D Carli

Publications (9)

Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing.

Journal of medical genetics

Avec: Diana Carli , Chiara Bertola , Simona Cardaropoli , Valentina Pia Ciuffreda , Marta Pieretto , Giovanni Battista Ferrero , Alessandro Mussa

A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth.

Clinical genetics

Avec: Diana Carli , Giovanni Battista Ferrero , Anna Fusillo , Paola Coppo , Roberta La Selva , Federica Zinali , Simona Cardaropoli , Carlotta Ranieri , Matteo Iacoviello , Nicoletta Resta , Alessandro Mussa

NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations.

Human mutation

Avec: Diana Carli , Elisa Giorgio , Francesca Pantaleoni , Alessandro Bruselles , Sabina Barresi , Evelise Riberi , Francesco Licciardi , Andrea Gazzin , Giuseppina Baldassarre , Simone Pizzi , Marcello Niceta , Francesca C Radio , Cristina Molinatto , Davide Montin , Pier L Calvo , Andrea Ciolfi , Nicole Fleischer , Giovanni B Ferrero , Alfredo Brusco , Marco Tartaglia

Lateralized and Segmental Overgrowth in Children.

Cancers

Avec: Alessandro Mussa , Diana Carli , Simona Cardaropoli , Giovanni Battista Ferrero , Nicoletta Resta

MEK Inhibition in a Newborn with

Genes

Avec: Alessandro Mussa , Diana Carli , Elisa Giorgio , Anna Maria Villar , Simona Cardaropoli , Caterina Carbonara , Maria Francesca Campagnoli , Paolo Galletto , Martina Palumbo , Simone Olivieri , Claudio Isella , Gregor Andelfinger , Marco Tartaglia , Giovanni Botta , Alfredo Brusco , Enzo Medico , Giovanni Battista Ferrero

Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques.

Clinical genetics

Avec: Diana Carli , Matteo Operti , Silvia Russo , Guido Cocchi , Donatella Milani , Chiara Leoni , Elisabetta Prada , Daniela Melis , Mariateresa Falco , Jennifer Spina , Vera Uliana , Osimani Sara , Fabio Sirchia , Luigi Tarani , Marina Macchiaiolo , Flavia Cerrato , Angela Sparago , Laura Pignata , Pierpaola Tannorella , Simona Cardaropoli , Andrea Bartuli , Andrea Riccio , Giovanni Battista Ferrero , Alessandro Mussa

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.

HGG advances

Avec: Slavica Trajkova , Jennifer Kerkhof , Matteo Rossi Sebastiano , Lisa Pavinato , Enza Ferrero , Chiara Giovenino , Diana Carli , Eleonora Di Gregorio , Roberta Marinoni , Giorgia Mandrile , Flavia Palermo , Silvia Carestiato , Simona Cardaropoli , Verdiana Pullano , Antonina Rinninella , Elisa Giorgio , Tommaso Pippucci , Paola Dimartino , Jessica Rzasa , Kathleen Rooney , Haley McConkey , Aleksandar Petlichkovski , Barbara Pasini , Elena Sukarova-Angelovska , Christopher M Campbell , Kay Metcalfe , Sarah Jenkinson , Siddharth Banka , Alessandro Mussa , Giovanni Battista Ferrero , Bekim Sadikovic , Alfredo Brusco

Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib.

Life (Basel, Switzerland)

Avec: Andrea Gazzin , Federico Fornari , Simona Cardaropoli , Diana Carli , Marco Tartaglia , Giovanni Battista Ferrero , Alessandro Mussa

SmithHunter: a workflow for the identification of candidate smithRNAs and their targets.

BMC bioinformatics

Avec: Giovanni Marturano , Diego Carli , Claudio Cucini , Antonio Carapelli , Federico Plazzi , Francesco Frati , Marco Passamonti , Francesco Nardi

Réseau de co-auteurs

Diana Carli 8 collaborations

Simona Cardaropoli 7 collaborations

Giovanni Battista Ferrero 7 collaborations

Alessandro Mussa 7 collaborations

Elisa Giorgio 3 collaborations

Alfredo Brusco 3 collaborations

Marco Tartaglia 3 collaborations

Nicoletta Resta 2 collaborations

Andrea Gazzin 2 collaborations

Chiara Bertola 1 collaboration

Valentina Pia Ciuffreda 1 collaboration

Marta Pieretto 1 collaboration

Anna Fusillo 1 collaboration

Paola Coppo 1 collaboration

Roberta La Selva 1 collaboration

Federica Zinali 1 collaboration

Carlotta Ranieri 1 collaboration

Matteo Iacoviello 1 collaboration

Francesca Pantaleoni 1 collaboration

Alessandro Bruselles 1 collaboration

Sabina Barresi 1 collaboration

Evelise Riberi 1 collaboration

Francesco Licciardi 1 collaboration

Giuseppina Baldassarre 1 collaboration

Simone Pizzi 1 collaboration

Marcello Niceta 1 collaboration

Francesca C Radio 1 collaboration

Cristina Molinatto 1 collaboration

Davide Montin 1 collaboration

Pier L Calvo 1 collaboration

Andrea Ciolfi 1 collaboration

Nicole Fleischer 1 collaboration

Giovanni B Ferrero 1 collaboration

Anna Maria Villar 1 collaboration

Caterina Carbonara 1 collaboration

Maria Francesca Campagnoli 1 collaboration

Paolo Galletto 1 collaboration

Martina Palumbo 1 collaboration

Simone Olivieri 1 collaboration

Claudio Isella 1 collaboration

Gregor Andelfinger 1 collaboration

Giovanni Botta 1 collaboration

Enzo Medico 1 collaboration

Matteo Operti 1 collaboration

Silvia Russo 1 collaboration

Guido Cocchi 1 collaboration

Donatella Milani 1 collaboration

Chiara Leoni 1 collaboration

Elisabetta Prada 1 collaboration

Daniela Melis 1 collaboration

Mariateresa Falco 1 collaboration

Jennifer Spina 1 collaboration

Vera Uliana 1 collaboration

Osimani Sara 1 collaboration

Fabio Sirchia 1 collaboration

Luigi Tarani 1 collaboration

Marina Macchiaiolo 1 collaboration

Flavia Cerrato 1 collaboration

Angela Sparago 1 collaboration

Laura Pignata 1 collaboration

Pierpaola Tannorella 1 collaboration

Andrea Bartuli 1 collaboration

Andrea Riccio 1 collaboration

Slavica Trajkova 1 collaboration

Jennifer Kerkhof 1 collaboration

Matteo Rossi Sebastiano 1 collaboration

Lisa Pavinato 1 collaboration

Enza Ferrero 1 collaboration

Chiara Giovenino 1 collaboration

Eleonora Di Gregorio 1 collaboration

Roberta Marinoni 1 collaboration

Giorgia Mandrile 1 collaboration

Flavia Palermo 1 collaboration

Silvia Carestiato 1 collaboration

Verdiana Pullano 1 collaboration

Antonina Rinninella 1 collaboration

Tommaso Pippucci 1 collaboration

Paola Dimartino 1 collaboration

Jessica Rzasa 1 collaboration

Kathleen Rooney 1 collaboration

Haley McConkey 1 collaboration

Aleksandar Petlichkovski 1 collaboration

Barbara Pasini 1 collaboration

Elena Sukarova-Angelovska 1 collaboration

Christopher M Campbell 1 collaboration

Kay Metcalfe 1 collaboration

Sarah Jenkinson 1 collaboration

Siddharth Banka 1 collaboration

Bekim Sadikovic 1 collaboration

Federico Fornari 1 collaboration

Giovanni Marturano 1 collaboration

Diego Carli 1 collaboration

Claudio Cucini 1 collaboration

Antonio Carapelli 1 collaboration

Federico Plazzi 1 collaboration

Francesco Frati 1 collaboration

Marco Passamonti 1 collaboration

Francesco Nardi 1 collaboration