Area of research
Genetics · Infectious Diseases
Research interest
Research interests include Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, and SARS-CoV-2 and COVID-19 Research.
Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study
Longitudinal Whole-Exome Sequencing of Cell-Free DNA Reveals Molecular Evolution and Heterogeneous Clinical Outcomes in PD-L1 Stratified Advanced NSCLC Adenocarcinoma Patients Treated with Atezolizumab.
Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study.
Compound heterozygous mutations in the SYNE1 gene causing atypical juvenile motor neuron disease.
From asbestos exposure to carcinogenesis: Transcriptomic signatures in malignant pleural mesothelioma.
The Genetic Analysis and Clinical Therapy in Lung Cancer: Current Advances and Future Directions.
The Evidence Base for Circulating Tumor DNA-Methylation in Non-Small Cell Lung Cancer: A Systematic Review and Meta-Analysis.
ARID1B-related disorder in 87 adults: Natural history and self-sustainability
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death.
A novel framework for functional annotation of variants of uncertain significance in ID/ASD risk gene CC2D1A.
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.
The Personalized Inherited Signature Predisposing to Non-Small-Cell Lung Cancer in Non-Smokers.
Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
Genetic modifiers and ascertainment drive variable expressivity of complex disorders
MET is a new confirmed gene responsible for familial distal arthrogryposis.
Correction: The role of the genetic counsellor in the multidisciplinary team: the perception of geneticists in Europe.
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder.
Modeling PCDH19 clustering epilepsy by Neurogenin 2 induction of patient-derived induced pluripotent stem cells.
An Example of Neuro-Glial Commitment and Differentiation of Muse Stem Cells Obtained from Patients with <i>IQSEC2</i>-Related Neural Disorder: A Possible New Cell-Based Disease Model.
Anxiety, concerns and COVID-19: Cross-country perspectives from families and individuals with neurodevelopmental conditions.
Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder
Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.
Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males.
Whole-genome sequencing reveals host factors underlying critical COVID-19.
A first update on mapping the human genetic architecture of COVID-19.
Guidelines for Genetic Testing and Management of Alport Syndrome.
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients.
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.
Pathogen-sugar interactions revealed by universal saturation transfer analysis.