Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
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
A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.
Seaby EG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38245859 (PubMed )
Supplement: NIHMS2042813-supplement-Supplemental_Results.xlsx › Middle_priority
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
38111038 (PubMed )
Supplement: 13073_2023_1271_MOESM1_ESM.xlsx › Table_S6
Extreme intratumour heterogeneity and driver evolution in mismatch repair deficient gastro-oesophageal cancer.
von Loga K et al.
Nature Communications, 2020
31949146 (PubMed )
Supplement: 41467_2019_13915_MOESM4_ESM.xlsx › Tumor_2
High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.
Lerat J et al.
Clinical Genetics, 2019
Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family.
Komara M et al.
American Journal of Medical Genetics. Part A, 2016
Select a paper to view details