Associated Papers
Arab founder variants: Contributions to clinical genomics and precision medicine.
AlAbdi L et al.
Med (new York, N.y.), 2025
The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar.
Alkhidir S et al.
Scientific Reports, 2024
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J et al.
Human Genomics, 2023
36597107 (PubMed )
Supplement: 40246_2022_449_MOESM3_ESM.xlsx › Sheet1
Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries.
Al Mutery A et al.
Human Genetics, 2022
Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.
Florentine MM et al.
Human Genetics, 2022
34515852 (PubMed )
Supplement: 439_2021_2338_MOESM2_ESM.xlsx › All_variants
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
36147510 (PubMed )
Supplement: DataSheet1.xlsx › Supplementary_Table_6
Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.
Subramanian DN et al.
Nature Communications, 2020
32242007 (PubMed )
Supplement: 41467_2020_15461_MOESM4_ESM.xlsx › Data_1
Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss.
D'Aguillo C et al.
International Journal of Audiology, 2019
ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.
DiStefano MT et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
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
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Consanguinity and hereditary hearing loss in Qatar.
Girotto G et al.
Human Heredity, 2014
Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss.
Girotto G et al.
Plos One, 2013
Common disease-associated gene variants in a Saudi Arabian population.
Aleissa M et al.
Annals of Saudi Medicine, 0
Select a paper to view details