Publications by authors named "Luana Mandara"

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Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
Corrine Smolen, Matthew Jensen, Lisa Dyer, Lucilla Pizzo, Anastasia Tyryshkina

Am J Hum Genet· December 2023

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NGS study in a sicilian case series with a genetic diagnosis for Gerstmann-Sträussler-Scheinker syndrome (PRNP, p.P102L).
Michele Salemi, Luana G M Mandarà, Maria Grazia Salluzzo, Francesca A Schillaci, Roberto Castiglione

Mol Biol Rep· November 2023

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Genetic analysis of genes associated with Mendelian dementia.
Astrit Dautaj, Luana Mandarà, Vittorio Tassi, Kristjana Dhuli, Matteo Bertelli

Acta Biomed· November 2020

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Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development.
Michele Iacomino, Simona Baldassari, Yuki Tochigi, Katarzyna Kośla, Francesca Buffelli

Front Neurosci· June 2020

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Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
Lucilla Pizzo, Matthew Jensen, Andrew Polyak, Jill A Rosenfeld, Katrin Mannik

Genet Med· April 2019

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Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.
Francesco Calì, Valeria Chiavetta, Giuseppa Ruggeri, Maria Piccione, Angelo Selicorni

Eur J Med Genet· February 2017

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JAG1 Loss-Of-Function Variations as a Novel Predisposing Event in the Pathogenesis of Congenital Thyroid Defects.
Tiziana de Filippis, Federica Marelli, Gabriella Nebbia, Patrizia Porazzi, Sabrina Corbetta

J Clin Endocrinol Metab· March 2016

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