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Human Molecular Genetics|April 12, 2012
Caffeine intake and CYP1A2 variants associated with high caffeine intake protect non-smokers from hypertensionIdris Guessous, Maria Dobrinas, Zoltán Kutalik, et al.
American Journal of Human Genetics|June 2, 2009
Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasiaAna Belinda Campos-Xavier, Danielle Martinet, John Bateman, et al.
European Journal of Human Genetics : EJHG|June 25, 2002
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapsesAvital Adato, Sarah Vreugde, Tarja Joensuu, et al.
Nature Genetics|December 27, 2011
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanomaSergey I Nikolaev, Donata Rimoldi, Christian Iseli, et al.
European Journal of Human Genetics : EJHG|June 26, 2003
CATSPER2, a human autosomal nonsyndromic male infertility geneNili Avidan, Hannah Tamary, Orly Dgany, et al.
JAMA Psychiatry|August 9, 2013
Influence of CRTC1 polymorphisms on body mass index and fat mass in psychiatric patients and the general adult populationEva Choong, Lina Quteineh, Jean-René Cardinaux, et al.
American Journal of Human Genetics|October 29, 2002
A highly significant association between a COMT haplotype and schizophreniaSagiv Shifman, Michal Bronstein, Meira Sternfeld, et al.
The Journal of Allergy and Clinical Immunology|November 27, 2015
IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammationFlorence Fellmann, Federica Angelini, Jacqueline Wassenberg, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|April 8, 2010
Fine mapping of AHI1 as a schizophrenia susceptibility gene: from association to evolutionary evidenceFederica Torri, Anna Akelai, Sara Lupoli, et al.
American Journal of Human Genetics|April 7, 2009
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3Jan Senderek, Sean M Garvey, Michael Krieger, et al.
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