Silvia Genovesea (Silvia Genovese)

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 11

Top Venues

American journal of medical genetics. Part A

International journal of molecular sciences

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

Publications

Antonietta Lombardo, Lorenzo Sinibaldi, Silvia Genovesea, Giorgia Catino, Valerio Mei, Daniele Pompili, Ester Sallicandro, Roberto Falasca, Maria Teresa Liambo, Maria Vittoria Faggiano, Maria Cristina Roberti, Maddalena Di Donato, Anna Vitelli, Serena Russo, Rosalinda Giannini, Alessia Micalizzi, Nicola Pietrafusa, Maria Cristina Digilio, Antonio Novelli, Lucia Fusco, Viola Alesi
A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism. International journal of molecular sciences 25 (13) (2024)
Antonietta Lombardo, Lorenzo Sinibaldi, Silvia Genovesea, Giorgia Catino, Valerio Mei, Daniele Pompili, Ester Sallicandro, Roberto Falasca, Maria Teresa Liambo, Maria Vittoria Faggiano, Maria Cristina Roberti, Maddalena Di Donato, Anna Vitelli, Serena Russo, Rosalinda Giannini, Alessia Micalizzi, Nicola Pietrafusa, Maria Cristina Digilio, Antonio Novelli, Lucia Fusco, Viola Alesi
A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism. International journal of molecular sciences 25 (13) (2024)
Antonietta Lombardo, Lorenzo Sinibaldi, Silvia Genovesea, Giorgia Catino, Valerio Mei, Daniele Pompili, Ester Sallicandro, Roberto Falasca, Maria Teresa Liambo, Maria Vittoria Faggiano, Maria Cristina Roberti, Maddalena Di Donato, Anna Vitelli, Serena Russo, Rosalinda Giannini, Alessia Micalizzi, Nicola Pietrafusa, Maria Cristina Digilio, Antonio Novelli, Lucia Fusco, Viola Alesi
A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism. International journal of molecular sciences 25 (13) (2024)
Giorgia Catino, Silvia Genovesea, Silvia Di Tommaso, Valeria Orlando, Maria Teresa Petti, Margherita Lucia De Bernardi, Bruno Dallapiccola, Antonio Novelli, Lucia Ulgheri, Carmelo Piscopo, Viola Alesi
Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability. American journal of medical genetics. Part A 188 (6) (2022)
Maria Christina Digilio, Giulio Calcagni, Maria Gnazzo, Paolo Versacci, Maria Lisa Dentici, Rossella Capolino, Lorenzo Sinibaldi, Anwar Baban, Carolina Putotto, Paolo Alfieri, Marta Unolt, Francesca Romana Lepri, Viola Alesi, Silvia Genovesea, Antonio Novelli, Bruno Marino, Bruno Dallapiccola
Congenital heart defects in molecularly confirmed KBG syndrome patients. American journal of medical genetics. Part A 188 (4) (2021)
Bradley S Bowles, Alejandro Ferrer, Carla J Nishimura, Filippo Pinto E Vairo, Tristan Rey, Bruno Leheup, Jennifer A Sullivan, Kelly Schoch, Nicholas Stong, Emanuele Agolini, Dario Cocciadiferro, Abigail Williams, Alex Cummings, Sara Loddo, Silvia Genovesea, Chelsea Roadhouse, Kirsty McWalter, null null, Ingrid M Wentzensen, Chumei Li, Dusica Babovic-Vuksanovic, Brendan C Lanpher, Maria Lisa Dentici, Arunkanth Ankala, J Austin Hamm, Bruno Dallapiccola, Francesca Clementina Radio, Vandana Shashi, Benedicte Gérard, Agnes Bloch-Zupan, Richard J Smith, Eric W Klee
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study. American journal of medical genetics. Part A 185 (8) (2021)
Sara Loddo, Viola Alesi, Francesca Clementina Radio, Silvia Genovesea, Silvia Di Tommaso, Giusy Calvieri, Valeria Orlando, Enrico Bertini, Maria Lisa Dentici, Antonio Novelli, Bruno Dallapiccola
PPP1R21-related syndromic intellectual disability: Report of an adult patient and review. American journal of medical genetics. Part A 182 (12) (2020)
Viola Alesi, Sara Loddo, Valeria Orlando, Silvia Genovesea, Silvia Di Tommaso, Maria Teresa Liambo, Daniele Pompili, Daniele Ferretti, Chiara Calacci, Giorgia Catino, Roberto Falasca, Maria Lisa Dentici, Antonio Novelli, Maria Cristina Digilio, Bruno Dallapiccola
Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile. American journal of medical genetics. Part A 185 (1) (2020)
Maria Gnazzo, Francesca Romana Lepri, Maria Lisa Dentici, Rossella Capolino, Elisa Pisaneschi, Emanuele Agolini, Martina Rinelli, Viola Alesi, Paolo Versacci, Silvia Genovesea, Claudia Cesario, Lorenzo Sinibaldi, Anwar Baban, Andrea Bartuli, Bruno Marino, Marco Cappa, Bruno Dallapiccola, Antonio Novelli, Maria Christina Digilio
KBG syndrome: Common and uncommon clinical features based on 31 new patients. American journal of medical genetics. Part A 182 (5) (2020)
Viola Alesi, Sara Loddo, Federica Calì, Valeria Orlando, Silvia Genovesea, Daniele Ferretti, Chiara Calacci, Giusy Calvieri, Roberto Falasca, Lucia Ulgheri, Fabrizio Drago, Bruno Dallapiccola, Anwar Baban, Antonio Novelli
A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome. American journal of medical genetics. Part A 179 (8) (2019)
Viola Alesi, Rossella Capolino, Silvia Genovesea, Teresa Capriati, Sara Loddo, Giusy Calvieri, Chiara Calacci, Andrea Diociaiuti, Antonella Diamanti, Antonio Novelli, Bruno Dallapiccola
An additional patient with a homozygous mutation in DCPS contributes to the delination of Al-Raqad syndrome. American journal of medical genetics. Part A 176 (12) (2018)

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Publication Activity (10 Years)

Top Topics

Top Venues

Silvia Genovesea (Silvia Genovese)