D
Daniel G. MacArthur
Researcher at Broad Institute
Publications - 281
Citations - 73196
Daniel G. MacArthur is an academic researcher from Broad Institute. The author has contributed to research in topics: Population & Exome sequencing. The author has an hindex of 80, co-authored 265 publications receiving 54145 citations. Previous affiliations of Daniel G. MacArthur include Harvard University & Massachusetts Institute of Technology.
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Journal ArticleDOI
Response to ‘Predicting the diagnosis of autism spectrum disorder using gene pathway analysis'
Elise B. Robinson,Daniel P. Howrigan,Jian Yang,Stephan Ripke,Verneri Anttila,Laramie E. Duncan,Luke Jostins,Jeffrey C. Barrett,Sarah E. Medland,Daniel G. MacArthur,Gerome Breen,Michael Conlon O'Donovan,Naomi R. Wray,Bernie Devlin,Mark J. Daly,Peter M. Visscher,Patrick F. Sullivan,Benjamin M. Neale +17 more
TL;DR: Responses to ‘Predicting the diagnosis of autism spectrum disorder using gene pathway analysis’ and ‘Genetic pathways analysis and clinical practice’.
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Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?
André Mégarbané,Rashid Al-Ali,Nancy Choucair,Monko Lek,Ena Wang,Moncef M. Ladjimi,Catherine M. Rose,Remy Hobeika,Yvette Macary,Ramzi Temanni,Puthen V. Jithesh,Aouatef Ismail Chouchane,Konduru S Sastry,Remy Thomas,Sara Tomei,Wei Liu,Francesco M. Marincola,Daniel G. MacArthur,Lotfi Chouchane +18 more
TL;DR: It is demonstrated thatKCNH1 mutations cause TMBTS and expand the mutational spectrum of KCNH1 in TMB TS and suggest that the two syndromes are a continuum and that the variability in the phenotypes is the result of the involvement of genetic modifiers.
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Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration.
Farzad Jamshidi,Emily Place,Sudeep Mehrotra,Daniel Navarro-Gomez,Mathew Maher,Kari Branham,Elise Valkanas,Timothy J. Cherry,Monkol Lek,Monkol Lek,Daniel G. MacArthur,Daniel G. MacArthur,Eric A. Pierce,Kinga M. Bujakowska +13 more
TL;DR: The results suggest that noncoding pathogenic variants contribute significantly to the genetic causality of IRDs and RPGRIP1-mediated IRDs are more common than previously thought.
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matchbox: An open-source tool for patient matching via the Matchmaker Exchange.
Harindra Arachchi,Monica H. Wojcik,Monica H. Wojcik,Benjamin Weisburd,Julius O.B. Jacobsen,Elise Valkanas,Samantha Baxter,Alicia B. Byrne,Alicia B. Byrne,Alicia B. Byrne,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,Melissa A. Haendel,Melissa A. Haendel,Damian Smedley,Daniel G. MacArthur,Daniel G. MacArthur,Anthony A. Philippakis,Heidi L. Rehm,Heidi L. Rehm +19 more
TL;DR: Matchbox is described, which is an open‐source, platform‐independent, portable bridge between any given rare disease genomic center and the MME network, which has already led to novel gene discoveries and greatly reduces the barrier to participation by overcoming challenges for new databases to join the Mme.
Journal ArticleDOI
Phylogenetic Analysis of Gene Structure and Alternative Splicing in α-Actinins
Monkol Lek,Monkol Lek,Daniel G. MacArthur,Daniel G. MacArthur,Daniel G. MacArthur,Nan Yang,Nan Yang,Kathryn N. North,Kathryn N. North +8 more
TL;DR: The completed genome sequence of over 32 invertebrate species has allowed the analysis of gene structure and exon-gene duplication over a diverse range of phyla to show that relative to early branching metazoans, there has been considerable intron loss especially in arthropods with few cases of intron gains.