Diana Carli (D Carli)

Scopus Author ID ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 46

Top Venues

European journal of human genetics : EJHG

Cancers

American journal of medical genetics. Part A

Genes

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

Publications

Elise Pisan, Chiara De Luca, Francesco Brancati, Rossana Sanchez Russo, Dong Li, Elizabeth Joyce Bhoj, Tara Wenger, Ashish Marwaha, Nicole Johnson, Claire Beneteau, Elise Brischoux-Boucher, Gunnar Houge, Julie Paulsen, Trine Bjørg Hammer, Jakob Ek, Daniela Schweitzer, Bianca E Russell, Marina Dutra-Clarke, Stanley Nelson, Emilie D Douine, Rosario I Corona, Tracy Dudding, Hannah Thomson, Karen Low, Newell Belnap, Maria Iascone, Manuela Priolo, Diana Carli, Alessandro Mussa, Emilia K Bijlsma, Nathan Kopp, Jean-Philippe Jais, Jeanne Amiel, Christopher T Gordon
The spectrum of heart defects in the TRAF7 -related multiple congenital anomalies-intellectual disability syndrome. Proceedings of the National Academy of Sciences of the United States of America 121 (12) (2024)
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, Tartaglia Marco, Giovanbattista Giovanni Battista Ferrero, Alessandro Mussa
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 32 (8) (2024)
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, Hélène Cave, Maria Cristina Digilio, Tartaglia Marco
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis. European journal of human genetics : EJHG 32 (8) (2024)
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, Tartaglia Marco, Giovanbattista Giovanni Battista Ferrero, Alessandro Mussa
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 (2024)
Elise Pisan, Chiara De Luca, Francesco Brancati, Rossana Sanchez Russo, Dong Li, Elizabeth Joyce Bhoj, Tara Wenger, Ashish Marwaha, Nicole Johnson, Claire Beneteau, Elise Brischoux-Boucher, Gunnar Houge, Julie Paulsen, Trine Bjørg Hammer, Jakob Ek, Daniela Schweitzer, Bianca E Russell, Marina Dutra-Clarke, Stanley Nelson, Emilie D Douine, Rosario I Corona, Tracy Dudding, Hannah Thomson, Karen Low, Newell Belnap, Maria Iascone, Manuela Priolo, Diana Carli, Alessandro Mussa, Emilia K Bijlsma, Nathan Kopp, Jean-Philippe Jais, Jeanne Amiel, Christopher T Gordon
The spectrum of heart defects in the TRAF7 -related multiple congenital anomalies-intellectual disability syndrome. Proceedings of the National Academy of Sciences of the United States of America 121 (12) (2024)
Andrea Gazzin, Federico Fornari, Simona Cardaropoli, Diana Carli, Tartaglia Marco, Giovanni Battista Ferrero, Alessandro Mussa
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) 14 (6) (2024)
Andrea Gazzin, Federico Fornari, Simona Cardaropoli, Diana Carli, Tartaglia Marco, Giovanni Battista Ferrero, Alessandro Mussa
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) 14 (6) (2024)
Camilla Sarli, Liselot van der Laan, Jack Reilly, Slavica Trajkova, Diana Carli, Alfredo Brusco, Michael A Levy, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Matthew L Tedder, Cindy D Skinner, Mariëlle Alders, Peter Henneman, Raoul C M Hennekam, Claudia Ciaccio, Stefano D'Arrigo, Antonio Vitobello, Laurence Olivier-Faivre, Sacha Weber, Aline Vincent-Devulder, Laurence Perrin, Alexia Bourgois, Toshiyuki Yamamoto, Kay Metcalfe, Marcella Zollino, Usha Kini, Daniela Oliveira, Sergio B Sousa, Denise Williams, Gerarda Cappuccio, Bekim Sadikovic, Nicola Brunetti-Pierri
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
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, Tartaglia Marco, Giovanbattista Giovanni Battista Ferrero, Alessandro Mussa
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 32 (8) (2024)
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, Tartaglia Marco, Giovanbattista Giovanni Battista Ferrero, Alessandro Mussa
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 32 (8) (2024)
Elise Pisan, Chiara De Luca, Francesco Brancati, Rossana Sanchez Russo, Dong Li, Elizabeth Joyce Bhoj, Tara Wenger, Ashish Marwaha, Nicole Johnson, Claire Beneteau, Elise Brischoux-Boucher, Gunnar Houge, Julie Paulsen, Trine Bjørg Hammer, Jakob Ek, Daniela Schweitzer, Bianca E Russell, Marina Dutra-Clarke, Stanley Nelson, Emilie D Douine, Rosario I Corona, Tracy Dudding, Hannah Thomson, Karen Low, Newell Belnap, Maria Iascone, Manuela Priolo, Diana Carli, Alessandro Mussa, Emilia K Bijlsma, Nathan Kopp, Jean-Philippe Jais, Jeanne Amiel, Christopher T Gordon
The spectrum of heart defects in the TRAF7 -related multiple congenital anomalies-intellectual disability syndrome. Proceedings of the National Academy of Sciences of the United States of America 121 (12) (2024)
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, Tartaglia Marco, Giovanbattista Giovanni Battista Ferrero, Alessandro Mussa
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 32 (8) (2024)
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, Hélène Cave, Maria Cristina Digilio, Tartaglia Marco
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis. European journal of human genetics : EJHG 32 (8) (2024)
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, Hélène Cave, Maria Cristina Digilio, Tartaglia Marco
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis. European journal of human genetics : EJHG 32 (8) (2024)
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, Hélène Cave, Maria Cristina Digilio, Tartaglia Marco
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis. European journal of human genetics : EJHG (2024)
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, Hélène Cave, Maria Cristina Digilio, Tartaglia Marco
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis. European journal of human genetics : EJHG 32 (8) (2024)
Emanuele Coccia, Lara Valeri, Roberta Zuntini, Stefano Giuseppe Caraffi, Francesca Peluso, Luca Pagliai, Antonietta Vezzani, Zaira Pietrangiolillo, Francesco Leo, Nives Melli, Valentina Fiorini, Andrea Greco, Francesca Romana Lepri, Elisa Pisaneschi, Annabella Marozza, Diana Carli, Alessandro Mussa, Francesca Clementina Radio, Beatrice Conti, Maria Iascone, Giancarlo Gargano, Antonio Novelli, Tartaglia Marco, Orsetta Zuffardi, Maria Francesca Bedeschi, Livia Garavelli
Prenatal Clinical Findings in RASA1 -Related Capillary Malformation-Arteriovenous Malformation Syndrome. Genes 14 (3) (2023)
Paola Quarello, Diana Carli, Davide Biasoni, Simona Gerocarni Nappo, Carlo Morosi, Roberta Cotti, Emanuela Garelli, Giulia Zucchetti, Manuela Spadea, Elisa Tirtei, Filippo Spreafico, Franca Fagioli
Implications of an Underlying Beckwith-Wiedemann Syndrome for Wilms Tumor Treatment Strategies. Cancers 15 (4) (2023)
Emanuele Coccia, Lara Valeri, Roberta Zuntini, Stefano Giuseppe Caraffi, Francesca Peluso, Luca Pagliai, Antonietta Vezzani, Zaira Pietrangiolillo, Francesco Leo, Nives Melli, Valentina Fiorini, Andrea Greco, Francesca Romana Lepri, Elisa Pisaneschi, Annabella Marozza, Diana Carli, Alessandro Mussa, Francesca Clementina Radio, Beatrice Conti, Maria Iascone, Giancarlo Gargano, Antonio Novelli, Tartaglia Marco, Orsetta Zuffardi, Maria Francesca Bedeschi, Livia Garavelli
Prenatal Clinical Findings in RASA1 -Related Capillary Malformation-Arteriovenous Malformation Syndrome. Genes 14 (3) (2023)
Emanuele Coccia, Lara Valeri, Roberta Zuntini, Stefano Giuseppe Caraffi, Francesca Peluso, Luca Pagliai, Antonietta Vezzani, Zaira Pietrangiolillo, Francesco Leo, Nives Melli, Valentina Fiorini, Andrea Greco, Francesca Romana Lepri, Elisa Pisaneschi, Annabella Marozza, Diana Carli, Alessandro Mussa, Francesca Clementina Radio, Beatrice Conti, Maria Iascone, Giancarlo Gargano, Antonio Novelli, Tartaglia Marco, Orsetta Zuffardi, Maria Francesca Bedeschi, Livia Garavelli
Prenatal Clinical Findings in RASA1 -Related Capillary Malformation-Arteriovenous Malformation Syndrome. Genes 14 (3) (2023)
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, Tartaglia Marco, Marzia Rossato, Massimo Delledonne, Giovanni Battista Ferrero, 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 (2023)
Paola Quarello, Diana Carli, Davide Biasoni, Simona Gerocarni Nappo, Carlo Morosi, Roberta Cotti, Emanuela Garelli, Giulia Zucchetti, Manuela Spadea, Elisa Tirtei, Filippo Spreafico, Franca Fagioli
Implications of an Underlying Beckwith-Wiedemann Syndrome for Wilms Tumor Treatment Strategies. Cancers 15 (4) (2023)
Paola Quarello, Diana Carli, Davide Biasoni, Simona Gerocarni Nappo, Carlo Morosi, Roberta Cotti, Emanuela Garelli, Giulia Zucchetti, Manuela Spadea, Elisa Tirtei, Filippo Spreafico, Franca Fagioli
Implications of an Underlying Beckwith-Wiedemann Syndrome for Wilms Tumor Treatment Strategies. Cancers 15 (4) (2023)
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
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development. Cancers 15 (3) (2023)
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
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development. Cancers 15 (3) (2023)
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
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros). European journal of human genetics : EJHG (2023)
Monica Hsiung Wojcik, Siddharth Srivastava, Pankaj B Agrawal, Tuğçe B Balcı, Bert Callewaert, Pier Luigi Calvo, Diana Carli, Michelle Caudle, Samantha Colaiacovo, Laura Ann Cross, Kalliope Demetriou, Katy Drazba, Marina Dutra-Clarke, Matthew Edwards, Casie A Genetti, Dorothy K Grange, Scott E Hickey, Bertrand Isidor, Sébastien Küry, Herbert M Lachman, Alinoe Lavillaureix, Michael J Lyons, Carlo Marcelis, Elysa J Marco, Julian A Martinez, Catherine Nowak, Antonio Pizzol, Marc Planes, Eloise J Prijoles, Evelise Riberi, Eric T Rush, Bianca E Russell, Rani Sachdev, Betsy Schmalz, Deborah Shears, David A Stevenson, Kate Wilson, Sandra Jansen, Bert B A de Vries, Cynthia J Curry
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families. American journal of medical genetics. Part A (2023)
Defabianis Patrizia, Alessandro Mussa, Rossella Ninivaggi, Diana Carli, Federica Romano
Maxillo-Facial Morphology in Beckwith-Wiedemann Syndrome: A Preliminary Study on (epi)Genotype-Phenotype Association in Caucasians. International journal of environmental research and public health 19 (4) (2022)
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 Hon-Yin Chung, Edwin H Cook, Michael L Cuccaro, Enrico Domenici, Giovanni Battista Ferrero, J Jay Gargus, Gail E Herman, Irva Hertz-Picciotto, Patrícia 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 De Sanctis Girardi, Emily Hansen-Kiss, So Lun Lee, Carla Lintas, Yunin Ludena, Rachel Nguyen, Lisa Pavinato, Margaret A Pericak-Vance, Isaac N Pessah, Rebecca J Schmidt, Moyra Smith, Claudia I S Costa, Slavica Trajkova, Jaqueline Y T Wang, Mullin H C Yu, null null, null null, null null, David J Cutler, Silvia De Rubeis, Joseph D Buxbaum, Mark J Daly, Bernie Devlin, Kathryn Roeder, Stephan J Sanders, Michael E Talkowski
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. Nature genetics 54 (9) (2022)
Mary R Sy, Jaynee Chauhan, Katrina Prescott, Aliza Imam, Alison Kraus, Ana Beleza, Lee Salkeld, Saraswati Hosdurga, Michael Parker, Pradeep Vasudevan, Lily Islam, Himanshu Goel, Nicole Bain, Soo-Mi Park, Shehla Mohammed, Klaus Dieterich, Charles Coutton, Véronique Satre, Gaëlle Vieville, Alan Donaldson, Claire Beneteau, Jamal Ghoumid, Kris Van Den Bogaert, Anneleen Boogaerts, Elise Boudry, Clémence Vanlerberghe, Florence Petit, Laura Bernardini, Barbara Torres, Teresa Mattina, Diana Carli, Giorgia Mandrile, Michele Pinelli, Nicola Brunetti-Pierri, Katherine Neas, Rachel Beddow, Pernille M Tørring, Flavio Faletra, Beatrice Spedicati, Paolo Gasparini, Alessandro Mussa, Giovanni Battista Ferrero, Anne Lampe, Wayne Lam, Weimin Bi, Carlos A Bacino, Akela Kuwahara, Jeffrey O Bush, Xiaonan Zhao, Pamela N Luna, Chad A Shaw, Jill A Rosenfeld, Daryl A Scott
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus. American journal of medical genetics. Part A 188 (12) (2022)
Diana Carli, Nicoletta Resta, Giovanbattista Giovanni Battista Ferrero, Martino Ruggieri, Alessandro Mussa
Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway. American journal of medical genetics. Part C, Seminars in medical genetics (2022)
Alessandro Mussa, Chiara Leoni, Matteo Iacoviello, Diana Carli, Carlotta Ranieri, Antonino Pantaleo, Paola Sabrina Buonuomo, Rosanna Bagnulo, Giovanni Battista Ferrero, Andrea Bartuli, Daniela Melis, Silvia Maitz, Daria Carmela Loconte, Antonella Turchiano, Marilidia Piglionica, Annunziata De Luisi, Francesco Claudio Susca, Nenad Bukvic, Cinzia Forleo, Angelo Selicorni, Giuseppe Zampino, Roberta Onesimo, Gerarda Cappuccio, Livia Garavelli, Chiara Novelli, Luigi Memo, Carla Morando, Matteo Della Monica, Maria Accadia, Martina Capurso, Carmelo Piscopo, Anna Cereda, Marilena Carmela Di Giacomo, Veronica Saletti, Alessandro Mauro Spinelli, Patrizia Lastella, Romano Tenconi, Veronika Dvorakova, Alan D Irvine, Nicoletta Resta
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants. Journal of medical genetics (2022)
César Augusto Pinheiro Ferreira Alves, O Sherbini, F D'Arco, Dora Batia Dyne Steel, Manju A Kurian, F C Radio, Giovanbattista Giovanni Battista Ferrero, Diana Carli, Tartaglia Marco, Tuğçe B Balcı, N N Powell-Hamilton, S A Schrier Vergano, H Reutter, Julia Hoefele, R Günthner, Elizabeth R Roeder, R O Littlejohn, Davor Lessel, Sabine Peters, C Kentros, Kwame Anyane-Yeboa, Claudia B Catarino, Saadet Mercimek-Mahmutoglu, J Denecke, Michael J Lyons, Florentine Radelfahr, Elizabeth Joyce Bhoj, Laura Bryant, Adeline Vanderver
Brain Abnormalities in Patients with Germline Variants in H3F3 : Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors. AJNR. American journal of neuroradiology 43 (7) (2022)
Diana Carli, Giovanbattista Giovanni Battista Ferrero, Anna Fusillo, Paola Coppo, Roberta La Selva, Federica Zinali, Simona Cardaropoli, Carlotta Ranieri, Matteo Iacoviello, Nicoletta Resta, Alessandro Mussa
A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth. Clinical genetics 99 (5) (2021)
Alessandro Mussa, Diana Carli, Simona Cardaropoli, Giovanni Battista Ferrero, Nicoletta Resta
Lateralized and Segmental Overgrowth in Children. Cancers 13 (24) (2021)
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, Tartaglia Marco, Giovanni Botta, Alfredo Brusco, Enzo Medico, Giovanni Battista Ferrero
MEK Inhibition in a Newborn with RAF1 -Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease. Genes 13 (1) (2021)
Slavica Trajkova, Eleonora Di Gregorio, Giovanni Battista Ferrero, Diana Carli, Lisa Pavinato, Geoffroy Delplancq, Paul Kuentz, Alfredo Brusco
New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review. Brain sciences 10 (11) (2020)
Diana Carli, Chiara Bertola, Simona Cardaropoli, Valentina Pia Ciuffreda, Marta Pieretto, Giovanni Battista Ferrero, Alessandro Mussa
Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing. Journal of medical genetics 58 (12) (2020)
Diana Carli, Andrea Gazzin, Maria Roberta Bongioanni, Mauro Bergui, Alessandro Mussa, Giovanbattista Giovanni Battista Ferrero
Chronic subdural hematoma: A previously unreported life-threatening complication in adult with Sotos syndrome. American journal of medical genetics. Part A 182 (12) (2020)
Giovanni Innella, Donatella Greco, Diana Carli, Pamela Magini, Elisa Giorgio, Ornella Galesi, Giovanbattista Giovanni Battista Ferrero, Corrado Romano, Alfredo Brusco, Claudio Graziano
Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5). American journal of medical genetics. Part A 185 (2) (2020)
Lisa Pavinato, Marina Villamor-Payà, Maria Sanchiz-Calvo, Cristina Andreoli, Marina Gay, Marta Vilaseca, Gianluca Arauz-Garofalo, Andrea Ciolfi, Alessandro Bruselles, Tommaso Pippucci, Valentina Prota, Diana Carli, Elisa Giorgio, Francesca Clementina Radio, Vincenzo Antona, Mario Giuffrè, Kara Ranguin, Cindy Colson, Silvia De Rubeis, Paola Dimartino, Joseph D Buxbaum, Giovanni Battista Ferrero, Marco Tartaglia, Simone Martinelli, Travis H Stracker, Alfredo Brusco
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis. Journal of medical genetics (2020)
Alessandro Mussa, Kelly A Duffy, Diana Carli, Jessica R Griff, Riccardo Fagiano, Jonida Kupa, Garrett M Brodeur, Giovanbattista Giovanni Battista Ferrero, Jennifer M Kalish
The effectiveness of Wilms tumor screening in Beckwith-Wiedemann spectrum. Journal of cancer research and clinical oncology 145 (12) (2019)
Andrea Gazzin, Diana Carli, Fabio Sirchia, Cristina Molinatto, Simona Cardaropoli, Giuseppe Palumbo, Giuseppe Zampino, Giovanni Battista Ferrero, Alessandro Mussa
Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome. American journal of medical genetics. Part A 179 (9) (2019)
Alessandro Mussa, Valentina Pia Ciuffreda, Pina Sauro, Veronica Pagliardini, Severo Pagliardini, Diana Carli, Jennifer M Kalish, Franca Fagioli, Enza Pavanello, Giovanni Battista Ferrero
Longitudinal Monitoring of Alpha-Fetoprotein by Dried Blood Spot for Hepatoblastoma Screening in Beckwith⁻Wiedemann Syndrome. Cancers 11 (1) (2019)
Diana Carli, Evelise Riberi, Giovanbattista Giovanni Battista Ferrero, Alessandro Mussa
Syndromic Disorders Caused by Disturbed Human Imprinting Journal of clinical research in pediatric endocrinology 12 (1) (2019)
Francesco Bonatti, Alessia Adorni, Annalisa Matichecchia, Paola Mozzoni, Vera Uliana, Francesco Pisani, Livia Garavelli, Claudio Graziano, Maria Gnoli, Diana Carli, Stefania Bigoni, Elena Boschi, Davide Martorana, Antonio Percesepe
Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I. International journal of molecular sciences 18 (10) (2017)

Diana Carli.css-eqlu8i{font-size:small;padding-left:4px;} (D Carli)

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Diana Carli (D Carli)