Clinical Genetics

Mechanisms of Mendelian dominance

Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits

Application of next-generation sequencing to improve cancer management: A review of the clinical effectiveness and cost-effectiveness

Biallelic mutations in PMFBP1 cause acephalic spermatozoa

Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome

The genetic pathogenesis, diagnosis and therapeutic insight of rheumatoid arthritis

A familial study of twins with severe asthenozoospermia identified a homozygous SPAG17 mutation by whole-exome sequencing

Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome

Clinical genetic testing in pediatric cardiomyopathy: Is bigger better?

NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect