Associated Papers
Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.
Parra-Perez AM et al.
Medcomm, 2025
40989574 (PubMed )
Supplement: MCO2-6-e70394-s001.xlsx › TableS7
Next-generation sequencing and analysis of consecutive patients referred for connective tissue disorders.
Steinle J et al.
American Journal of Medical Genetics. Part A, 2022
Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional study.
Veatch OJ et al.
Bmc Medical Genomics, 2022
35918752 (PubMed )
Supplement: 12920_2022_1321_MOESM3_ESM.xlsx › Supplemental_Table_3
The Identification by Exome Sequencing of Candidate Genes in BRCA-Negative Tunisian Patients at a High Risk of Hereditary Breast/Ovarian Cancer.
BenAyed-Guerfali D et al.
Genes, 2022
35893033 (PubMed )
Supplement: genes-13-01296-s001.zip › Table_S2_supplementary_data.xlsx › Feuil2
Genetic Determinism of Primary Early-Onset Osteoarthritis.
Aury-Landas J et al.
Trends in Molecular Medicine, 2016
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
Chakchouk I et al.
Molecular Genetics and Genomics : Mgg, 2015
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.
Acke FR et al.
Molecular Genetics and Metabolism, 2014
Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.
Chang H et al.
Plos One, 2011
21701589 (PubMed )
Supplement: pone.0021097.s002.xls › nci-h661_f40r3
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