Practical Guidelines Addressing Ethical Issues Pertaining to the Curation of Human Locus-Specific Variation Databases (LSDBs)
NKX2-5: An Update on this Hypermutable Homeodomain Protein and its Role in Human Congenital Heart Disease (CHD)
miRNA Genes and the Brain: Implications for Psychiatric Disorders
Leiden Open Variation Database of the MUTYH Gene
Development of NIPBL Locus-Specific Database Using LOVD: From Novel Mutations to Further Genotype-Phenotype Correlations in Cornelia de Lange Syndrome
MicroSNiPer: A Web Tool for Prediction of SNP Effects on Putative microRNA Targets
Musculocontractural Ehlers-Danlos Syndrome (Former EDS Type VIB) and Adducted Thumb Clubfoot Syndrome (ATCS) Represent a Single Clinical Entity Caused by Mutations in the Dermatan-4-sulfotransferase 1 Encoding CHST14 Gene
Experience with Carrier Screening and Prenatal Diagnosis for 16 Ashkenazi Jewish Genetic Diseases
Molecular Mechanisms Leading to Null-Protein Product from Retinoschisin (RS1) Signal-Sequence Mutants in X-Linked Retinoschisis (XLRS) Disease
Missense Mutations in the Sodium Borate Cotransporter SLC4A11 Cause Late-Onset Fuchs Corneal Dystrophy
Mutation Spectrum of EYS in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa
LQTS Gene LOVD Database
Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France
A Novel Germline CDKN1B Mutation Causing Multiple Endocrine Tumors: Clinical, Genetic and Functional Characterization
Cerebral Arterial Stenoses and Stroke: Novel Features of Aicardi-Goutières Syndrome Caused by the Arg164X Mutation in SAMHD1 Are Associated with Altered Cytokine Expression
Identification of FOXP1 Deletions in Three Unrelated Patients with Mental Retardation and Significant Speech and Language Deficits
Adenine DNA Glycosylase Activity of 14 Human MutY Homolog (MUTYH) Variant Proteins Found in Patients with Colorectal Polyposis and Cancer
▪ One of the Reasons Why Humans, and not Sponges or Worms, get Psychiatric Disorders?
▪ Expanded Carrier Screening in the Ashkenazi Jewish Population