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ArticlesPeer ReviewedFull Text
Correction: ESHG warns against misuses of genetic tests and biobanks for discrimination purposes
Author / Creator:Forzano, Francesca ; Genuardi, Maurizio ; Moreau, Yves
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-02, Vol.29 (6), p.1036-1036
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The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice
Author / Creator:Forzano, Francesca ; Antonova, Olga ; Clarke, Angus ; de Wert, Guido ; Hentze, Sabine ; Jamshidi, Yalda ; Moreau, Yves ; Perola, Markus ; Prokopenko, Inga ; Read, Andrew ; Reymond, Alexandre ; Stefansdottir, Vigdis ; van El, Carla ; Genuardi, Maurizio ; Peterlin, Borut ; Oliveira, Carla ; Writzl, Karin ; Houge, Gunnar Douzgos ; Cordier, Christophe ; Howard, Heidi ; Macek, Milan ; Melegh, Béla ; Mendes, Alvaro ; Radojkovic, Dragica ; Rial-Sebbag, Emmanuelle ; Ulph, Fiona
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2022-05, Vol.30 (5), p.493-495
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Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome
Author / Creator:Sangiorgi, Eugenio ; Azzarà, Alessia ; Molinario, Clelia ; Pietrobono, Roberta ; Rigante, Donato ; Verrecchia, Elena ; Sicignano, Ludovico Luca ; Genuardi, Maurizio ; Gurrieri, Fiorella ; Manna, Raffaele
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2019-09, Vol.27 (9), p.1361-1368
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Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant ca...
Author / Creator:Blatter, Robert ; Tschupp, Benjamin ; Aretz, Stefan ; Bernstein, Inge ; Colas, Chrystelle ; Evans, D. Gareth ; Genuardi, Maurizio ; Hes, Frederik J. ; Hüneburg, Robert ; Järvinen, Heikki ; Lalloo, Fiona ; Moeslein, Gabriela ; Renkonen-Sinisalo, Laura ; Resta, Nicoletta ; Spier, Isabel ; Varvara, Dora ; Vasen, Hans ; Latchford, Andrew R. ; Heinimann, Karl
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2020-09, Vol.22 (9), p.1524-1532
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Correction: The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice
Author / Creator:Forzano, Francesca ; Antonova, Olga ; Clarke, Angus ; de Wert, Guido ; Hentze, Sabine ; Jamshidi, Yalda ; Moreau, Yves ; Perola, Markus ; Prokopenko, Inga ; Read, Andrew ; Reymond, Alexandre ; Stefansdottir, Vigdis ; van El, Carla ; Genuardi, Maurizio ; Maurizio, Genuardi ; Peterlin, Borut ; Oliveira, Carla ; Writzl, Karin ; Houge, Gunnar Douzgos ; Cordier, Christophe ; de Wert, Guido ; Howard, Heidi ; Macek, Milan ; Melegh, Béla ; Mendes, Alvaro ; Radojkovic, Dragica ; Rial-Sebbag, Emmanuelle ; Stefánsdottir, Vigdis ; Ulph, Fiona ; van El, Carla
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2022-05, Vol.30 (5), p.628-628
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Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation
Author / Creator:Tabolacci, Elisabetta ; Pomponi, Maria Grazia ; Remondini, Laura ; Pietrobono, Roberta ; Nobile, Veronica ; Pennacchio, Gaetana ; Gurrieri, Fiorella ; Neri, Giovanni ; Genuardi, Maurizio ; Chiurazzi, Pietro
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2020-05, Vol.28 (5), p.567-575
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Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene
Author / Creator:Nobile, Veronica ; Palumbo, Federica ; Lanni, Stella ; Ghisio, Valentina ; Vitali, Alberto ; Castagnola, Massimo ; Marzano, Valeria ; Maulucci, Giuseppe ; De Angelis, Claudio ; De Spirito, Marco ; Pacini, Laura ; D’Andrea, Laura ; Ragno, Rino ; Stazi, Giulia ; Valente, Sergio ; Mai, Antonello ; Chiurazzi, Pietro ; Genuardi, Maurizio ; Neri, Giovanni ; Tabolacci, Elisabetta
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2020-02, Vol.139 (2), p.227-245
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Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach
Author / Creator:Di Pietro, Maria Luisa ; Zaçe, Drieda ; Orfino, Alessia ; Di Raimo, Francesca Romana ; Poscia, Andrea ; de Matteis, Elisabetta ; Turchetti, Daniela ; Godino, Lea ; Bertonazzi, Benedetta ; Franiuk, Marzena ; Bruzzone, Carla ; Varesco, Liliana ; Lucci-Cordisco, Emanuela ; Genuardi, Maurizio
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-02, Vol.29 (2), p.250-261
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ArticlesPeer ReviewedFull Text
Cost-effectiveness analysis of genetic diagnostic strategies for Lynch syndrome in Italy
Author / Creator:Pastorino, Roberta ; Basile, Michele ; Tognetto, Alessia ; Di Marco, Marco ; Grossi, Adriano ; Lucci-Cordisco, Emanuela ; Scaldaferri, Franco ; De Censi, Andrea ; Federici, Antonio ; Villari, Paolo ; Genuardi, Maurizio ; Ricciardi, Walter ; Boccia, Stefania
Publisher:San Francisco: Public Library of Science
Journal title:PloS one, 2020-07, Vol.15 (7), p.e0235038-e0235038
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ArticlesPeer ReviewedFull Text
Clinical utility gene card for: MUTYH-associated polyposis (MAP), Autosomal recessive colorectal adenomatous polyposis, Multiple colorectal adenomas, Multiple adenomatous polyps (MAP) - update 2012
Author / Creator:Aretz, Stefan ; Genuardi, Maurizio ; Hes, Frederik J
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2013-01, Vol.21 (1), p.118-118
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Correction to: Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’
Author / Creator:Forzano, Francesca ; Antonova, Olga ; Clarke, Angus ; de Wert, Guido ; Hentze, Sabine ; Jamshidi, Yalda ; Moreau, Yves ; Perola, Markus ; Prokopenko, Inga ; Read, Andrew ; Reymond, Alexandre ; Stefansdottir, Vigdis ; van El, Carla ; Genuardi, Maurizio ; Genuardi, Maurizio ; Peterlin, Borut ; Oliveira, Carla ; Writzl, Karin ; Houge, Gunnar Douzgos ; Cordier, Christophe ; Howard, Heidi ; Macek, Milan ; Melegh, Béla ; Mendes, Alvaro ; Radojkovic, Dragica ; Rial-Sebbag, Emmanuelle ; Ulph, Fiona
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2022-12, Vol.31 (3), p.368-368
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ArticlesPeer ReviewedFull Text
Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’
Author / Creator:Forzano, Francesca ; Antonova, Olga ; Clarke, Angus ; de Wert, Guido ; Hentze, Sabine ; Jamshidi, Yalda ; Moreau, Yves ; Perola, Markus ; Prokopenko, Inga ; Read, Andrew ; Reymond, Alexandre ; Stefansdottir, Vigdis ; van El, Carla ; Genuardi, Maurizio ; Genuardi, Maurizio ; Peterlin, Borut ; Oliveira, Carla ; Writzl, Karin ; Houge, Gunnar Douzgos ; Cordier, Christophe ; Howard, Heidi ; Macek, Milan ; Melegh, Béla ; Mendes, Alvaro ; Radojkovic, Dragica ; Rial-Sebbag, Emmanuelle ; Ulph, Fiona
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2023-03, Vol.31 (3), p.279-281
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Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant
Author / Creator:Borghesi, Alessandro ; Mencarelli, Maria Antonietta ; Memo, Luigi ; Ferrero, Giovanni Battista ; Bartuli, Andrea ; Genuardi, Maurizio ; Stronati, Mauro ; Villani, Alberto ; Renieri, Alessandra ; Corsello, Giovanni
Publisher:England: BioMed Central
Journal title:Italian journal of pediatrics, 2017-11, Vol.43 (1), p.100-100, Article 100
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Correction: Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach
Author / Creator:Di Pietro, Maria Luisa ; Zaçe, Drieda ; Orfino, Alessia ; Di Raimo, Francesca Romana ; Poscia, Andrea ; de Matteis, Elisabetta ; Turchetti, Daniela ; Godino, Lea ; Bertonazzi, Benedetta ; Franiuk, Marzena ; Bruzzone, Carla ; Varesco, Liliana ; Lucci-Cordisco, Emanuela ; Genuardi, Maurizio
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-02, Vol.29 (2), p.362-362
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DNA Methylation in the Diagnosis of Monogenic Diseases
Author / Creator:Cerrato, Flavia ; Sparago, Angela ; Ariani, Francesca ; Brugnoletti, Fulvia ; Calzari, Luciano ; Coppedè, Fabio ; De Luca, Alessandro ; Gervasini, Cristina ; Giardina, Emiliano ; Gurrieri, Fiorella ; Lo Nigro, Cristiana ; Merla, Giuseppe ; Miozzo, Monica ; Russo, Silvia ; Sangiorgi, Eugenio ; Sirchia, Silvia M ; Squeo, Gabriella Maria ; Tabano, Silvia ; Tabolacci, Elisabetta ; Torrente, Isabella ; Genuardi, Maurizio ; Neri, Giovanni ; Riccio, Andrea
Publisher:Switzerland: MDPI
Journal title:Genes, 2020-03, Vol.11 (4), p.355
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3q29 microduplication syndrome: New evidence for the refinement of the critical region
Author / Creator:Bauleo, Alessia ; Pace, Vincenza ; Montesanto, Alberto ; De Stefano, Laura ; Brando, Rossella ; Puntorieri, Domenica ; Cento, Luca ; Genuardi, Maurizio ; Falcone, Elena
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2023-04, Vol.11 (4), p.e2130-n/a
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A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report
Author / Creator:Grippaudo, Cristina ; Cafiero, Concetta ; D’Apolito, Isabella ; Re, Agnese ; Genuardi, Maurizio ; Chiurazzi, Pietro ; Frazier-Bowers, Sylvia A.
Publisher:England: BioMed Central Ltd
Journal title:BMC oral health, 2019-11, Vol.19 (1), p.249-249, Article 249
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Workload measurement for molecular genetics laboratory: A survey study
Author / Creator:Tagliafico, Enrico ; Bernardis, Isabella ; Grasso, Marina ; D’Apice, Maria Rosaria ; Lapucci, Cristina ; Botta, Annalisa ; Giachino, Daniela Francesca ; Marinelli, Maria ; Primignani, Paola ; Russo, Silvia ; Sani, Ilaria ; Seia, Manuela ; Fini, Sergio ; Rimessi, Paola ; Tenedini, Elena ; Ravani, Anna ; Genuardi, Maurizio ; Ferlini, Alessandra
Publisher:United States: Public Library of Science
Journal title:PloS one, 2018-11, Vol.13 (11), p.e0206855-e0206855
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The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use
Author / Creator:D’ippolito, Silvia ; Di Simone, Nicoletta ; Orteschi, Daniela ; Pomponi, Maria Grazia ; Genuardi, Maurizio ; Sisti, Leuconoe Grazia ; Castellani, Roberta ; Rossi, Esther Diana ; Scambia, Giovanni ; Zollino, Marcella
Publisher:United States: Public Library of Science
Journal title:PloS one, 2017-06, Vol.12 (6), p.e0178113-e0178113
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Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report
Author / Creator:Novelli, Valeria ; Bisignani, Antonio ; Pelargonio, Gemma ; Primiano, Guido ; Narducci, Maria Lucia ; Palmieri, Vincenzo ; Tiziano, Francesco Danilo ; Zeppilli, Paolo ; Servidei, Serenella ; Crea, Filippo ; Genuardi, Maurizio
Publisher:England: BioMed Central Ltd
Journal title:BMC cardiovascular disorders, 2020-04, Vol.20 (1), p.156-5, Article 156
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Correction: ESHG warns against misuses of genetic tests and biobanks for discrimination purposes

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The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice

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Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome

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Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant ca...

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Correction: The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice

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Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation

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Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene

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Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach

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Cost-effectiveness analysis of genetic diagnostic strategies for Lynch syndrome in Italy

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Clinical utility gene card for: MUTYH-associated polyposis (MAP), Autosomal recessive colorectal adenomatous polyposis, Multiple colorectal adenomas, Multiple adenomatous polyps (MAP) - update 2012

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Correction to: Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’

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Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’

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Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant

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Correction: Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach

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DNA Methylation in the Diagnosis of Monogenic Diseases

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3q29 microduplication syndrome: New evidence for the refinement of the critical region

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A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report

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Workload measurement for molecular genetics laboratory: A survey study

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The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use

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Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report

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