Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM
Rare heterozygous GDF6 variants in patients with renal anomalies.
Martens H et al.
European Journal of Human Genetics : Ejhg, 2020
32737436 (PubMed )
Supplement: 41431_2020_678_MOESM1_ESM.pdf
Diagnostic exome sequencing in 266 Dutch patients with visual impairment.
Haer-Wigman L et al.
European Journal of Human Genetics : Ejhg, 2017
28224992 (PubMed )
Supplement: ejhg20179x6.xlsx › Supplemental_table_4
Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies.
Asai-Coakwell M et al.
Human Molecular Genetics, 2013
Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies.
Ye M et al.
Human Molecular Genetics, 2010
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