Biology of Genomes: making sense of sequence

av MacArthur, Daniel G
Publicerad 2009

Sifting disease-causing signal from genomic noise

av MacArthur, Daniel G
Publicerad 2012

Challenges in clinical genomics

av MacArthur, Daniel G
Publicerad 2012

Loss-of-function variants in the genomes of healthy humans

av MacArthur, Daniel G., Tyler-Smith, Chris
Publicerad 2010

Publicly available data provide evidence against NR1H3 R415Q causing multiple sclerosis

av Minikel, Eric Vallabh, MacArthur, Daniel G.
I publikationen Neuron (2016)

Human disease genomics: from variants to biology

av McCarthy, Mark I., MacArthur, Daniel G.
I publikationen Genome Biol (2017)

The promise and reality of personal genomics

av Yngvadottir, Bryndis, MacArthur, Daniel G, Jin, Hanjun, Tyler-Smith, Chris
Publicerad 2009

Phylogenetic Analysis of Gene Structure and Alternative Splicing in α-Actinins

av Lek, Monkol, MacArthur, Daniel G., Yang, Nan, North, Kathryn N.
Publicerad 2010

Misuse of hierarchical linear models overstates the significance of a reported association between OXTR and prosociality

av Jostins, Luke, Pickrell, Joseph K., MacArthur, Daniel G., Barrett, Jeffrey C.
Publicerad 2012

Dindel: Accurate indel calls from short-read data

av Albers, Cornelis A., Lunter, Gerton, MacArthur, Daniel G., McVean, Gilean, Ouwehand, Willem H., Durbin, Richard
Publicerad 2011

ClinVar data parsing

av Zhang, Xiaolei, Minikel, Eric V., O'Donnell-Luria, Anne H., MacArthur, Daniel G., Ware, James S., Weisburd, Ben
I publikationen Wellcome Open Res (2017)

ACTN3 Genotype Is Associated with Human Elite Athletic Performance

av Yang, Nan, MacArthur, Daniel G., Gulbin, Jason P., Hahn, Allan G., Beggs, Alan H., Easteal, Simon, North, Kathryn
Publicerad 2003

Gene inactivation and its implications for annotation in the era of personal genomics

av Balasubramanian, Suganthi, Habegger, Lukas, Frankish, Adam, MacArthur, Daniel G., Harte, Rachel, Tyler-Smith, Chris, Harrow, Jennifer, Gerstein, Mark
Publicerad 2011

Mutations in eIF4ENIF1 Are Associated With Primary Ovarian Insufficiency

av Kasippillai, Thushiga, MacArthur, Daniel G., Kirby, Andrew, Thomas, Brett, Lambalk, Cornelius B., Daly, Mark J., Welt, Corrine K.
I publikationen J Clin Endocrinol Metab (2013)

Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease

av Menezes, Manoj P., Waddell, Leigh, Lenk, Guy M., Kaur, Simranpreet, MacArthur, Daniel G., Meisler, Miriam H., Clarke, Nigel F.
Publicerad 2014

UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) Binds to Alpha-Actinin 1: Novel Pathways in Skeletal Muscle?

av Amsili, Shira, Zer, Hagit, Hinderlich, Stephan, Krause, Sabine, Becker-Cohen, Michal, MacArthur, Daniel G., North, Kathryn N., Mitrani-Rosenbaum, Stella
Publicerad 2008

Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects

av Zou, James, Valiant, Gregory, Valiant, Paul, Karczewski, Konrad, Chan, Siu On, Samocha, Kaitlin, Lek, Monkol, Sunyaev, Shamil, Daly, Mark, MacArthur, Daniel G.
I publikationen Nat Commun (2016)

Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes

av Balasubramanian, Suganthi, Fu, Yao, Pawashe, Mayur, McGillivray, Patrick, Jin, Mike, Liu, Jeremy, Karczewski, Konrad J., MacArthur, Daniel G., Gerstein, Mark
I publikationen Nat Commun (2017)

An eMERGE Clinical Center at Partners Personalized Medicine

av Smoller, Jordan W., Karlson, Elizabeth W., Green, Robert C., Kathiresan, Sekar, MacArthur, Daniel G., Talkowski, Michael E., Murphy, Shawn N., Weiss, Scott T.
I publikationen J Pers Med (2016)

Human genetic variation alters CRISPR-Cas9 on- and off-targeting specificity at therapeutically implicated loci

av Lessard, Samuel, Francioli, Laurent, Alfoldi, Jessica, Tardif, Jean-Claude, Ellinor, Patrick T., MacArthur, Daniel G., Lettre, Guillaume, Orkin, Stuart H., Canver, Matthew C.
I publikationen Proc Natl Acad Sci U S A (2017)