Works matching AU Samocha, Kaitlin E.

Results: 11
    1

    A framework for the interpretation of de novo mutation in human disease.

    Published in:
    Nature Genetics, 2014, v. 46, n. 9, p. 944, doi. 10.1038/ng.3050
    By:
    • Samocha, Kaitlin E;
    • Robinson, Elise B;
    • Sanders, Stephan J;
    • Stevens, Christine;
    • Sabo, Aniko;
    • McGrath, Lauren M;
    • Kosmicki, Jack A;
    • Rehnström, Karola;
    • Mallick, Swapan;
    • Kirby, Andrew;
    • Wall, Dennis P;
    • MacArthur, Daniel G;
    • Gabriel, Stacey B;
    • DePristo, Mark;
    • Purcell, Shaun M;
    • Palotie, Aarno;
    • Boerwinkle, Eric;
    • Buxbaum, Joseph D;
    • Cook, Edwin H;
    • Gibbs, Richard A
    Publication type:
    Article
    2

    Quantifying prion disease penetrance using large population control cohorts.

    Published in:
    Science Translational Medicine, 2016, v. 8, n. 322, p. 1, doi. 10.1126/scitranslmed.aad5169
    By:
    • Minikel, Eric Vallabh;
    • Vallabh, Sonia M.;
    • Monkol Lek;
    • Estrada, Karol;
    • Samocha, Kaitlin E.;
    • Sathirapongsasuti, J. Fah;
    • McLean, Cory Y.;
    • Tung, Joyce Y.;
    • Yu, Linda P. C.;
    • Gambetti, Pierluigi;
    • Blevins, Janis;
    • Shulin Zhang;
    • Yvonne Cohen;
    • Wei Chen;
    • Masahito Yamada;
    • Tsuyoshi Hamaguchi;
    • Nobuo Sanjo;
    • Hidehiro Mizusawa;
    • Yosikazu Nakamura;
    • Tetsuyuki Kitamoto
    Publication type:
    Article
    3
    4

    Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders.

    Published in:
    Genome Medicine, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13073-020-00725-6
    By:
    • Lal, Dennis;
    • May, Patrick;
    • Perez-Palma, Eduardo;
    • Samocha, Kaitlin E.;
    • Kosmicki, Jack A.;
    • Robinson, Elise B.;
    • Møller, Rikke S.;
    • Krause, Roland;
    • Nürnberg, Peter;
    • Weckhuysen, Sarah;
    • De Jonghe, Peter;
    • Guerrini, Renzo;
    • Niestroj, Lisa M.;
    • Du, Juliana;
    • Marini, Carla;
    • EuroEPINOMICS-RES Consortium;
    • Balling, Rudi;
    • Barisic, Nina;
    • Baulac, Stéphanie;
    • Caglayan, Hande
    Publication type:
    Article
    5

    The ExAC browser: displaying reference data information from over 60 000 exomes.

    Published in:
    Nucleic Acids Research, 2017, v. 45, n. D1, p. D840, doi. 10.1093/nar/gkw971
    By:
    • Karczewski, Konrad J.;
    • Weisburd, Ben;
    • Thomas, Brett;
    • Solomonson, Matthew;
    • Ruderfer, Douglas M.;
    • Kavanagh, David;
    • Hamamsy, Tymor;
    • Lek, Monkol;
    • Samocha, Kaitlin E.;
    • Cummings, Beryl B.;
    • Birnbaum, Daniel;
    • Daly, Mark J.;
    • MacArthur, Daniel G.
    Publication type:
    Article
    6

    The contribution of X-linked coding variation to severe developmental disorders.

    Published in:
    Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-020-20852-3
    By:
    • Martin, Hilary C.;
    • Gardner, Eugene J.;
    • Samocha, Kaitlin E.;
    • Kaplanis, Joanna;
    • Akawi, Nadia;
    • Sifrim, Alejandro;
    • Eberhardt, Ruth Y.;
    • Tavares, Ana Lisa Taylor;
    • Neville, Matthew D. C.;
    • Niemi, Mari E. K.;
    • Gallone, Giuseppe;
    • McRae, Jeremy;
    • Deciphering Developmental Disorders Study;
    • Borras, Silvia;
    • Clark, Caroline;
    • Dean, John;
    • Miedzybrodzka, Zosia;
    • Ross, Alison;
    • Tennant, Stephen;
    • Dabir, Tabib
    Publication type:
    Article
    7

    Patterns and rates of exonic de novo mutations in autism spectrum disorders.

    Published in:
    Nature, 2012, v. 485, n. 7397, p. 242, doi. 10.1038/nature11011
    By:
    • Neale, Benjamin M.;
    • Kou, Yan;
    • Liu, Li;
    • Ma'ayan, Avi;
    • Samocha, Kaitlin E.;
    • Sabo, Aniko;
    • Lin, Chiao-Feng;
    • Stevens, Christine;
    • Wang, Li-San;
    • Makarov, Vladimir;
    • Polak, Paz;
    • Yoon, Seungtai;
    • Maguire, Jared;
    • Crawford, Emily L.;
    • Campbell, Nicholas G.;
    • Geller, Evan T.;
    • Valladares, Otto;
    • Schafer, Chad;
    • Liu, Han;
    • Zhao, Tuo
    Publication type:
    Article
    8
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    11

    Contribution of retrotransposition to developmental disorders.

    Published in:
    Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12520-y
    By:
    • Gardner, Eugene J.;
    • Prigmore, Elena;
    • Gallone, Giuseppe;
    • Danecek, Petr;
    • Samocha, Kaitlin E.;
    • Handsaker, Juliet;
    • Gerety, Sebastian S.;
    • Ironfield, Holly;
    • Short, Patrick J.;
    • Sifrim, Alejandro;
    • Singh, Tarjinder;
    • Chandler, Kate E.;
    • Clement, Emma;
    • Lachlan, Katherine L.;
    • Prescott, Katrina;
    • Rosser, Elisabeth;
    • FitzPatrick, David R.;
    • Firth, Helen V.;
    • Hurles, Matthew E.
    Publication type:
    Article