subject area of
- A new highly penetrant form of obesity due to deletions on chromosome 16p11.2 Journal Articles
- Clinical follow-up of high mid-trimester maternal serum intact human chorionic gonadotrophin concentrations in singleton pregnancies Journal Articles
- Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus Journal Articles
- 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 Journal Articles
- Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants Journal Articles
- Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations Journal Articles
- Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects Journal Articles
- Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder Journal Articles
- Polymorphism in the CETP Gene Region, HDL Cholesterol, and Risk of Future Myocardial Infarction Journal Articles
- Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities Journal Articles
- Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p Journal Articles
- Still high risk? A review of translocation t(14;16) in multiple myeloma Journal Articles
- The Diagnosis and Prognosis of Autosomal Dominant Polycystic Kidney Disease Journal Articles
- Three New α-Thalassemia Point Mutations Ascertained Through Newborn Screening Journal Articles