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Molecular Neurobiology|May 31, 2022
Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological CiliogenesisGiulia Napoli, Noemi Panzironi, Alice Traversa, et al.
British Journal of Haematology|June 26, 2023
Additional lesions identified by genomic microarrays are associated with an inferior outcome in low-risk chronic lymphocytic leukaemia patientsGian Matteo Rigolin, Alice Traversa, Viviana Caputo, et al.
Amino Acids|March 19, 2020
Prenatal expression of D-aspartate oxidase causes early cerebral D-aspartate depletion and influences brain morphology and cognitive functions at adulthoodArianna De Rosa, Francesca Mastrostefano, Anna Di Maio, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 30, 2024
Biallelic Variants of MRPS36 Cause a New Form of Leigh SyndromeSerena Galosi, Cecilia Mancini, Anna Commone, et al.
Molecular Psychiatry|March 5, 2021
Sialylated human milk oligosaccharides program cognitive development through a non-genomic transmission modeJonas Hauser, Edoardo Pisa, Alejandro Arias Vásquez, et al.
Nature Communications|August 19, 2023
APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variantsSalvatore Daniele Bianco, Luca Parca, Francesco Petrizzelli, et al.
Journal of Cardiovascular Development and Disease|September 26, 2021
Potential Role of eNOS Genetic Variants in Ischemic Heart Disease Susceptibility and Clinical PresentationPaolo Severino, Andrea D'Amato, Silvia Prosperi, et al.
Journal of the Neurological Sciences|July 6, 2015
Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibsRaffaella Di Giacopo, Luciano Cianetti, Viviana Caputo, et al.
American Journal of Medical Genetics. Part A|April 26, 2016
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examplesElisa Giorgio, Andrea Ciolfi, Elisa Biamino, et al.
Molecular Genetics & Genomic Medicine|June 11, 2020
Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritanceAlice Traversa, Enrica Marchionni, Agnese Giovannetti, et al.
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