Publications by authors named "Davide Colavito"

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DDOST-Congenital Disorder of Glycosylation: Defining the Clinical Spectrum and First Report of a Structural Variant.
Giuseppe Reynolds, Ilaria Carelli, Federico Rondot, Stefania Massuras, Veronica Pagliardini, Davide Colavito

Am J Med Genet A· December 2025

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CASP2 biallelic truncating variants: a new case supports the link with lissencephaly/pachygyria and expands the clinical spectrum.
Ilaria Vivaldi, Marco Imperi, Maria Giovanna Tedesco, Elisa Vinciarelli, Eleonora Chiarotto, Davide Colavito

Eur J Hum Genet· November 2025

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Association of IgG4-related disease with human inborn errors of immunity.
Veronica Batani, Elisa Benetti, Claudia Minici, Jasmin Mahajne, Filippo Segala, Davide Colavito

Rheumatology (Oxford)· November 2025

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Burden of pathogenetic and likely pathogenetic variants in SPG7, SPG11 and AP4 genes in Amyotrophic Lateral Sclerosis. A case-control study.
Paolo Niccolò Doronzio, Serena Lattante, Daniela Bernardo, Agata Katia Patanella, Giulia Bisogni, Davide Colavito

J Neurol· June 2025

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Expanding the VEXAS diagnostic workup: the role of peripheral blood cytological analysis.
Chiara Baggio, Francesca Oliviero, Roberto Padoan, Luca Iorio, Riccardo Bixio, Davide Colavito

Front Immunol· October 2024

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A novel STING variant triggers endothelial toxicity and SAVI disease.
Erika Valeri, Sara Breggion, Federica Barzaghi, Monah Abou Alezz, Giovanni Crivicich, Davide Colavito

J Exp Med· September 2024

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A New De Novo Missense Variant of the Gene in a Patient with Epilepsy and Macrocephaly.
Miryam Rosa Stella Foti, Maria Giovanna Tedesco, Davide Colavito, Daniela Rogaia, Amedea Mencarelli

Int J Mol Sci· September 2024

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Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication.
Laura Libonati, Chiara Cambieri, Davide Colavito, Federica Moret, Edoardo D'Andrea

J Neurol· April 2024

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Delayed Bone Age in a Child with a Novel Loss-of-Function Variant in Gene Sheds Light on the Potential Role of SETBP1 Protein in Skeletal Development.
Gianmaria Miolo, Davide Colavito, Lara Della Puppa, Giuseppe Corona

Mol Syndromol· March 2024

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Multiple melanomas in ichthyosis with confetti: One more piece of evidence.
Italo Francesco Aromolo, Chiara Moltrasio, Luca Cozzaglio, Davide Colavito, Alberta Leon

Australas J Dermatol· November 2023

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haploinsufficiency: case series and literature review.
Gianluca Dini, Alberto Verrotti, Paolo Gorello, Luca Soliani, Duccio Maria Cordelli, Davide Colavito

Front Pediatr· October 2023

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IRF2BPL: A new genotype for progressive myoclonus epilepsies.
Cinzia Costa, Karen L Oliver, Carmen Calvello, Jillian M Cameron, Valentina Imperatore, Davide Colavito

Epilepsia· August 2023

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Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in Gene.
Chiara Moltrasio, Maurizio Romagnuolo, Davide Riva, Davide Colavito, Silvia Mariel Ferrucci

Genes (Basel)· May 2023

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Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent Gene Variants and Correlations with Neurocognitive Phenotype.
Filomena Napolitano, Milena Dell'Aquila, Chiara Terracciano, Giuseppina Franzese, Maria Teresa Gentile, Davide Colavito

Genes (Basel)· June 2022

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A novel homozygous mutation in TBK1 gene causing ALS-FTD.
Laura Libonati, Marco Ceccanti, Chiara Cambieri, Davide Colavito, Federica Moret

Neurol Sci· March 2022

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Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
Katrine M Johannesen, Elena Gardella, Cathrine E Gjerulfsen, Allan Bayat, Rob P W Rouhl, Davide Colavito

Neurol Genet· December 2021

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Case Report: Intestinal Nodular Lymphoid Hyperplasia as First Manifestation of Activated PI3Kδ Syndrome Due to a Novel Variant.
Antonio Marzollo, Silvia Bresolin, Davide Colavito, Alice Cani, Paola Gaio

Front Pediatr· October 2021

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IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.
Mara Cananzi, Elizabeth Wohler, Antonio Marzollo, Davide Colavito, Jing You

Hum Genet· September 2021

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Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis.
Serena Lattante, Paolo Niccolò Doronzio, Amelia Conte, Giuseppe Marangi, Francesco Martello, Davide Colavito

Hum Mol Genet· March 2021

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Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease.
Luca Bosa, Vritika Batura, Davide Colavito, Karoline Fiedler, Paola Gaio

Sci Rep· March 2021

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A novel exomal ATRX mutation with preferential transmission to offspring: A case report and review of the literature for transmission ratio distortion in ATRX families.
Mariano Stabile, Davide Colavito, Elda Del Giudice, Anna F Rispoli, Marina C Ingenito

Mol Med Rep· December 2020

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A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile.
Marianna Farnè, Giovanna M Tedesco, Chiara Bedetti, Amedea Mencarelli, Daniela Rogaia, Davide Colavito

Am J Med Genet A· October 2020

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Expanding the spectrum of SPTLC1-related disorders beyond hereditary sensory and autonomic neuropathies: A novel case of the distinct "S331 syndrome".
Fabiana Rossi, Giorgia Bruno, Mario Fratta, Davide Colavito, Sara Casertano

J Peripher Nerv Syst· September 2020

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Successful fenofibrate therapy for severe and persistent hypertriglyceridemia in a boy with cirrhosis and glycerol-3-phosphate dehydrogenase 1 deficiency.
Lorenza Matarazzo, Valentina Ragnoni, Cristina Malaventura, Alberta Leon, Davide Colavito

JIMD Rep· July 2020

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Corrigendum to "A novel missense mutation in CAV3 gene in an Italian family with persistent hyperCKemia, myalgia and hypercholesterolemia: Double-trouble" [Clin. Neurol. Neurosurg. 191 (2020) 105687].
Giorgia Bruno, Gianfranco Puoti, Mariano Oliva, Davide Colavito, Lia Allegorico

Clin Neurol Neurosurg· April 2020

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