Publications by authors named "M Iascone"

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Maria Iascone

Am J Hum Genet· November 2025

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Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.
Laura Planas-Serra, Mar Rodríguez-Ruiz, Eric Nathaniel Anderson, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, Maria Iascone

Am J Hum Genet· November 2025

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Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies-30 Years' Experience From a Third Level Center.
Giulia Bruna Marchetti, Erica Rosina, Camilla Meossi, Michela Mura, Lidia Pezzani, Maria Iascone

Clin Genet· November 2025

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Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study.
Eleonora Bonaventura, Fabio Bruschi, Luisella Alberti, Clara Antonello, Filippo Arrigoni, Maria Iascone

Int J Neonatal Screen· September 2025

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A novel deep intronic mutation expands the genotype spectrum of MYH7-related myopathies.
Andrea Barp, Luca Maria Neri, Lorenzo Maggi, Maria Iascone, Francesca Gualandi

Acta Myol· September 2025

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