Found: 11

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  • Genome-wide patterns and properties of de novo mutations in humans.

    Published in:
    Nature Genetics, 2015, v. 47, n. 7, p. 822, doi. 10.1038/ng.3292
    By:
    • Francioli, Laurent C;
    • Menelaou, Androniki;
    • Renkens, Ivo;
    • Kloosterman, Wigard P;
    • Guryev, Victor;
    • Arndt, Peter F;
    • de Bakker, Paul I W;
    • Polak, Paz P;
    • Chun, Sung;
    • Sunyaev, Shamil R;
    • Koren, Amnon;
    • van Duijn, Cornelia M;
    • Swertz, Morris;
    • Wijmenga, Cisca;
    • van Ommen, Gertjan;
    • Slagboom, P Eline;
    • Boomsma, Dorret I;
    • Ye, Kai
    Publication type:
    Article

  • Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of The Netherlands'.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1321, doi. 10.1038/ejhg.2014.19
    By:
    • Deelen, Patrick;
    • Menelaou, Androniki;
    • van Leeuwen, Elisabeth M;
    • Kanterakis, Alexandros;
    • van Dijk, Freerk;
    • Medina-Gomez, Carolina;
    • Francioli, Laurent C;
    • Hottenga, Jouke Jan;
    • Karssen, Lennart C;
    • Estrada, Karol;
    • Kreiner-Møller, Eskil;
    • Rivadeneira, Fernando;
    • van Setten, Jessica;
    • Gutierrez-Achury, Javier;
    • Westra, Harm-Jan;
    • Franke, Lude;
    • van Enckevort, David;
    • Dijkstra, Martijn;
    • Byelas, Heorhiy;
    • van Duijn, Cornelia M
    Publication type:
    Article

  • The Genome of the Netherlands: design, and project goals.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 2, p. 221, doi. 10.1038/ejhg.2013.118
    By:
    • Boomsma, Dorret I;
    • Wijmenga, Cisca;
    • Slagboom, Eline P;
    • Swertz, Morris A;
    • Karssen, Lennart C;
    • Abdellaoui, Abdel;
    • Ye, Kai;
    • Guryev, Victor;
    • Vermaat, Martijn;
    • van Dijk, Freerk;
    • Francioli, Laurent C;
    • Hottenga, Jouke Jan;
    • Laros, Jeroen F J;
    • Li, Qibin;
    • Li, Yingrui;
    • Cao, Hongzhi;
    • Chen, Ruoyan;
    • Du, Yuanping;
    • Li, Ning;
    • Cao, Sujie
    Publication type:
    Article

  • A high-quality human reference panel reveals the complexity and distribution of genomic structural variants.

    Published in:
    Nature Communications, 2016, v. 7, n. 10, p. 12989, doi. 10.1038/ncomms12989
    By:
    • Hehir-Kwa, Jayne Y.;
    • Marschall, Tobias;
    • Kloosterman, Wigard P.;
    • Francioli, Laurent C.;
    • Baaijens, Jasmijn A.;
    • Dijkstra, Louis J.;
    • Abdellaoui, Abdel;
    • Koval, Vyacheslav;
    • Thung, Djie Tjwan;
    • Wardenaar, René;
    • Renkens, Ivo;
    • Coe, Bradley P.;
    • Deelen, Patrick;
    • de Ligt, Joep;
    • Lameijer, Eric-Wubbo;
    • van Dijk, Freerk;
    • Hormozdiari, Fereydoun;
    • Uitterlinden, André G.;
    • van Duijn, Cornelia M.;
    • Eichler, Evan E.
    Publication type:
    Article

  • A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 22, p. 6081, doi. 10.1093/hmg/ddu307
    By:
    • Kuiper, Jonas J.W.;
    • Van Setten, Jessica;
    • Ripke, Stephan;
    • Van ‘T Slot, Ruben;
    • Mulder, Flip;
    • Missotten, Tom;
    • Baarsma, G. Seerp;
    • Francioli, Laurent C.;
    • Pulit, Sara L.;
    • De Kovel, Carolien G.F.;
    • Ten Dam-Van Loon, Ninette;
    • Den Hollander, Anneke I.;
    • Huis in het Veld, Paulien;
    • Hoyng, Carel B.;
    • Cordero-Coma, Miguel;
    • Martín, Javier;
    • Llorenç, Victor;
    • Arya, Bharti;
    • Thomas, Dhanes;
    • Bakker, Steven C.
    Publication type:
    Article

  • Deleterious Alleles in the Human Genome Are on Average Younger Than Neutral Alleles of the Same Frequency.

    Published in:
    PLoS Genetics, 2013, v. 9, n. 1, p. 1, doi. 10.1371/journal.pgen.1003301
    By:
    • Kiezun, Adam;
    • Pulit, Sara L.;
    • Francioli, Laurent C.;
    • van Dijk, Freerk;
    • Swertz, Morris;
    • Boomsma, Dorret I.;
    • van Duijn, Cornelia M.;
    • Slagboom, P. Eline;
    • van Ommen, G. J. B.;
    • Wijmenga, Cisca;
    • de Bakker, Paul I. W.;
    • Sunyaev, Shamil R.
    Publication type:
    Article

  • The role of de novo mutations in the development of amyotrophic lateral sclerosis.

    Published in:
    Human Mutation, 2017, v. 38, n. 11, p. 1534, doi. 10.1002/humu.23295
    By:
    • Doormaal, Perry T.C.;
    • Ticozzi, Nicola;
    • Weishaupt, Jochen H.;
    • Kenna, Kevin;
    • Diekstra, Frank P.;
    • Verde, Federico;
    • Andersen, Peter M.;
    • Dekker, Annelot M.;
    • Tiloca, Cinzia;
    • Marroquin, Nicolai;
    • Overste, Daniel J.;
    • Pensato, Viviana;
    • Nürnberg, Peter;
    • Pulit, Sara L.;
    • Schellevis, Raymond D.;
    • Calini, Daniela;
    • Altmüller, Janine;
    • Francioli, Laurent C.;
    • Muller, Bernard;
    • Castellotti, Barbara
    Publication type:
    Article

  • Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes.

    Published in:
    2021
    By:
    • Wang, Qingbo;
    • Pierce-Hoffman, Emma;
    • Cummings, Beryl B.;
    • Alföldi, Jessica;
    • Francioli, Laurent C.;
    • Gauthier, Laura D.;
    • Hill, Andrew J.;
    • O'Donnell-Luria, Anne H.;
    • Genome Aggregation Database Production Team;
    • Armean, Irina M.;
    • Banks, Eric;
    • Bergelson, Louis;
    • Cibulskis, Kristian;
    • Collins, Ryan L.;
    • Connolly, Kristen M.;
    • Covarrubias, Miguel;
    • Daly, Mark J.;
    • Donnelly, Stacey;
    • Farjoun, Yossi;
    • Ferriera, Steven
    Publication type:
    Correction Notice

  • Author Correction: Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.

    Published in:
    2021
    By:
    • Whiffin, Nicola;
    • Karczewski, Konrad J.;
    • Zhang, Xiaolei;
    • Chothani, Sonia;
    • Smith, Miriam J.;
    • Evans, D. Gareth;
    • Roberts, Angharad M.;
    • Quaife, Nicholas M.;
    • Schafer, Sebastian;
    • Rackham, Owen;
    • Alföldi, Jessica;
    • O'Donnell-Luria, Anne H.;
    • Francioli, Laurent C.;
    • Genome Aggregation Database Production Team;
    • Armean, Irina M.;
    • Banks, Eric;
    • Bergelson, Louis;
    • Cibulskis, Kristian;
    • Collins, Ryan L.;
    • Connolly, Kristen M.
    Publication type:
    Correction Notice

  • Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes.

    Published in:
    Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-019-12438-5
    By:
    • Wang, Qingbo;
    • Pierce-Hoffman, Emma;
    • Cummings, Beryl B.;
    • Alföldi, Jessica;
    • Francioli, Laurent C.;
    • Gauthier, Laura D.;
    • Hill, Andrew J.;
    • O'Donnell-Luria, Anne H.;
    • Genome Aggregation Database Production Team;
    • Armean, Irina M.;
    • Banks, Eric;
    • Bergelson, Louis;
    • Cibulskis, Kristian;
    • Collins, Ryan L.;
    • Connolly, Kristen M.;
    • Covarrubias, Miguel;
    • Daly, Mark J.;
    • Donnelly, Stacey;
    • Farjoun, Yossi;
    • Ferriera, Steven
    Publication type:
    Article

  • Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.

    Published in:
    Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-019-10717-9
    By:
    • Whiffin, Nicola;
    • Karczewski, Konrad J.;
    • Zhang, Xiaolei;
    • Chothani, Sonia;
    • Smith, Miriam J.;
    • Evans, D. Gareth;
    • Roberts, Angharad M.;
    • Quaife, Nicholas M.;
    • Schafer, Sebastian;
    • Rackham, Owen;
    • Alföldi, Jessica;
    • O'Donnell-Luria, Anne H.;
    • Francioli, Laurent C.;
    • Genome Aggregation Database Production Team;
    • Armean, Irina M.;
    • Banks, Eric;
    • Bergelson, Louis;
    • Cibulskis, Kristian;
    • Collins, Ryan L.;
    • Connolly, Kristen M.
    Publication type:
    Article