A.; Weedon, Michael N.
errShare
errSave
Exploring the benefits, harms and costs of genomic newborn screening for rare diseases
errNATURE MEDICINE
IF50
err2024-06-19
err1
PREAI
errBaple, Emma L.; Scott, Richard H.; Banka, Siddharth; Buchanan, James; Fish, Louise; Wynn, Sarah; Wilkinson, Dominic; Ellard, Sian; MacArthur, Daniel G.; Stark, Zornitza
errShare
errSave
Genome Sequencing for Diagnosing Rare Diseases
errNEW ENGLAND JOURNAL OF MEDICINE
IF78.5
err2024-06-06
err10
PREAI
errWojcik, 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
errShare
errSave
Integrating population genetics, stem cell biology and cellular genomics to study complex human diseases
errNATURE GENETICS
IF31.8
err2024-05-13
err1
PREAI
errFarbehi, Nona; Neavin, Drew R.; Cuomo, Anna S. E.; Studer, Lorenz; MacArthur, Daniel G.; Powell, Joseph E.
errShare
errSave
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-05-01
err7
errOAAI
errLemire, 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
errShare
errSave
Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes
errGENOME BIOLOGY
IF9.4
err2024-04-29
err5
errOAAI
errWieder, 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
errShare
errSave
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone
errANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
err2024-03-27
err2
errOAAI
errMarchant, 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.
errShare
errSave
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
errNATURE GENETICS
IF31.8
err2024-03-01
err7
errOAAI
errToepf, Ana; Cox, Dan; Zaharieva, Irina T.; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealy, Ian M.; Smolnikov, Andrei; White, Richard J.; Vihola, Anna; Savarese, Marco; Merteroglu, Munise; Wali, Neha; Laricchia, Kristen M.; Venturini, Cristina; Vroling, Bas; Stenton, Sarah L.; Cummings, Beryl B.; Harris, Elizabeth; Marini-Bettolo, Chiara; Diaz-Manera, Jordi; Henderson, Matt; Barresi, Rita; Duff, Jennifer; England, Eleina M.; Patrick, Jane; Al-Husayni, Sundos; Biancalana, Valerie; Beggs, Alan H.; Bodi, Istvan; Bommireddipalli, Shobhana; Boennemann, Carsten G.; Cairns, Anita; Chiew, Mei-Ting; Claeys, Kristl G.; Cooper, Sandra T.; Davis, Mark R.; Donkervoort, Sandra; Erasmus, Corrie E.; Fassad, Mahmoud R.; Genetti, Casie A.; Grosmann, Carla; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Lornage, Xaviere; Loescher, Wolfgang N.; Malfatti, Edoardo; Manzur, Adnan; Marti, Pilar; Mongini, Tiziana E.; Muelas, Nuria; Nishikawa, Atsuko; O'Donnell-Luria, Anne; Ogonuki, Narumi; O'Grady, Gina L.; O'Heir, Emily; Paquay, Stephanie; Phadke, Rahul; Pletcher, Beth A.; Romero, Norma B.; Schouten, Meyke; Shah, Snehal; Smuts, Izelle; Sznajer, Yves; Tasca, Giorgio; Taylor, Robert W.; Tuite, Allysa; van den Bergh, Peter; Vannoy, Grace; Voermans, Nicol C.; Wanschitz, Julia V.; Wraige, Elizabeth; Yoshimura, Kimihiko; Oates, Emily C.; Nakagawa, Osamu; Nishino, Ichizo; Laporte, Jocelyn; Vilchez, Juan J.; Macarthur, Daniel G.; Sarkozy, Anna; Cordell, Heather J.; Udd, Bjarne; Busch-Nentwich, Elisabeth M.; Muntoni, Francesco; Straub, Volker
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errSave

Research Directions

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