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One or more keywords matched the following properties of Del Gaudio, Daniela
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 Diabetes Mellitus, Type 1
Concept Diabetes Mellitus, Type 2
Concept Heart Defects, Congenital
Concept Congenital Hyperinsulinism
Concept Diabetes Mellitus
Concept Hand Deformities, Congenital
Academic Article Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation.
Academic Article Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.
Academic Article Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.
Academic Article Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach.
Academic Article Alu-mediated deletion of PIGL in a Patient with CHIME syndrome.
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 Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals".
Academic Article Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA.
Academic Article GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished 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 Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants.
Academic Article Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes.
Search Criteria
  • congenital
  • diabetes