subject area of
- A new highly penetrant form of obesity due to deletions on chromosome 16p11.2 Academic Article
- Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus Academic Article
- Core binding factor beta (CBFB) haploinsufficiency due to an interstitial deletion at 16q21q22 resulting in delayed cranial ossification, cleft palate, congenital heart anomalies, and feeding difficulties but favorable outcome Academic Article
- Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants Academic Article
- Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations Academic Article
- Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects Academic Article
- Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder Academic Article
- Polymorphism in the CETP Gene Region, HDL Cholesterol, and Risk of Future Myocardial Infarction Academic Article
- Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities Academic Article
- Rare Genomic Structural Variants in Complex Disease: Lessons from the Replication of Associations with Obesity Academic Article
- Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p Academic Article
- The Diagnosis and Prognosis of Autosomal Dominant Polycystic Kidney Disease Academic Article
- Three New α-Thalassemia Point Mutations Ascertained Through Newborn Screening Academic Article
- Variation in FTO contributes to childhood obesity and severe adult obesity Academic Article