Gail E Herman

Summary

Affiliation: Columbus Children's Research Institute
Country: USA

Publications

  1. ncbi request reprint Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly
    Gail E Herman
    Center for Molecular and Human Genetics, Columbus Children Research Institute, The Ohio State University, Columbus, Ohio, USA
    Am J Med Genet A 143:589-93. 2007
  2. ncbi request reprint Genetic testing in autism: how much is enough?
    Gail E Herman
    Center for Molecular and Human Genetics, Columbus Children s Research Institute, Columbus, Ohio 43205, USA
    Genet Med 9:268-74. 2007
  3. doi request reprint Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly
    Kim L McBride
    Center for Molecular and Human Genetics, Research Institute at Nationwide Children s Hospital, Columbus, Ohio 43205, USA
    Autism Res 3:137-41. 2010
  4. pmc Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse
    David Cunningham
    The Research Institute at Nationwide Children s Hospital, Columbus, OH 43205, USA
    Mol Genet Metab 98:356-66. 2009
  5. doi request reprint The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly
    Elizabeth A Varga
    Center for Molecular and Human Genetics, The Research Institute at Nationwide Children s Hospital, Columbus, Ohio 43205, USA
    Genet Med 11:111-7. 2009
  6. pmc Contactin 4 as an autism susceptibility locus
    Catherine E Cottrell
    Department of Pathology and Laboratory Medicine, Nationwide Children s Hospital, Columbus, Ohio, USA
    Autism Res 4:189-99. 2011
  7. pmc Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos
    David Cunningham
    Department of Pediatrics, The Research Institute at Nationwide Children s Hospital, The Ohio State University, Columbus, OH 43205, USA
    Hum Mol Genet 19:364-73. 2010
  8. ncbi request reprint Changes in gene expression associated with loss of function of the NSDHL sterol dehydrogenase in mouse embryonic fibroblasts
    David Cunningham
    Center for Molecular and Human Genetics, Columbus Children s Research Institute, Ohio State University, Columbus, OH, USA
    J Lipid Res 46:1150-62. 2005
  9. ncbi request reprint Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast
    Marsha E Lucas
    Department of Pediatrics, Center for Molecular and Human Genetics, Columbus Children s Research Institute, 700 Children s Dr Rm W403, Columbus, OH 43205, USA
    Mol Genet Metab 80:227-33. 2003
  10. ncbi request reprint Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome)
    Gail E Herman
    Children s Research Institute and Department of Pediatrics, The Ohio State University, Columbus, Ohio 43205, USA
    Genet Med 4:434-8. 2002

Collaborators

Detail Information

Publications13

  1. ncbi request reprint Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly
    Gail E Herman
    Center for Molecular and Human Genetics, Columbus Children Research Institute, The Ohio State University, Columbus, Ohio, USA
    Am J Med Genet A 143:589-93. 2007
    ..Our findings extend those of Butler et al. and suggest that PTEN gene sequencing should be included in the genetic evaluation of this subset of autistic individuals...
  2. ncbi request reprint Genetic testing in autism: how much is enough?
    Gail E Herman
    Center for Molecular and Human Genetics, Columbus Children s Research Institute, Columbus, Ohio 43205, USA
    Genet Med 9:268-74. 2007
    ..To evaluate the yield of genetic testing in children with autism spectrum disorders...
  3. doi request reprint Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly
    Kim L McBride
    Center for Molecular and Human Genetics, Research Institute at Nationwide Children s Hospital, Columbus, Ohio 43205, USA
    Autism Res 3:137-41. 2010
    ..We recommend testing for mutations in PTEN for individuals with ASD or MR/DD and macrocephaly. If mutations are found, other family members should be offered testing and the adults offered cancer screening if they have a PTEN mutation...
  4. pmc Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse
    David Cunningham
    The Research Institute at Nationwide Children s Hospital, Columbus, OH 43205, USA
    Mol Genet Metab 98:356-66. 2009
    ..Our results suggest that while NSDHL-deficient cells in the mosaic Bpa(1H) female are able to survive and differentiate during embryonic development, they are subject to negative selection over the life of the animal...
  5. doi request reprint The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly
    Elizabeth A Varga
    Center for Molecular and Human Genetics, The Research Institute at Nationwide Children s Hospital, Columbus, Ohio 43205, USA
    Genet Med 11:111-7. 2009
    ..To define the prevalence of PTEN mutations in a clinical cohort of pediatric subjects with autism spectrum disorders (ASDs), developmental delay/mental retardation (DD/MR), and/or macrocephaly and to assess genotype-phenotype correlations...
  6. pmc Contactin 4 as an autism susceptibility locus
    Catherine E Cottrell
    Department of Pathology and Laboratory Medicine, Nationwide Children s Hospital, Columbus, Ohio, USA
    Autism Res 4:189-99. 2011
    ..Thus, additional larger studies will be necessary to determine whether CNTN4 functions as an autism susceptibility locus in combination with other genetic and/or environmental factors...
  7. pmc Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos
    David Cunningham
    Department of Pediatrics, The Research Institute at Nationwide Children s Hospital, The Ohio State University, Columbus, OH 43205, USA
    Hum Mol Genet 19:364-73. 2010
    ..283 mm(2); P = 0.024). These data demonstrate significant effects of the mother and fetal membranes on pregnancy outcome, with possible implications for cholesterol homeostasis during human pregnancy...
  8. ncbi request reprint Changes in gene expression associated with loss of function of the NSDHL sterol dehydrogenase in mouse embryonic fibroblasts
    David Cunningham
    Center for Molecular and Human Genetics, Columbus Children s Research Institute, Ohio State University, Columbus, OH, USA
    J Lipid Res 46:1150-62. 2005
    ..Of the 21 remaining genes, 16 are known genes, some of which have been implicated previously in cholesterol homeostasis or lipid-mediated signaling, and 5 are uncharacterized cDNA clones...
  9. ncbi request reprint Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast
    Marsha E Lucas
    Department of Pediatrics, Center for Molecular and Human Genetics, Columbus Children s Research Institute, 700 Children s Dr Rm W403, Columbus, OH 43205, USA
    Mol Genet Metab 80:227-33. 2003
    ..Using this in vivo assay, we have demonstrated that two Str alleles function as hypomorphs, while three Bpa and one Str allele provide no complementation or rescue...
  10. ncbi request reprint Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome)
    Gail E Herman
    Children s Research Institute and Department of Pediatrics, The Ohio State University, Columbus, Ohio 43205, USA
    Genet Med 4:434-8. 2002
    ..The purpose of the current study was to determine the spectrum of EBP mutations in females with CDPX2 and the utility of biochemical screening for the disorder by analysis of plasma sterols...
  11. ncbi request reprint Characterization of mutations in fifty North American patients with X-linked myotubular myopathy
    Gail E Herman
    Children s Research Institute and The Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA
    Hum Mutat 19:114-21. 2002
    ..Clinical information collected on the majority of patients helps to further correlate genotype with phenotype, and implications of these data for genetic counseling in families are discussed...
  12. ncbi request reprint Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene
    Marybeth Hummel
    Department of Pediatrics, West Virginia University School of Medicine, Morgantown, WV, USA
    Am J Med Genet A 122:246-51. 2003
    ..This result demonstrates that both right- and left-sided CHILD syndrome can be caused by mutations in the same gene...
  13. ncbi request reprint Exclusion of mutations in the MTMR1 gene as a frequent cause of X-linked myotubular myopathy
    LaRae M Copley
    Am J Med Genet 107:256-8. 2002