The University of Chicago Header Logo

Search Result Details

This page shows the details of why an item matched the keywords from your search.
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 Alleles
Concept Base Sequence
Concept Genes, Recessive
Concept Molecular Sequence Data
Concept Repetitive Sequences, Nucleic Acid
Concept Sequence Analysis, DNA
Concept Sequence Deletion
Concept Transgenes
Concept Exome
Concept Oligonucleotide Array Sequence Analysis
Concept High-Throughput Nucleotide Sequencing
Concept Genome, Human
Concept Polymorphism, Single Nucleotide
Concept Genetic Loci
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 Detection of clinically relevant exonic copy-number changes by array CGH.
Academic Article Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.
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 A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.
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 Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Academic Article Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange 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 Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants.
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 Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes.
Academic Article Exome sequencing identifies PD-L2 as a potential predisposition gene for lymphoma.
Concept Whole Genome Sequencing
Search Criteria
  • Exome
  • sequencing