The paper validates the NovaSeq6000 RUO platform with automated library preparation for clinical-grade whole-exome sequencing, showing equivalence to the CE-IVD certified system.

Computational and Structural Biotechnology Journal · Jan 1, 2025Peer-reviewedGenomics

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

Elisabeth Bosch, Bernt Popp, Esther Güse, Cindy D. Skinner, Pleuntje J. van der Sluijs, Isabelle Maystadt, Anna Maria Pinto, Alessandra Renieri, Lucia Pia Bruno, Stefania Granata, Carlo Marcelis, Özlem Baysal, Dewi Hartwich, Laura Holthöfer, Bertrand Isidor, , Georgia Vasileiou

The paper presents clinical and molecular data on 65 individuals with SMARCC2-associated neurodevelopmental disorders, distinguishing phenotypes based on variant types and identifying potential pathomechanisms.

medRxiv · Mar 30, 2023 · PreprintGenetic & Genomic Medicine

Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in males.

Margherita Baldassarri, Nicola Picchiotti, Francesca Fava, Chiara Fallerini, Elisa Benetti, Sergio Daga, Floriana Valentino, Gabriella Doddato, Simone Furini, Annarita Giliberti, Rossella Tita, Sara Amitrano, Mirella Bruttini, Susanna Croci, Ilaria Meloni, , Francesca Andretta

The paper identifies shorter androgen receptor polyQ alleles as protective against severe COVID-19 in males using machine learning on whole-exome sequencing data from the GEN-COVID cohort.

EBioMedicine · Feb 26, 2021Peer-reviewedGenetic & Genomic Medicine

Employing a Systematic Approach to Biobanking and Analyzing Genetic and Clinical Data for Advancing COVID-19 Research

Sergio Daga, Chiara Fallerini, Margherita Baldassarri, Francesca Fava, Floriana Valentino, Gabriella Doddato, Elisa Benetti, Simone Furini, Annarita Giliberti, Rossella Tita, Sara Amitrano, Mirella Bruttini, Ilaria Meloni, Anna Maria Pinto, Francesco Raimondi, , Elisa Frullanti

The paper describes a biobanking initiative collecting genetic and clinical data from over 1,000 SARS-CoV-2-positive individuals to study multi-organ involvement and genetic factors in COVID-19 severity.

European Journal of Human Genetics · Jan 17, 2021Peer-reviewedGenetic & Genomic Medicine

Post-Mendelian genetic model in COVID-19

Nicola Picchiotti, Elisa Benetti, Chiara Fallerini, Sergio Daga, Margherita Baldassarri, Francesca Fava, Kristina Zguro, Floriana Valentino, Gabriella Doddato, Annarita Giliberti, Rossella Tita, Sara Amitrano, Mirella Bruttini, Laura Di Sarno, Diana A. Alaverdian, , Simone Furini

The paper proposes a post-Mendelian genetic model integrating common and rare variants to predict severe vs. mild COVID-19 outcomes in an Italian cohort.

Cardiology and Cardiovascular Medicine · Jan 1, 2021Peer-reviewedGenetic & Genomic Medicine

U1 snRNP regulates cancer cell migration and invasion

Jung‐Min Oh, Christopher C. Venters, Chao Di, Anna Maria Pinto, Lili Wan, Ihab Younis, Zhiqiang Cai, Chie Arai, Byung Ran So, Jingqi Duan, Gideon Dreyfuss

Moderate U1 snRNP inhibition raises cancer cell migration and invasion by up to 500% and shortens 3'UTRs in many genes, while U1 overexpression has the opposite effects.

Nature Communications · Jan 7, 2020Peer-reviewedMolecular Biology✦ In-depth digest