Associated Papers
Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.
Riahi Z et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
Rare Case with Pathogenic Variant in DHX16 Gene Causing Neuromuscular Disease and Oculomotor Anomalies.
Kalampokini S et al.
International Journal of Molecular Sciences, 2025
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.
Moore AR et al.
Journal of Medical Genetics, 2023
The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population.
Spedicati B et al.
Biomedicines, 2023
Distinct Genetically Determined Origins of Myd88/BCL2-Driven Aggressive Lymphoma Rationalize Targeted Therapeutic Intervention Strategies.
Flümann R et al.
Blood Cancer Discovery, 2023
Next-generation sequencing improves precision medicine in hearing loss.
Imizcoz T et al.
Frontiers in Genetics, 2023
Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s.
Kim BJ et al.
Journal of Medical Genetics, 2022
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.
Usami SI et al.
Human Genetics, 2022
Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches.
Buonfiglio PI et al.
Scientific Reports, 2022
Genetic Analysis of the LOXHD1 Gene in Chinese Patients With Non-Syndromic Hearing Loss.
Wang WQ et al.
Frontiers in Genetics, 2022
Mutations in LOXHD1 gene can cause auditory neuropathy spectrum disorder.
Morlet T et al.
Otolaryngology Case Reports, 2021
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Cochran M et al.
Molecular Genetics & Genomic Medicine, 2021
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.
García-García G et al.
Genes, 2020
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting.
Stenson PD et al.
Human Genetics, 2020
The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China.
Liu XW et al.
International Journal of Pediatric Otorhinolaryngology, 2020
Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families.
Bai X et al.
Biomed Research International, 2020
Corrigendum to "Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families".
Bai X et al.
Biomed Research International, 2020
A novel LOXHD1 variant in a Chinese couple with hearing loss.
Zhang C et al.
The Journal of International Medical Research, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort.
Maekawa K et al.
Genes, 2019
Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family.
Shen N et al.
Bmc Medical Genetics, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy.
Wesdorp M et al.
Clinical Genetics, 2018
Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations.
Morgan A et al.
Frontiers in Genetics, 2018
Clinical characteristics of a Japanese family with hearing loss accompanied by compound heterozygous mutations in LOXHD1.
Minami SB et al.
Auris, Nasus, Larynx, 2016
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.
Bademci G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
Sloan-Heggen CM et al.
Human Genetics, 2016
Mutations in LOXHD1 gene cause various types and severities of hearing loss.
Mori K et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.
Diaz-Horta O et al.
Plos One, 2012