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..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...
- 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