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Frontiers in Pediatrics|January 31, 2022
Diagnostic Approach to Macrocephaly in ChildrenAndrea Accogli, Ana Filipa Geraldo, Gianluca Piccolo, et al.
European Journal of Human Genetics : EJHG|April 3, 2019
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled femalesMarcello Scala, Annalaura Torella, Mariasavina Severino, et al.
Neuroradiology|June 7, 2022
Imaging characteristics and neurosurgical outcome in subjects with agenesis of the corpus callosum and interhemispheric cystsMariasavina Severino, Domenico Tortora, Catriona Reid, et al.
American Journal of Medical Genetics. Part A|March 27, 2020
Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entityMargaux Serey-Gaut, Marcello Scala, Bruno Reversade, et al.
Biomedicines|January 20, 2021
Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in <i>KCNA1</i> Impairing the Voltage Sensitivity of Kv1.1 ChannelPaola Imbrici, Andrea Accogli, Rikard Blunck, et al.
International Journal of Molecular Sciences|April 30, 2021
Biallelic Variants in <i>KIF17</i> Associated with Microphthalmia and Coloboma SpectrumAntonella Riva, Antonella Gambadauro, Valeria Dipasquale, et al.
European Journal of Human Genetics : EJHG|April 18, 2018
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastomaValentina Imperatore, Anna Maria Pinto, Elisa Gelli, et al.
European Journal of Human Genetics : EJHG|March 12, 2024
A second hotspot for pathogenic exon-skipping variants in CDC45Kelly Schoch, Mischa S G Ruegg, Bridget J Fellows, et al.
The Journal of Clinical Endocrinology and Metabolism|July 26, 2022
Clinical, Endocrine and Neuroimaging Findings in Girls With Central Precocious PubertyDaniela Fava, Andrea Calandrino, Maria Grazia Calevo, et al.
European Journal of Human Genetics : EJHG|June 24, 2021
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric featuresMaha S Zaki, Andrea Accogli, Ghayda Mirzaa, et al.
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