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Journal of Human Genetics|December 15, 2015
Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disabilitySilvia Moncini, Paola Castronovo, Alessandra Murgia, et al.Journal of Human Genetics|November 20, 2015
Clinical, biochemical and mutation profile in Indian patients with Sandhoff diseaseParag M Tamhankar, Mehul Mistri, Pratima Kondurkar, et al.Journal of Human Genetics|November 20, 2015
Birth weight modifies the association between central nervous system gene variation and adult body mass indexEdward A Ruiz-Narváez, Stephen A Haddad, Lynn Rosenberg, et al.Journal of Human Genetics|August 21, 2015
Associations of human leukocyte antigens with autoimmune diseases: challenges in identifying the mechanismHiroko Miyadera, Katsushi TokunagaJournal of Human Genetics|November 27, 2015
Coevolution of genes and languages and high levels of population structure among the highland populations of DaghestanTatiana M Karafet, Kazima B Bulayeva, Johanna Nichols, et al.Journal of Human Genetics|November 27, 2015
Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial featuresIris H I M Hollink, Majid Alfadhel, Anwar S Al-Wakeel, et al.Journal of Human Genetics|October 30, 2015
Ancient mitochondrial genome reveals trace of prehistoric migration in the east Pamir by pastoralistsChao Ning, Shizhu Gao, Boping Deng, et al.Journal of Human Genetics|October 30, 2015
The paternal ancestry of Uttarakhand does not imitate the classical caste system of IndiaNeetu Negi, Rakesh Tamang, Veena Pande, et al.Journal of Human Genetics|May 20, 2016
Novel European SLC1A4 variant: infantile spasms and population ancestry analysisJudith Conroy, Nicholas M Allen, Kathleen Gorman, et al.Journal of Human Genetics|May 20, 2016
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrumSébastien Moutton, Patricia Fergelot, Sophie Naudion, et al.Pageof 353