Nicoletta Resta

Scopus Author ID ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 35

Top Topics

Breast Cancer Risk

Intellectual Disability

Neural Stem Cells

Top Venues

Clinical genetics

International journal of molecular sciences

This page only lists publications with an associated author ORCID identifier.

Publications

Stefania Martino, Pietro D'Addabbo, Antonella Turchiano, Francesca Clementina Radio, Alessandro Bruselles, Viviana Cordeddu, Cecilia Mancini, Alessandro Stella, Nicola Laforgia, Donatella Capodiferro, Simonetta Simonetti, Rosanna Bagnulo, Orazio Palumbo, Flaviana Marzano, Ornella Tabaku, Antonella Garganese, Michele Stasi, Tartaglia Marco, Graziano Pesole, Nicoletta Resta
Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency. International journal of molecular sciences 25 (17) (2024)
Nenad Bukvic, Marta De Rinaldis, Massimiliano Chetta, Antonio Trabacca, Maria Teresa Bassi, René Massimiliano Marsano, Lenka Holoubkova, Maria Rivieccio, Maria Oro, Nicoletta Resta, Jennifer Kerkhof, Bekim Sadikovic, Luigi Viggiano
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. Genes 15 (7) (2024)
Nenad Bukvic, Marta De Rinaldis, Massimiliano Chetta, Antonio Trabacca, Maria Teresa Bassi, René Massimiliano Marsano, Lenka Holoubkova, Maria Rivieccio, Maria Oro, Nicoletta Resta, Jennifer Kerkhof, Bekim Sadikovic, Luigi Viggiano
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. Genes 15 (7) (2024)
Nenad Bukvic, Marta De Rinaldis, Massimiliano Chetta, Antonio Trabacca, Maria Teresa Bassi, René Massimiliano Marsano, Lenka Holoubkova, Maria Rivieccio, Maria Oro, Nicoletta Resta, Jennifer Kerkhof, Bekim Sadikovic, Luigi Viggiano
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. Genes 15 (7) (2024)
Cinzia Forleo, Maria Cristina Carella, Paolo Basile, Eugenio Carulli, Michele Luca Dadamo, Francesca Amati, Francesco Loizzi, Sandro Sorrentino, Ilaria Dentamaro, Marco Maria Dicorato, Stefano Ricci, Rosanna Bagnulo, Matteo Iacoviello, Vincenzo Ezio Santobuono, Carlo Caiati, Martino Pepe, Jean Francois Desaphy, Marco Matteo Ciccone, Nicoletta Resta, Andrea Igoren Guaricci
Missense and Non-Missense Lamin A/C Gene Mutations Are Similarly Associated with Major Arrhythmic Cardiac Events: A 20-Year Single-Centre Experience. Biomedicines 12 (6) (2024)
Cinzia Forleo, Maria Cristina Carella, Paolo Basile, Eugenio Carulli, Michele Luca Dadamo, Francesca Amati, Francesco Loizzi, Sandro Sorrentino, Ilaria Dentamaro, Marco Maria Dicorato, Stefano Ricci, Rosanna Bagnulo, Matteo Iacoviello, Vincenzo Ezio Santobuono, Carlo Caiati, Martino Pepe, Jean Francois Desaphy, Marco Matteo Ciccone, Nicoletta Resta, Andrea Igoren Guaricci
Missense and Non-Missense Lamin A/C Gene Mutations Are Similarly Associated with Major Arrhythmic Cardiac Events: A 20-Year Single-Centre Experience. Biomedicines 12 (6) (2024)
Andrea Gazzin, Chiara Leoni, Germana Viscogliosi, Federica Borgini, Lucrezia Perri, Matteo Iacoviello, Marilidia Piglionica, Maurizio De Pellegrin, Giovanni Battista Ferrero, Andrea Bartuli, Giuseppe Zampino, Paola Sabrina Buonuomo, Nicoletta Resta, Alessandro Mussa, null null
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. Genes 14 (12) (2023)
Antonella Turchiano, Marilidia Piglionica, Stefania Martino, Rosanna Bagnulo, Antonella Garganese, Annunziata De Luisi, Stefania Chirulli, Matteo Iacoviello, Michele Stasi, Ornella Tabaku, Eleonora Meneleo, Martina Capurso, Silvia Crocetta, Simone Lattarulo, Yevheniia Krylovska, Patrizia Lastella, Cinzia Forleo, Alessandro Stella, Nenad Bukvic, Cristiano Simone, Nicoletta Resta
Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer. Genes 14 (8) (2023)
Lenka Stolarova, Petra Kleiblova, Petra Zemankova, Barbora Stastna, Marketa Janatova, Jana Soukupova, Maria Isabel Waddington Achatz, Christine B Ambrosone, Paraskevi Apostolou, Banu K Arun, Paul L Auer, Mollie E Barnard, Birgitte Bertelsen, null null, Marinus J Blok, Nicholas J Boddicker, Joan Brunet, Elizabeth S Burnside, Mariarosaria Calvello, Ian G Campbell, Sock Hoai Chan, Fei Chen, Jian Bang Chiang, Anna Coppa, Laura Cortesi, Ana Crujeiras-González, null null, Kim De Leeneer, Robin de Putter, Allison DePersia, Lisa Devereux, Susan M Domchek, Anna Efremidis, Christoph Engel, Corinna Ernst, Dafydd Gareth Evans, Lidia Feliubadaló, Florentia Fostira, Olivia Fuentes-Ríos, Encarna B Gómez-García, Sara González, Christopher A Haiman, Thomas Van Overeem Hansen, Jan Hauke, James M Hodge, Chunling Hu, Hongyan Huang, Nur Diana Binte Ishak, Yusuke Iwasaki, Irene Konstantopoulou, Peter Kraft, James V Lacey, Conxi Lazaro Garcia, Na Li, Weng Khong Lim, Sara Lindström, Adriana Lori, María Elena Martínez, Alexandra Martins, Koichi Matsuda, Giuseppe Matullo, Simone McInerny, Kyriaki Michailidou, Marco Montagna, Alvaro N A Monteiro, Luigi Mori, Katherine L Nathanson, Susan L Neuhausen, Heli Nevanlinna, Janet E Olson, Julie R Palmer, Barbara Pasini, Alpa V Patel, Maria Piane, Bruce Poppe, Paolo Radice, Alessandra Renieri, Nicoletta Resta, Marcy E Richardson, Toon Rosseel, Kathryn J Ruddy, Marta Santamariña, Elizabeth Santana Dos Santos, Lauren R Teras, Amanda Ewart Toland, Amy Trentham-Dietz, Celine M Vachon, Alexander E Volk, Nana Weber-Lassalle, Jeffrey N Weitzel, Lisa Wiesmuller, Stacey J Winham, Siddhartha Yadav, Drakoulis Yannoukakos, Song Yao, Valentina Zampiga, Magnus Zethoven, Ze Wen Zhang, Tomáš Zima, Amanda B Spurdle, Ana Vega, Maria Rossing, Jesús Del Valle, Arcangela De Nicolo, Eric Hahnen, Kathleen B M Claes, Joanne Ngeow Yuen Yie, Yukihide Momozawa, Paul A James, Fergus J Couch, Libor Macůrek, Zdenek Kleibl
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk. Clinical cancer research : an official journal of the American Association for Cancer Research (2023)
Andrea Gazzin, Chiara Leoni, Germana Viscogliosi, Federica Borgini, Lucrezia Perri, Matteo Iacoviello, Marilidia Piglionica, Maurizio De Pellegrin, Giovanni Battista Ferrero, Andrea Bartuli, Giuseppe Zampino, Paola Sabrina Buonuomo, Nicoletta Resta, Alessandro Mussa, null null
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. Genes 14 (12) (2023)
Maria Luca, Marilidia Piglionica, Rosanna Bagnulo, Simona Cardaropoli, Diana Carli, Antonella Turchiano, Paola Coppo, Antonino Pantaleo, Matteo Iacoviello, Giovanni Battista Ferrero, Alessandro Mussa, Nicoletta Resta
The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth. Genes, chromosomes & cancer (2023)
Nenad Bukvic, Massimiliano Chetta, Rosanna Bagnulo, Valentina Leotta, Antonino Pantaleo, Orazio Palumbo, Pietro Palumbo, Maria Oro, Maria Rivieccio, Nicola Laforgia, Marta De Rinaldis, Alessandra Rosati, Jennifer Kerkhof, Bekim Sadikovic, Nicoletta Resta
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. Genes 14 (1) (2023)
Nenad Bukvic, Massimiliano Chetta, Rosanna Bagnulo, Valentina Leotta, Antonino Pantaleo, Orazio Palumbo, Pietro Palumbo, Maria Oro, Maria Rivieccio, Nicola Laforgia, Marta De Rinaldis, Alessandra Rosati, Jennifer Kerkhof, Bekim Sadikovic, Nicoletta Resta
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. Genes 14 (1) (2023)
Nenad Bukvic, Massimiliano Chetta, Rosanna Bagnulo, Valentina Leotta, Antonino Pantaleo, Orazio Palumbo, Pietro Palumbo, Maria Oro, Maria Rivieccio, Nicola Laforgia, Marta De Rinaldis, Alessandra Rosati, Jennifer Kerkhof, Bekim Sadikovic, Nicoletta Resta
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. Genes 14 (1) (2023)
Bashar M Thejer, Vittoria Infantino, Anna Santarsiero, Ilaria Pappalardo, Francesca Serena Abatematteo, Sarah Teakel, Ashleigh Van Oosterum, Robert H Mach, Nunzio Denora, Byung-Chul Lee, Nicoletta Resta, Rosanna Bagnulo, Mauro Niso, Marialessandra Contino, Bianca Montsch, Petra Heffeter, Carmen Abate, Michael A Cahill
Sigma-2 Receptor Ligand Binding Modulates Association between TSPO and TMEM97. International journal of molecular sciences 24 (7) (2023)
Andrea Gazzin, Chiara Leoni, Germana Viscogliosi, Federica Borgini, Lucrezia Perri, Matteo Iacoviello, Marilidia Piglionica, Maurizio De Pellegrin, Giovanni Battista Ferrero, Andrea Bartuli, Giuseppe Zampino, Paola Sabrina Buonuomo, Nicoletta Resta, Alessandro Mussa, null null
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. Genes 14 (12) (2023)
Giuseppe Reynolds, Simona Cardaropoli, Diana Carli, Maria Luca, Andrea Gazzin, Paola Coppo, Roberta La Selva, Marilidia Piglionica, Rosanna Bagnulo, Antonella Turchiano, Carlotta Ranieri, Nicoletta Resta, Alessandro Mussa
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros). European journal of human genetics : EJHG (2023)
Nenad Bukvic, Massimiliano Chetta, Rosanna Bagnulo, Valentina Leotta, Antonino Pantaleo, Orazio Palumbo, Pietro Palumbo, Maria Oro, Maria Rivieccio, Nicola Laforgia, Marta De Rinaldis, Alessandra Rosati, Jennifer Kerkhof, Bekim Sadikovic, Nicoletta Resta
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. Genes 14 (1) (2023)
Alessandro Mussa, Antonella Turchiano, Simona Cardaropoli, Paola Coppo, Antonino Pantaleo, Rosanna Bagnulo, Carlotta Ranieri, Matteo Iacoviello, Antonella Garganese, Alessandro Stella, Stefano Gabriele Vallero, Daniele Bertin, Federica Santoro, Diana Carli, Giovanni Battista Ferrero, Nicoletta Resta
Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies. Genes, chromosomes & cancer 61 (11) (2022)
Antonella Turchiano, Daria Carmela Loconte, Rosalba De Nola, Francesca Arezzo, Giulia Chiarello, Antonino Pantaleo, Matteo Iacoviello, Rosanna Bagnulo, Annunziata De Luisi, Sonia Perrelli, Stefania Martino, Carlotta Ranieri, Antonella Garganese, Alessandro Stella, Cinzia Forleo, Vera Loizzi, Marco Marinaccio, Ettore Cicinelli, Gennaro Cormio, Nicoletta Resta
Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers. Cancers 14 (2) (2022)
Diana Carli, Nicoletta Resta, Giovanbattista Giovanni Battista Ferrero, Martino Ruggieri, Alessandro Mussa
Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway. American journal of medical genetics. Part C, Seminars in medical genetics (2022)
Alessandro Stella, Patrizia Lastella, Luigi Viggiano, Rosanna Bagnulo, Nicoletta Resta
Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 gene. Human mutation 43 (10) (2022)
Alessandro Mussa, Chiara Leoni, Matteo Iacoviello, Diana Carli, Carlotta Ranieri, Antonino Pantaleo, Paola Sabrina Buonuomo, Rosanna Bagnulo, Giovanni Battista Ferrero, Andrea Bartuli, Daniela Melis, Silvia Maitz, Daria Carmela Loconte, Antonella Turchiano, Marilidia Piglionica, Annunziata De Luisi, Francesco Claudio Susca, Nenad Bukvic, Cinzia Forleo, Angelo Selicorni, Giuseppe Zampino, Roberta Onesimo, Gerarda Cappuccio, Livia Garavelli, Chiara Novelli, Luigi Memo, Carla Morando, Matteo Della Monica, Maria Accadia, Martina Capurso, Carmelo Piscopo, Anna Cereda, Marilena Carmela Di Giacomo, Veronica Saletti, Alessandro Mauro Spinelli, Patrizia Lastella, Romano Tenconi, Veronika Dvorakova, Alan D Irvine, Nicoletta Resta
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants. Journal of medical genetics (2022)
Annie Laquerriere, Dana Jaber, Emanuela Abiusi, Jérome Maluenda, Dan Mejlachowicz, Alexandre Vivanti, Klaus Dieterich, Radka Stoeva, Loic Quevarec, Flora Nolent, Valerie Biancalana, Philippe Latour, Damien Sternberg, Yline Capri, Alain Verloes, Bettina Bessieres, Laurence Loeuillet, Tania Attie-Bitach, Jelena Martinovic, Sophie Blesson, Florence Petit, Claire Beneteau, Sandra Whalen, Florent Marguet, Jerome Bouligand, Delphine Héron, Géraldine Viot, Jeanne Amiel, Daniel Amram, Céline Bellesme, Martine Bucourt, Laurence Olivier-Faivre, Pierre-Simon Jouk, Suonavy Khung, Sabine Sigaudy, Anne-Lise Delezoide, Alice Goldenberg, Marie-Line Jacquemont, Laetitia Lambert, Valérie Layet, Stanislas Lyonnet, Arnold Munnich, Lionel Van Maldergem, Juliette Piard, Fabien Guimiot, Pierre Landrieu, Pascaline Letard, Fanny Pelluard, Laurence Perrin, Marie-Hélène Saint-Frison, Haluk Topaloglu, Laetitia Trestard, Catherine Vincent-Delorme, Helge Amthor, Christine Barnerias, Alexandra Benachi, Eric Bieth, Elise Brischoux-Boucher, Valerie Cormier-Daire, Andrée Delahaye-Duriez, Isabelle Desguerre, Bruno Eymard, Christine Francannet, Sarah Grotto, Didier Lacombe, Fanny Laffargue, Marine Legendre, Dominique Martin-Coignard, André Mégarbané, Sandra Mercier, Mathilde Nizon, Luc Rigonnot, Fabienne Prieur, Chloé Quélin, Hanitra Ranjatoelina-Randrianaivo, Nicoletta Resta, Annick Toutain, Helene Verhelst, Marie Vincent, Estelle Colin, Catherine Fallet-Bianco, Michèle Granier, Romulus Grigorescu, Julien Saada, Marie Gonzales, Anne Guiochon-Mantel, Jean-Louis Bessereau, Marcel Tawk, Ivo Gut, Cyril Gitiaux, Judith Melki
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita. Journal of medical genetics (2021)
Diana Carli, Giovanbattista Giovanni Battista Ferrero, Anna Fusillo, Paola Coppo, Roberta La Selva, Federica Zinali, Simona Cardaropoli, Carlotta Ranieri, Matteo Iacoviello, Nicoletta Resta, Alessandro Mussa
A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth. Clinical genetics 99 (5) (2021)
Diana Carli, Silvia Kalantari, Rosaria Manicone, Paola Coppo, Paola Francia di Celle, Roberta La Selva, Federica Santoro, Carlotta Ranieri, Simona Cardaropoli, Franca Fagioli, Giovanni Battista Ferrero, Nicoletta Resta, Alessandro Mussa
Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA-related overgrowth spectrum. Clinical genetics 100 (5) (2021)
Margherita Patruno, Simona De Summa, Nicoletta Resta, Mariapia Caputo, Silvia Costanzo, Maria Digennaro, Brunella Pilato, Rosanna Bagnulo, Antonino Pantaleo, Cristiano Simone, Maria Iole Natalicchio, Elisabetta De Matteis, Paolo Tarantino, Stefania Tommasi, Angelo Virgilio Paradiso
Spectrum of Germline Pathogenic Variants in BRCA1/2 Genes in the Apulian Southern Italy Population: Geographic Distribution and Evidence for Targeted Genetic Testing. Cancers 13 (18) (2021)
Alessandro Mussa, Diana Carli, Simona Cardaropoli, Giovanni Battista Ferrero, Nicoletta Resta
Lateralized and Segmental Overgrowth in Children. Cancers 13 (24) (2021)
Maurizio Delvecchio, Federica Ortolani, Orazio Palumbo, Concetta Aloi, Alessandro Salina, Francesco Claudio Susca, Pietro Palumbo, Massimo Carella, Nicoletta Resta, Elvira Piccinno
A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4. International journal of molecular sciences 22 (15) (2021)
Maurizio Delvecchio, Matteo Iacoviello, Antonino Pantaleo, Nicoletta Resta
Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype-Phenotype Correlations. International journal of environmental research and public health 18 (9) (2021)
Nicoletta Resta, Olga Calabrese, Valentina Grossi, Licia Lugli, Cristiano Simone, Carlotta Ranieri, Marilidia Piglionica, Martina Lepore Signorile, Katia Rossi, Diana Carli, Alessandro Mussa
Correspondence on "Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities," by Carmignac et al. Genetics in medicine : official journal of the American College of Medical Genetics 23 (11) (2021)
Mattia Gentile, Carlotta Ranieri, Daria C Loconte, Emanuela Ponzi, Romina Ficarella, Paolo Volpe, Gabriele Scalzo, Martina Lepore Signorile, Valentina Grossi, Angela Cordella, Giovanna Maria Ventola, Francesco C Susca, Antonella Turchiano, Cristiano Simone, Nicoletta Resta
Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects. Clinical genetics 99 (3) (2020)
Chiara Leoni, Giuseppe Gullo, Nicoletta Resta, Anna Fagotti, Roberta Onesimo, Brian Schwartz, Julia Kazakin, Giovanni Abbadessa, John Crown, Conor D Collins, Carlotta Ranieri, Giovanni Scambia, Giuseppe Zampino
First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma. American journal of medical genetics. Part A 179 (7) (2019)
Chiara Leoni, Roberta Onesimo, Nicoletta Resta, Maria L Patti, Rita De Santis, Rosanna Bagnulo, Luca Russo, Riccardo Manfredi, Maurizio Genuardi, Giuseppe Zampino
Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia. Clinical genetics 96 (1) (2019)
Marcella Zollino, Carlotta Ranieri, Valentina Grossi, Chiara Leoni, Serena Lattante, Daniela Mazzà, Cristiano Simone, Nicoletta Resta
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay. Molecular genetics & genomic medicine 7 (8) (2019)