Bartolomeo Augello
0000-0001-7475-6976
Publication & Citation Trends
Publications
0 total
Comprehensive Molecular Screening by Next Generation Sequencing of Gastrointestinal Stromal Tumors (GISTs): In Silico Analysis and Classification of Rare KIT Exon 11 Mutations
Cited by 0
Semantic Scholar
Otofaciocervical Syndrome and Its Overlap with Branchiootorenal Spectrum: An Integrated Literature Analysis of EYA1-Related Disorders, Including a Novel Case with an 8q13.2q13.3 Deletion
Cited by 0
Semantic Scholar
Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia OA
Cited by 4
Semantic Scholar
Circadian Genes Expression Patterns in Disorders Due to Enzyme Deficiencies in the Heme Biosynthetic Pathway OA
Cited by 3
Semantic Scholar
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes OA
Cited by 24
Semantic Scholar
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder OA
Cited by 16
Semantic Scholar
Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Skin Syndrome via TGF-β Signaling Overactivation OA
Cited by 15
Semantic Scholar
Research Topics
Genomic variations and chromosomal abnormalities
(9)
Genomics and Rare Diseases
(9)
Williams Syndrome Research
(7)
Genetics and Neurodevelopmental Disorders
(5)
Epigenetics and DNA Methylation
(4)
Affiliations
Casa Sollievo della Sofferenza
University of Chieti-Pescara
Nuovo Ospedale San Giovanni di Dio
Genomics (United Kingdom)
Istituti di Ricovero e Cura a Carattere Scientifico