Carlotta Ranieri

ScholarGPS® ID: 67461606408469

Affiliation

University of Bari, BariTarantoBrindisi, Italy

Affiliation History

Field

Life Sciences

Discipline

Biomedical Sciences

Top Specialties

Birth Defect | Medical Genetics

Metrics Summary

Publication Count

Predicted Citations

166

Predicted h-index

Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

Publications
Books
Patents
NIH/NSF

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Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros) (journal article) Reynolds, Giuseppe \| Cardaropoli, Simona \| Carli, Diana \| Luca, Maria \| Gazzin, Andrea \| Coppo, Paola \| La Selva, Roberta \| Piglionica, Marilidia \| Bagnulo, Rosanna \| Turchiano, Antonella \| ... \| Mussa, Alessandro European Journal of Human Genetics, volume 31, issue 11, pages 1333-1336 (2023). 10.1038/s41431-023-01414-9 Cited by (7) \| Cite \| Source
Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies (journal article) Mussa, Alessandro \| Turchiano, Antonella \| Cardaropoli, Simona \| Coppo, Paola \| Pantaleo, Antonino \| Bagnulo, Rosanna \| Ranieri, Carlotta \| Iacoviello, Matteo \| Garganese, Antonella \| Stella, Alessandro \| ... \| Resta, Nicoletta Genes, Chromosomes and Cancer, volume 61, issue 11, pages 689-695 (2022). 10.1002/gcc.23086 Cited by (4) \| Cite \| Source
A novel multidisciplinary approach in an LMNA-mutated patient: the importance of considering the overall clinical picture for the early diagnosis (journal article) Santobuono, Vincenzo Ezio \| Guaricci, Andrea Igoren \| Carulli, Eugenio \| Bozza, Nicola \| Pepe, Martino \| Ranauro, Alfredo \| Ranieri, Carlotta \| Carella, Maria Cristina \| Loizzi, Francesco \| Resta, Nicoletta \| ... \| Forleo, Cinzia Vascular Pharmacology, volume 146 (2022). 10.1016/j.vph.2022.107077 Cite \| Source
Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers (journal article) Turchiano, Antonella \| Loconte, Daria Carmela \| De Nola, Rosalba \| Arezzo, Francesca \| Chiarello, Giulia \| Pantaleo, Antonino \| Iacoviello, Matteo \| Bagnulo, Rosanna \| De Luisi, Annunziata \| Perrelli, Sonia \| ... \| Resta, Nicoletta Cancers, volume 14, issue 2, pages 365- (2022). 10.3390/cancers14020365 Cited by (5) \| Cite \| Source
Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome (journal article) Forde, Karina \| Resta, Nicoletta \| Ranieri, Carlotta \| Rea, David \| Kubassova, Olga \| Hinton, Mark \| Andrews, Katrina A. \| Semple, Robert \| Irvine, Alan D. \| Dvorakova, Veronika Orphanet Journal of Rare Diseases, volume 16, issue 1 (2021). 10.1186/s13023-021-01745-0 Cited by (43) \| Cite \| Source
Correspondence on “Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities,” by Carmignac et al. (journal article) Resta, Nicoletta \| Calabrese, Olga \| Grossi, Valentina \| Lugli, Licia \| Simone, Cristiano \| Ranieri, Carlotta \| Piglionica, Marilidia \| Lepore Signorile, Martina \| Rossi, Katia \| Carli, Diana \| Mussa, Alessandro Genetics in Medicine, volume 23, issue 11, pages 2223-2224 (2021). 10.1038/s41436-021-01256-0 Cited by (1) \| Cite \| Source
Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA ‐related overgrowth spectrum (journal article) Carli, Diana \| Kalantari, Silvia \| Manicone, Rosaria \| Coppo, Paola \| Francia di Celle, Paola \| La Selva, Roberta \| Santoro, Federica \| Ranieri, Carlotta \| Cardaropoli, Simona \| Fagioli, Franca \| ... \| Mussa, Alessandro Clinical Genetics, volume 100, issue 5, pages 624-627 (2021). 10.1111/cge.14047 Cited by (13) \| Cite \| Source
Importance of clinical suspicion and multidisciplinary management for early diagnosis of a cardiac laminopathy patient: A case report (journal article) Santobuono, Vincenzo Ezio \| Guaricci, Andrea Igoren \| Carulli, Eugenio \| Bozza, Nicola \| Pepe, Martino \| Ranauro, Alfredo \| Ranieri, Carlotta \| Carella, Maria Cristina \| Loizzi, Francesco \| Resta, Nicoletta \| ... \| Forleo, Cinzia World Journal of Clinical Cases, volume 9, issue 25, pages 7472-7477 (2021). 10.12998/wjcc.v9.i25.7472 Cited by (1) \| Cite \| Source
A new case of Smith‐Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth (journal article) Carli, Diana \| Ferrero, Giovanni Battista \| Fusillo, Anna \| Coppo, Paola \| La Selva, Roberta \| Zinali, Federica \| Cardaropoli, Simona \| Ranieri, Carlotta \| Iacoviello, Matteo \| Resta, Nicoletta \| Mussa, Alessandro Clinical Genetics, volume 99, issue 5, pages 719-723 (2021). 10.1111/cge.13931 Cited by (7) \| Cite \| Source
Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects (journal article) Gentile, Mattia \| Ranieri, Carlotta \| Loconte, Daria C. \| Ponzi, Emanuela \| Ficarella, Romina \| Volpe, Paolo \| Scalzo, Gabriele \| Lepore Signorile, Martina \| Grossi, Valentina \| Cordella, Angela \| ... \| Resta, Nicoletta Clinical Genetics, volume 99, issue 3, pages 425-429 (2021). 10.1111/cge.13890 Cited by (1) \| Cite \| Source
The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein (journal article) Laforgia, Nicola \| De Cosmo, Lucrezia \| Palumbo, Orazio \| Ranieri, Carlotta \| Sesta, Michela \| Capodiferro, Donatella \| Pantaleo, Antonino \| Iapicca, Pierluigi \| Lastella, Patrizia \| Capozza, Manuela \| ... \| Resta, Nicoletta Genes, volume 11, issue 12, pages 1519- (2020). 10.3390/genes11121519 Cited by (8) \| Cite \| Source
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay (journal article) Zollino, Marcella \| Ranieri, Carlotta \| Grossi, Valentina \| Leoni, Chiara \| Lattante, Serena \| Mazzà, Daniela \| Simone, Cristiano \| Resta, Nicoletta Molecular Genetics & Genomic Medicine, volume 7, issue 8 (2019). 10.1002/mgg3.845 Cited by (12) \| Cite \| Source
First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma (journal article) Leoni, Chiara \| Gullo, Giuseppe \| Resta, Nicoletta \| Fagotti, Anna \| Onesimo, Roberta \| Schwartz, Brian \| Kazakin, Julia \| Abbadessa, Giovanni \| Crown, John \| Collins, Conor D. \| ... \| Zampino, Giuseppe American Journal of Medical Genetics Part A, volume 179, issue 7, pages 1319-1324 (2019). 10.1002/ajmg.a.61160 Cited by (34) \| Cite \| Source
Gait disturbance and lower limb pain in a patient with PIK3CA -related disorder (journal article) Cappuccio, Gerarda \| Alagia, Marianna \| D'Anna, Mariangela \| Ranieri, Carlotta \| Di Tommaso, Silvia \| Bruno, Claudio \| Fiorillo, Chiara \| Pedemonte, Marina \| Loconte, Daria \| Della Casa, Roberto \| ... \| Brunetti-Pierri, Nicola European Journal of Medical Genetics, volume 60, issue 12, pages 655-657 (2017). 10.1016/j.ejmg.2017.08.018 Cited by (2) \| Cite \| Source