Nicoletta Resta

ScholarGPS® ID: 35878049009479

Affiliation

University of Bari, BariTarantoBrindisi, Italy

Affiliation History

Field

Life Sciences

Discipline

Biomedical Sciences

Top Specialties

Metrics Summary

Publication Count

113

Predicted Citations

2,704

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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De Novo Pathogenic Variant in FBRSL1, Non OMIM Gene Paralogue AUTS2, Causes a Novel Recognizable Syndromic Manifestation with Intellectual Disability; An Additional Patient and Review of the Literature (journal article) Bukvic, Nenad \| De Rinaldis, Marta \| Chetta, Massimiliano \| Trabacca, Antonio \| Bassi, Maria Teresa \| Marsano, René Massimiliano \| Holoubkova, Lenka \| Rivieccio, Maria \| Oro, Maria \| Resta, Nicoletta \| ... \| Viggiano, Luigi Genes, volume 15, issue 7, pages 826- (2024). 10.3390/genes15070826 Cite \| Source
First report of whole CFTR gene duplication in a healthy newborn carrying R74W and V855I variants on the same allele (journal article) Diana, Anna \| Polizzi, Angela Maria \| De Luisi, Annunziata \| Pantaleo, Maria Giuseppina \| Leonetti, Giuseppina \| Simonetti, Simonetta \| Bukvic, Nenad \| Iacoviello, Matteo \| Bucci, Roberta \| Gentile, Mattia \| Resta, Nicoletta Journal of Cystic Fibrosis (2024). 10.1016/j.jcf.2024.01.013 Cite \| Source
The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth (journal article) Luca, Maria \| Piglionica, Marilidia \| Bagnulo, Rosanna \| Cardaropoli, Simona \| Carli, Diana \| Turchiano, Antonella \| Coppo, Paola \| Pantaleo, Antonino \| Iacoviello, Matteo \| Ferrero, Giovanni Battista \| ... \| Resta, Nicoletta Genes, Chromosomes and Cancer, volume 62, issue 12, pages 703-709 (2023). 10.1002/gcc.23188 Cited by (3) \| Cite \| Source
Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association (journal article) Gazzin, Andrea \| Leoni, Chiara \| Viscogliosi, Germana \| Borgini, Federica \| Perri, Lucrezia \| Iacoviello, Matteo \| Piglionica, Marilidia \| De Pellegrin, Maurizio \| Ferrero, Giovanni Battista \| Bartuli, Andrea \| ... \| Mussa, Alessandro Genes, volume 14, issue 12, pages 2134- (2023). 10.3390/genes14122134 Cite \| Source
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
Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A (journal article) Mastrapasqua, Mariangela \| Rossi, Roberta \| De Cosmo, Lucrezia \| Resta, Annalisa \| Errede, Mariella \| Bizzoca, Antonella \| Zampatti, Stefania \| Resta, Nicoletta \| Giardina, Emiliano \| Ruggieri, Maddalena \| ... \| Girolamo, Francesco European Journal of Translational Myology, volume 33, issue 3 (2023). 10.4081/ejtm.2023.11501 Cited by (3) \| Cite \| Source
Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes (journal article) Forte, Giovanna \| Cariola, Filomena \| Buonadonna, Antonia Lucia \| Guglielmi, Anna Filomena \| Manghisi, Andrea \| De Marco, Katia \| Grossi, Valentina \| Fasano, Candida \| Lepore Signorile, Martina \| Sanese, Paola \| ... \| Simone, Cristiano Genes & Diseases, volume 10, issue 4, pages 1187-1189 (2023). 10.1016/j.gendis.2022.11.017 Cite \| Source
C70 WEARABLE CARDIOVERTER DEFIBRILLATOR IN LONG QT SYNDROME DURING PREGNANCY: TIME TO USE THE SHIELD (journal article) Forleo, C \| Carella, M \| Basile, P \| Memeo, R \| Dadamo, M \| Resta, N \| Vimercati, A \| Guaricci, A \| Ciccone, M European Heart Journal Supplements, volume 25, issue Supplement_D, pages D29-D30 (2023). 10.1093/eurheartjsupp/suad111.069 Cite \| Source
Sigma-2 Receptor Ligand Binding Modulates Association between TSPO and TMEM97 (journal article) Thejer, Bashar M. \| Infantino, Vittoria \| Santarsiero, Anna \| Pappalardo, Ilaria \| Abatematteo, Francesca S. \| Teakel, Sarah \| Van Oosterum, Ashleigh \| Mach, Robert H. \| Denora, Nunzio \| Lee, Byung Chul \| ... \| Cahill, Michael A. International Journal of Molecular Sciences, volume 24, issue 7, pages 6381- (2023). 10.3390/ijms24076381 Cited by (4) \| Cite \| Source
What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis (journal article) Bukvic, Nenad \| Chetta, Massimiliano \| Bagnulo, Rosanna \| Leotta, Valentina \| Pantaleo, Antonino \| Palumbo, Orazio \| Palumbo, Pietro \| Oro, Maria \| Rivieccio, Maria \| Laforgia, Nicola \| ... \| Resta, Nicoletta Genes, volume 14, issue 1, pages 165- (2023). 10.3390/genes14010165 Cited by (3) \| Cite \| Source
Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway (journal article) Carli, Diana \| Resta, Nicoletta \| Ferrero, Giovanni Battista \| Ruggieri, Martino \| Mussa, Alessandro American Journal of Medical Genetics Part C: Seminars in Medical Genetics, volume 190, issue 4, pages 520-529 (2022). 10.1002/ajmg.c.32021 Cited by (5) \| 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
2022-RA-822-ESGO Risk reducing surgery in ovarian cancer (conference) Loizzi, Vera \| Arezzo, Francesca \| Romagno, Isabella \| Dellino, Miriam \| Silvestris, Erica \| Kardhashi, Anila \| Cazzato, Gerardo \| Resta, Leonardo \| Legge, Francesco \| Damiani, Luca \| ... \| Cormio, Gennaro ESGO 2022 Congress (2022) 10.1136/ijgc-2022-ESGO.569 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
Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 gene (journal article) Stella, Alessandro \| Lastella, Patrizia \| Viggiano, Luigi \| Bagnulo, Rosanna \| Resta, Nicoletta Human Mutation, volume 43, issue 10, pages 1354-1360 (2022). 10.1002/humu.24423 Cited by (2) \| Cite \| Source
Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome? (journal article) Beltrami, Benedetta \| Cerasani, Jacopo \| Consales, Alessandra \| Villa, Roberta \| Resta, Nicoletta \| Loconte, Daria Carmela \| Boito, Simona \| Caschera, Luca \| Bassi, Laura \| Colombo, Lorenzo \| ... \| Bedeschi, Maria Francesca Clinical Case Reports, volume 10, issue 8 (2022). 10.1002/ccr3.6256 Cite \| Source
Intraabdominal sporadic desmoid tumors and inflammation: an updated literature review and presentation and insights on pathogenesis of synchronous sporadic mesenteric desmoid tumors occurring after surgery for necrotizing pancreatitis (journal article) Prete, Francesco \| Rotelli, MariaTeresa \| Stella, Alessandro \| Calculli, Giovanna \| Sgaramella, Lucia Ilaria \| Amati, Antonio \| Resta, Nicoletta \| Testini, Mario \| Gurrado, Angela Clinical and Experimental Medicine, volume 23, issue 3, pages 607-617 (2022). 10.1007/s10238-022-00849-6 Cited by (1) \| 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
Lateralized and Segmental Overgrowth in Children (journal article) Mussa, Alessandro \| Carli, Diana \| Cardaropoli, Simona \| Ferrero, Giovanni Battista \| Resta, Nicoletta Cancers, volume 13, issue 24, pages 6166- (2021). 10.3390/cancers13246166 Cited by (11) \| Cite \| Source
Pro‐inflammatory cytokines as emerging molecular determinants in cardiolaminopathies (journal article) Gerbino, Andrea \| Forleo, Cinzia \| Milano, Serena \| Piccapane, Francesca \| Procino, Giuseppe \| Pepe, Martino \| Piccolo, Mara \| Guida, Piero \| Resta, Nicoletta \| Favale, Stefano \| ... \| Carmosino, Monica Journal of Cellular and Molecular Medicine, volume 25, issue 23, pages 10902-10915 (2021). 10.1111/jcmm.16975 Cited by (12) \| Cite \| Source