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
Rare dentin defects: Understanding the pathophysiological mechanisms of COLXVA1 mutations.
Bugueno IM et al.
Genes & Diseases, 2024
38721411 (PubMed )
Supplement: mmc2.pdf
Common and rare variants in patients with early onset drusen maculopathy.
de Breuk A et al.
Clinical Genetics, 2022
36053979 (PubMed )
Supplement: CGE-102-414-s009.xlsx › Blad1
Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia.
Maksemous N et al.
Biomedicines, 2020
32466254 (PubMed )
Supplement: biomedicines-08-00134-s001.zip › biomedicines-802193-supplementary-fianl › Supplementary_Table_S3.pdf
Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.
Van Marcke C et al.
Breast Cancer Research : Bcr, 2020
32295625 (PubMed )
Supplement: 13058_2020_1273_MOESM1_ESM.xlsx › Table_S2
Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs.
Li N et al.
Breast Cancer Research : Bcr, 2018
29316957 (PubMed )
Supplement: 13058_2017_929_MOESM1_ESM.xlsx › Table_S3
Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum.
Ekici AB et al.
Molecular Syndromology, 2010
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