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
Exome Study of Single Nucleotide Variations in Patients with Syndromic and Non-Syndromic Autism Reveals Potential Candidate Genes for Diagnostics and Novel Single Nucleotide Variants.
Belenska-Todorova L et al.
Cells, 2025
The phenotypic spectrum of the Cornelia de Lange-like "Alazami-Yuan syndrome": A case report of the 7th diagnosed individual and review of the literature.
Pappas A et al.
Clinical Case Reports, 2025
Clinical utility of runs of homozygosity in the identification of genetic causes in individuals with rare diseases.
Sivakumaran TA et al.
Genetics in Medicine Open, 2025
O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome.
Mayfield JM et al.
The Journal of Biological Chemistry, 2024
The third family with TAF6-related phenotype: Alazami-Yuan syndrome.
Tuc E et al.
Clinical Genetics, 2020
Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.
Shaheen R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
Yuan B et al.
The Journal of Clinical Investigation, 2015
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
Alazami AM et al.
Cell Reports, 2015
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