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
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations.
Jayadev R et al.
Science Advances, 2022
35584218 (PubMed )
Supplement: sciadv.abn2265_sm.pdf
Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia.
Barad M et al.
Ebiomedicine, 2020
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes.
Watkins WS et al.
Nature Communications, 2019
31624253 (PubMed )
Supplement: 41467_2019_12582_MOESM3_ESM.xlsx › SuppData2.Damaged_genes
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