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Exome sequence analysis and follow up genotyping implicates rare ULK1 variants to be involved in susceptibility to schizophrenia
Recurrence of reported CDH23 mutations causing DFNB12 in a special cohort of South Indian hearing impaired assortative mating families – an evaluation
Silenced DMBT1 promotes nasal mucosa epithelial cell growth
Parent-of-origin-environment interactions in case-parent triads with or without independent controls
The MOSAICC study: Assessing feasibility for biological sample collection in epidemiology studies and comparison of DNA yields from saliva and whole blood samples
How many cases of disease in a pedigree imply familial disease?
Influence of Apolipoprotein E polymorphism on susceptibility of Wilson disease
Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family
Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs
Construction of an Exome-Wide Risk Score for Schizophrenia Based on a Weighted Burden Test
Evaluation of a Role for NPY and NPY2R in the Pathogenesis of Obesity by Mutation and Copy Number Variation Analysis in Obese Children and Adolescents
Apolipoprotein E Polymorphism and Left Ventricular Failure in Beta-Thalassemia: A Multivariate Meta-Analysis
Macrophage Migration Inhibitory Factor (MIF) Gene Promotor Polymorphism Is Associated with Increased Fibrosis in Biliary Atresia Patients, but Not with Disease Susceptibility
Studies on N-Acetyltransferase (NAT2) Genotype Relationships in Emiratis: Confirmation of the Existence of Phenotype Variation among Slow Acetylators
Differentiating the Cochran-Armitage Trend Test and Pearson's χ2 Test: Location and Dispersion
Molecular Characterisation of α- and β-Thalassaemia among Indigenous Senoi Orang Asli Communities in Peninsular Malaysia
A Complete Association of an intronic SNP rs6798742 with Origin of Spinocerebellar Ataxia Type 7-CAG Expansion Loci in the Indian and Mexican Population
E. B. Robson, PhD (1928- 2016). Galton Professor of Human Genetics, University College London and Editor-in-Chief of the Annals of Human Genetics, died July 18th 2016
Autosomal Recessive Nonsyndromic Arrhythmogenic Right Ventricular Cardiomyopathy without Cutaneous Involvements: A Novel Mutation
Variants in 9p21 Predicts Severity of Coronary Artery Disease in a Chinese Han Population
Circulating MicroRNAs and Life Expectancy Among Identical Twins
Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma
A Three-Way Interaction among Maternal and Fetal Variants Contributing to Congenital Heart Defects
New Mutations Associated with Rasopathies in a Central European Population and Genotype–Phenotype Correlations
The Quantitative-MFG Test: A Linear Mixed Effect Model to Detect Maternal-Offspring Gene Interactions
Glutathione S-Transferase M1 and T1 Gene Polymorphisms and the Outcome of Chronic Hepatitis C Virus Infection in Egyptian Patients
Preeclampsia is Associated with Decreased Methylation of the GNA12 Promoter
Practical Experience of the Application of a Weighted Burden Test to Whole Exome Sequence Data for Obesity and Schizophrenia
Ficolin Gene Polymorphisms in Systemic Lupus Erythematosus and Rheumatoid Arthritis
Recent Radiation of R-M269 and High Y-STR Haplotype Resemblance Confirmed
Maternal Genetic Heritage of Southeastern Europe Reveals a New Croatian Isolate and a Novel, Local Sub-Branching in the X2 Haplogroup
Surnames in Honduras: A Study of the Population of Honduras through Isonymy
Promoter Methylation of the RASSF1A Gene may Contribute to Colorectal Cancer Susceptibility: A Meta-Analysis of Cohort Studies
Novel Variants in the MC4R and LEPR Genes among Severely Obese Children from the Iberian Population