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L. Mandarà · SciRah

Researcher profile · Semantic Scholar

L. Mandarà

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L. Mandarà — researcher profile on SciRah

h-index: 5
Works: 9
Citations: 273

Most-cited papers

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
Lucilla Pizzo, Matthew Jensen, Andrew Polyak, J. Rosenfeld +52 more
2018Genetics in Medicine156 citations Open access
Semantic Scholar
JAG1 Loss-Of-Function Variations as a Novel Predisposing Event in the Pathogenesis of Congenital Thyroid Defects.
T. De Filippis, F. Marelli, G. Nebbia, P. Porazzi +14 more
2016Journal of Clinical Endocrinology and Metabolism57 citations Open access
Semantic Scholar
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development
M. Iacomino, S. Baldassari, Y. Tochigi, K. Kośla +17 more
2020Frontiers in Neuroscience30 citations Open access
Semantic Scholar
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
Elisa Calì, Sheng-Jia Lin, C. Rocca, Y. Sahin +163 more
2022Genetics in Medicine17 citations Open access
Semantic Scholar
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
Vincenzo Salpietro, R. Maroofian, M. Zaki, J. Wangen +187 more
2023American Journal of Human Genetics7 citations Open access
Semantic Scholar
Genetic analysis of genes associated with Mendelian dementia
A. Dautaj, L. Mandarà, V. Tassi, K. Dhuli +1 more
2020Acta bio-medica : Atenei Parmensis4 citations
Semantic Scholar
NGS study in a sicilian case series with a genetic diagnosis for Gerstmann-Sträussler-Scheinker syndrome (PRNP, p.P102L)
Michele Salemi, L. Mandarà, M. G. Salluzzo, F. Schillaci +6 more
2023Molecular Biology Reports1 citations
Semantic Scholar
Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders
Lucilla Pizzo, Matthew Jensen, Andrew Polyak, J. Rosenfeld +52 more
2018bioRxiv1 citations Open access
Semantic Scholar
Molecular characterization of the First Italian Variant of Phosphoglycerate Kinase Deficiency
P. Bianchi, E. Fermo, L. Mandarà, C. Vercellati +4 more
20110 citations
Semantic Scholar

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P. Prontera×3
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P. Prontera — researcher profile on SciRah
Lucilla Pizzo×2
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Lucilla Pizzo — researcher profile on SciRah
Matthew Jensen×2
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Matthew Jensen — researcher profile on SciRah
Andrew Polyak×2
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Andrew Polyak — researcher profile on SciRah

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