Viviana Cordeddu

Affiliations

National Center for Drug Research and Evaluation, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.

Publications (15)

Gene Therapy in Retinal Dystrophies.

International journal of molecular sciences

Avec: Lucia Ziccardi , Viviana Cordeddu , Lucia Gaddini , Andrea Matteucci , Mariacristina Parravano , Fiorella Malchiodi-Albedi , Monica Varano

Copy number variants in autism spectrum disorders.

Progress in neuro-psychopharmacology & biological psychiatry

Avec: Stefano Vicari , Eleonora Napoli , Viviana Cordeddu , Deny Menghini , Viola Alesi , Sara Loddo , Antonio Novelli , Marco Tartaglia

Natural history of MRAS-related Noonan syndrome: Evidence of mild adult-onset left ventricular hypertrophy and neuropsychiatric features.

American journal of medical genetics. Part C, Seminars in medical genetics

Avec: Manuela Priolo , Cecilia Mancini , Francesca Clementina Radio , Luigi Chiriatti , Andrea Ciolfi , Camilla Cappelletti , Viviana Cordeddu , Letizia Pintomalli , Alfredo Brusco , Corrado Mammi , Marco Tartaglia

Primrose syndrome: Characterization of the phenotype in 42 patients.

Clinical genetics

Avec: Daniela Melis , Daniel Carvalho , Tina Barbaro-Dieber , Alberto J Espay , Michael J Gambello , Blanca Gener , Erica Gerkes , Marrit M Hitzert , Hanne B Hove , Sandra Jansen , Petr E Jira , Katherine Lachlan , Leonie A Menke , Vinodh Narayanan , Damara Ortiz , Eline Overwater , Renata Posmyk , Keri Ramsey , Alessandro Rossi , Renata Lazari Sandoval , Constance Stumpel , Kyra E Stuurman , Viviana Cordeddu , Peter Turnpenny , Pietro Strisciuglio , Marco Tartaglia , Sheela Unger , Todd Waters , Clare Turnbull , Raoul C Hennekam

Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.

Clinical genetics

Avec: Viviana Cordeddu , Erica L Macke , Francesca Clementina Radio , Stefania Lo Cicero , Francesca Pantaleoni , Massimo Tatti , Emanuele Bellacchio , Andrea Ciolfi , Emanuele Agolini , Alessandro Bruselles , Nicola Brunetti-Pierri , Mohnish Suri , Katherine S Josephs , Meriel McEntagart , Brendan Lanpher , Katherine C Nickels , Andrea Haworth , Laura Reed , Gerarda Cappuccio , Isabella Mammi , Jessica M Tarnowski , Antonio Novelli , Auteur inconnu , Daniela Melis , Bert Callewaert , Bruno Dallapiccola , Eric Klee , Marco Tartaglia

Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism.

Parkinsonism & related disorders

Avec: Simone Martinelli , Viviana Cordeddu , Serena Galosi , Ambra Lanzo , Eleonora Palma , Luca Pannone , Andrea Ciolfi , Michela Di Nottia , Teresa Rizza , Gianfranco Bocchinfuso , Alice Traversa , Viviana Caputo , Andrea Farrotti , Claudia Carducci , Laura Bernardini , Susanna Cogo , Maria Paglione , Martina Venditti , Annarita Bentivoglio , Joanne Ng , Manju A Kurian , Laura Civiero , Elisa Greggio , Lorenzo Stella , Flavia Trettel , Miriam Sciaccaluga , Cristina Roseti , Rosalba Carrozzo , Sergio Fucile , Cristina Limatola , Elia Di Schiavi , Marco Tartaglia , Vincenzo Leuzzi

SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.

American journal of human genetics

Avec: Katherine A Wood , R Spencer Tong , Marialetizia Motta , Viviana Cordeddu , Eleanor R Scimone , Stephen J Bush , Dale W Maxwell , Eleni Giannoulatou , Viviana Caputo , Alice Traversa , Cecilia Mancini , Giovanni B Ferrero , Francesco Benedicenti , Paola Grammatico , Daniela Melis , Katharina Steindl , Nicola Brunetti-Pierri , Eva Trevisson , Andrew Om Wilkie , Angela E Lin , Valerie Cormier-Daire , Stephen Rf Twigg , Marco Tartaglia , Anne Goriely

Biallelic Inactivating

International journal of molecular sciences

Avec: Lucia Ziccardi , Marcello Niceta , Emilia Stellacci , Andrea Ciolfi , Massimo Tatti , Alessandro Bruselles , Cecilia Mancini , Lucilla Barbano , Serena Cecchetti , Eliana Costanzo , Marco Cappa , Mariacristina Parravano , Monica Varano , Marco Tartaglia , Viviana Cordeddu

Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.

European journal of human genetics : EJHG

Avec: Manuela Priolo , Erika Zara , Francesca Clementina Radio , Andrea Ciolfi , Francesca Spadaro , Emanuele Bellacchio , Cecilia Mancini , Francesca Pantaleoni , Viviana Cordeddu , Luigi Chiriatti , Marcello Niceta , Emilio Africa , Corrado Mammì , Daniela Melis , Simona Coppola , Marco Tartaglia

Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency.

International journal of molecular sciences

Avec: 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 , Marco Tartaglia , Graziano Pesole , Nicoletta Resta

Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.

Human molecular genetics

Avec: Marialetizia Motta , Maja Solman , Adeline A Bonnard , Alma Kuechler , Francesca Pantaleoni , Manuela Priolo , Balasubramanian Chandramouli , Simona Coppola , Simone Pizzi , Erika Zara , Marco Ferilli , Hülya Kayserili , Roberta Onesimo , Chiara Leoni , Julia Brinkmann , Yoann Vial , Susanne B Kamphausen , Cécile Thomas-Teinturier , Anne Guimier , Viviana Cordeddu , Laura Mazzanti , Giuseppe Zampino , Giovanni Chillemi , Martin Zenker , Hélène Cavé , Jeroen den Hertog , Marco Tartaglia

Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants.

Genes

Avec: Manuela Priolo , Cecilia Mancini , Simone Pizzi , Luigi Chiriatti , Francesca Clementina Radio , Viviana Cordeddu , Letizia Pintomalli , Corrado Mammì , Bruno Dallapiccola , Marco Tartaglia

Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.

American journal of human genetics

Avec: Melanie Brugger , Antonella Lauri , Yan Zhen , Laura L Gramegna , Benedikt Zott , Nikolina Sekulić , Giulia Fasano , Robert Kopajtich , Viviana Cordeddu , Francesca Clementina Radio , Cecilia Mancini , Simone Pizzi , Graziamaria Paradisi , Ginevra Zanni , Gessica Vasco , Rosalba Carrozzo , Flavia Palombo , Caterina Tonon , Raffaele Lodi , Chiara La Morgia , Maria Arelin , Cristiane Blechschmidt , Tom Finck , Vigdis Sørensen , Kornelia Kreiser , Gertrud Strobl-Wildemann , Hagit Daum , Rachel Michaelson-Cohen , Lucia Ziccardi , Giuseppe Zampino , Holger Prokisch , Rami Abou Jamra , Claudio Fiorini , Thomas Arzberger , Juliane Winkelmann , Leonardo Caporali , Valerio Carelli , Harald Stenmark , Marco Tartaglia , Matias Wagner

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.

European journal of human genetics : EJHG

Avec: Maria Lisa Dentici , Marcello Niceta , Francesca Romana Lepri , Cecilia Mancini , Manuela Priolo , Adeline Alice Bonnard , Camilla Cappelletti , Chiara Leoni , Andrea Ciolfi , Simone Pizzi , Viviana Cordeddu , Cesare Rossi , Marco Ferilli , Mafalda Mucciolo , Vito Luigi Colona , Christine Fauth , Melissa Bellini , Giacomo Biasucci , Lorenzo Sinibaldi , Silvana Briuglia , Andrea Gazzin , Diana Carli , Luigi Memo , Eva Trevisson , Concetta Schiavariello , Maria Luca , Antonio Novelli , Caroline Michot , Anne Sweertvaegher , David Germanaud , Emanuela Scarano , Alessandro De Luca , Giuseppe Zampino , Martin Zenker , Alessandro Mussa , Bruno Dallapiccola , Helene Cavé , Maria Cristina Digilio , Marco Tartaglia

Whole Genome Sequencing Solves an Atypical Form of Bardet-Biedl Syndrome: Identification of Novel Pathogenic Variants of

International journal of molecular sciences

Avec: Emilia Stellacci , Marcello Niceta , Alessandro Bruselles , Emilio Straface , Massimo Tatti , Mattia Carvetta , Cecilia Mancini , Serena Cecchetti , Mariacristina Parravano , Lucilla Barbano , Monica Varano , Marco Tartaglia , Lucia Ziccardi , Viviana Cordeddu

Réseau de co-auteurs

Marco Tartaglia 14 collaborations

Cecilia Mancini 9 collaborations

Francesca Clementina Radio 6 collaborations

Andrea Ciolfi 6 collaborations

Manuela Priolo 5 collaborations

Lucia Ziccardi 4 collaborations

Daniela Melis 4 collaborations

Alessandro Bruselles 4 collaborations

Marcello Niceta 4 collaborations

Simone Pizzi 4 collaborations

Mariacristina Parravano 3 collaborations

Monica Varano 3 collaborations

Antonio Novelli 3 collaborations

Luigi Chiriatti 3 collaborations

Francesca Pantaleoni 3 collaborations

Massimo Tatti 3 collaborations

Bruno Dallapiccola 3 collaborations

Giuseppe Zampino 3 collaborations

Camilla Cappelletti 2 collaborations

Letizia Pintomalli 2 collaborations

Emanuele Bellacchio 2 collaborations

Nicola Brunetti-Pierri 2 collaborations

Alice Traversa 2 collaborations

Viviana Caputo 2 collaborations

Rosalba Carrozzo 2 collaborations

Marialetizia Motta 2 collaborations

Eva Trevisson 2 collaborations

Emilia Stellacci 2 collaborations

Lucilla Barbano 2 collaborations

Serena Cecchetti 2 collaborations

Erika Zara 2 collaborations

Corrado Mammì 2 collaborations

Simona Coppola 2 collaborations

Marco Ferilli 2 collaborations

Chiara Leoni 2 collaborations

Martin Zenker 2 collaborations

Lucia Gaddini 1 collaboration

Andrea Matteucci 1 collaboration

Fiorella Malchiodi-Albedi 1 collaboration

Stefano Vicari 1 collaboration

Eleonora Napoli 1 collaboration

Deny Menghini 1 collaboration

Viola Alesi 1 collaboration

Sara Loddo 1 collaboration

Alfredo Brusco 1 collaboration

Corrado Mammi 1 collaboration

Daniel Carvalho 1 collaboration

Tina Barbaro-Dieber 1 collaboration

Alberto J Espay 1 collaboration

Michael J Gambello 1 collaboration

Blanca Gener 1 collaboration

Erica Gerkes 1 collaboration

Marrit M Hitzert 1 collaboration

Hanne B Hove 1 collaboration

Sandra Jansen 1 collaboration

Petr E Jira 1 collaboration

Katherine Lachlan 1 collaboration

Leonie A Menke 1 collaboration

Vinodh Narayanan 1 collaboration

Damara Ortiz 1 collaboration

Eline Overwater 1 collaboration

Renata Posmyk 1 collaboration

Keri Ramsey 1 collaboration

Alessandro Rossi 1 collaboration

Renata Lazari Sandoval 1 collaboration

Constance Stumpel 1 collaboration

Kyra E Stuurman 1 collaboration

Peter Turnpenny 1 collaboration

Pietro Strisciuglio 1 collaboration

Sheela Unger 1 collaboration

Todd Waters 1 collaboration

Clare Turnbull 1 collaboration

Raoul C Hennekam 1 collaboration

Erica L Macke 1 collaboration

Stefania Lo Cicero 1 collaboration

Emanuele Agolini 1 collaboration

Mohnish Suri 1 collaboration

Katherine S Josephs 1 collaboration

Meriel McEntagart 1 collaboration

Brendan Lanpher 1 collaboration

Katherine C Nickels 1 collaboration

Andrea Haworth 1 collaboration

Laura Reed 1 collaboration

Gerarda Cappuccio 1 collaboration

Isabella Mammi 1 collaboration

Jessica M Tarnowski 1 collaboration

None None 1 collaboration

Bert Callewaert 1 collaboration

Eric Klee 1 collaboration

Simone Martinelli 1 collaboration

Serena Galosi 1 collaboration

Ambra Lanzo 1 collaboration

Eleonora Palma 1 collaboration

Luca Pannone 1 collaboration

Michela Di Nottia 1 collaboration

Teresa Rizza 1 collaboration

Gianfranco Bocchinfuso 1 collaboration

Andrea Farrotti 1 collaboration

Claudia Carducci 1 collaboration

Laura Bernardini 1 collaboration

Susanna Cogo 1 collaboration

Maria Paglione 1 collaboration

Martina Venditti 1 collaboration

Annarita Bentivoglio 1 collaboration

Joanne Ng 1 collaboration

Manju A Kurian 1 collaboration

Laura Civiero 1 collaboration

Elisa Greggio 1 collaboration

Lorenzo Stella 1 collaboration

Flavia Trettel 1 collaboration

Miriam Sciaccaluga 1 collaboration

Cristina Roseti 1 collaboration

Sergio Fucile 1 collaboration

Cristina Limatola 1 collaboration

Elia Di Schiavi 1 collaboration

Vincenzo Leuzzi 1 collaboration

Katherine A Wood 1 collaboration

R Spencer Tong 1 collaboration

Eleanor R Scimone 1 collaboration

Stephen J Bush 1 collaboration

Dale W Maxwell 1 collaboration

Eleni Giannoulatou 1 collaboration

Giovanni B Ferrero 1 collaboration

Francesco Benedicenti 1 collaboration

Paola Grammatico 1 collaboration

Katharina Steindl 1 collaboration

Andrew Om Wilkie 1 collaboration

Angela E Lin 1 collaboration

Valerie Cormier-Daire 1 collaboration

Stephen Rf Twigg 1 collaboration

Anne Goriely 1 collaboration

Eliana Costanzo 1 collaboration

Marco Cappa 1 collaboration

Francesca Spadaro 1 collaboration

Emilio Africa 1 collaboration

Stefania Martino 1 collaboration

Pietro D'Addabbo 1 collaboration

Antonella Turchiano 1 collaboration

Alessandro Stella 1 collaboration

Nicola Laforgia 1 collaboration

Donatella Capodiferro 1 collaboration

Simonetta Simonetti 1 collaboration

Rosanna Bagnulo 1 collaboration

Orazio Palumbo 1 collaboration

Flaviana Marzano 1 collaboration

Ornella Tabaku 1 collaboration

Antonella Garganese 1 collaboration

Michele Stasi 1 collaboration

Graziano Pesole 1 collaboration

Nicoletta Resta 1 collaboration

Maja Solman 1 collaboration

Adeline A Bonnard 1 collaboration

Alma Kuechler 1 collaboration

Balasubramanian Chandramouli 1 collaboration

Hülya Kayserili 1 collaboration

Roberta Onesimo 1 collaboration

Julia Brinkmann 1 collaboration

Yoann Vial 1 collaboration

Susanne B Kamphausen 1 collaboration

Cécile Thomas-Teinturier 1 collaboration

Anne Guimier 1 collaboration

Laura Mazzanti 1 collaboration

Giovanni Chillemi 1 collaboration

Hélène Cavé 1 collaboration

Jeroen den Hertog 1 collaboration

Melanie Brugger 1 collaboration

Antonella Lauri 1 collaboration

Yan Zhen 1 collaboration

Laura L Gramegna 1 collaboration

Benedikt Zott 1 collaboration

Nikolina Sekulić 1 collaboration

Giulia Fasano 1 collaboration

Robert Kopajtich 1 collaboration

Graziamaria Paradisi 1 collaboration

Ginevra Zanni 1 collaboration

Gessica Vasco 1 collaboration

Flavia Palombo 1 collaboration

Caterina Tonon 1 collaboration

Raffaele Lodi 1 collaboration

Chiara La Morgia 1 collaboration

Maria Arelin 1 collaboration

Cristiane Blechschmidt 1 collaboration

Tom Finck 1 collaboration

Vigdis Sørensen 1 collaboration

Kornelia Kreiser 1 collaboration

Gertrud Strobl-Wildemann 1 collaboration

Hagit Daum 1 collaboration

Rachel Michaelson-Cohen 1 collaboration

Holger Prokisch 1 collaboration

Rami Abou Jamra 1 collaboration

Claudio Fiorini 1 collaboration

Thomas Arzberger 1 collaboration

Juliane Winkelmann 1 collaboration

Leonardo Caporali 1 collaboration

Valerio Carelli 1 collaboration

Harald Stenmark 1 collaboration

Matias Wagner 1 collaboration

Maria Lisa Dentici 1 collaboration

Francesca Romana Lepri 1 collaboration

Adeline Alice Bonnard 1 collaboration

Cesare Rossi 1 collaboration

Mafalda Mucciolo 1 collaboration

Vito Luigi Colona 1 collaboration

Christine Fauth 1 collaboration

Melissa Bellini 1 collaboration

Giacomo Biasucci 1 collaboration

Lorenzo Sinibaldi 1 collaboration

Silvana Briuglia 1 collaboration

Andrea Gazzin 1 collaboration

Diana Carli 1 collaboration

Luigi Memo 1 collaboration

Concetta Schiavariello 1 collaboration

Maria Luca 1 collaboration

Caroline Michot 1 collaboration

Anne Sweertvaegher 1 collaboration

David Germanaud 1 collaboration

Emanuela Scarano 1 collaboration

Alessandro De Luca 1 collaboration

Alessandro Mussa 1 collaboration

Helene Cavé 1 collaboration

Maria Cristina Digilio 1 collaboration

Emilio Straface 1 collaboration

Mattia Carvetta 1 collaboration