Mariarosaria Calvello

Large scale multifactorial likelihood quantitative analysis of <i>BRCA1</i> and <i>BRCA2</i> variants: An ENIGMA resource to support clinical variant classification

Michael T. Parsons, Emma Tudini, Hongyan Li et al. · Human Mutation · 2019 · 148 citations · Full text

Genetics, Genetic Epidemiology, Pathology +25

Association of Genomic Domains in <i>BRCA1</i> and <i>BRCA2</i> with Prostate Cancer Risk and Aggressiveness

Vivek Patel, Evan L. Busch, Tara M. Friebel et al. · Cancer Research · 2019 · 50 citations · Full text

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

Haoyu Zhang, Thomas U. Ahearn, Julie Lecarpentier et al. · 2019 · 45 citations · Full text

Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study

Salvatore Rossi, Giacomo Della Marca, Martina Ricci et al. · Journal of the Neurological Sciences · 2019 · 40 citations · Full text

Rare Diseases, Respiratory Impairment, Predictor Factors +2

Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome

Mariarosaria Calvello, Silvia Tabano, Patrizia Colapietro et al. · Epigenetics · 2013 · 38 citations · Full text

Epigenetic Change, Genetics, Dna Methylation +16