Risultati della ricerca - MacArthur, Daniel G.

Biology of Genomes: making sense of sequence di MacArthur, Daniel G

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Sifting disease-causing signal from genomic noise di MacArthur, Daniel G

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Challenges in clinical genomics di MacArthur, Daniel G

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Loss-of-function variants in the genomes of healthy humans di MacArthur, Daniel G., Tyler-Smith, Chris

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Publicly available data provide evidence against NR1H3 R415Q causing multiple sclerosis di Minikel, Eric Vallabh, MacArthur, Daniel G.

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Human disease genomics: from variants to biology di McCarthy, Mark I., MacArthur, Daniel G.

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The promise and reality of personal genomics di Yngvadottir, Bryndis, MacArthur, Daniel G, Jin, Hanjun, Tyler-Smith, Chris

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Phylogenetic Analysis of Gene Structure and Alternative Splicing in α-Actinins di Lek, Monkol, MacArthur, Daniel G., Yang, Nan, North, Kathryn N.

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Misuse of hierarchical linear models overstates the significance of a reported association between OXTR and prosociality di Jostins, Luke, Pickrell, Joseph K., MacArthur, Daniel G., Barrett, Jeffrey C.

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Dindel: Accurate indel calls from short-read data di Albers, Cornelis A., Lunter, Gerton, MacArthur, Daniel G., McVean, Gilean, Ouwehand, Willem H., Durbin, Richard

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ClinVar data parsing di Zhang, Xiaolei, Minikel, Eric V., O'Donnell-Luria, Anne H., MacArthur, Daniel G., Ware, James S., Weisburd, Ben

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ACTN3 Genotype Is Associated with Human Elite Athletic Performance di Yang, Nan, MacArthur, Daniel G., Gulbin, Jason P., Hahn, Allan G., Beggs, Alan H., Easteal, Simon, North, Kathryn

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Gene inactivation and its implications for annotation in the era of personal genomics di Balasubramanian, Suganthi, Habegger, Lukas, Frankish, Adam, MacArthur, Daniel G., Harte, Rachel, Tyler-Smith, Chris, Harrow, Jennifer, Gerstein, Mark

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Mutations in eIF4ENIF1 Are Associated With Primary Ovarian Insufficiency di Kasippillai, Thushiga, MacArthur, Daniel G., Kirby, Andrew, Thomas, Brett, Lambalk, Cornelius B., Daly, Mark J., Welt, Corrine K.

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Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease di Menezes, Manoj P., Waddell, Leigh, Lenk, Guy M., Kaur, Simranpreet, MacArthur, Daniel G., Meisler, Miriam H., Clarke, Nigel F.

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UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) Binds to Alpha-Actinin 1: Novel Pathways in Skeletal Muscle? di Amsili, Shira, Zer, Hagit, Hinderlich, Stephan, Krause, Sabine, Becker-Cohen, Michal, MacArthur, Daniel G., North, Kathryn N., Mitrani-Rosenbaum, Stella

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Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects di Zou, James, Valiant, Gregory, Valiant, Paul, Karczewski, Konrad, Chan, Siu On, Samocha, Kaitlin, Lek, Monkol, Sunyaev, Shamil, Daly, Mark, MacArthur, Daniel G.

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Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes di Balasubramanian, Suganthi, Fu, Yao, Pawashe, Mayur, McGillivray, Patrick, Jin, Mike, Liu, Jeremy, Karczewski, Konrad J., MacArthur, Daniel G., Gerstein, Mark

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An eMERGE Clinical Center at Partners Personalized Medicine di Smoller, Jordan W., Karlson, Elizabeth W., Green, Robert C., Kathiresan, Sekar, MacArthur, Daniel G., Talkowski, Michael E., Murphy, Shawn N., Weiss, Scott T.

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Human genetic variation alters CRISPR-Cas9 on- and off-targeting specificity at therapeutically implicated loci di Lessard, Samuel, Francioli, Laurent, Alfoldi, Jessica, Tardif, Jean-Claude, Ellinor, Patrick T., MacArthur, Daniel G., Lettre, Guillaume, Orkin, Stuart H., Canver, Matthew C.

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