Genetics In Medicine

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing

Impact of NUDT15 genetics on severe thiopurine-related hematotoxicity in patients with European ancestry

Current conditions in medical genetics practice

The proportion of endometrial cancers associated with Lynch syndrome: a systematic review of the literature and meta-analysis

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction

Multi-site investigation of strategies for the clinical implementation of CYP2D6 genotyping to guide drug prescribing

Phenotypic expansion illuminates multilocus pathogenic variation

Autozygome and high throughput confirmation of disease genes candidacy