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European Journal of Human Genetics : EJHG|October 2, 2014
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variantsBeatriz Paumard-Hernández, Julia Berges-Soria, Eva Barroso, et al.
European Journal of Human Genetics : EJHG|October 2, 2014
Homogeneous case subgroups increase power in genetic association studiesMatthew Traylor, Hugh Markus, Cathryn M Lewis
European Journal of Human Genetics : EJHG|October 9, 2014
Genome-wide scan identifies a copy number variable region at 3p21.1 that influences the TLR9 expression levels in IgA nephropathy patientsFabio Sallustio, Sharon N Cox, Grazia Serino, et al.
European Journal of Human Genetics : EJHG|October 9, 2014
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiencyMonika Oláhová, Tobias B Haack, Charlotte L Alston, et al.
European Journal of Human Genetics : EJHG|September 11, 2014
Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended familyAgnete Jørgensen, Toril Fagerheim, Svend Rand-Hendriksen, et al.
European Journal of Human Genetics : EJHG|September 18, 2014
The dystrophin gene and cognitive function in the general populationDina Vojinovic, Hieab H H Adams, Sven J van der Lee, et al.
European Journal of Human Genetics : EJHG|September 18, 2014
Prospective risk of cancer and the influence of tobacco use in carriers of the p16-Leiden germline variantThomas P Potjer, Heidi E Kranenburg, Wilma Bergman, et al.
European Journal of Human Genetics : EJHG|September 18, 2014
Folate-related polymorphisms in gastrointestinal stromal tumours: susceptibility and correlation with tumour characteristics and clinical outcomeSabrina Angelini, Gloria Ravegnini, Margherita Nannini, et al.
European Journal of Human Genetics : EJHG|September 18, 2014
Rethinking biobanking and translational medicine in the Netherlands: how the research process stands to matter for patient careConor M W Douglas, Philip Scheltens
European Journal of Human Genetics : EJHG|July 31, 2014
Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?Eric Pasmant, Béatrice Parfait, Armelle Luscan, et al.
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