Laura Bernardini

ORCID

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 33

Top Venues

American journal of medical genetics. Part A

Genes

Diagnostics (Basel, Switzerland)

European journal of human genetics : EJHG

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

Publications

Daniele Guadagnolo, Gioia Mastromoro, Barbara Torres, Enrica Marchionni, Francesca di Palma, Marina Goldoni, Dario Cocciadiferro, Antonio Novelli, Laura Bernardini, Antonio Pizzuti
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region. Genes 14 (12) (2023)
Francesca Piceci-Sparascio, Lucia Micale, Barbara Torres, Valentina Guida, Federica Consoli, Isabella Torrente, Annamaria Onori, Emanuela Frustaci, Maria Cecilia D'Asdia, Francesco Petrizzelli, Laura Bernardini, Cecilia Mancini, Fiorenza Soli, Dario Cocciadiferro, Daniele Guadagnolo, Gioia Mastromoro, Carolina Putotto, Franco Fontana, Nicola Brunetti-Pierri, Antonio Novelli, Antonio Pizzuti, Bruno Marino, Maria Cristina Digilio, Tommaso Mazza, Bruno Dallapiccola, Victor Luis Ruiz-Perez, Tartaglia Marco, Marco Castori, Alessandro De Luca
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome. European journal of human genetics : EJHG (2023)
Daniele Guadagnolo, Gioia Mastromoro, Barbara Torres, Enrica Marchionni, Francesca di Palma, Marina Goldoni, Dario Cocciadiferro, Antonio Novelli, Laura Bernardini, Antonio Pizzuti
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region. Genes 14 (12) (2023)
Gioia Mastromoro, Daniele Guadagnolo, Enrica Marchionni, Barbara Torres, Marina Goldoni, Annamaria Onori, Laura Bernardini, Alessandro De Luca, Isabella Torrente, Antonio Pizzuti
Mosaic genome-wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells. American journal of medical genetics. Part A 191 (4) (2023)
Francesca Piceci-Sparascio, Lucia Micale, Barbara Torres, Valentina Guida, Federica Consoli, Isabella Torrente, Annamaria Onori, Emanuela Frustaci, Maria Cecilia D'Asdia, Francesco Petrizzelli, Laura Bernardini, Cecilia Mancini, Fiorenza Soli, Dario Cocciadiferro, Daniele Guadagnolo, Gioia Mastromoro, Carolina Putotto, Franco Fontana, Nicola Brunetti-Pierri, Antonio Novelli, Antonio Pizzuti, Bruno Marino, Maria Cristina Digilio, Tommaso Mazza, Bruno Dallapiccola, Victor Luis Ruiz-Perez, Tartaglia Marco, Marco Castori, Alessandro De Luca
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome. European journal of human genetics : EJHG (2023)
Daniele Guadagnolo, Gioia Mastromoro, Barbara Torres, Enrica Marchionni, Francesca di Palma, Marina Goldoni, Dario Cocciadiferro, Antonio Novelli, Laura Bernardini, Antonio Pizzuti
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region. Genes 14 (12) (2023)
Gioia Mastromoro, Daniele Guadagnolo, Enrica Marchionni, Barbara Torres, Marina Goldoni, Annamaria Onori, Laura Bernardini, Alessandro De Luca, Isabella Torrente, Antonio Pizzuti
Mosaic genome-wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells. American journal of medical genetics. Part A 191 (4) (2023)
Irene Ambrosetti, Laura Bernardini, Marzia Pollazzon, Maria Grazia Giuffrida, Valentina Guida, Francesca Peluso, Maria Chiara Baroni, Valeria Polizzi, Manuela Napoli, Simonetta Rosato, Gabriele Trimarchi, Chiara Gelmini, Stefano Giuseppe Caraffi, Anita Wischmeijer, Daniele Frattini, Antonio Novelli, Livia Garavelli
Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes. Genes 14 (8) (2023)
Gioia Mastromoro, Daniele Guadagnolo, Enrica Marchionni, Barbara Torres, Marina Goldoni, Annamaria Onori, Laura Bernardini, Alessandro De Luca, Isabella Torrente, Antonio Pizzuti
Mosaic genome-wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells. American journal of medical genetics. Part A 191 (4) (2023)
Alessia Azzarà, Ilaria Cassano, Carla Lintas, Laura Bernardini, Fabio Pilato, Fioravante Capone, Vincenzo Di Lazzaro, Fiorella Gurrieri
A new gene for autosomal dominant facial palsy/migraine identified in a family by whole exome sequencing. European journal of neurology (2023)
Malek Bouassida, Matthieu Egloff, Jonathan Levy, Nicolas Chatron, Laura Bernardini, Gwenaël L E Guyader, Anne-Claude Tabet, Caroline Schluth-Bolard, Francesco Brancati, Maria Grazia Giuffrida, Rodolphe Dard, Juliette Clorennec, Juliette Coursimault, François Vialard, Bérénice Hervé
2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review. European journal of human genetics : EJHG (2023)
Daniele Guadagnolo, Gioia Mastromoro, Barbara Torres, Enrica Marchionni, Francesca di Palma, Marina Goldoni, Dario Cocciadiferro, Antonio Novelli, Laura Bernardini, Antonio Pizzuti
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region. Genes 14 (12) (2023)
Gioia Mastromoro, Daniele Guadagnolo, Enrica Marchionni, Barbara Torres, Marina Goldoni, Annamaria Onori, Laura Bernardini, Alessandro De Luca, Isabella Torrente, Antonio Pizzuti
Mosaic genome-wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells. American journal of medical genetics. Part A (2023)
Gioia Mastromoro, Daniele Guadagnolo, Nader Khaleghi Hashemian, Laura Bernardini, Antonella Giancotti, Gerardo Piacentini, Alessandro De Luca, Antonio Pizzuti
A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma-Systematic Review of the Literature, Meta-Analysis and Case Series. Diagnostics (Basel, Switzerland) 13 (1) (2022)
Mary R Sy, Jaynee Chauhan, Katrina Prescott, Aliza Imam, Alison Kraus, Ana Beleza, Lee Salkeld, Saraswati Hosdurga, Michael Parker, Pradeep Vasudevan, Lily Islam, Himanshu Goel, Nicole Bain, Soo-Mi Park, Shehla Mohammed, Klaus Dieterich, Charles Coutton, Véronique Satre, Gaëlle Vieville, Alan Donaldson, Claire Beneteau, Jamal Ghoumid, Kris Van Den Bogaert, Anneleen Boogaerts, Elise Boudry, Clémence Vanlerberghe, Florence Petit, Laura Bernardini, Barbara Torres, Teresa Mattina, Diana Carli, Giorgia Mandrile, Michele Pinelli, Nicola Brunetti-Pierri, Katherine Neas, Rachel Beddow, Pernille M Tørring, Flavio Faletra, Beatrice Spedicati, Paolo Gasparini, Alessandro Mussa, Giovanni Battista Ferrero, Anne Lampe, Wayne Lam, Weimin Bi, Carlos A Bacino, Akela Kuwahara, Jeffrey O Bush, Xiaonan Zhao, Pamela N Luna, Chad A Shaw, Jill A Rosenfeld, Daryl A Scott
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus. American journal of medical genetics. Part A 188 (12) (2022)
Carolina Putotto, Federica Pulvirenti, Flaminia Pugnaloni, Ina Isufi, Marta Unolt, Silvia Anaclerio, Viviana Caputo, Laura Bernardini, Elisa Messina, Corrado Moretti, Luigi Tarani, Bruno Marino, Paolo Versacci
Clinical Risk Factors for Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome: A Longitudinal Single-Center Study. Genes 13 (12) (2022)
Francesca Nardecchia, Anna Caciotti, Teresa Giovanniello, Sabrina De Leo, Lorenzo Ferri, Serena Galosi, Silvia Santagata, Barbara Torres, Laura Bernardini, Claudia Carducci, Amelia Morrone, Vincenzo Leuzzi
3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature. International journal of molecular sciences 23 (8) (2022)
Gioia Mastromoro, Daniele Guadagnolo, Nader Khaleghi Hashemian, Laura Bernardini, Antonella Giancotti, Gerardo Piacentini, Alessandro De Luca, Antonio Pizzuti
A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma-Systematic Review of the Literature, Meta-Analysis and Case Series. Diagnostics (Basel, Switzerland) 13 (1) (2022)
Carolina Putotto, Federica Pulvirenti, Flaminia Pugnaloni, Ina Isufi, Marta Unolt, Silvia Anaclerio, Viviana Caputo, Laura Bernardini, Elisa Messina, Corrado Moretti, Luigi Tarani, Bruno Marino, Paolo Versacci
Clinical Risk Factors for Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome: A Longitudinal Single-Center Study. Genes 13 (12) (2022)
Carolina Putotto, Federica Pulvirenti, Flaminia Pugnaloni, Ina Isufi, Marta Unolt, Silvia Anaclerio, Viviana Caputo, Laura Bernardini, Elisa Messina, Corrado Moretti, Luigi Tarani, Bruno Marino, Paolo Versacci
Clinical Risk Factors for Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome: A Longitudinal Single-Center Study. Genes 13 (12) (2022)
Maria Grazia Giuffrida, Marina Goldoni, Maria Luce Genovesi, Giovanna Carpentieri, Barbara Torres, Anca Daniela Deac, Serena Cecchetti, Anna Martinelli, Alessandro Vaisfeld, Elisabetta Flex, Laura Bernardini
3'UTR Deletion of NONO Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein's Anomaly in a Male Fetus. Diagnostics (Basel, Switzerland) 12 (10) (2022)
Amy Hardcastle, Aliska M Berry, Ian M Campbell, Xiaonan Zhao, Pengfei Liu, Amanda E Gerard, Jill A Rosenfeld, Saumya D Sisoudiya, Andres Hernandez-Garcia, Sara Loddo, Silvia Di Tommaso, Antonio Novelli, Maria Lisa Dentici, Rossella Capolino, Maria C Digilio, Ludovico Graziani, Cecilie F Rustad, Katherine Neas, Giovanni B Ferrero, Alfredo Brusco, Eleonora Di Gregorio, Diana Wellesley, Claire Beneteau, Madeleine Joubert, Kris Van Den Bogaert, Anneleen Boogaerts, Dominic J McMullan, John Dean, Maria G Giuffrida, Laura Bernardini, Vinod Varghese, Nora L Shannon, Rachel E Harrison, Wayne W K Lam, Shane McKee, Peter D Turnpenny, Trevor Cole, Jenny Morton, Jacqueline Eason, Marilyn C Jones, Rebecca Hall, Michael Wright, Karen Horridge, Chad A Shaw, Wendy K Chung, Daryl A Scott
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data. American journal of medical genetics. Part A 188 (10) (2022)
Carolina Putotto, Federica Pulvirenti, Flaminia Pugnaloni, Ina Isufi, Marta Unolt, Silvia Anaclerio, Viviana Caputo, Laura Bernardini, Elisa Messina, Corrado Moretti, Luigi Tarani, Bruno Marino, Paolo Versacci
Clinical Risk Factors for Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome: A Longitudinal Single-Center Study. Genes 13 (12) (2022)
Gioia Mastromoro, Nader Khaleghi Hashemian, Daniele Guadagnolo, Maria Grazia Giuffrida, Barbara Torres, Laura Bernardini, Flavia Ventriglia, Gerardo Piacentini, Antonio Pizzuti
Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis. Diagnostics (Basel, Switzerland) 12 (6) (2022)
Gioia Mastromoro, Daniele Guadagnolo, Nader Khaleghi Hashemian, Laura Bernardini, Antonella Giancotti, Gerardo Piacentini, Alessandro De Luca, Antonio Pizzuti
A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma-Systematic Review of the Literature, Meta-Analysis and Case Series. Diagnostics (Basel, Switzerland) 13 (1) (2022)
Marianna Farnè, Laura Bernardini, Anna Capalbo, Giusy Cavarretta, Barbara Torres, Mariabeatrice Sanchini, Sergio Fini, Alessandra Ferlini, Stefania Bigoni
Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype. American journal of medical genetics. Part A (2021)
Valentina Guida, Luciano Calzari, Maria Teresa Fadda, Francesca Piceci-Sparascio, Maria Cristina Digilio, Laura Bernardini, Francesco Brancati, Teresa Mattina, Daniela Melis, Francesca Forzano, Silvana Briuglia, Tommaso Mazza, Sebastiano Bianca, Enza Maria Valente, Leila Bagherjad Salehi, Paolo Prontera, Mario Pagnoni, Romano Tenconi, Bruno Dallapiccola, Giorgio Iannetti, Luigi Corsaro, Alessandro De Luca, Davide Gentilini
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS). International journal of molecular sciences 22 (3) (2021)
Paola Pontecorvi, Francesca Megiorni, Simona Camero, Simona Ceccarelli, Laura Bernardini, Anna Capalbo, Eleni Anastasiadou, Giulia Gerini, Elena Messina, Giorgia Perniola, Pierluigi Benedetti Panici, Paola Grammatico, Antonio Pizzuti, Cinzia Marchese
Altered Expression of Candidate Genes in Mayer-Rokitansky-Küster-Hauser Syndrome May Influence Vaginal Keratinocytes Biology: A Focus on Protein Kinase X. Biology 10 (6) (2021)
Aurora Arghir, Sorina Mihaela Papuc, Andreea-Cristina Tutulan-Cunita, Alina Erbescu, Sara Loddo, Silvia Genovese, Laura Ciocca, Marina Goldoni, Carmelo Piscopo, Laura Bernardini, Antonio Novelli, Magdalena Budisteanu
Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review. Clinical case reports 9 (1) (2020)
Hadia Hijazi, Fernanda S Coelho, Claudia Gonzaga-Jauregui, Laura Bernardini, Soe S Mar, Melanie A Manning, Andrea Hanson-Kahn, SakkuBai Naidu, Siddharth Srivastava, Jennifer A Lee, Julie R Jones, Michael J Friez, Thomas Alberico, Barbara Torres, Ping Fang, Sau Wai Cheung, Xiaofei Song, Angelique Davis-Williams, Carly Jornlin, Patricia A Wight, Pankaj Patyal, Jennifer Taube, Andrea Poretti, Ken Inoue, Feng Zhang, Davut Pehlivan, Cláudia M B Carvalho, Grace M Hobson, James R. Lupski
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. Human mutation 41 (1) (2019)
Lorenzo Sinibaldi, Valentina Parisi, Silvia Lanciotti, Paolo Fontana, Alma Kuechler, Genevieve Baujat, Barbara Torres, Judith Koetting, Alessandra Splendiani, Diana Postorivo, Jasmin Beygo, Francesco G Garaci, Valerie Malan, Hermann-Josef Lüdecke, Valentina Guida, Mandy Krumbiegel, Fortunato Lonardo, Antonio Novelli, Beate Albrecht, Chiara Perria, Gioacchino Scarano, Malte Spielmann, Annamaria M Nardone, Agatino Battaglia, Francesco Brancati, Laura Bernardini
Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes. Clinical genetics 96 (3) (2019)
Maria G Giuffrida, Gioia Mastromoro, Valentina Guida, Mauro Truglio, Maria Fabbretti, Barbara Torres, Tommaso Mazza, Alessandro De Luca, Mario Roggini, Laura Bernardini, Antonio Pizzuti
A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1. American journal of medical genetics. Part A 182 (3) (2019)
Laura Bernardini, Francesca Clementina Radio, Fabio Acquaviva, Cristina Gorgone, Diana Postorivo, Barbara Torres, Viola Alesi, Monia Magliozzi, Fortunato Lonardo, Matteo Della Monica, Anna M Nardone, Claudia Cesario, Teresa Mattina, Gioacchino Scarano, Bruno Dallapiccola, Maria Christina Digilio, Antonio Novelli
Small 4p16.3 deletions: Three additional patients and review of the literature. American journal of medical genetics. Part A 176 (11) (2018)

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Publication Activity (10 Years)

Top Topics

Top Venues

Laura Bernardini