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Del Gaudio, Daniela
One or more keywords matched the following properties of Del Gaudio, Daniela
PropertyValue
keywords Molecular diagnostics, exome sequencing, array-CGH, CNV detection, monogenic diabetes
overview My main area of interest is the development and implementation of novel molecular technologies to the diagnosis of genetic disorders. Our laboratory provides molecular testing services for a wide variety of indications, including neurodevelopmental and congenital malformation disorders, hereditary forms of cancer and endocrine disorders. We use next-generation sequencing (NGS) techniques, including exome sequencing, as well as algorithms to infer copy number variations from NGS data, for the identification of disease-causing variants. In addition to the implementation of clinical tests, I have an active interest in performing genotype-phenotype correlation studies to better delineate the mutational and phenotypic spectrum of genetic disorders, understanding the underlying molecular mechanisms for novel mutations identified through clinical testing as well as identifying potential novel disease genes. In the past few years, my most significant research contributions stem from my clinical work in the area of monogenic disorders of insulin secretion, specifically monogenic diabetes and congenital hyperinsulinism.
One or more keywords matched the following items that are connected to Del Gaudio, Daniela
Item TypeName
Concept Mutation
Concept Germ-Line Mutation
Concept Point Mutation
Concept Mutation, Missense
Concept Frameshift Mutation
Academic Article Regional genomic instability predisposes to complex dystrophin gene rearrangements.
Academic Article Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype.
Academic Article Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization.
Academic Article Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation.
Academic Article LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining.
Academic Article Detection of clinically relevant exonic copy-number changes by array CGH.
Academic Article Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.
Academic Article Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory.
Academic Article A point mutation in the gene for asparagine-linked glycosylation 10B (Alg10b) causes nonsyndromic hearing impairment in mice (Mus musculus).
Academic Article Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case.
Academic Article Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.
Academic Article A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.
Academic Article Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.
Academic Article FOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
Academic Article Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Academic Article Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants.
Academic Article Update of variants identified in the pancreatic ß-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
Academic Article De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.
Academic Article CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Academic Article Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations.
Academic Article Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.
Academic Article Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants.
Academic Article Germline variants drive myelodysplastic syndrome in young adults.
Academic Article Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes.
Academic Article Novel KDM6A Kabuki Syndrome Mutation With Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension Requiring ECMO.
Academic Article Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
Concept Loss of Function Mutation
Concept Gain of Function Mutation
Search Criteria
  • Mutation
  • detection