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European Journal of Medical Genetics|March 4, 2009
A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomaliesLucia Pedace, Marco Castori, Francesco Binni, et al.Acta Neuropathologica Communications|January 12, 2024
CNS tumor with CREBBP::BCORL1 Fusion and pathogenic mutations in BCOR and CREBBP: expanding the spectrum of BCOR-altered tumorsValeria Barresi, Antonello Cardoni, Evelina Miele, et al.American Journal of Medical Genetics. Part A|September 5, 2009
Fontaine-Farriaux syndrome: a recognizable craniosynostosis syndrome with nail, skeletal, abdominal, and central nervous system anomaliesMarco Castori, Evelina Silvestri, Lucia Pedace, et al.Journal of the Neurological Sciences|April 17, 2016
Late-onset spastic paraplegia type 10 (SPG10) family presenting with bulbar symptoms and fasciculations mimicking amyotrophic lateral sclerosisSeiji Kaji, Toshitaka Kawarai, Ryosuke Miyamoto, et al.European Journal of Medical Genetics|March 12, 2010
Jejunal atresia and anterior chamber anomalies: Further delineation of the Strømme syndromeMarco Castori, Luigi Laino, Vito Briganti, et al.Cancer Genetics and Cytogenetics|April 15, 2008
Identification of a novel duplication in the APC gene using multiple ligation probe amplification in a patient with familial adenomatous polyposisLucia Pedace, Silvia Majore, Francesca Megiorni, et al.Frontiers in Genetics|May 23, 2019
Role of DNA Methylation Profile in Diagnosing Astroblastoma: A Case Report and Literature ReviewGiuseppe Petruzzellis, Iside Alessi, Giovanna Stefania Colafati, et al.Journal of Cellular and Molecular Medicine|October 14, 2025
Unique Genetic and Epigenetic Alterations in Glioblastoma Long-Term Survivors: Insights From Two Clinical CasesElena Anghileri, Evelina Miele, Sara Patrizi, et al.Familial Cancer|December 27, 2011
Analysis of the miR-34a locus in 62 patients with familial cutaneous melanoma negative for CDKN2A/CDK4 screeningAngela M Cozzolino, Lucia Pedace, Marco Castori, et al.American Journal of Medical Genetics. Part A|August 28, 2014
Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one NR5A1 mutationLucia Pedace, Luigi Laino, Nicoletta Preziosi, et al.Pageof 5