Associated Papers
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
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Host genetic basis of COVID-19: from methodologies to genes.
Zguro K et al.
European Journal of Human Genetics : Ejhg, 2022
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.
Fallerini C et al.
Human Genetics, 2022
Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.
Block T et al.
Frontiers in Oncology, 2022
SELP Asp603Asn and severe thrombosis in COVID-19 males.
Fallerini C et al.
Journal of Hematology & Oncology, 2021
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
Genetic Factors in Antiphospholipid Syndrome: Preliminary Experience with Whole Exome Sequencing.
Barinotti A et al.
International Journal of Molecular Sciences, 2020
Role of platelet gene polymorphisms in ischemic pediatric stroke subtypes: a case-control study.
Čeri A et al.
Croatian Medical Journal, 2020
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Khan MJ et al.
Scientific Reports, 2018
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
Pharmacogenetic Variation in Over 100 Genes in Patients Receiving Acenocumarol.
Gonzalez-Covarrubias V et al.
Frontiers in Pharmacology, 2017
Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.
Maguire SL et al.
The Journal of Pathology, 2016
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
Samorodnitsky E et al.
Human Mutation, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
An evolutionary history of the selectin gene cluster in humans.
Fumagalli M et al.
Heredity, 2012
Evaluation of variants in the selectin genes in age-related macular degeneration.
Mullins RF et al.
Bmc Medical Genetics, 2011