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
Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations.
Blauen A et al.
Journal of Child Neurology, 2021
With expanded carrier screening, founder populations run the risk of being overlooked.
Mathijssen IB et al.
Journal of Community Genetics, 2017
A novel nonsense GPSM2 mutation in a Yemeni family underlying Chudley-McCullough syndrome.
Hamzeh AR et al.
European Journal of Medical Genetics, 2016
GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North America.
Almomani R et al.
American Journal of Medical Genetics. Part A, 2013
A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing.
Schrauwen I et al.
American Journal of Medical Genetics. Part A, 2013
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