A major contribution to the genome variability among individuals comes from deletions and
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …

Orofacial clefts (OFCs) rank as the second most common congenital birth defect in the
United States after Down syndrome and are the most common head and neck congenital …

Orofacial clefts are common birth defects and can occur as isolated, nonsyndromic events or
as part of Mendelian syndromes. There is substantial phenotypic diversity in individuals with …

Isolated cleft palate (CPO) is the rarest form of oral clefting. The incidence of CPO varies
substantially by geography from 1.3 to 25.3 per 10,000 live births, with the highest rates in …

Defects in patterning during human embryonic development frequently result in craniofacial
abnormalities. The gene regulatory programs that build the craniofacial complex are likely …

Although genome-wide association studies (GWASs) for nonsyndromic orofacial clefts have
identified multiple strongly associated regions, the causal variants are unknown. To address …

Cleft lip and/or cleft palate (CL/P) collectively are well known as being amongst the most
common birth defects but we still have difficulty explaining why the majority of cases occur …

Non-syndromic cleft lip with or without cleft palate (NS-CL/P) is one of the most common
human birth defects and is generally considered a complex trait. Despite numerous loci …

Palatogenesis involves the initiation, growth, morphogenesis, and fusion of the primary and
secondary palatal shelves from initially separate facial prominences during embryogenesis …

Nonsyndromic orofacial cleft (NSOFC) is a severe birth defect that occurs early in embryonic
development and includes the subtypes cleft palate only (CPO), cleft lip only (CLO) and cleft …