Pathological assessment of mismatch repair gene variants in Lynch syndrome: Past, present, and future
ALX4 gain-of-function mutations in nonsyndromic craniosynostosis
Exploratory data from complete genomes of familial alzheimer disease age-at-onset outliers
Mutations of ANK3 identified by exome sequencing are associated with Autism susceptibility
A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder
Functional characterization of MLH1 missense variants identified in lynch syndrome patients
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome
Identification of fifteen novel germline variants in the BRCA1 3′UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site
Functional analysis of TCF4 missense mutations that cause Pitt–Hopkins syndrome
Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 ( NF1 ) gene
Validation of a quantitative PCR–high-resolution melting protocol for simultaneous screening of COL1A1 and COL1A2 point mutations and large rearrangements: Application for diagnosis of osteogenesis imperfecta
Use of support vector machines for disease risk prediction in genome-wide association studies: Concerns and opportunities