Associated Papers
Using the ancestral recombination graph to study the history of rare variants in founder populations.
Mejia-Garcia A et al.
American Journal of Human Genetics, 2025
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_S11_FC_Founder_variants_
A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder.
Galarreta CI et al.
American Journal of Medical Genetics. Part A, 2023
First glance at the molecular etiology of hearing loss in French-Canadian families from Saguenay-Lac-Saint-Jean's founder population.
Cruz Marino T et al.
Human Genetics, 2022
Genetic burden linked to founder effects in Saguenay-Lac-Saint-Jean illustrates the importance of genetic screening test availability.
Bchetnia M et al.
Journal of Medical Genetics, 2021
A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.
Zaki MS et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
PEX6 Mutations in Peroxisomal Biogenesis Disorders: An Usher Syndrome Mimic.
Benson MD et al.
Ophthalmology Science, 2021
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).
Tucker EJ et al.
Human Genetics, 2020
Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy.
Tran C et al.
Pediatric Neurology, 2014
A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population.
Levesque S et al.
Bmc Medical Genetics, 2012
Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.
Ebberink MS et al.
Human Mutation, 2010
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