Associated Papers
Analyses of GJB2 status in hereditary and non-syndromic hearing loss cases in Turkey reveal pathogenicity of rare c.247_249delTTC variant.
Tümer S et al.
International Journal of Pediatric Otorhinolaryngology, 2026
GJB2-Related Hearing Loss: Genotype-Phenotype Correlations, Natural History, and Emerging Therapeutic Strategies.
Morris JA et al.
International Journal of Molecular Sciences, 2026
Pilot Study of Preconception Carrier Screening in Russia: Initial Findings and Challenges.
Glotov AS et al.
Genes, 2025
Exome sequencing reveals new insights into the germline landscape of inflammatory breast cancer among Tunisian patients.
Boujemaa M et al.
Journal of Translational Medicine, 2025
Unlocking uterine biology at home: a validated system for DNA, RNA, and microbial analysis from menstrual effluence.
Gire S et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Cochlear Implantation Outcomes in Genotyped Subjects with Sensorineural Hearing Loss.
Fehrmann MLA et al.
Journal of the Association for Research in Otolaryngology : Jaro, 2025
Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies.
Marinakis NM et al.
European Journal of Human Genetics : Ejhg, 2025
The curious case of a heterozygous loss-of-function PSEN1 variant associated with early-onset Alzheimer's disease.
Sanjuan-Ruiz I et al.
Molecular Neurodegeneration Advances, 2025
Expanding families: a pilot study on preconception expanded carrier screening in Bahrain.
Skrypnyk C et al.
Bmc Pregnancy and Childbirth, 2024
WES-based screening of 7,000 newborns: A pilot study in Russia.
Shubina J et al.
Hgg Advances, 2024
Investigation of Targeted Genes and Identification of Novel Variants with Next Generation Sequencing Method in Hearing Loss.
Zhuri D et al.
The Journal of International Advanced Otology, 2024
Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia.
Sansović I et al.
Croatian Medical Journal, 2024
High prevalence of syndromic hearing loss in Mexican children undergoing cochlear implantation.
Rodriguez-Valero M et al.
Laryngoscope Investigative Otolaryngology, 2024
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
Hidradenitis Suppurativa-Related Autoinflammatory Syndromes: An Updated Review on the Clinics, Genetics, and Treatment of Pyoderma gangrenosum, Acne and Suppurative Hidradenitis (PASH), Pyogenic Arthritis, Pyoderma gangrenosum, Acne and Suppurative Hidradenitis (PAPASH), Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis (SAPHO), and Rarer Forms.
Maronese CA et al.
Dermatologic Clinics, 2024
Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half.
Bar O et al.
International Journal of Molecular Sciences, 2024
Unraveling the Diversity of GJB2 Mutations in Nonsyndromic Hearing Loss: A Comprehensive Study in the Moroccan Population.
El Fizazi K et al.
Audiology & Neuro-otology, 2024
Discovery of a Novel Shared Variant Among RTEL1 Gene and RTEL1-TNFRSF6B lncRNA at Chromosome 20q13.33 in Familial Progressive Myoclonus Epilepsy.
Chaudhari S et al.
International Journal of Genomics, 2024
Hearing and Hearing Loss Progression in Patients with GJB2 Gene Mutations: A Long-Term Follow-Up.
Sakata A et al.
International Journal of Molecular Sciences, 2023
Dispersed DNA variants underlie hearing loss in South Florida's minority population.
Peart L et al.
Human Genomics, 2023
Comparative analysis of allele frequencies of 15 deafness gene variants between hearing-loss and normal populations in Henan, China.
Tian Y et al.
Heliyon, 2023
Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.
Riza AL et al.
Genes, 2022
Characterization of functionally deficient SIM2 variants found in patients with neurological phenotypes.
Button EL et al.
The Biochemical Journal, 2022
Population-scale analysis of common and rare genetic variation associated with hearing loss in adults.
Praveen K et al.
Communications Biology, 2022
Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.
Waks AG et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022
Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future.
Acharya A et al.
Human Genetics, 2022
A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia.
Solovyev AV et al.
Human Genetics, 2022
Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil.
Naslavsky MS et al.
Nature Communications, 2022
Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.
Quaio CRAC et al.
Frontiers in Genetics, 2022
Case Report: Early Neonatal EEG in Two Infants with Pallister Killian Syndrome (PKS).
Stephens CM et al.
Hrb Open Research, 2022
The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes.
Khayat M et al.
Clinical Genetics, 2021
Common germline-somatic variant interactions in advanced urothelial cancer.
Vosoughi A et al.
Nature Communications, 2020
GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort.
Buonfiglio P et al.
Genes, 2020
The Importance of Early Genetic Diagnostics of Hearing Loss in Children.
Božanić Urbančič N et al.
Medicina (kaunas, Lithuania), 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Shen J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Pan-cancer whole-genome analyses of metastatic solid tumours.
Priestley P et al.
Nature, 2019
Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry.
Chakchouk I et al.
European Journal of Human Genetics : Ejhg, 2019
Identification of Main Genetic Causes Responsible for Non-Syndromic Hearing Loss in a Peruvian Population.
Figueroa-Ildefonso E et al.
Genes, 2019