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Elizabeth Hopkins

Alfred I. duPont Hospital for Children

19

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Assessing genotype–phenotype correlation in Costello syndrome using a severity score

2013 Genetics in Medicine
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Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

2013 American Journal of Human Genetics
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Orthopedic manifestations and implications for individuals with Costello syndrome

2013 American Journal of Medical Genetics Part A
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Transmission of the Rare HRAS Mutation (c. 173C > T; p.T58I) Further Illustrates Its Attenuated Phenotype

2012 American Journal of Medical Genetics Part A
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A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.

2012 American Journal of Medical Genetics Part A
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Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome

2011 American Journal of Medical Genetics Part A
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Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome

2011 American Journal of Medical Genetics Part A
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Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene.

2011 American Journal of Medical Genetics Part A
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Living with Costello syndrome: quality of life issues in older individuals.

2010 American Journal of Medical Genetics Part A
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High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: Brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities†

2010 American Journal of Medical Genetics Part A
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Citations (83)