Mattia Gentile

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 19

Top Topics

Intellectual Disability

Dna Methylation

Gene Expression

Top Venues

Nature communications

Clinical genetics

American journal of medical genetics. Part A

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

Publications

Maria Felicia Faienza, Giovanni Meliota, Donatella Mentino, Romina Ficarella, Mattia Gentile, Ugo Vairo, Gabriele D'amato
Cardiac Phenotype and Gene Mutations in RASopathies. Genes 15 (8) (2024)
Maria Felicia Faienza, Giovanni Meliota, Donatella Mentino, Romina Ficarella, Mattia Gentile, Ugo Vairo, Gabriele D'amato
Cardiac Phenotype and Gene Mutations in RASopathies. Genes 15 (8) (2024)
Giulia Cova, Juliane Glaser, Robert Schöpflin, Cesar Augusto Prada-Medina, Salaheddine Ali, Martin Franke, Rita Falcone, Miriam Federer, Emanuela Ponzi, Romina Ficarella, Francesca Novara, Lars Wittler, Bernd Timmermann, Mattia Gentile, Orsetta Zuffardi, Malte Spielmann, Stefan Mundlos
Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3. Nature communications 14 (1) (2023)
Giulia Cova, Juliane Glaser, Robert Schöpflin, Cesar Augusto Prada-Medina, Salaheddine Ali, Martin Franke, Rita Falcone, Miriam Federer, Emanuela Ponzi, Romina Ficarella, Francesca Novara, Lars Wittler, Bernd Timmermann, Mattia Gentile, Orsetta Zuffardi, Malte Spielmann, Stefan Mundlos
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3. Nature communications 14 (1) (2023)
Flaviana Marzano, Matteo Chiara, Arianna Consiglio, Gabriele D'Amato, Mattia Gentile, Valentina Mirabelli, Maria Piane, Camilla Savio, Marco Fabiani, Domenica D'Elia, Elisabetta Sbisà, Gioacchino Scarano, Fortunato Lonardo, Apollonia Tullo, Graziano Pesole, Maria Felicia Faienza
Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II. International journal of molecular sciences 24 (15) (2023)
Giulia Cova, Juliane Glaser, Robert Schöpflin, Cesar Augusto Prada-Medina, Salaheddine Ali, Martin Franke, Rita Falcone, Miriam Federer, Emanuela Ponzi, Romina Ficarella, Francesca Novara, Lars Wittler, Bernd Timmermann, Mattia Gentile, Orsetta Zuffardi, Malte Spielmann, Stefan Mundlos
Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3. Nature communications 14 (1) (2023)
Giulia Cova, Juliane Glaser, Robert Schöpflin, Cesar Augusto Prada-Medina, Salaheddine Ali, Martin Franke, Rita Falcone, Miriam Federer, Emanuela Ponzi, Romina Ficarella, Francesca Novara, Lars Wittler, Bernd Timmermann, Mattia Gentile, Orsetta Zuffardi, Malte Spielmann, Stefan Mundlos
Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3. Nature communications 14 (1) (2023)
Francesco Nicola Riviello, Alessia Daponte, Emanuela Ponzi, Romina Ficarella, Paola Orsini, Roberta Bucci, Mario Ventura, Francesca Antonacci, Claudia Rita Catacchio, Mattia Gentile
A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features. Genes 14 (12) (2023)
Giulia Cova, Juliane Glaser, Robert Schöpflin, Cesar Augusto Prada-Medina, Salaheddine Ali, Martin Franke, Rita Falcone, Miriam Federer, Emanuela Ponzi, Romina Ficarella, Francesca Novara, Lars Wittler, Bernd Timmermann, Mattia Gentile, Orsetta Zuffardi, Malte Spielmann, Stefan Mundlos
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3. Nature communications 14 (1) (2023)
Giulia Cova, Juliane Glaser, Robert Schöpflin, Cesar Augusto Prada-Medina, Salaheddine Ali, Martin Franke, Rita Falcone, Miriam Federer, Emanuela Ponzi, Romina Ficarella, Francesca Novara, Lars Wittler, Bernd Timmermann, Mattia Gentile, Orsetta Zuffardi, Malte Spielmann, Stefan Mundlos
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3. Nature communications 14 (1) (2023)
Francesco Nicola Riviello, Alessia Daponte, Emanuela Ponzi, Romina Ficarella, Paola Orsini, Roberta Bucci, Mario Ventura, Francesca Antonacci, Claudia Rita Catacchio, Mattia Gentile
A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features. Genes 14 (12) (2023)
Giulia Cova, Juliane Glaser, Robert Schöpflin, Cesar Augusto Prada-Medina, Salaheddine Ali, Martin Franke, Rita Falcone, Miriam Federer, Emanuela Ponzi, Romina Ficarella, Francesca Novara, Lars Wittler, Bernd Timmermann, Mattia Gentile, Orsetta Zuffardi, Malte Spielmann, Stefan Mundlos
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3. Nature communications 14 (1) (2023)
Francesco Nicola Riviello, Alessia Daponte, Emanuela Ponzi, Romina Ficarella, Paola Orsini, Roberta Bucci, Mario Ventura, Francesca Antonacci, Claudia Rita Catacchio, Mattia Gentile
A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features. Genes 14 (12) (2023)
Maria Paola Recalcati, Ilaria Catusi, Maria Garzo, Serena Redaelli, Marta Massimello, Silvia Beatrice Maitz, Mattia Gentile, Emanuela Ponzi, Paola Orsini, Anna Zilio, Annamaria Montaldi, Annapaola Calò, Anna Paola Capra, Silvana Briuglia, Maria Angela La Rosa, Lucia Grillo, Corrado Romano, Sebastiano Bianca, Michela Malacarne, Martina Busè, Maria Piccione, Lidia Larizza
12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature. Genes 13 (5) (2022)
Mattia Gentile, Tiziana Fanelli, Francesca Romana Lepri, Angela Gentile, Paola Orsini, Paolo Volpe, Antonio Novelli, Romina Ficarella
First prenatal case of Noonan syndrome with SOS2 mutation: Implications of early diagnosis for genetic counseling. American journal of medical genetics. Part A 185 (6) (2021)
Angelo Cellamare, Nicoletta Coccaro, Maria Cristina Nuzzi, Paola Casieri, Marilina Tampoia, Flavia Angela Maria Maggiolini, Mattia Gentile, Romina Ficarella, Emanuela Ponzi, Maria Rosa Conserva, Laura Cardarelli, Annunziata Panarese, Francesca Antonacci, Antonia Gesario
Cytogenetic and Array-CGH Characterization of a Simple Case of Reciprocal t(3;10) Translocation Reveals a Hidden Deletion at 5q12. Genes 12 (6) (2021)
Alessio Danilo Inchingolo, Assunta Patano, Giovanni Coloccia, Sabino Ceci, Angelo Michele Inchingolo, Grazia Marinelli, Giuseppina Malcangi, Valentina Montenegro, Claudia Laudadio, Giulia Palmieri, Ioana Roxana Bordea, Emanuela Ponzi, Paola Orsini, Romina Ficarella, Antonio Scarano, Felice Lorusso, Gianna Dipalma, Massimo Corsalini, Mattia Gentile, Daniela Di Venere, Inchingolo Francesco
Genetic Pattern, Orthodontic and Surgical Management of Multiple Supplementary Impacted Teeth in a Rare, Cleidocranial Dysplasia Patient: A Case Report. Medicina (Kaunas, Lithuania) 57 (12) (2021)
Mattia Gentile, Carlotta Ranieri, Daria C Loconte, Emanuela Ponzi, Romina Ficarella, Paolo Volpe, Gabriele Scalzo, Martina Lepore Signorile, Valentina Grossi, Angela Cordella, Giovanna Maria Ventola, Francesco C Susca, Antonella Turchiano, Cristiano Simone, Nicoletta Resta
Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects. Clinical genetics 99 (3) (2020)
Mattia Gentile, Emanuele Agolini, Dario Cocciadiferro, Romina Ficarella, Emanuela Ponzi, Emanuele Bellacchio, Maria F Antonucci, Antonio Novelli
Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype. Clinical genetics 95 (1) (2018)