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Cancers|September 10, 2020
RASAL1 and ROS1 Gene Variants in Hereditary Breast CancerFederica Isidori, Isotta Bozzarelli, Simona Ferrari, et al.
Genes|March 28, 2026
Distribution of Sequencing Coverage Gaps in Exomes and Genomes: Potential Implications for Diagnostic Accuracy in Neurodevelopmental Disorder GenesEmanuela Iovino, Claudia De Masi, Anna Ballestrazzi, et al.
Cytogenetic and Genome Research|April 2, 2019
HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex PhenotypeGiulia Severi, Elena Bonora, Annamaria Perri, et al.
British Journal of Haematology|April 10, 2024
ACTN1-related thrombocytopenia: Homozygosity for an ACTN1 variant results in a more severe phenotypeMelania Eva Zanchetta, Serena Barozzi, Federica Isidori, et al.
American Journal of Medical Genetics. Part A|August 8, 2026
Compound Heterozygous Variants in the PAICS Gene Integrate the Previously Described Divergent PhenotypesLuigi Monti, Federica Isidori, Emidio Capriotti, et al.
BMC Cancer|September 14, 2018
Genomic profiles of primary and metastatic esophageal adenocarcinoma identified via digital sorting of pure cell populations: results from a case reportFederica Isidori, Deborah Malvi, Silvia Fittipaldi, et al.
Interactive Cardiovascular and Thoracic Surgery|October 20, 2017
Search for genetic factors in bicuspid aortic valve disease: ACTA2 mutations do not play a major roleGiada Tortora, Anita Wischmeijer, Paolo Berretta, et al.
Biomedicines|January 28, 2026
Idiopathic Pulmonary Fibrosis: Analysis of Predisposing Variants in Patients with Familial FormsIlaria Stanghellini, Elena Bonora, Marco Sebastiani, et al.
British Journal of Haematology|October 8, 2024
Two novel families with RUNX1 variants indicate glycine 168 as a new mutational hotspot: Implications for FPD/AML diagnosisLaureano J Kamiya, Serena Barozzi, Federica Isidori, et al.
Clinical and Translational Gastroenterology|October 23, 2020
Targeted Sequencing of Sorted Esophageal Adenocarcinoma Cells Unveils Known and Novel Mutations in the Separated SubpopulationsFederica Isidori, Isotta Bozzarelli, Luca Mastracci, et al.
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