Recent advances in the molecular genetics of epilepsy
MS Hildebrand, HHM Dahl, JA Damiano… - Journal of medical …, 2013 - jmg.bmj.com
Recent advances in molecular genetics have translated into the increasing utilisation of
genetic testing in the routine clinical practice of neurologists. There has been a steady …
genetic testing in the routine clinical practice of neurologists. There has been a steady …
Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches
C Bonnet, A El-Amraoui - Current opinion in neurology, 2012 - journals.lww.com
Whereas the mechanisms underlying hearing impairment in USH patients are being
unraveled, showing in particular that USH1 proteins are involved in the shaping of the hair …
unraveled, showing in particular that USH1 proteins are involved in the shaping of the hair …
Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing
AE Shearer, AP DeLuca… - Proceedings of the …, 2010 - National Acad Sciences
The extreme genetic heterogeneity of nonsyndromic hearing loss (NSHL) makes genetic
diagnosis expensive and time consuming using available methods. To assess the feasibility …
diagnosis expensive and time consuming using available methods. To assess the feasibility …
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents
Hearing loss is the most common sensory deficit in humans with causative variants in over
140 genes. With few exceptions, however, the population-specific distribution for many of the …
140 genes. With few exceptions, however, the population-specific distribution for many of the …
Genetics: advances in genetic testing for deafness
AE Shearer, RJH Smith - Current opinion in pediatrics, 2012 - journals.lww.com
Deafness is the most common sensory deficit in humans. Genetic diagnosis has traditionally
been difficult due to extreme genetic heterogeneity and a lack of phenotypic variability. For …
been difficult due to extreme genetic heterogeneity and a lack of phenotypic variability. For …
Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients
M Miyagawa, T Naito, S Nishio, N Kamatani, S Usami - PloS one, 2013 - journals.plos.org
Target exon resequencing using Massively Parallel DNA Sequencing (MPS) is a new
powerful strategy to discover causative genes in rare Mendelian disorders such as …
powerful strategy to discover causative genes in rare Mendelian disorders such as …
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis
Background Usher syndrome (USH) combines sensorineural deafness with blindness. It is
inherited in an autosomal recessive mode. Early diagnosis is critical for adapted educational …
inherited in an autosomal recessive mode. Early diagnosis is critical for adapted educational …
Deafness in the genomics era
Our understanding of hereditary hearing loss has greatly improved since the discovery of the
first human deafness gene. These discoveries have only accelerated due to the great strides …
first human deafness gene. These discoveries have only accelerated due to the great strides …
DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss
The prevalence of DFNA8/DFNA12 (DFNA8/12), a type of autosomal dominant
nonsyndromic hearing loss (ADNSHL), is unknown as comprehensive population‐based …
nonsyndromic hearing loss (ADNSHL), is unknown as comprehensive population‐based …
A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR‐based approach and next generation sequencing
I Schrauwen, M Sommen… - American Journal of …, 2013 - Wiley Online Library
Implementing DNA diagnostics in clinical practice for extremely heterogeneous diseases
such as hearing loss is challenging, especially when attempting to reach high sensitivity and …
such as hearing loss is challenging, especially when attempting to reach high sensitivity and …