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Clinical Genetics|January 28, 2026
UBTF Haploinsufficiency-Related Disorder: Report of a New Case Series and Definition of the Facial GestaltLuigi Chiriatti, Manuela Priolo, Chiara Leoni, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc|February 28, 2023
Pediatric BCOR-Altered Tumors From Soft Tissue/Kidney Display Specific DNA Methylation ProfilesClaudia M Salgado, Rita Alaggio, Andrea Ciolfi, et al.
Clinical Genetics|April 9, 2022
SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interactionManuela Priolo, Valentina Palermo, Francesca Aiello, et al.
International Journal of Molecular Sciences|June 2, 2021
Establishment and Characterization of a Cell Line (S-RMS1) Derived from an Infantile Spindle Cell Rhabdomyosarcoma with SRF-NCOA2 Fusion TranscriptMarta Colletti, Angela Galardi, Evelina Miele, et al.
NPJ Precision Oncology|April 18, 2024
Evaluating cell culture reliability in pediatric brain tumor primary cells through DNA methylation profilingLucia Pedace, Simone Pizzi, Luana Abballe, et al.
American Journal of Human Genetics|January 17, 2012
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndromeViviana Caputo, Luciano Cianetti, Marcello Niceta, et al.
Human Mutation|March 3, 2019
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlationsDiana Carli, Elisa Giorgio, Francesca Pantaleoni, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 29, 2016
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypesElisa Giorgio, Alessandro Brussino, Elisa Biamino, et al.
Cell Stem Cell|June 13, 2017
Integrin α7 Is a Functional Marker and Potential Therapeutic Target in GlioblastomaTobias L Haas, Maria Rita Sciuto, Lidia Brunetto, et al.
Journal of Clinical Immunology|October 31, 2021
Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the LiteratureAntonio Marzollo, Francesca Conti, Linda Rossini, et al.
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