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Epileptic Disorders : International Epilepsy Journal with Videotape|March 27, 2014
Novel neurofibromatosis type 2 mutation presenting with status epilepticusJacopo C DiFrancesco, Roberta Sestini, Federica Cossu, et al.
Familial Cancer|November 19, 2020
Early-onset malignant phyllodes breast tumor in a patient with germline pathogenic variants in NF1 and BRCA1 genesFrancesca Gensini, Roberta Sestini, Alessandro De Luca, et al.
American Journal of Clinical Pathology|July 17, 2008
High-resolution melting analysis for rapid detection of KRAS, BRAF, and PIK3CA gene mutations in colorectal cancerLisa Simi, Nicola Pratesi, Marina Vignoli, et al.
JIMD Reports|March 11, 2016
A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of AlkaptonuriaBerardino Porfirio, Roberta Sestini, Greta Gorelli, et al.
The Journal of Molecular Diagnostics : JMD|October 25, 2017
Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation DetectionGabriele Lorenzo Capone, Anna Laura Putignano, Sharon Trujillo Saavedra, et al.
Dermatology Online Journal|September 17, 2020
A novel CDKN2A in-frame deletion associated with pancreatic cancer-melanoma syndromeIrene Bottillo, Michele Valiante, Lucia Menale, et al.
Inflammatory Bowel Diseases|January 1, 2005
Susceptibility to refractory ulcerative colitis is associated with polymorphism in the hMLH1 mismatch repair geneSiro Bagnoli, Anna Laura Putignano, German Melean, et al.
Human Pathology|May 24, 2015
Broadening the spectrum of SMARCB1-associated malignant tumors: a case of uterine leiomyosarcoma in a patient with schwannomatosisIrene Paganini, Roberta Sestini, Matilde Cacciatore, et al.
Epigenetics|December 2, 2014
MLH1 constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteriaFrancesca Crucianelli, Rossella Tricarico, Daniela Turchetti, et al.
Plos One|June 13, 2015
A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 GeneElisa Contini, Irene Paganini, Roberta Sestini, et al.
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