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_S11_FC_Founder_variants_
Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders.
Chen F et al.
Npj Digital Medicine, 2024
39572625 (PubMed )
Supplement: 41746_2024_1331_MOESM2_ESM.xlsx › Supplementary_Data_6
GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
Gort L et al.
Gene, 2012
Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.
Mistri M et al.
Plos One, 2012
Evaluation of the risk for Tay-Sachs disease in individuals of French Canadian ancestry living in new England.
Martin DC et al.
Clinical Chemistry, 2007
Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.
Mardy S et al.
American Journal of Human Genetics, 1999
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