Professor of Pediatrics, Ohio State University
Medical Genetics
Dr. Gail E. Herman, MD
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Gail Herman practices Medical Genetics. She researched medicine at Duke University School of Medicine. Duke University School of Medicine is a one of the best medicals schools. Duke University School of Medicine is ranked 8 in research and 29 in primary care medicine She received 1 awards: "Regional Top Doctor". Gail Herman is a published MD as well. She has 92 publications published. The latest was: Medical complications in long-term survivors with X-linked myotubular myopathy.
Publications
- Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS deve...
- Reporting genomic secondary findings: ACMG members weigh in.
- ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination.
- Analysis of two candidate genes for Basan syndrome.
- Family-Based Clinical Associations and Functional Characterization of the Serotonin 2A Receptor Gene (HTR2A) in Autism Spectrum Disorder.
- Targeting C4-Demethylating Genes in the Cholesterol Pathway Sensitizes Cancer Cells to EGF Receptor Inhibitors via Increased EGF Receptor Degradation.
- Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay.
- Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
- Contactin 4 as an autism susceptibility locus.
- Malformation syndromes caused by disorders of cholesterol synthesis.
- Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
- Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly.
- A tale of two deletions: a report of two novel 20p13 --> pter deletions.
- Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse.
- The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.
- Genetic testing in autism: how much is enough?
- Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.
- Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.
- Pbx1 and Meis1 regulate activity of the Xenopus laevis Zic3 promoter through a highly conserved region.
- Changes in gene expression associated with loss of function of the NSDHL sterol dehydrogenase in mouse embryonic fibroblasts.
- Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H Steroid Dehydrogenase-like (NSDHL) Enzyme.
- Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene.
- Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast.
- Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome).
- exma: an X-linked insertional mutation that disrupts forebrain and eye development.
- Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.
- Exclusion of mutations in the MTMR1 gene as a frequent cause of X-linked myotubular myopathy.
- Mouse models of human disease: lessons learned and promises to come.
- Comparative mapping on the mouse and human X chromosomes of a human cDNA clone encoding the vasopressin renal-type receptor (AVP2R).
- Long-term expression of human argininosuccinate synthetase in mice following bone marrow transplantation with retrovirus-transduced hematopoietic stem cells.
- D-2-hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction.
- The construction of human somatic cell hybrids containing portions of the mouse X chromosome and their use to generate DNA probes via interspersed repetitive sequence ...
- Gender differences in age effect on brain atrophy measured by magnetic resonance imaging.
- Dipeptidyl peptidase-4 inhibitors administered in combination with metformin result in an additive increase in the plasma concentration of active GLP-1.
- Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus. A cause of postpartum coma.
- Recycling of synaptic vesicle membrane components.
- Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos.
- NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets.
- Analysis of Nsdhl-deficient embryos reveals a role for Hedgehog signaling in early placental development.
- Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes.
- Comparative mapping on the mouse X chromosome defines a myotubular myopathy equivalent region.
- Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy.
- Medical complications in long-term survivors with X-linked myotubular myopathy.
- Refined mapping of caltractin in human Xq28 and in the homologous region of the mouse X chromosome places the gene within the bare patches (Bpa) and striated (Str) cri...
- The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase.
- Lack of mutations in ZIC3 in three families with neural tube defects.
- A comparative transcription map of the murine bare patches (Bpa) and striated (Str) critical regions and human Xq28.
- The X-linked mouse mutation Bent tail is associated with a deletion of the Zic3 locus.
- Human homologue of the murine bare patches/striated gene is not mutated in incontinentia pigmenti type 2.
- Genetic and physical mapping of a gene encoding a methyl CpG binding protein, Mecp2, to the mouse X chromosome.
- Deletion of 8q24 in an adult with mild dysmorphic features, developmental delay, and ketotic hypoglycemia.
- Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com.
- Leigh disease with mitochondrial DNA A8344G mutation: case report and brief review.
- X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684).
- Genomic structure of a novel LIM domain gene (ZNF185) in Xq28 and comparisons with the orthologous murine transcript.
- Genetic and physical mapping of the biglycan gene on the mouse X chromosome.
- Comparative genome sequence analysis of the Bpa/Str region in mouse and Man.
- Mouse X chromosome.
- Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere.
- Genetic mapping of the X-linked dominant mutations striated (Str) and bare patches (Bpa) to a 600-kb region of the mouse X chromosome: implications for mapping human d...
- Genetic analyses of tattered, an X-linked dominant, developmental mouse mutation.
- X-linked myotubular myopathy: clinical observations in ten additional cases.
- Encyclopedia of the mouse genome III. October 1993. Mouse X chromosome.
- Cloning and regional localization of the mouse faciogenital dysplasia (Fgd1) gene.
- The role of ZIC3 in vertebrate development.
- Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q).
- Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency.
- Genotype-phenotype correlations in X-linked myotubular myopathy.
- Comparative mapping of the actin-binding protein 280 genes in human and mouse.
- X-Linked dominant disorders of cholesterol biosynthesis in man and mouse.
- The chromosome localization and the HCF repeats of the human host cell factor gene (HCFC1) are conserved in the mouse homologue.
- A 2.3-Mb yeast artificial chromosome contig spanning from Gabra3 to G6pd on the mouse X chromosome.
- A comparative transcriptional map of a region of 250 kb on the human and mouse X chromosome between the G6PD and the FLN1 genes.
- CHILD syndrome: clinical picture and diagnostic procedures.
- Close linkage of the murine locus bare patches to the X-linked visual pigment gene: implications for mapping human X-linked dominant chondrodysplasia punctata.
- A YAC clone map spanning 7.5 megabases of human chromosome band Xq28.
- Inborn errors of sterol biosynthesis.
- Encyclopedia of the mouse genome V. Mouse X chromosome.
- Endothelial nitric oxide synthase (Nos3) maps to the proximal region of mouse chromosome 5.
- Physical mapping of the mouse genome.
- Extension of the physical map in the region of the mouse X chromosome homologous to human Xq28 and identification of an exception to conserved linkage.
- Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations.
- Cloning and characterization of the cDNA for the murine iduronate sulfatase gene.
- Glycogen storage disease in adults.
- The mouse X-linked developmental mutant, tattered, lies between DXMit55 and Xkh and is associated with hyperkeratinization.
- Encyclopedia of the mouse genome VII. Mouse chromosome X.
- Dispersed repetitive elements in mouse genome analysis.
- Importance of state of methylation of oriC GATC sites in initiation of DNA replication in Escherichia coli.
- Genetic mapping of the mouse X chromosome in the region homologous to human Xq27-Xq28.
- Physical mapping of the loci Gabra3, DXPas8, CamL1, and Rsvp in a region of the mouse X chromosome homologous to human Xq28.
- Genetic mapping on the mouse X chromosome of human cDNA clones for the fragile X and Hunter syndromes.
Schools
Duke University School Of Medicine
Baylor College Of Med
Doctors Specialties
- Clinical Biochemical Genetics
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
Awards
- Regional Top Doctor
Education
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Baylor College of Medicine -
University of North Carolina Hospitals -
Duke University School of Medicine
Hospital
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Nationwide Children's Hospital -
Ohio State University Wexner Medical Center
Drug Facts
| NPI NUMBER | 1457301871 | |
| NPPES Provider LastName | HERMAN | |
| NPPES Provider FirstName | GAIL | |
| NPPES Provider ZIPCode | 607143159 | |
| NPPES Provider State | IL | |
| Specialty Description | Internal Medicine | |
| Total Claim Count | 5003.0 | |
| Distinct Opioid Count | 2.0 | |
| Opioid Claim Count | 221.0 | |
| Percent Opioid Claims | 4.42 |
Helpful Reviews
Medicare Facts
| National Provider Identifier [NPI] | 1457301871 |
| Last Name Of The Provider | HERMAN |
| First Name Of The Provider | GAIL |
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