Found: 7

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  • Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.

    Published in:
    2017
    By:
    • Nibbeling, Esther A. R.;
    • Duarri, Anna;
    • Verschuuren-Bemelmans, Corien C.;
    • Fokkens, Michiel R.;
    • Karjalainen, Juha M.;
    • Smeets, Cleo J. L. M.;
    • de Boer-Bergsma, Jelkje J.;
    • van der Vries, Gerben;
    • Dooijes, Dennis;
    • Bampi, Giovana B.;
    • Diemen, Cleo van;
    • Brunt, Ewout;
    • Ippel, Elly;
    • Kremer, Berry;
    • Vlak, Monique;
    • Adir, Noam;
    • Wijmenga, Cisca;
    • van de Warrenburg, Bart P. C.;
    • Franke, Lude;
    • Sinke, Richard J.
    Publication type:
    journal article

  • Gene expression analysis identifies global gene dosage sensitivity in cancer.

    Published in:
    Nature Genetics, 2015, v. 47, n. 2, p. 115, doi. 10.1038/ng.3173
    By:
    • Fehrmann, Rudolf S N;
    • Simeonov, Anton;
    • Wijmenga, Cisca;
    • Franke, Lude;
    • Krajewska, Małgorzata;
    • Hirschhorn, Joel N;
    • Schultes, Erik A;
    • van Haagen, Herman H H B M;
    • Westra, Harm-Jan;
    • te Meerman, Gerard J;
    • Maloney, David;
    • Jansen, Ritsert C;
    • Karjalainen, Juha M;
    • de Vries, Elisabeth G E;
    • van Vugt, Marcel A T M;
    • Pers, Tune H
    Publication type:
    Article

  • Genome-wide association analyses identify variants in developmental genes associated with hypospadias.

    Published in:
    Nature Genetics, 2014, v. 46, n. 9, p. 957, doi. 10.1038/ng.3063
    By:
    • Geller, Frank;
    • Feenstra, Bjarke;
    • Carstensen, Lisbeth;
    • Pers, Tune H;
    • van Rooij, Iris A L M;
    • Körberg, Izabella Baranowska;
    • Choudhry, Shweta;
    • Karjalainen, Juha M;
    • Schnack, Tine H;
    • Hollegaard, Mads V;
    • Feitz, Wout F J;
    • Roeleveld, Nel;
    • Hougaard, David M;
    • Hirschhorn, Joel N;
    • Franke, Lude;
    • Baskin, Laurence S;
    • Nordenskjöld, Agneta;
    • van der Zanden, Loes F M;
    • Melbye, Mads
    Publication type:
    Article

  • Publisher Correction: Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.

    Published in:
    2023
    By:
    • Oddsson, Asmundur;
    • Sulem, Patrick;
    • Sveinbjornsson, Gardar;
    • Arnadottir, Gudny A.;
    • Steinthorsdottir, Valgerdur;
    • Halldorsson, Gisli H.;
    • Atlason, Bjarni A.;
    • Oskarsson, Gudjon R.;
    • Helgason, Hannes;
    • Nielsen, Henriette Svarre;
    • Westergaard, David;
    • Karjalainen, Juha M.;
    • Katrinardottir, Hildigunnur;
    • Fridriksdottir, Run;
    • Jensson, Brynjar O.;
    • Tragante, Vinicius;
    • Ferkingstad, Egil;
    • Jonsson, Hakon;
    • Gudjonsson, Sigurjon A.;
    • Beyter, Doruk
    Publication type:
    Correction Notice

  • Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.

    Published in:
    Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-38951-2
    By:
    • Oddsson, Asmundur;
    • Sulem, Patrick;
    • Sveinbjornsson, Gardar;
    • Arnadottir, Gudny A.;
    • Steinthorsdottir, Valgerdur;
    • Halldorsson, Gisli H.;
    • Atlason, Bjarni A.;
    • Oskarsson, Gudjon R.;
    • Helgason, Hannes;
    • Nielsen, Henriette Svarre;
    • Westergaard, David;
    • Karjalainen, Juha M.;
    • Katrinardottir, Hildigunnur;
    • Fridriksdottir, Run;
    • Jensson, Brynjar O.;
    • Tragante, Vinicius;
    • Ferkingstad, Egil;
    • Jonsson, Hakon;
    • Gudjonsson, Sigurjon A.;
    • Beyter, Doruk
    Publication type:
    Article

  • Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis.

    Published in:
    Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10649-4
    By:
    • Deelen, Patrick;
    • van Dam, Sipko;
    • Herkert, Johanna C.;
    • Karjalainen, Juha M.;
    • Brugge, Harm;
    • Abbott, Kristin M.;
    • van Diemen, Cleo C.;
    • van der Zwaag, Paul A.;
    • Gerkes, Erica H.;
    • Zonneveld-Huijssoon, Evelien;
    • Boer-Bergsma, Jelkje J.;
    • Folkertsma, Pytrik;
    • Gillett, Tessa;
    • van der Velde, K. Joeri;
    • Kanninga, Roan;
    • van den Akker, Peter C.;
    • Jan, Sabrina Z.;
    • Hoorntje, Edgar T.;
    • te Rijdt, Wouter P.;
    • Vos, Yvonne J.
    Publication type:
    Article

  • Biological interpretation of genome-wide association studies using predicted gene functions.

    Published in:
    Nature Communications, 2015, v. 6, n. 1, p. 5890, doi. 10.1038/ncomms6890
    By:
    • Pers, Tune H.;
    • Karjalainen, Juha M.;
    • Chan, Yingleong;
    • Westra, Harm-Jan;
    • Wood, Andrew R.;
    • Yang, Jian;
    • Lui, Julian C.;
    • Vedantam, Sailaja;
    • Gustafsson, Stefan;
    • Esko, Tonu;
    • Frayling, Tim;
    • Speliotes, Elizabeth K.;
    • Boehnke, Michael;
    • Raychaudhuri, Soumya;
    • Fehrmann, Rudolf S. N.;
    • Hirschhorn, Joel N.;
    • Franke, Lude
    Publication type:
    Article