Maurizio Genuardi

Publication Activity (10 Years)

Years Active: 2015-2024
Publications (10 Years): 18

Top Topics

Intellectual Disability

Polycystic Kidney Disease

Top Venues

European journal of human genetics : EJHG

International journal of molecular sciences

Gastroenterology report

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

Publications

Antonio Grieco, Rosy Terranova, Nicholas Viceconti, Giuseppe Marrone, Luca Miele, Maria Cristina Giustiniani, Paola Francalanci, Annalisa Gazzellone, Alessia Bauleo, Elena Falcone, Maurizio Genuardi, Antonio Grieco
A novel ABCB11 variant in compound heterozygosity: BRIC2 or PFIC2? Gastroenterology report 12 (2024)
Marianne Geilswijk, Maurizio Genuardi, Emma Roisin Woodward, Katie Nightingale, Jazzmin Huber, Mia Gebauer Madsen, Dieke Liekelema-van der Heij, Ian Lisseman, Jenny Marlé-Ballangé, Cormac McCarthy, Fred H Menko, R Jeroen A van Moorselaar, Elzbieta Radzikowska, Stéphane Richard, Neil Rajan, Mette Sommerlund, Maria T A Wetscherek, Nataliya Di Donato, Eamonn R Maher, Joan Brunet
ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome. European journal of human genetics : EJHG (2024)
Antonio Grieco, Rosy Terranova, Nicholas Viceconti, Giuseppe Marrone, Luca Miele, Maria Cristina Giustiniani, Paola Francalanci, Annalisa Gazzellone, Alessia Bauleo, Elena Falcone, Maurizio Genuardi, Antonio Grieco
A novel ABCB11 variant in compound heterozygosity: BRIC2 or PFIC2? Gastroenterology report 12 (2024)
Domizia Pasquetti, Annalisa Gazzellone, Salvatore Rossi, Daniela Orteschi, Federica Francesca L'Erario, Paola Concolino, Angelo Minucci, Carlo Dionisi-Vici, Maurizio Genuardi, Gabriella Silvestri, Pietro Chiurazzi
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability. International journal of molecular sciences 25 (1) (2023)
Domizia Pasquetti, Annalisa Gazzellone, Salvatore Rossi, Daniela Orteschi, Federica Francesca L'Erario, Paola Concolino, Angelo Minucci, Carlo Dionisi-Vici, Maurizio Genuardi, Gabriella Silvestri, Pietro Chiurazzi
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability. International journal of molecular sciences 25 (1) (2023)
Eugenio Sangiorgi, Federico Giannuzzi, Clelia Molinario, Giulia Rapari, Melania Riccio, Giovanni Cuffaro, Federica Castri, Roberta Benvenuto, Maurizio Genuardi, Daniela Massi, Gustavo Savino
Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid. Genes 14 (11) (2023)
Domizia Pasquetti, Annalisa Gazzellone, Salvatore Rossi, Daniela Orteschi, Federica Francesca L'Erario, Paola Concolino, Angelo Minucci, Carlo Dionisi-Vici, Maurizio Genuardi, Gabriella Silvestri, Pietro Chiurazzi
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability. International journal of molecular sciences 25 (1) (2023)
Francesca Forzano, Olga Antonova, Angus John Clarke, Guido M W R De Wert, Sabine Hentze, Yalda Jamshidi, Yves Moreau, Markus Perola, Inga Prokopenko, Andrew Read, Alexandre Reymond, Vigdis Stefansdottir, Carla G van El, Maurizio Genuardi, null null, null null
Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection'. European journal of human genetics : EJHG (2022)
Francesca Forzano, Olga Antonova, Angus John Clarke, Guido M W R De Wert, Sabine Hentze, Yalda Jamshidi, Yves Moreau, Markus Perola, Inga Prokopenko, Andrew Read, Alexandre Reymond, Vigdis Stefansdottir, Carla G van El, Maurizio Genuardi, null null, null null
Correction to: Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection'. European journal of human genetics : EJHG (2022)
Francesca Forzano, Maurizio Genuardi, Yves Moreau, null null
ESHG warns against misuses of genetic tests and biobanks for discrimination purposes. European journal of human genetics : EJHG 29 (6) (2021)
Francesca Forzano, Olga Antonova, Angus John Clarke, Guido M W R De Wert, Sabine Hentze, Yalda Jamshidi, Yves Moreau, Markus Perola, Inga Prokopenko, Andrew Read, Alexandre Reymond, Vigdis Stefansdottir, Carla G van El, Maurizio Genuardi, null null, null null
The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice. European journal of human genetics : EJHG 30 (5) (2021)
Maria Luisa Di Pietro, Drieda Zace, Alessia Orfino, Francesca Romana Di Raimo, Andrea Poscia, Elisabetta de Matteis, Daniela Turchetti, Lea Godino, Benedetta Bertonazzi, Marzena Franiuk, Carla Bruzzone, Liliana Varesco, Emanuela Lucci-Cordisco, Maurizio Genuardi
Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach. European journal of human genetics : EJHG 29 (2) (2020)
Maria Luisa Di Pietro, Drieda Zace, Alessia Orfino, Francesca Romana Di Raimo, Andrea Poscia, Elisabetta de Matteis, Daniela Turchetti, Lea Godino, Benedetta Bertonazzi, Marzena Franiuk, Carla Bruzzone, Liliana Varesco, Emanuela Lucci-Cordisco, Maurizio Genuardi
Correction: Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach. European journal of human genetics : EJHG (2020)
Alessandro Vaisfeld, Martina Calicchia, Maria Grazia Pomponi, Emanuela Lucci Cordisco, Luca Reggiani Bonetti, Maurizio Genuardi
Lynch syndrome with exclusive skin involvement: time to consider a molecular definition? Familial cancer 18 (4) (2020)
Elisabetta Tabolacci, Maria Grazia Pomponi, Laura Remondini, Roberta Pietrobono, Veronica Nobile, Gaetana Pennacchio, Fiorella Gurrieri, Giovanni Neri, Maurizio Genuardi, Pietro Chiurazzi
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation. European journal of human genetics : EJHG 28 (5) (2019)
Eugenio Sangiorgi, Alessia Azzarà, Clelia Molinario, Roberta Pietrobono, Donato Rigante, Elena Verrecchia, Ludovico Luca Sicignano, Maurizio Genuardi, Fiorella Gurrieri, Raffaele Manna
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. European journal of human genetics : EJHG 27 (9) (2019)
Ingrid P Vogelaar, Rachel S van der Post, J Han Jm van Krieken, Liesbeth Spruijt, Wendy Ag van Zelst-Stams, C Marleen Kets, Jan Lubinski, Anna Jakubowska, Urszula Teodorczyk, Cora M Aalfs, Liselotte P van Hest, Hugo Pinheiro, Carla Oliveira, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, James R Lupski, Joep de Ligt, Lisenka E L M Vissers, Alexander Hoischen, Christian Gilissen, Maartje van de Vorst, Jelle J Goeman, Hans K Schackert, Guglielmina N Ranzani, Valeria Molinaro, Encarna B Gómez García, Frederik J Hes, Elke Holinski-Feder, Maurizio Genuardi, Margreet G E M Ausems, Rolf H Sijmons, Anja Wagner, Lizet E van der Kolk, Inga Bjørnevoll, Hildegunn Høberg-Vetti, Ad Geurts van Kessel, Roland P Kuiper, Marjolijn J L Ligtenberg, Nicoline Hoogerbrugge
Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing. European journal of human genetics : EJHG 25 (11) (2017)
Jayne Y Hehir-Kwa, Mireille Claustres, Ros J Hastings, Conny van Ravenswaaij-Arts, Gabrielle Christenhusz, Maurizio Genuardi, Béla Melegh, Anne Cambon-Thomsen, Philippos Patsalis, Joris Vermeesch, Martina C Cornel, Beverly Searle, Aarno Palotie, Ettore Capoluongo, Borut Peterlin, Xavier Estivill, Peter Nick Robinson
Towards a European consensus for reporting incidental findings during clinical NGS testing. European journal of human genetics : EJHG 23 (12) (2015)