Age-of-onset by genotype and familial pattern.

Primary cohort characteristics (n = 49 probands).

Regions of interest with LOD > 1 in both families.

This study aimed to identify the underlying molecular genetic cause in four Spanish families clinically diagnosed of Retinitis Pigmentosa (RP), comprising one autosomal dominant...

Hereditary hearing loss (HL) is a common sensory disorder, with an incidence of 1–2 per 1000 newborns, and has a genetic etiology in over 50% of cases. It occurs either as part...

See S3 Table for all tested markers.

Given prior evidence that an affected woman conveys a higher risk of ovarian cancer to her sister than to her mother, we hypothesized that there exists an X-linked variant...

Rates of granddaughter cancer in grandmother-granddaughter pairs.

# Consanguineous family †Previously reported by Maugeri et al. [24] in a Stargardt patient in heterozygous state.‡Previously reported by Lewis et al. [25] in a Stargardt...

Sex of affected fetuses. PCR products with 119 bp and 216 bp were amplified using the primer pairs for the Y chromosome and GAPDH, respectively. Lanes 1 to 9: affected...

The neuronal ceroid-lipofuscinoses (NCL) is a group of neurodegenerative disorders characterized by epilepsy, visual failure, progressive mental and motor deterioration,...

Childhood apraxia of speech (CAS) is a severe and socially debilitating form of speech sound disorder with suspected genetic involvement, but the genetic etiology is not yet...

Exome sequencing means that all protein-coding genes in a genome are sequenced. In Humans, there are ~180,000 exons that makes up 1% of the human genome which contain ~30...

Number of risk alleles in Family B members.

Number of risk alleles in Family A members.

Cancer rates given an affected daughter or sister.

Exome variants in the regions of interest based on linkage analysis results in 95%CI regions and regions with strongest evidence.

Disease causing variants and variants of uncertain significance in HL probands.