Associated Papers
Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy.
Suzuki T et al.
Journal of the American Heart Association, 2025
40932142 (PubMed )
Supplement: JAH3-14-e041298-s001.zip › jah311383-sup-0001-TableS1.xlsx › Table_S1_CMP_variant_list
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq
A Panel-Agnostic Strategy 'HiPPo' Improves Diagnostic Efficiency in the UK Genomic Medicine Service.
Seaby EG et al.
Healthcare (basel, Switzerland), 2023
38132069 (PubMed )
Supplement: healthcare-11-03179-s001.zip › healthcare-2730148-supplementary.xlsx › Table_S2
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Dembic M et al.
Molecular Genetics and Genomics : Mgg, 2023
36454308 (PubMed )
Supplement: 438_2022_1980_MOESM8_ESM.xlsx › Deleterious_variants
A panel-agnostic strategy 'HiPPo' improves diagnostic efficiency in the UK Genome Medicine Service.
Seaby EG et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
36778464 (PubMed )
Supplement: media-1.xlsx › Table_2
Select a paper to view details