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Holly H. Hobart | doi.page

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Holly H. Hobart

Jackson Memorial Hospital(US)University of Mississippi Medical Center(US)Osaka City University(JP)Adult Congenital Heart Association(US)

Publications by Year

Research Areas

Williams Syndrome Research, Genomic variations and chromosomal abnormalities, Congenital heart defects research, Chromosomal and Genetic Variations, Cardiovascular Function and Risk Factors

Most-Cited Works

→ Distribution of non-telomeric sites of the (TTAGGG)n telomeric sequence in vertebrate chromosomes(1990)628 cited
→ GTF2I hemizygosity implicated in mental retardation in Williams syndrome: Genotype–phenotype analysis of five families with deletions in the Williams syndrome region(2003)186 cited
→ Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11(2008)123 cited
→ Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome(2010)84 cited
→ Heat shock protein 27 gene: Chromosomal and molecular location and relationship to Williams syndrome(2003)31 cited
→ Blastopathies and microcephaly in a Chornobyl impacted region of Ukraine(2014)21 cited

→ BAC-FISH refutes report of an 8p22–8p23.1 inversion or duplication in 8 patients with Kabuki syndrome(2006)19 cited

→ Genome Rearrangements Detected by SNP Microarrays in Individuals with Intellectual Disability Referred with Possible Williams Syndrome(2010)15 cited

Bilateral semilunar valve disease in a child with partial deletion of the Williams-Beuren syndrome region is associated with elastin haploinsufficiency.(2006)