Maria Iascone

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 40

Top Topics

Insulin Resistance

Autism Spectrum Disorder

Top Venues

American journal of medical genetics. Part A

International journal of molecular sciences

Science advances

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

Publications

Simon Früh, Sami Boudkkazi, Peter Koppensteiner, Vita Sereikaite, Li-Yuan Chen, Diego Fernandez-Fernandez, Pascal Dominic Rem, Daniel Ulrich, Jochen Schwenk, Ziyang Chen, Elodie Le Monnier, Thorsten Fritzius, Sabrina M Innocenti, Valérie Besseyrias, Luca Trovò, Michal Stawarski, Emanuela Argilli, Elliott H Sherr, Bregje van Bon, Erik-Jan Kamsteeg, Maria Iascone, Alba Pilotta, Maria R Cutrì, Mahshid S Azamian, Andrés Hernández-García, Seema R Lalani, Jill Anne Rosenfeld, Xiaonan Zhao, Tiphanie P Vogel, Herda Ona, Daryl A Scott, Peter Scheiffele, Kristian Stro Mgaard, Mehdi Tafti, Martin Gassmann, Bernd Fakler, Ryuichi Shigemoto, Bernhard Bettler
Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release. Science advances 10 (28) (2024)
Giulia Bruna Marchetti, Donatella Milani, Livia Pisciotta, Laura Pezzoli, Paola Marchisio, Berardo Rinaldi, Maria Iascone
The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the CREBBP Gene. Genes 15 (6) (2024)
Simon Früh, Sami Boudkkazi, Peter Koppensteiner, Vita Sereikaite, Li-Yuan Chen, Diego Fernandez-Fernandez, Pascal Dominic Rem, Daniel Ulrich, Jochen Schwenk, Ziyang Chen, Elodie Le Monnier, Thorsten Fritzius, Sabrina M Innocenti, Valérie Besseyrias, Luca Trovò, Michal Stawarski, Emanuela Argilli, Elliott H Sherr, Bregje van Bon, Erik-Jan Kamsteeg, Maria Iascone, Alba Pilotta, Maria R Cutrì, Mahshid S Azamian, Andrés Hernández-García, Seema R Lalani, Jill Anne Rosenfeld, Xiaonan Zhao, Tiphanie P Vogel, Herda Ona, Daryl A Scott, Peter Scheiffele, Kristian Stro Mgaard, Mehdi Tafti, Martin Gassmann, Bernd Fakler, Ryuichi Shigemoto, Bernhard Bettler
Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release. Science advances 10 (28) (2024)
Mario Tortora, Elisa Cattaneo, Luigina Spaccini, Maria Iascone, Barbara Scelsa, Alessia Micalizzi, Antonio Novelli, Mariano Lanna, Andrea Righini, Pierangelo Veggiotti, Chiara Doneda
Novel Genetic Variant in HUWE1 : Prenatal and Postnatal Neuroimaging Phenotype. Neurology. Genetics 10 (4) (2024)
Mario Tortora, Elisa Cattaneo, Luigina Spaccini, Maria Iascone, Barbara Scelsa, Alessia Micalizzi, Antonio Novelli, Mariano Lanna, Andrea Righini, Pierangelo Veggiotti, Chiara Doneda
Novel Genetic Variant in HUWE1 : Prenatal and Postnatal Neuroimaging Phenotype. Neurology. Genetics 10 (4) (2024)
Simon Früh, Sami Boudkkazi, Peter Koppensteiner, Vita Sereikaite, Li-Yuan Chen, Diego Fernandez-Fernandez, Pascal Dominic Rem, Daniel Ulrich, Jochen Schwenk, Ziyang Chen, Elodie Le Monnier, Thorsten Fritzius, Sabrina M Innocenti, Valérie Besseyrias, Luca Trovò, Michal Stawarski, Emanuela Argilli, Elliott H Sherr, Bregje van Bon, Erik-Jan Kamsteeg, Maria Iascone, Alba Pilotta, Maria R Cutrì, Mahshid S Azamian, Andrés Hernández-García, Seema R Lalani, Jill Anne Rosenfeld, Xiaonan Zhao, Tiphanie P Vogel, Herda Ona, Daryl A Scott, Peter Scheiffele, Kristian Stro Mgaard, Mehdi Tafti, Martin Gassmann, Bernd Fakler, Ryuichi Shigemoto, Bernhard Bettler
Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release. Science advances 10 (28) (2024)
Giulia Bruna Marchetti, Donatella Milani, Livia Pisciotta, Laura Pezzoli, Paola Marchisio, Berardo Rinaldi, Maria Iascone
The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the CREBBP Gene. Genes 15 (6) (2024)
Giulia Bruna Marchetti, Donatella Milani, Livia Pisciotta, Laura Pezzoli, Paola Marchisio, Berardo Rinaldi, Maria Iascone
The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the CREBBP Gene. Genes 15 (6) (2024)
Lia Crotti, Carla Spazzolini, Mette Nygaard, Michael Toft Overgaard, Maria-Christina Kotta, Federica Dagradi, Luca Sala, Takeshi Aiba, Mark D Ayers, Anwar Baban, Julien Barc, Cheyenne M Beach, Elijah R Behr, J Martijn Bos, Marina Cerrone, Peter Covi, Bettina F Cuneo, Isabelle Denjoy, Birgit Donner, Adrienne Elbert, Håkan Eliasson, Susan P Etheridge, Megumi Fukuyama, Francesca Girolami, Robert M Hamilton, Minoru Horie, Maria Iascone, Juan Jiménez Jaimez, Henrik Kjaerulf Jensen, Prince J Kannankeril, Juan Pablo Pablo Kaski, Naomasa Makita, Carmen Muñoz-Esparza, Hans Henrik Odland, Seiko Ohno, John Papagiannis, Alessandra Pia Porretta, Christopher Prandstetter, Vincent Probst, Tomas Robyns, Eric Rosenthal, Ferran Roses Y Noguer, Nicole Sekarski, Anoop Singh, Georgia Spentzou, Fridrike Stute, Jacob Tfelt Hansen, Jan Till, Kathryn E Tobert, Jeffrey M Vinocur, Gregory Webster, Arthur A M Wilde, Cordula M Wolf, Michael J Ackerman, Peter J Schwartz
Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry. European heart journal (2023)
Dario Ronchi, Manuela Garbellini, Francesca Magri, Francesca Menni, Megi Meneri, Maria Francesca Bedeschi, Robertino Dilena, Valeria Cecchetti, Irene Picciolli, Francesca Furlan, Valentina Polimeni, Sabrina Salani, Laura Pezzoli, Francesco Fortunato, Matteo Bellini, Daniela Piga, Michela Ripolone, Simona Zanotti, Laura Napoli, Patrizia Ciscato, Monica Sciacco, Giovanna Mangili, Fabio Mosca, Stefania Corti, Maria Iascone, Giacomo Pietro Comi
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy. European journal of human genetics : EJHG (2023)
Lidia Pezzani, Laura Pezzoli, Erica Rosina, Agnese Scatigno, Anna Cereda, Camilla Lucca, Matteo Bellini, Daniela Marchetti, Marzia Maino, Giovanna Mangili, Angelo Selicorni, Maria Iascone
Double somatic mosaicism in Cornelia de Lange syndrome. American journal of medical genetics. Part A (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)
Francesca Di Lorenzo, Enrica Marchionni, Valentina Ferradini, Andrea Latini, Laura Pezzoli, Annamaria Martino, Fabiana Romeo, Annamaria Iorio, Stefano Bianchi, Maria Iascone, Leonardo Calò, Giuseppe Novelli, Ruggiero Mango, Federica Carla Sangiuolo
DSP -Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort. International journal of molecular sciences 24 (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)
Francesca Di Lorenzo, Enrica Marchionni, Valentina Ferradini, Andrea Latini, Laura Pezzoli, Annamaria Martino, Fabiana Romeo, Annamaria Iorio, Stefano Bianchi, Maria Iascone, Leonardo Calò, Giuseppe Novelli, Ruggiero Mango, Federica Carla Sangiuolo
DSP -Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort. International journal of molecular sciences 24 (3) (2023)
Henry Oppermann, Elia Marcos-Grañeda, Linnea A Weiss, Christina A Gurnett, Anne Marie Jelsig, Susanne H Vineke, Bertrand Isidor, Sandra Mercier, Kari Magnussen, Pia Zacher, Mona Hashim, Alistair T Pagnamenta, Simone Race, Siddharth Srivastava, Zoë Frazier, Robert Maiwald, Matthias Pergande, Donatella Milani, Martina Rinelli, Jonathan Levy, Ilona Krey, Paolo Fontana, Fortunato Lonardo, Stephanie Riley, Jasmine Kretzer, Julia Rankin, Linda M Reis, Elena V Semina, Miriam S Reuter, Stephen W Scherer, Maria Iascone, Denisa Weis, Christina R Fagerberg, Charlotte Brasch-Andersen, Lars Kjaersgaard Hansen, Alma Kuechler, Nathan Noble, Alice Gardham, Jessica Tenney, Geetanjali Rathore, Stefanie Beck-Woedl, Tobias B Haack, Despoina C Pavlidou, Isis Atallah, Julia Vodopiutz, Andreas R Janecke, Tzung-Chien Hsieh, Hellen Lesmann, Hannah Klinkhammer, Peter M Krawitz, Johannes R Lemke, Rami Abou Jamra, Marta Nieto, Zeynep Tümer, Konrad Platzer
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology. European journal of human genetics : EJHG (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)
Jean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, Vincent Michaud, Benoit Arveiler, Patricia Fergelot, Jean Delmas, Boris Keren, Céline Poirsier, Fowzan Sami Alkuraya, Brahim Tabarki, Eric Bend, Kellie Davis, E Martina Bebin, Michelle L Thompson, Emily M Bryant, Matias Wagner, Iris Hannibal, Jerica Lenberg, Martin Krenn, Kristen M Wigby, Jennifer R Friedman, Maria Iascone, Anna Cereda, Térence Miao, Eric Le Guern, Emanuela Argilli, Elliott Sherr, Oana Caluseriu, Timothy Tidwell, Pinar Bayrak-Toydemir, Caroline Hagedorn, Melanie Brugger, Katharina Vill, Francois-Dominique Morneau-Jacob, Wendy K Chung, Kathryn Nicole Weaver, Joshua W Owens, Ammar Husami, Bimal P Chaudhari, Brandon S Stone, Katie Burns, Rachel Li, Iris M de Lange, Margaux Biehler, Emmanuelle Ginglinger, Bénédicte Gérard, Rolf W Stottmann, Aurélien Trimouille
ARF1 -related disorder: phenotypic and molecular spectrum. Journal of medical genetics (2023)
Lidia Pezzani, Laura Pezzoli, Erica Rosina, Agnese Scatigno, Anna Cereda, Camilla Lucca, Matteo Bellini, Daniela Marchetti, Marzia Maino, Giovanna Mangili, Angelo Selicorni, Maria Iascone
Double somatic mosaicism in Cornelia de Lange syndrome. American journal of medical genetics. Part A 194 (5) (2023)
Beatrice Conti, Berardo Rinaldi, Martina Rimoldi, Roberta Villa, Maria Iascone, Silvana Gangi, Matteo Porro, Paola Francesca Ajmone, Anna Maria Colli, Fabio Mosca, Maria Francesca Bedeschi
Chung-Jansen syndrome can mimic Cornelia de Lange syndrome: Another player among chromatinopathies? American journal of medical genetics. Part A (2023)
Jesse B G Hayesmoore, Zahurul A Bhuiyan, Domenico A Coviello, Desirée du Sart, Matthew Edwards, Maria Iascone, Deborah J Morris-Rosendahl, Katie Sheils, Marjon van Slegtenhorst, Kate L Thomson
EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias. European journal of human genetics : EJHG (2023)
Alice Moroni, Lidia Pezzani, Enrico Alfei, Agnese Scatigno, Anna Cereda, Michela Marzaroli, Claudia Guuva, Sara Gabbiadini, Laura Pezzoli, Daniela Marchetti, Luigina Spaccini, Maria Iascone
Rock around DYRK1A: Ethnic diversity, clinical challenges. American journal of medical genetics. Part A (2023)
Beatrice Conti, Berardo Rinaldi, Martina Rimoldi, Roberta Villa, Maria Iascone, Silvana Gangi, Matteo Porro, Paola Francesca Ajmone, Anna Maria Colli, Fabio Mosca, Maria Francesca Bedeschi
Chung-Jansen syndrome can mimic Cornelia de Lange syndrome: Another player among chromatinopathies? American journal of medical genetics. Part A (2023)
Erica Rosina, Lidia Pezzani, Erika Apuril, Laura Pezzoli, Daniela Marchetti, Matteo Bellini, Camilla Lucca, Camilla Meossi, Marta Massimello, Milena Mariani, Agnese Scatigno, Elisa Cattaneo, Lorenzo Colombo, Silvia Maitz, Anna Cereda, Donatella Milani, Luigina Spaccini, Maria Francesca Bedeschi, Angelo Selicorni, Maria Iascone
Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study. Molecular genetics & genomic medicine (2023)
Lidia Pezzani, Laura Pezzoli, Erica Rosina, Agnese Scatigno, Anna Cereda, Camilla Lucca, Matteo Bellini, Daniela Marchetti, Marzia Maino, Giovanna Mangili, Angelo Selicorni, Maria Iascone
Double somatic mosaicism in Cornelia de Lange syndrome. American journal of medical genetics. Part A 194 (5) (2023)
Francesca Di Lorenzo, Enrica Marchionni, Valentina Ferradini, Andrea Latini, Laura Pezzoli, Annamaria Martino, Fabiana Romeo, Annamaria Iorio, Stefano Bianchi, Maria Iascone, Leonardo Calò, Giuseppe Novelli, Ruggiero Mango, Federica Carla Sangiuolo
DSP -Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort. International journal of molecular sciences 24 (3) (2023)
Francesca Di Lorenzo, Enrica Marchionni, Valentina Ferradini, Andrea Latini, Laura Pezzoli, Annamaria Martino, Fabiana Romeo, Annamaria Iorio, Stefano Bianchi, Maria Iascone, Leonardo Calò, Giuseppe Novelli, Ruggiero Mango, Federica Carla Sangiuolo
DSP -Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort. International journal of molecular sciences 24 (3) (2023)
Lidia Pezzani, Laura Pezzoli, Erica Rosina, Agnese Scatigno, Anna Cereda, Camilla Lucca, Matteo Bellini, Daniela Marchetti, Marzia Maino, Giovanna Mangili, Angelo Selicorni, Maria Iascone
Double somatic mosaicism in Cornelia de Lange syndrome. American journal of medical genetics. Part A 194 (5) (2023)
Martha Caterina Faraguna, Francesca Musto, Viola Crescitelli, Maria Iascone, Luigina Spaccini, Davide Tonduti, Tiziana Fedeli, Gaia Kullmann, Francesco Canonico, Alessandro Cattoni, Fabiola Dell'Acqua, Carmelo Rizzari, Serena Gasperini
Mucopolysaccharidosis-Plus Syndrome, a Rapidly Progressive Disease: Favorable Impact of a Very Prolonged Steroid Treatment on the Clinical Course in a Child. Genes 13 (3) (2022)
Martina Rimoldi, Berardo Rinaldi, Roberta Villa, Jacopo Cerasani, Benedetta Beltrami, Maria Iascone, Rosamaria Silipigni, Simona Boito, Silvana Gangi, Lorenzo Colombo, Matteo Porro, Claudia Cesaretti, Maria Francesca Bedeschi
Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases. American journal of medical genetics. Part A (2022)
Benedetta Beltrami, Jacopo Cerasani, Alessandra Consales, Roberta Villa, Nicoletta Resta, Daria Carmela Loconte, Simona Boito, Luca Caschera, Laura Bassi, Lorenzo Colombo, Maria Iascone, Maria Francesca Bedeschi
Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome? Clinical case reports 10 (8) (2022)
Claudio Giacomozzi, Ayelen Martin, María Celia Fernández, Mariana Gutiérrez, Maria Iascone, Horacio M Domené, Fernando P Dominici, Ignacio Bergadá, Biagio Cangiano, Luca Persani, Patricia A Pennisi
Novel Insulin-Like Growth Factor 1 Gene Mutation: Broadening of the Phenotype and Implications for Insulin Resistance. The Journal of clinical endocrinology and metabolism (2022)
Erica Rosina, Lidia Pezzani, Laura Pezzoli, Daniela Marchetti, Matteo Bellini, Alba Pilotta, Olga Calabrese, Emanuele Nicastro, Francesco Cirillo, Anna Cereda, Agnese Scatigno, Donatella Milani, Maria Iascone
Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients. Genes 13 (7) (2022)
Marco Ferilli, Andrea Ciolfi, Lucia Pedace, Marcello Niceta, Francesca Clementina Radio, Simone Pizzi, Evelina Miele, Camilla Cappelletti, Cecilia Mancini, Tiziana Galluccio, Marco Andreani, Maria Iascone, Luigi Chiriatti, Antonio Novelli, Alessia Micalizzi, Marta Matraxia, Lucia Menale, Flavio Faletra, Paolo Prontera, Alba Pilotta, Maria Francesca Bedeschi, Rossella Capolino, Anwar Baban, Marco Seri, Corrado Mammì, Giuseppe Zampino, Maria Cristina Digilio, Bruno Dallapiccola, Manuela Priolo, Tartaglia Marco
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants. Genes 13 (11) (2022)
Claudia Santoro, Giuseppe Mirone, Mariateresa Zanobio, Giusy Ranucci, Alessandra D'Amico, Domenico Cicala, Maria Iascone, Pia Bernardo, Vincenzo Piccolo, Andrea Ronchi, Giuseppe Limongelli, Maria Pina Mollica, Vincenzo Nigro, Giuseppe Cinalli, Giulio Piluso
Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review. International journal of molecular sciences 23 (16) (2022)
Edgard Verdura, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, Laura Planas-Serra, Irene de la Calle, Miquel Raspall-Chaure, Agathe Roubertie, Mehdi Benkirane, Francesco Saettini, Lisa Pavinato, Giorgia Mandrile, Melanie O'Leary, Emily O'Heir, Estibaliz Barredo, Almudena Chacón, Vincent Michaud, Cyril Goizet, Montserrat Ruiz, Agatha Schlüter, Isabelle Rouvet, Julia Sala-Coromina, Chiara Fossati, Maria Iascone, Francesco Canonico, Anna Marcé-Grau, Precilla de Souza, David R Adams, Carlos Casasnovas, Heidi L Rehm, Heather C Mefford, Luis González Gutierrez-Solana, Alfredo Brusco, Michel Koenig, Alfons Macaya, Aurora Pujol
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy. Brain : a journal of neurology 144 (9) (2021)
Tommaso Lo Barco, Elisa Osanni, Andrea Bordugo, Giulia Rodella, Maria Iascone, Romano Tenconi, Rita Barone, Bernardo Dalla Bernardina, Gaetano Cantalupo
Epilepsy and movement disorders in CDG: Report on the oldest-known MOGS-CDG patient. American journal of medical genetics. Part A 185 (1) (2020)
Angela Peron, Maria Iascone, Elisabetta Salvatici, Benedetta Cavirani, Daniela Marchetti, Silvia Corno, Aglaia Vignoli
PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature. American journal of medical genetics. Part A 182 (6) (2020)
Lidia Pezzani, Laura Pezzoli, Alessandra Pansa, Barbara Facchinetti, Daniela Marchetti, Agnese Scatigno, Anna R Lincesso, Loredana Perego, Monica Pingue, Isabella Pellicioli, Lucia Migliazza, Giovanna Mangili, Lorenzo Galletti, Ursula Giussani, Ezio Bonanomi, Anna Cereda, Maria Iascone
Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype? Molecular genetics & genomic medicine 8 (3) (2020)
Lidia Pezzani, Daniela Marchetti, Anna Cereda, Lorella G Caffi, Ornella Manara, Daniela Mamoli, Laura Pezzoli, Anna R Lincesso, Loredana Perego, Isabella Pellicioli, Ezio Bonanomi, Laura Salvoni, Maria Iascone
Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy. American journal of medical genetics. Part A 176 (12) (2018)