Velocardiofacial and DiGeorge syndromes, also known as 22q11.2 deletion syndrome (22q11DS),
are congenital-anomaly disorders caused by a de novo hemizygous 22q11.2 …

Hearing loss is a complex disorder caused by both genetic and environmental factors.
Previously, mutations in CIB2 have been identified as a common cause of genetic hearing loss in …

Next generation sequencing (NGS) technologies have revolutionized our approach to genomic
research. The use of whole genome sequencing (WGS), whole exome sequencing (WES…

Velo-cardio-facial syndrome/DiGeorge syndrome/22q11.2 deletion syndrome (22q11.2DS)
is caused by meiotic non-allelic homologous recombination events between flanking low …

To develop a novel pharmacogenetic genotyping panel, a multidisciplinary team evaluated
available evidence and selected 29 genes implicated in interindividual drug response …

Agnathia–otocephaly is a rare, often lethal malformation characterized by absence or
hypoplasia of the mandible, microstomia, hypoglossia/aglossia, and variable anterior midline …

Haploinsufficiency of the elastin gene (ELN) on 7q11.23 is responsible for supravalvular
aortic stenosis (SVAS) and other arteriopathies in patients with Williams–Beuren syndrome (…

We explored potential genetic risk factors implicated in nonalcoholic fatty liver disease (
NAFLD ) within a Caribbean–Hispanic population in New York City. A total of 316 individuals …

Background While next generation sequencing (NGS) is a useful tool for the identification of
genetic variants to aid diagnosis and support therapy decision, high sequencing costs have …

Primary hepatic small cell carcinoma (HSCC) is a rare malignancy that has previously been
described in only few case reports. The clinicopathological course, natural history, molecular …