Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases
Although standards and guidelines for the interpretation of variants identified in genes that
cause Mendelian disorders have been developed, this is not the case for more complex …
cause Mendelian disorders have been developed, this is not the case for more complex …
Genetics of Hearing Impairment in North-Eastern Romania—A Cost-Effective Improved Diagnosis and Literature Review
Background: We have investigated the main genetic causes for non-syndromic hearing
impairment (NSHI) in the hearing impairment individuals from the North-Eastern Romania …
impairment (NSHI) in the hearing impairment individuals from the North-Eastern Romania …
Rescue of auditory function by a single administration of AAV-TMPRSS3 gene therapy in aged mice of human recessive deafness DFNB8
Patients with mutations in the TMPRSS3 gene suffer from recessive deafness
DFNB8/DFNB10. For these patients, cochlear implantation is the only treatment option. Poor …
DFNB8/DFNB10. For these patients, cochlear implantation is the only treatment option. Poor …
Molecular diagnose of a large hearing loss population from China by targeted genome sequencing
J Wu, Z Cao, Y Su, Y Wang, R Cai, J Chen… - Journal of Human …, 2022 - nature.com
Hereditary hearing loss is genetically heterogeneous, with diverse clinical manifestations.
Here we performed targeted genome sequencing of 227 hearing loss related genes in 1027 …
Here we performed targeted genome sequencing of 227 hearing loss related genes in 1027 …
Non-syndromic hearing loss: clinical and diagnostic challenges
B Vona, J Doll, MAH Hofrichter, T Haaf - Medizinische genetik, 2020 - degruyter.com
Hereditary hearing loss is clinically and genetically heterogeneous. There are presently over
120 genes that have been associated with non-syndromic hearing loss and many more that …
120 genes that have been associated with non-syndromic hearing loss and many more that …
Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome
M Zorn, J Kühnisch, S Bachmann, W Seifert - Scientific Reports, 2022 - nature.com
Autosomal recessive Cohen syndrome is a neurodevelopmental disorder characterized by
postnatal microcephaly, intellectual disability, and a typical facial gestalt. Genetic variants in …
postnatal microcephaly, intellectual disability, and a typical facial gestalt. Genetic variants in …
Cochlear Implantation Outcome in Children with DFNB1 locus Pathogenic Variants
Almost 60% of children with profound prelingual hearing loss (HL) have a genetic
determinant of deafness, most frequently two DFNB1 locus (GJB2/GJB6 genes) recessive …
determinant of deafness, most frequently two DFNB1 locus (GJB2/GJB6 genes) recessive …
Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene
AL Riza, C Alkhzouz, M Farcaș, A Pîrvu, D Miclea… - Genes, 2022 - mdpi.com
The genetic causes of autosomal recessive nonsyndromic hearing loss (ARNSHL) are
heterogeneous and highly ethnic-specific. We describe GJB2 (connexin 26) variants and …
heterogeneous and highly ethnic-specific. We describe GJB2 (connexin 26) variants and …
GJB2-RELATED NON-SYNDROMIC HEARING LOSS VARIANTS'SPECTRUM AND THEIR FREQUENCY IN TURKISH POPULATION
Objective: Hearing loss (HL) is one of the most prevalent chronic conditions in children and
has consequences in speech, language, education, and social functioning which impede …
has consequences in speech, language, education, and social functioning which impede …
Putative Digenic GJB2/MYO7A Inheritance of Hearing Loss Detected in a Patient with 48,XXYY Klinefelter Syndrome
Q Zhang, T Qin, W Hu, MU Janjua, P Jin - Human Heredity, 2021 - karger.com
Objectives: Nonsyndromic hearing loss (NSHL) is the most frequent type of hereditary
hearing impairment. Here, we explored the underlying genetic cause of NSHL in a three …
hearing impairment. Here, we explored the underlying genetic cause of NSHL in a three …