Biology of Genomes: making sense of sequence

Por MacArthur, Daniel G
Publicado em 2009

Sifting disease-causing signal from genomic noise

Por MacArthur, Daniel G
Publicado em 2012

Challenges in clinical genomics

Por MacArthur, Daniel G
Publicado em 2012

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

Por MacArthur, Daniel G., Tyler-Smith, Chris
Publicado em 2010

Publicly available data provide evidence against NR1H3 R415Q causing multiple sclerosis

Por Minikel, Eric Vallabh, MacArthur, Daniel G.
Publicado no Neuron (2016)

Human disease genomics: from variants to biology

Por McCarthy, Mark I., MacArthur, Daniel G.
Publicado no Genome Biol (2017)

The promise and reality of personal genomics

Por Yngvadottir, Bryndis, MacArthur, Daniel G, Jin, Hanjun, Tyler-Smith, Chris
Publicado em 2009

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

Por Lek, Monkol, MacArthur, Daniel G., Yang, Nan, North, Kathryn N.
Publicado em 2010

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

Por Jostins, Luke, Pickrell, Joseph K., MacArthur, Daniel G., Barrett, Jeffrey C.
Publicado em 2012

Dindel: Accurate indel calls from short-read data

Por Albers, Cornelis A., Lunter, Gerton, MacArthur, Daniel G., McVean, Gilean, Ouwehand, Willem H., Durbin, Richard
Publicado em 2011

ACTN3 Genotype Is Associated with Human Elite Athletic Performance

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

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

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

Mutations in eIF4ENIF1 Are Associated With Primary Ovarian Insufficiency

Por Kasippillai, Thushiga, MacArthur, Daniel G., Kirby, Andrew, Thomas, Brett, Lambalk, Cornelius B., Daly, Mark J., Welt, Corrine K.
Publicado no J Clin Endocrinol Metab (2013)

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

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

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

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

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

Por Zou, James, Valiant, Gregory, Valiant, Paul, Karczewski, Konrad, Chan, Siu On, Samocha, Kaitlin, Lek, Monkol, Sunyaev, Shamil, Daly, Mark, MacArthur, Daniel G.
Publicado no Nat Commun (2016)

An eMERGE Clinical Center at Partners Personalized Medicine

Por Smoller, Jordan W., Karlson, Elizabeth W., Green, Robert C., Kathiresan, Sekar, MacArthur, Daniel G., Talkowski, Michael E., Murphy, Shawn N., Weiss, Scott T.
Publicado no J Pers Med (2016)

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes

Por Ruderfer, Douglas M., Hamamsy, Tymor, Lek, Monkol, Karczewski, Konrad J., Kavanagh, David, Samocha, Kaitlin E., Daly, Mark J., MacArthur, Daniel G., Fromer, Menachem, Purcell, Shaun M.
Publicado no Nat Genet (2016)

High altitude adaptation in Daghestani populations from the Caucasus

Por Pagani, Luca, Ayub, Qasim, MacArthur, Daniel G., Xue, Yali, Baillie, J. Kenneth, Chen, Yuan, Kozarewa, Iwanka, Turner, Daniel J., Tofanelli, Sergio, Bulayeva, Kazima, Kidd, Kenneth, Paoli, Giorgio, Tyler-Smith, Chris
Publicado em 2011

Allelic Expression of Deleterious Protein-Coding Variants across Human Tissues

Por Kukurba, Kimberly R., Zhang, Rui, Li, Xin, Smith, Kevin S., Knowles, David A., How Tan, Meng, Piskol, Robert, Lek, Monkol, Snyder, Michael, MacArthur, Daniel G., Li, Jin Billy, Montgomery, Stephen B.
Publicado em 2014