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Author Details

Gail E Herman
12306The Ohio State University
1986
112
38
PMIDPaper TitleJournal TitlePublished Year
35982160Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.Nat Genet2022
35384780Phenotypic Spectrum in a Family Sharing a Heterozygous <i>KCNQ3</i> Variant.J Child Neurol2022
34012069Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG).Genet Med2021
34345026Correction to: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG).Genet Med2021
30836150CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.Eur J Med Genet2020
30197492Testing genetic modifiers of behavior and response to atomoxetine in autism spectrum disorder with ADHD.J Dev Phys Disabil2018
29961511Language Regression in an Atypical SLC6A1 Mutation.Semin Pediatr Neurol2018
29851191Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.Hum Mutat2018
27854360Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.Genet Med2017
28340351Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.Cell2017
29196732Human CRMP4 mutation and disrupted Crmp4 expression in mice are associated with ASD characteristics and sexual dimorphism.Sci Rep2017
28526761A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children.J Med Genet2017
27171546Recommendations for the integration of genomics into clinical practice.Genet Med2016
29296943Hematopoietic cell transplantation for a child with OSTM1 osteopetrosis.Blood Adv2016
25394173Reporting genomic secondary findings: ACMG members weigh in.Genet Med2015
26344763Endogenous Sterol Metabolites Regulate Growth of EGFR/KRAS-Dependent Tumors via LXR.Cell Rep2015
25652406Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development.Hum Mol Genet2015
24664640Analysis of two candidate genes for Basan syndrome.Am J Med Genet A2014
25251875ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination.Am J Med Genet A2014
24753316Family-based clinical associations and functional characterization of the serotonin 2A receptor gene (HTR2A) in autism spectrum disorder.Autism Res2014
24667040An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.Genome Biol2014
23125191Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGF receptor inhibitors via increased EGF receptor degradation.Cancer Discov2013
22190277Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay.Am J Med Genet A2012
23042573Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.Am J Med Genet C Semin Med Genet2012
20929975Malformation syndromes caused by disorders of cholesterol synthesis.J Lipid Res2011
21308999Contactin 4 as an autism susceptibility locus.Autism Res2011
21438134Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.Am J Med Genet A2011
19880419Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos.Hum Mol Genet2010
21129721Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.Am J Hum Genet2010
20533527Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly.Autism Res2010
20503333Deletion of 8q24 in an adult with mild dysmorphic features, developmental delay, and ketotic hypoglycemia.Am J Med Genet A2010
20358616A tale of two deletions: a report of two novel 20p13 --&gt; pter deletions.Am J Med Genet A2010
19265751The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.Genet Med2009
19631568Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse.Mol Genet Metab2009
17505203Genetic testing in autism: how much is enough?Genet Med2007
17286265Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.Am J Med Genet A2007
17448011CHILD syndrome: clinical picture and diagnostic procedures.J Eur Acad Dermatol Venereol2007
16631621Pbx1 and Meis1 regulate activity of the Xenopus laevis Zic3 promoter through a highly conserved region.Biochem Biophys Res Commun2006
17028112Analysis of Nsdhl-deficient embryos reveals a role for Hedgehog signaling in early placental development.Hum Mol Genet2006
16860134Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.J Pediatr2006
15805545Changes in gene expression associated with loss of function of the NSDHL sterol dehydrogenase in mouse embryonic fibroblasts.J Lipid Res2005
15639195Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H Steroid Dehydrogenase-like (NSDHL) Enzyme.Mol Genet Metab2005
12668600Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes.Hum Mol Genet2003
14506130NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets.Hum Mol Genet2003
12966526Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene.Am J Med Genet A2003
14567972Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast.Mol Genet Metab2003
12661941Leigh disease with mitochondrial DNA A8344G mutation: case report and brief review.J Child Neurol2003
11807911Exclusion of mutations in the MTMR1 gene as a frequent cause of X-linked myotubular myopathy.Am J Med Genet2002
12900569The role of ZIC3 in vertebrate development.Cytogenet Genome Res2002
12509714Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome).Genet Med2002
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Collaborators

Mary Lyon Centre Harwell Science and Innovation Campus Oxfordshire UK.
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Co-authored papers 5
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The Turing Institute
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Co-authored papers 2
University of Washington Medical Center
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Broad Institute of MIT and Harvard
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University of Florida, College of Medicine-Jacksonville
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The Broad Institute of MIT and Harvard
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Indiana University School of Medicine
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Northwestern University Feinberg School of Medicine.
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College of Medicine, The Ohio State University
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The Ohio State University
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