Sandra Cardaropoli

Publications (23)

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.

Nature genetics

Avec: Jack M Fu , F Kyle Satterstrom , Minshi Peng , Harrison Brand , Ryan L Collins , Shan Dong , Brie Wamsley , Lambertus Klei , Lily Wang , Stephanie P Hao , Christine R Stevens , Caroline Cusick , Mehrtash Babadi , Eric Banks , Brett Collins , Sheila Dodge , Stacey B Gabriel , Laura Gauthier , Samuel K Lee , Lindsay Liang , Alicia Ljungdahl , Behrang Mahjani , Laura Sloofman , Andrey N Smirnov , Mafalda Barbosa , Catalina Betancur , Alfredo Brusco , Brian H Y Chung , Edwin H Cook , Michael L Cuccaro , Enrico Domenici , Giovanni Battista Ferrero , J Jay Gargus , Gail E Herman , Irva Hertz-Picciotto , Patricia Maciel , Dara S Manoach , Maria Rita Passos-Bueno , Antonio M Persico , Alessandra Renieri , James S Sutcliffe , Flora Tassone , Elisabetta Trabetti , Gabriele Campos , Simona Cardaropoli , Diana Carli , Marcus C Y Chan , Chiara Fallerini , Elisa Giorgio , Ana Cristina Girardi , Emily Hansen-Kiss , So Lun Lee , Carla Lintas , Yunin Ludena , Rachel Nguyen , Lisa Pavinato , Margaret Pericak-Vance , Isaac N Pessah , Rebecca J Schmidt , Moyra Smith , Claudia I S Costa , Slavica Trajkova , Jaqueline Y T Wang , Mullin H C Yu , Auteur inconnu , Auteur inconnu , Auteur inconnu , David J Cutler , Silvia De Rubeis , Joseph D Buxbaum , Mark J Daly , Bernie Devlin , Kathryn Roeder , Stephan J Sanders , Michael E Talkowski

Molecular Basis and Diagnostic Approach to Isolated and Syndromic Lateralized Overgrowth in Childhood.

The Journal of pediatrics

Avec: Simone Bellucca , Diana Carli , Andrea Gazzin , Stefania Massuras , Simona Cardaropoli , Maria Luca , Paola Coppo , Mirko Caprioglio , Roberta La Selva , Marilidia Piglionica , Piera Bontempo , Gemma D'Elia , Rosanna Bagnulo , Giovanni Battista Ferrero , Nicoletta Resta , Alessandro Mussa

Evolution over Time of Leg Length Discrepancy in Patients with Syndromic and Isolated Lateralized Overgrowth.

The Journal of pediatrics

Avec: Diana Carli , Maurizio De Pellegrin , Luisa Franceschi , Federica Zinali , Matteo Paonessa , Simone Spolaore , Simona Cardaropoli , Mattia Cravino , Lorenzo Marcucci , Antonio Andreacchio , Nicoletta Resta , Giovanni Battista Ferrero , Alessandro Mussa

Pregnant Women's Experiences of Seeking Treatment for Opioid Use.

MCN. The American journal of maternal child nursing

Avec: Kimberly Dion , Sandra Cardaropoli , Ria Deshpande , Jennifer Kovarik

The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth.

Genes, chromosomes & cancer

Avec: Maria Luca , Marilidia Piglionica , Rosanna Bagnulo , Simona Cardaropoli , Diana Carli , Antonella Turchiano , Paola Coppo , Antonino Pantaleo , Matteo Iacoviello , Giovanni Battista Ferrero , Alessandro Mussa , Nicoletta Resta

Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome.

American journal of medical genetics. Part A

Avec: Andrea Gazzin , Diana Carli , Fabio Sirchia , Cristina Molinatto , Simona Cardaropoli , Giuseppe Palumbo , Giuseppe Zampino , Giovanni Battista Ferrero , Alessandro Mussa

Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA-related overgrowth spectrum.

Clinical genetics

Avec: Diana Carli , Silvia Kalantari , Rosaria Manicone , Paola Coppo , Paola Francia di Celle , Roberta La Selva , Federica Santoro , Carlotta Ranieri , Simona Cardaropoli , Franca Fagioli , Giovanni Battista Ferrero , Nicoletta Resta , Alessandro Mussa

Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies.

Genes, chromosomes & cancer

Avec: Alessandro Mussa , Antonella Turchiano , Simona Cardaropoli , Paola Coppo , Antonino Pantaleo , Rosanna Bagnulo , Carlotta Ranieri , Matteo Iacoviello , Antonella Garganese , Alessandro Stella , Stefano Gabriele Vallero , Daniele Bertin , Federica Santoro , Diana Carli , Giovanni Battista Ferrero , Nicoletta Resta

Role of the Macrophage Migration Inhibitory Factor in the Pathophysiology of Pre-Eclampsia.

International journal of molecular sciences

Avec: Tullia Todros , Luana Paulesu , Simona Cardaropoli , Alessandro Rolfo , Bianca Masturzo , Leonardo Ermini , Roberta Romagnoli , Francesca Ietta

Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Lisa Pavinato , Jennifer Stanic , Marta Barzasi , Antonia Gurgone , Giuseppe Chiantia , Valentina Cipriani , Ivano Eberini , Luca Palazzolo , Monica Di Luca , Alex Costa , Andrea Marcantoni , Elisa Biamino , Marco Spada , Susan M Hiatt , Whitley V Kelley , Letizia Vestito , Sanjay M Sisodiya , Auteur inconnu , Stephanie Efthymiou , Prem Chand , Rauan Kaiyrzhanov , Alessandro Bruselles , Simona Cardaropoli , Marco Tartaglia , Silvia De Rubeis , Joseph D Buxbaum , Damian Smedley , Giovanni Battista Ferrero , Maurizio Giustetto , Fabrizio Gardoni , Alfredo Brusco

Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.

European journal of human genetics : EJHG

Avec: Chiara Giovenino , Slavica Trajkova , Lisa Pavinato , Simona Cardaropoli , Verdiana Pullano , Enza Ferrero , Elena Sukarova-Angelovska , Silvia Carestiato , Paola Salmin , Antonina Rinninella , Anthony Battaglia , Luca Bertoli , Antonio Fadda , Flavia Palermo , Diana Carli , Alessandro Mussa , Paola Dimartino , Alessandro Bruselles , Tawfiq Froukh , Giorgia Mandrile , Barbara Pasini , Silvia De Rubeis , Joseph D Buxbaum , Tommaso Pippucci , Marco Tartaglia , Marzia Rossato , Massimo Delledonne , Giovanni Battista Ferrero , Alfredo Brusco

Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant.

European journal of human genetics : EJHG

Avec: Andrea Gazzin , Federico Fornari , Marcello Niceta , Chiara Leoni , Maria Lisa Dentici , Diana Carli , Anna Maria Villar , Giulio Calcagni , Elena Banaudi , Stefania Massuras , Simona Cardaropoli , Elena Airulo , Paola Daniele , Emanuele Monda , Giuseppe Limongelli , Chiara Riggi , Giuseppe Zampino , Maria Cristina Digilio , Alessandro De Luca , Marco Tartaglia , Giovanni Battista Ferrero , Alessandro Mussa

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

Genetic and molecular evidence for complement dysregulation in patients with HELLP syndrome.

Thrombosis research

Avec: Mario Bazzan , Tullia Todros , Silvana Tedeschi , Gianluigi Ardissino , Simona Cardaropoli , Stefania Stella , Barbara Montaruli , Cristiana Marchese , Dario Roccatello , Massimo Cugno

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

Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome.

Genes, chromosomes & cancer

Avec: Diana Carli , Simona Cardaropoli , Daniele Tessaris , Paola Coppo , Roberta La Selva , Claudia Cesario , Francesca Romana Lepri , Verdiana Pullano , Martina Palumbo , Ugo Ramenghi , Alfredo Brusco , Enzo Medico , Luisa De Sanctis , Giovanni Battista Ferrero , Alessandro Mussa

Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development.

Cancers

Avec: Maria Luca , Diana Carli , Simona Cardaropoli , Donatella Milani , Guido Cocchi , Chiara Leoni , Marina Macchiaiolo , Andrea Bartuli , Luigi Tarani , Daniela Melis , Piera Bontempo , Gemma D'Elia , Elisabetta Prada , Raffaele Vitale , Angelina Grammegna , Pierpaola Tannorella , Angela Sparago , Laura Pignata , Andrea Riccio , Silvia Russo , Giovanni Battista Ferrero , Alessandro Mussa

Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros).

European journal of human genetics : EJHG

Avec: Giuseppe Reynolds , Simona Cardaropoli , Diana Carli , Maria Luca , Andrea Gazzin , Paola Coppo , Roberta La Selva , Marilidia Piglionica , Rosanna Bagnulo , Antonella Turchiano , Carlotta Ranieri , Nicoletta Resta , Alessandro Mussa

Réseau de co-auteurs

Simona Cardaropoli 22 collaborations

Giovanni Battista Ferrero 19 collaborations

Diana Carli 19 collaborations

Alessandro Mussa 18 collaborations

Nicoletta Resta 8 collaborations

Paola Coppo 7 collaborations

Alfredo Brusco 6 collaborations

Andrea Gazzin 5 collaborations

Roberta La Selva 5 collaborations

Marco Tartaglia 5 collaborations

Lisa Pavinato 4 collaborations

None None 4 collaborations

Maria Luca 4 collaborations

Rosanna Bagnulo 4 collaborations

Carlotta Ranieri 4 collaborations

Elisa Giorgio 3 collaborations

Slavica Trajkova 3 collaborations

Silvia De Rubeis 3 collaborations

Joseph D Buxbaum 3 collaborations

Marilidia Piglionica 3 collaborations

Antonella Turchiano 3 collaborations

Matteo Iacoviello 3 collaborations

Verdiana Pullano 3 collaborations

Chiara Leoni 3 collaborations

Stefania Massuras 2 collaborations

Piera Bontempo 2 collaborations

Gemma D'Elia 2 collaborations

Federica Zinali 2 collaborations

Antonino Pantaleo 2 collaborations

Fabio Sirchia 2 collaborations

Giuseppe Zampino 2 collaborations

Federica Santoro 2 collaborations

Tullia Todros 2 collaborations

Alessandro Bruselles 2 collaborations

Chiara Giovenino 2 collaborations

Enza Ferrero 2 collaborations

Elena Sukarova-Angelovska 2 collaborations

Silvia Carestiato 2 collaborations

Antonina Rinninella 2 collaborations

Flavia Palermo 2 collaborations

Paola Dimartino 2 collaborations

Giorgia Mandrile 2 collaborations

Barbara Pasini 2 collaborations

Tommaso Pippucci 2 collaborations

Federico Fornari 2 collaborations

Anna Maria Villar 2 collaborations

Martina Palumbo 2 collaborations

Enzo Medico 2 collaborations

Silvia Russo 2 collaborations

Guido Cocchi 2 collaborations

Donatella Milani 2 collaborations

Elisabetta Prada 2 collaborations

Daniela Melis 2 collaborations

Luigi Tarani 2 collaborations

Marina Macchiaiolo 2 collaborations

Angela Sparago 2 collaborations

Laura Pignata 2 collaborations

Pierpaola Tannorella 2 collaborations

Andrea Bartuli 2 collaborations

Andrea Riccio 2 collaborations

Jack M Fu 1 collaboration

F Kyle Satterstrom 1 collaboration

Minshi Peng 1 collaboration

Harrison Brand 1 collaboration

Ryan L Collins 1 collaboration

Shan Dong 1 collaboration

Brie Wamsley 1 collaboration

Lambertus Klei 1 collaboration

Lily Wang 1 collaboration

Stephanie P Hao 1 collaboration

Christine R Stevens 1 collaboration

Caroline Cusick 1 collaboration

Mehrtash Babadi 1 collaboration

Eric Banks 1 collaboration

Brett Collins 1 collaboration

Sheila Dodge 1 collaboration

Stacey B Gabriel 1 collaboration

Laura Gauthier 1 collaboration

Samuel K Lee 1 collaboration

Lindsay Liang 1 collaboration

Alicia Ljungdahl 1 collaboration

Behrang Mahjani 1 collaboration

Laura Sloofman 1 collaboration

Andrey N Smirnov 1 collaboration

Mafalda Barbosa 1 collaboration

Catalina Betancur 1 collaboration

Brian H Y Chung 1 collaboration

Edwin H Cook 1 collaboration

Michael L Cuccaro 1 collaboration

Enrico Domenici 1 collaboration

J Jay Gargus 1 collaboration

Gail E Herman 1 collaboration

Irva Hertz-Picciotto 1 collaboration

Patricia Maciel 1 collaboration

Dara S Manoach 1 collaboration

Maria Rita Passos-Bueno 1 collaboration

Antonio M Persico 1 collaboration

Alessandra Renieri 1 collaboration

James S Sutcliffe 1 collaboration

Flora Tassone 1 collaboration

Elisabetta Trabetti 1 collaboration

Gabriele Campos 1 collaboration

Marcus C Y Chan 1 collaboration

Chiara Fallerini 1 collaboration

Ana Cristina Girardi 1 collaboration

Emily Hansen-Kiss 1 collaboration

So Lun Lee 1 collaboration

Carla Lintas 1 collaboration

Yunin Ludena 1 collaboration

Rachel Nguyen 1 collaboration

Margaret Pericak-Vance 1 collaboration

Isaac N Pessah 1 collaboration

Rebecca J Schmidt 1 collaboration

Moyra Smith 1 collaboration

Claudia I S Costa 1 collaboration

Jaqueline Y T Wang 1 collaboration

Mullin H C Yu 1 collaboration

David J Cutler 1 collaboration

Mark J Daly 1 collaboration

Bernie Devlin 1 collaboration

Kathryn Roeder 1 collaboration

Stephan J Sanders 1 collaboration

Michael E Talkowski 1 collaboration

Simone Bellucca 1 collaboration

Mirko Caprioglio 1 collaboration

Maurizio De Pellegrin 1 collaboration

Luisa Franceschi 1 collaboration

Matteo Paonessa 1 collaboration

Simone Spolaore 1 collaboration

Mattia Cravino 1 collaboration

Lorenzo Marcucci 1 collaboration

Antonio Andreacchio 1 collaboration

Kimberly Dion 1 collaboration

Ria Deshpande 1 collaboration

Jennifer Kovarik 1 collaboration

Cristina Molinatto 1 collaboration

Giuseppe Palumbo 1 collaboration

Silvia Kalantari 1 collaboration

Rosaria Manicone 1 collaboration

Paola Francia di Celle 1 collaboration

Franca Fagioli 1 collaboration

Antonella Garganese 1 collaboration

Alessandro Stella 1 collaboration

Stefano Gabriele Vallero 1 collaboration

Daniele Bertin 1 collaboration

Luana Paulesu 1 collaboration

Alessandro Rolfo 1 collaboration

Bianca Masturzo 1 collaboration

Leonardo Ermini 1 collaboration

Roberta Romagnoli 1 collaboration

Francesca Ietta 1 collaboration

Jennifer Stanic 1 collaboration

Marta Barzasi 1 collaboration

Antonia Gurgone 1 collaboration

Giuseppe Chiantia 1 collaboration

Valentina Cipriani 1 collaboration

Ivano Eberini 1 collaboration

Luca Palazzolo 1 collaboration

Monica Di Luca 1 collaboration

Alex Costa 1 collaboration

Andrea Marcantoni 1 collaboration

Elisa Biamino 1 collaboration

Marco Spada 1 collaboration

Susan M Hiatt 1 collaboration

Whitley V Kelley 1 collaboration

Letizia Vestito 1 collaboration

Sanjay M Sisodiya 1 collaboration

Stephanie Efthymiou 1 collaboration

Prem Chand 1 collaboration

Rauan Kaiyrzhanov 1 collaboration

Damian Smedley 1 collaboration

Maurizio Giustetto 1 collaboration

Fabrizio Gardoni 1 collaboration

Paola Salmin 1 collaboration

Anthony Battaglia 1 collaboration

Luca Bertoli 1 collaboration

Antonio Fadda 1 collaboration

Tawfiq Froukh 1 collaboration

Marzia Rossato 1 collaboration

Massimo Delledonne 1 collaboration

Marcello Niceta 1 collaboration

Maria Lisa Dentici 1 collaboration

Giulio Calcagni 1 collaboration

Elena Banaudi 1 collaboration

Elena Airulo 1 collaboration

Paola Daniele 1 collaboration

Emanuele Monda 1 collaboration

Giuseppe Limongelli 1 collaboration

Chiara Riggi 1 collaboration

Maria Cristina Digilio 1 collaboration

Alessandro De Luca 1 collaboration

Chiara Bertola 1 collaboration

Valentina Pia Ciuffreda 1 collaboration

Marta Pieretto 1 collaboration

Anna Fusillo 1 collaboration

Mario Bazzan 1 collaboration

Silvana Tedeschi 1 collaboration

Gianluigi Ardissino 1 collaboration

Stefania Stella 1 collaboration

Barbara Montaruli 1 collaboration

Cristiana Marchese 1 collaboration

Dario Roccatello 1 collaboration

Massimo Cugno 1 collaboration

Caterina Carbonara 1 collaboration

Maria Francesca Campagnoli 1 collaboration

Paolo Galletto 1 collaboration

Simone Olivieri 1 collaboration

Claudio Isella 1 collaboration

Gregor Andelfinger 1 collaboration

Giovanni Botta 1 collaboration

Matteo Operti 1 collaboration

Mariateresa Falco 1 collaboration

Jennifer Spina 1 collaboration

Vera Uliana 1 collaboration

Osimani Sara 1 collaboration

Flavia Cerrato 1 collaboration

Jennifer Kerkhof 1 collaboration

Matteo Rossi Sebastiano 1 collaboration

Eleonora Di Gregorio 1 collaboration

Roberta Marinoni 1 collaboration

Jessica Rzasa 1 collaboration

Kathleen Rooney 1 collaboration

Haley McConkey 1 collaboration

Aleksandar Petlichkovski 1 collaboration

Christopher M Campbell 1 collaboration

Kay Metcalfe 1 collaboration

Sarah Jenkinson 1 collaboration

Siddharth Banka 1 collaboration

Bekim Sadikovic 1 collaboration

Daniele Tessaris 1 collaboration

Claudia Cesario 1 collaboration

Francesca Romana Lepri 1 collaboration

Ugo Ramenghi 1 collaboration

Luisa De Sanctis 1 collaboration

Raffaele Vitale 1 collaboration

Angelina Grammegna 1 collaboration

Giuseppe Reynolds 1 collaboration