Integrated evaluation of CHD7 missense substitutions for CHARGE syndrome clinical genetics
Tandem repeat polymorphisms as modulators of biological function and dysfunction
In memory of David L. Rimoin, MD, PhD (1936–2012)
Mutation update on the CHD7 gene involved in CHARGE syndrome
Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants
PON-P: Integrated predictor for pathogenicity of missense variants †
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis
LTBP2 mutations cause Weill–Marchesani and Weill–Marchesani-like syndrome and affect disruptions in the extracellular matrix
Paralogous annotation of disease-causing variants in long QT syndrome genes
SURF1 -associated leigh syndrome: A case series and novel mutations
A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia
Molecular and biochemical characterization of a unique mutation in CCS , the human copper chaperone to superoxide dismutase
Differential effects of AKT1(p.E17K) expression on human mammary luminal epithelial and myoepithelial cells
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico / in vitro studies on BRCA1 and BRCA2 variants
Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients
A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis
Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis
Functional analysis of nonsynonymous single nucleotide polymorphisms in human SLC26A9
Mitochondrial tRNA mutations are associated with maternally inherited hypertension in two Han Chinese pedigrees
Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients
Tandem repeat sequence variation as causative Cis -eQTLs for protein-coding gene expression variation: The case of CSTB
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies