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European Journal of Human Genetics : EJHG|October 27, 2016
A missense TGFB2 variant p.(Arg320Cys) causes a paradoxical and striking increase in aortic TGFB1/2 expressionRaya Al Maskari, Yasmin, S Cleary, et al.
European Journal of Human Genetics : EJHG|October 27, 2016
Joint association analysis of a binary and a quantitative trait in family samplesShuai Wang, James B Meigs, Josée Dupuis
European Journal of Human Genetics : EJHG|October 21, 2016
Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotypeFanny Morice-Picard, Giovanni Benard, Hamid R Rezvani, et al.
European Journal of Human Genetics : EJHG|December 8, 2016
Genetic and Molecular Analyses indicate independent effects of TGIFs on Nodal and Gli3 in neural tube patterningKenichiro Taniguchi, Anoush E Anderson, Tiffany A Melhuish, et al.
European Journal of Human Genetics : EJHG|December 1, 2016
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable conditionAlma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, et al.
European Journal of Human Genetics : EJHG|November 24, 2016
Variable expressivity and genetic heterogeneity involving DPT and SEMA3D genes in autosomal dominant familial Meniere's diseaseCarmen Martín-Sierra, Alvaro Gallego-Martinez, Teresa Requena, et al.
European Journal of Human Genetics : EJHG|November 24, 2016
A framework for the detection of de novo mutations in family-based sequencing dataLaurent C Francioli, Mircea Cretu-Stancu, Kiran V Garimella, et al.
European Journal of Human Genetics : EJHG|December 15, 2016
Prevalence, birth incidence, and penetrance of von Hippel-Lindau disease (vHL) in DenmarkMarie Louise Mølgaard Binderup, Michael Galanakis, Esben Budtz-Jørgensen, et al.
European Journal of Human Genetics : EJHG|December 15, 2016
Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutationsChing-Wan Lam, Ka-Sing Wong, Ho-Wan Leung, et al.
European Journal of Human Genetics : EJHG|January 31, 2008
The exon 1-8C/G SNP in the PSMA6 gene contributes only a small amount to the burden of myocardial infarction in 6946 cases and 2720 controls from a United Kingdom populationDerrick A Bennett, Peng Xu, Robert Clarke, et al.
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