Associated Papers
Stratified analyses refine association between TLR7 rare variants and severe COVID-19.
Boos J et al.
Hgg Advances, 2024
38944683 (PubMed )
Supplement: mmc4.xlsx › single_variants_p_lt_0.05
Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.
Patiño-García A et al.
Ebiomedicine, 2024
38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2
Targeted gene sequencing of FYCO1 identified a novel mutation in a Pakistani family for autosomal recessive congenital cataract.
Saleem RS et al.
Molecular Genetics & Genomic Medicine, 2022
Investigating underlying human immunity genes, implicated diseases and their relationship to COVID-19.
Ahmed Z et al.
Personalized Medicine, 2022
A year of COVID-19 GWAS results from the GRASP portal reveals potential genetic risk factors.
Thibord F et al.
Hgg Advances, 2022
35224516 (PubMed )
Supplement: mmc2.xlsx › TS6
Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families.
Azzarà A et al.
Plos One, 2022
Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19.
Monticelli M et al.
European Journal of Medical Genetics, 2021
33872774 (PubMed )
Supplement: mmc2.xlsx › Foglio1
Genetic variability in COVID-19-related genes in the Brazilian population.
Secolin R et al.
Human Genome Variation, 2021
33824725 (PubMed )
Supplement: 41439_2021_146_MOESM3_ESM.xlsx › In_silico_prediction_results
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L et al.
Bmc Medical Genetics, 2020
32867697 (PubMed )
Supplement: 12881_2020_1110_MOESM2_ESM.xls › NGS277_S29011_Complete
Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing.
Li S et al.
Bmc Medical Genetics, 2019
31842807 (PubMed )
Supplement: 12881_2019_933_MOESM2_ESM.xlsx › ___1
Somatic signature of brain-specific single nucleotide variations in sporadic Alzheimer's disease.
Parcerisas A et al.
Journal of Alzheimer's Disease : Jad, 2014
25024348 (PubMed )
Supplement: sj-xls-6-alz-10.3233_jad-140891.xls › P3C
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