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
Diagnostic Yield of Trio Whole-Genome Sequencing in Children with Undiagnosed Developmental Delay or Congenital Anomaly: A Prospective Cohort Study.
Kim J et al.
Diagnostics (basel, Switzerland), 2024
Novel CPLANE1 c.8948dupT (p.P2984Tfs*7) variant in a child patient with Joubert syndrome.
Wang H et al.
Open Life Sciences, 2023
De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.
Sevim Bayrak C et al.
Genome Medicine, 2020
31941532 (PubMed )
Supplement: 13073_2019_709_MOESM1_ESM.xlsx › S3
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
Srour M et al.
American Journal of Human Genetics, 2015
Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies.
Damerla RR et al.
Human Molecular 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
C5orf42 is the major gene responsible for OFD syndrome type VI.
Lopez E et al.
Human Genetics, 2014
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