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Author Details

Francesca Clementina Radio
Ospedale Pediatrico Bambino Gesu IRCCS
2009
64
16
PMIDPaper TitleJournal TitlePublished Year
36224108Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.Clin Genet2023
37636262Case Report: Sequential postzygotic <i>HRAS</i> mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving <i>HRAS</i> in oncogenic transformation.Front Genet2023
37521304Case report: Expanding the phenotype of <i>FOXP1</i>-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures.Front Neurol2023
37975990Bayesian cost-effectiveness analysis of Whole genome sequencing versus Whole exome sequencing in a pediatric population with suspected genetic disorders.Eur J Health Econ2023
37059841Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.Eur J Hum Genet2023
36980822Prenatal Clinical Findings in <i>RASA1</i>-Related Capillary Malformation-Arteriovenous Malformation Syndrome.Genes (Basel)2023
37373888Organizational Aspects of the Implementation and Use of Whole Genome Sequencing and Whole Exome Sequencing in the Pediatric Population in Italy: Results of a Survey.J Pers Med2023
37231492Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment.Arch Public Health2023
37398376Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorder.medRxiv2023
36681873A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.Genet Med2023
36734411Natural history of MRAS-related Noonan syndrome: Evidence of mild adult-onset left ventricular hypertrophy and neuropsychiatric features.Am J Med Genet C Semin Med Genet2023
36824420Case report: Novel compound heterozygosity for pathogenic variants in <i>MED23</i> in a syndromic patient with postnatal microcephaly.Front Neurol2023
36018820Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.Hum Mol Genet2023
33323470Functional analysis of <i>TLK2</i> variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.J Med Genet2022
35772801Brain Abnormalities in Patients with Germline Variants in <i>H3F3</i>: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors.AJNR Am J Neuroradiol2022
35616059Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.Clin Genet2022
35396703SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction.Clin Genet2022
35627274Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants.Genes (Basel)2022
36421837Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying <i>NSD1</i> Variants.Genes (Basel)2022
35872606Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.Am J Med Genet C Semin Med Genet2022
36369169Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.Nat Commun2022
35317923Incremental net benefit of whole genome sequencing for newborns and children with suspected genetic disorders: Systematic review and meta-analysis of cost-effectiveness evidence.Health Policy2022
34906488Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.Genet Med2022
32788663Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications.Eur J Hum Genet2021
33596411SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.Am J Hum Genet2021
33568805When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort.Genet Med2021
33675273Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review.Am J Med Genet A2021
33645542Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.J Clin Invest2021
34440382Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the <i>CEP85L</i> Gene: A Case Report and Refining of the Phenotypic Spectrum.Genes (Basel)2021
34573299Epilepsy and <i>BRAF</i> Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.Genes (Basel)2021
34626534SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.Am J Hum Genet2021
34159694Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes.Am J Med Genet A2021
34042254TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.Am J Med Genet A2021
34206215Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature.Genes (Basel)2021
34202629Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.Genes (Basel)2021
32424177Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.Genet Med2020
33076433A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy.Int J Mol Sci2020
33268356Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients.Sci Adv2020
32592741Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant).Immunol Lett2020
32985083PPP1R21-related syndromic intellectual disability: Report of an adult patient and review.Am J Med Genet A2020
32721402Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.Am J Hum Genet2020
32415735Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.Clin Genet2020
32334637Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders.Orphanet J Rare Dis2020
32197075Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.Am J Hum Genet2020
32483341A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.Eur J Hum Genet2020
32369449Deficiency of MFSD7c results in microcephaly-associated vasculopathy in Fowler syndrome.J Clin Invest2020
31136090POGZ-related epilepsy: Case report and review of the literature.Am J Med Genet A2019
30825388NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations.Hum Mutat2019
28902392Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review.Clin Genet2018
30244530Small 4p16.3 deletions: Three additional patients and review of the literature.Am J Med Genet A2018
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Elisabetta Flex
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Release 1.2