Meckel–Gruber syndrome (MKS) is a lethal autosomal recessive congenital anomaly
syndrome caused by mutations in genes encoding proteins that are structural or functional …

The genetic etiologies of more than half of rare diseases remain unknown. Standardized
genome sequencing and phenotyping of large patient cohorts provide an opportunity for …

Joubert syndrome (JBTS) and Meckel-Gruber syndrome (MKS) are recessive
neurodevelopmental conditions caused by mutations in proteins that are structural or …

Purpose To investigate if specific exon 38 or 39 KMT2D missense variants (MVs) cause a
condition distinct from Kabuki syndrome type 1 (KS1). Methods Multiple individuals, with …

We have used whole-exome sequencing in ten individuals from four unrelated pedigrees to
identify biallelic missense mutations in the nuclear-encoded mitochondrial inorganic …

Mutations in the TMEM260 gene cause structural heart defects and renal anomalies
syndrome, but the function of the encoded protein remains unknown. We previously reported …

Background The genetic aetiology of neurodevelopmental defects is extremely diverse, and
the lack of distinctive phenotypic features means that genetic criteria are often required for …

Abstract DNAAF1 (LRRC50) is a cytoplasmic protein required for dynein heavy chain
assembly and cilia motility, and DNAAF1 mutations cause primary ciliary dyskinesia (PCD; …

Introduction KCTD15 encodes an oligomeric BTB domain protein reported to inhibit neural
crest formation through repression of Wnt/beta-catenin signalling, as well as transactivation …

Pathogenic loss-of-function variants in BGN, an X-linked gene encoding biglycan, are
associated with Meester-Loeys syndrome (MRLS), a thoracic aortic aneurysm/dissection …