Gail E Herman
Affiliation: Columbus Children's Research Institute
- Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephalyGail 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...
- 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...
- Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephalyKim 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...
- Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouseDavid 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...
- The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephalyElizabeth 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...
- Contactin 4 as an autism susceptibility locusCatherine 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...
- Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryosDavid 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...
- Changes in gene expression associated with loss of function of the NSDHL sterol dehydrogenase in mouse embryonic fibroblastsDavid 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...
- Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeastMarsha 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...
- 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..No clear genotype/phenotype correlations were ascertained, probably because phenotypic expression is influenced substantially by the pattern of X-inactivation in an affected female...
- Characterization of mutations in fifty North American patients with X-linked myotubular myopathyGail 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...
- Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL geneMarybeth 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...
- Exclusion of mutations in the MTMR1 gene as a frequent cause of X-linked myotubular myopathyLaRae M Copley
Am J Med Genet 107:256-8. 2002