The SATB2‐associated syndrome is a recently described syndrome characterized by
developmental delay/intellectual disability with absent or limited speech development …

The etiology of non‐syndromic oral clefts (NSOFC) is complex with genetics, genomics,
epigenetics, and stochastics factors playing a role. Several approaches have been applied …

Alternative polyadenylation (APA) plays an essential role in brain development; however,
current transcriptome-wide association studies (TWAS) largely overlook APA in nominating …

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

Significant treatment variation exists in the Netherlands between teams treating patients with
cleft lip, alveolus, and/or palate, resulting in a confusing and undesirable situation for …

Background Exon-targeted microarrays can detect small (< 1000 bp) intragenic copy
number variants (CNVs), including those that affect only a single exon. This genome-wide …

Orofacial clefts (OFCs) are the most common congenital craniofacial anomaly seen in
humans. Most OFCs are sporadic and isolated-these are thought to be multifactorial in …

Non-syndromic orofacial clefts (NSOFCs) are common birth defects with a complex etiology.
While over 60 common risk loci have been identified, they explain only a small proportion of …

Each gene of the tubby-like family is characterized by a signature of C-terminal tubby
domain. The wide spread of this family in plants and animals implies they have an important …

Cleft lip with or without cleft palate (CL/P) is a common birth defect with a complex,
heterogeneous etiology. It is well established that common and rare sequence variants …