Associated Papers
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
41374957 (PubMed )
Supplement: cancers-17-03756-s001.zip › Table_S4a.xlsx › Table_S4a
Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort.
Kong SW et al.
Npj Genomic Medicine, 2025
40021654 (PubMed )
Supplement: 41525_2025_480_MOESM1_ESM.pdf
Common and rare variants in patients with early onset drusen maculopathy.
de Breuk A et al.
Clinical Genetics, 2022
Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals.
D'Alterio G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
35511137 (PubMed )
Supplement: mmc1.xls › supplementary_table4
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.
Machnicki MM et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
33170376 (PubMed )
Supplement: 10072_2020_4876_MOESM3_ESM.xlsx › variants
Targeted exome sequencing in anti-factor H antibody negative HUS reveals multiple variations.
Thergaonkar RW et al.
Clinical and Experimental Nephrology, 2018
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
Omoyinmi E et al.
Plos One, 2017
Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.
Ostrowski J et al.
Scientific Reports, 2016
28008999 (PubMed )
Supplement: srep39831-s2.xls › Table_S7
Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.
van Schouwenburg PA et al.
Clinical Immunology (orlando, Fla.), 2015
26122175 (PubMed )
Supplement: NIHMS64345-supplement-Supplementary_tables.xlsx › Table_S5
Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome.
Bu F et al.
Journal of the American Society of Nephrology : Jasn, 2014
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM et al.
Nature Genetics, 2013
24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B
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