Marco Tartaglia

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS

Affiliated withOspedale Pediatrico Bambino Gesù, IRCCS

Research Area

Biography

Marco Tartaglia has not added Biography.
If you are Marco Tartaglia and would like to personalize this page please email our Author Liaison for assistance.

JoVE Journal Publications

ArticleTotal : 2	Year
Publication title	2020
Publication title	2025

Other Publications

Article	Year
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy. American journal of human genetics\| PubMed ID: 27040692	2016
SHOC2 subcellular shuttling requires the KEKE motif-rich region and N-terminal leucine-rich repeat domain and impacts on ERK signalling. Human molecular genetics\| PubMed ID: 27466182	2016
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy. American journal of human genetics\| PubMed ID: 27666369	2016
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy. American journal of human genetics\| PubMed ID: 27666370	2016
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. American journal of human genetics\| PubMed ID: 29394990	2018
Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies. Archives of oral biology\| PubMed ID: 29705498	2018
Biallelic mutations in early-onset, variably progressive neurodegeneration. Neurology\| PubMed ID: 29959261	2018
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome. American journal of human genetics\| PubMed ID: 30290154	2018
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome. American journal of human genetics\| PubMed ID: 31130282	2019
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. American journal of human genetics\| PubMed ID: 31447100	2019
Prevalence, Type, and Molecular Spectrum of Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease. Genes\| PubMed ID: 31487937	2019
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function. The Journal of experimental medicine\| PubMed ID: 31601675	2019
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature. Clinical epigenetics\| PubMed ID: 31910894	2020
Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism. Parkinsonism & related disorders\| PubMed ID: 32120303	2020
Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data. American journal of medical genetics. Part A\| PubMed ID: 26227443	2015
Distinct Acute Lymphoblastic Leukemia (ALL)-associated Janus Kinase 3 (JAK3) Mutants Exhibit Different Cytokine-Receptor Requirements and JAK Inhibitor Specificities. The Journal of biological chemistry\| PubMed ID: 26446793	2015
HIPK2-T566 autophosphorylation diversely contributes to UV- and doxorubicin-induced HIPK2 activation. Oncotarget\| PubMed ID: 28060750	2017
The sixth international RASopathies symposium: Precision medicine-From promise to practice. American journal of medical genetics. Part A\| PubMed ID: 31825160	2020
No metagenomic evidence of tumorigenic viruses in cancers from a selected cohort of immunosuppressed subjects. Scientific reports\| PubMed ID: 31875016	2019
Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant). Immunology letters\| PubMed ID: 32592741	2020
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment. American journal of human genetics\| PubMed ID: 33186545	2020
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl/H-Exchanger, Causes Early-Onset Neurodegeneration. American journal of human genetics\| PubMed ID: 33217309	2020
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling. American journal of human genetics\| PubMed ID: 33308444	2021
Functional analysis of variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis. Journal of medical genetics\| PubMed ID: 33323470	2022
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort. Genetics in medicine : official journal of the American College of Medical Genetics\| PubMed ID: 33568805	2021
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. American journal of human genetics\| PubMed ID: 33596411	2021
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes. American journal of medical genetics. Part A\| PubMed ID: 34159694	2021
Visual Function and Ophthalmological Findings in CHARGE Syndrome: Revision of Literature, Definition of a New Clinical Spectrum and Genotype Phenotype Correlation. Genes\| PubMed ID: 34202106	2021
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile. Clinical epigenetics\| PubMed ID: 34380541	2021
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype. American journal of human genetics\| PubMed ID: 34626534	2021
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency. Genetics in medicine : official journal of the American College of Medical Genetics\| PubMed ID: 34906488	2022
Mutations at the C-terminus of CDC42 cause distinct hematopoietic and autoinflammatory disorders. The Journal of allergy and clinical immunology\| PubMed ID: 35157921	2022
Incremental net benefit of whole genome sequencing for newborns and children with suspected genetic disorders: Systematic review and meta-analysis of cost-effectiveness evidence. Health policy (Amsterdam, Netherlands)\| PubMed ID: 35317923	2022
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish. Nature communications\| PubMed ID: 36369169	2022
Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants. European journal of human genetics : EJHG\| PubMed ID: 37059841	2023
Defective peripheral B cell selection in common variable immune deficiency patients with autoimmune manifestations. Cell reports\| PubMed ID: 37119135	2023
Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment. Archives of public health = Archives belges de sante publique\| PubMed ID: 37231492	2023
Organizational Aspects of the Implementation and Use of Whole Genome Sequencing and Whole Exome Sequencing in the Pediatric Population in Italy: Results of a Survey. Journal of personalized medicine\| PubMed ID: 37373888	2023
Identification of a robust DNA methylation signature for Fanconi anemia. American journal of human genetics\| PubMed ID: 37865086	2023
Bayesian cost-effectiveness analysis of Whole genome sequencing versus Whole exome sequencing in a pediatric population with suspected genetic disorders. The European journal of health economics : HEPAC : health economics in prevention and care\| PubMed ID: 37975990	2024
Cost-Effectiveness of Whole-Genome vs Whole-Exome Sequencing Among Children With Suspected Genetic Disorders. JAMA network open\| PubMed ID: 38277144	2024
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy. American journal of human genetics\| PubMed ID: 38423010	2024
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism. European journal of human genetics : EJHG\| PubMed ID: 38528056	2024
Assessment of the FRET-based Teen sensor to monitor ERK activation changes preceding morphological defects in a RASopathy zebrafish model and phenotypic rescue by MEK inhibitor. Molecular medicine (Cambridge, Mass.)\| PubMed ID: 38594640	2024
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis. European journal of human genetics : EJHG\| PubMed ID: 38824261	2024
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline. American journal of human genetics\| PubMed ID: 39116879	2024
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules. Genetics in medicine : official journal of the American College of Medical Genetics\| PubMed ID: 39140257	2024
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function. HGG advances\| PubMed ID: 39210597	2024
Brain malformations and seizures by impaired chaperonin function of TRiC. Science (New York, N.Y.)\| PubMed ID: 39480921	2024
Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants. European journal of human genetics : EJHG\| PubMed ID: 40011755	2025