Associated Papers
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
41188636 (PubMed )
Supplement: 10875_2025_1951_MOESM1_ESM.xlsx › Table_S5_final
Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways.
Tuncay IO et al.
Npj Genomic Medicine, 2025
41073408 (PubMed )
Supplement: 41525_2025_520_MOESM2_ESM.xlsx › Supplementary_Data_3
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
A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentation.
Gonzalez Garcia A et al.
Cold Spring Harbor Molecular Case Studies, 2020
Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer.
Esteban-Jurado C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.
Payne F et al.
The Journal of Clinical Investigation, 2014
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