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
Novel CPLANE1 c.8948dupT (p.P2984Tfs*7) variant in a child patient with Joubert syndrome.
Wang H et al.
Open Life Sciences, 2023
Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease.
Zhu N et al.
Genome Medicine, 2018
30029678 (PubMed )
Supplement: 13073_2018_566_MOESM2_ESM.xlsx › Sheet1
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
Unraveling the genetics of Joubert and Meckel-Gruber syndromes.
Szymanska K et al.
Journal of Pediatric Genetics, 2014
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