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
Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro.
De Mori R et al.
Cell and Tissue Research, 2024
Novel CPLANE1 c.8948dupT (p.P2984Tfs*7) variant in a child patient with Joubert syndrome.
Wang H et al.
Open Life Sciences, 2023
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
Srour M et al.
American Journal of Human Genetics, 2015
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Romani M et al.
Human Genetics, 2015
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