Luciana Musante

Publication Activity (10 Years)

Years Active: 2022-2023
Publications (10 Years): 8

Top Topics

Autism Spectrum Disorder

Tyrosine Kinase

Intellectual Disability

Top Venues

American journal of medical genetics. Part A

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

Publications

Mariateresa Di Stazio, Caterina Zanus, Flavio Faletra, Alessia Pesaresi, Ilaria Ziccardi, Anna Morgan, Giorgia Girotto, Paola Costa, Marco Carrozzi, Adamo Pio D'Adamo, Luciana Musante
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B -Associated Disorders. Genes 14 (2) (2023)
Mariateresa Di Stazio, Caterina Zanus, Flavio Faletra, Alessia Pesaresi, Ilaria Ziccardi, Anna Morgan, Giorgia Girotto, Paola Costa, Marco Carrozzi, Adamo Pio D'Adamo, Luciana Musante
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B -Associated Disorders. Genes 14 (2) (2023)
Mariateresa Di Stazio, Caterina Zanus, Flavio Faletra, Alessia Pesaresi, Ilaria Ziccardi, Anna Morgan, Giorgia Girotto, Paola Costa, Marco Carrozzi, Adamo Pio D'Adamo, Luciana Musante
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B -Associated Disorders. Genes 14 (2) (2023)
Mariateresa Di Stazio, Caterina Zanus, Flavio Faletra, Alessia Pesaresi, Ilaria Ziccardi, Anna Morgan, Giorgia Girotto, Paola Costa, Marco Carrozzi, Adamo Pio D'Adamo, Luciana Musante
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B -Associated Disorders. Genes 14 (2) (2023)
Luciana Musante, Flavio Faletra, Kolja Meier, Hoda Tomoum, Paria Najarzadeh Torbati, Edward Blair, Sally North, Jutta Gärtner, Susann Diegmann, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Ehsan Ghayoor Karimiani, David P Murphy, Flora Maria Murru, Caterina Zanus, Andrea Magnolato, Martina La Bianca, Agnese Feresin, Giorgia Girotto, Paolo Gasparini, Paola Costa, Marco Carrozzi
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition. American journal of medical genetics. Part A 188 (9) (2022)
Luciana Musante, Paola Costa, Caterina Zanus, Flavio Faletra, Flora Maria Murru, Anna Monica Bianco, Martina La Bianca, Giulia Ragusa, Emmanouil Athanasakis, Adamo Pio D'Adamo, Marco Carrozzi, Paolo Gasparini
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge. Genes 13 (3) (2022)
Alessandro Orsini, Andrea Santangelo, Francesca Bravin, Alice Bonuccelli, Diego Giampietro Peroni, Roberta Battini, Thomas Foiadelli, Veronica Bertini, Angelo Valetto, Michele Iacomino, Vincenzo Nigro, Anna Laura Torella, Marcello Scala, Valeria Capra, Maria Stella Vari, Anna Fetta, Veronica Di Pisa, Francesca Montanari, Roberta Epifanio, Paolo Bonanni, Roberto Giorda, Francesca Felicia Operto, Grazia Maria Giovanna Pastorino, Esra Sarigecili, Esra Sardaroglu, Cetin Okuyaz, Sevgan Bozdogan, Luciana Musante, Flavio Faletra, Caterina Zanus, Alessandro Ferretti, Federico Vigevano, Pasquale Striano, Duccio Maria Cordelli
Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients. Genes 13 (2) (2022)
Beatrice Spedicati, Anna Morgan, Giulia Pianigiani, Luciana Musante, Elisa Rubinato, Aurora Santin, Giuseppe Giovanni Nardone, Flavio Faletra, Giorgia Girotto
Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures. Genes 13 (11) (2022)