Progress in deciphering the genetic architecture of human sensorineural hearing
impairment (SNHI) or loss, and multidisciplinary studies of mouse models, have led to the …

Genetic interactions identify combinations of genetic variants that impinge on phenotype.
With whole-genome sequence information available for thousands of individuals within a …

An emerging theme of studies with spontaneous, engineered and induced mutant mice is
that phenotypes often depend on genetic background, implying that genetic modifiers have …

Tight junctions in the cochlear duct are thought to compartmentalize endolymph and provide
structural support for the auditory neuroepithelium. The claudin family of genes is known to …

Methodological and conceptual advances in human genetics have led to the identification of
an impressive number of human disease genes. This wealth of information has also …

Inherited retinal degenerations afflict 1 in 3,500 individuals and are a heterogeneous group
of diseases that result in profound vision loss, usually the result of retinal neuronal …

▪ Abstract Hereditary isolated hearing loss is genetically highly heterogeneous. Over 100
genes are predicted to cause this disorder in humans. Sixty loci have been reported and 24 …

Background Alport syndrome is a clinically heterogeneous, progressive nephropathy
caused by mutations in collagen IV genes, namely COL4A3 and COL4A4 on chromosome 2 …

Non‐syndromic deafness is a paradigm of genetic heterogeneity with 85 loci and 39 nuclear
disease genes reported so far. Autosomal‐recessive genes are responsible for about 80 …

Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1–
3% of the general population. Although research into the genetic causes of ID has recently …