G. Herman

发表

Recommendations for the integration of genomics into clinical practice

D. Ledbetter, I. Krantz, N. Spinner, 2016, Genetics in Medicine.

Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research

Monte Westerfield, Wendy S. Rubinstein, Gregory M. Cooper, 2017, Cell.

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

Matthew W. Mosconi, Ryan L. Collins, Stephan J Sanders, 2019, Cell.

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

Stephan J Sanders, Alicia R. Martin, K. Roeder, 2018, Cell.

Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk

Matthew W. Mosconi, Ryan L. Collins, Stephan J Sanders, 2018, bioRxiv.

Recommendations 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

W. Chung, K. Ormond, T. Klein, 2016, Genetics in Medicine.

The mouse X-linked developmental mutant, tattered, lies between DXMit55 and Xkh and is associated with hyperkeratinization.

D. Burke, B. Cooper, G. Herman, 1996, Genomics.

Mutations in a Δ8-Δ7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata

J. Derry, A. Meindl, G. Herman, 1999, Nature Genetics.

Genetic analyses of Tattered, an X-linked dominant, developmental mouse mutation

K. Calame, G. Herman, K. Merrell, 1995, Mammalian Genome.

Leigh Disease With Mitochondrial DNA A8344G Mutation: Case Report and Brief Review

J. Atkin, D. Boue, G. Herman, 2003, Journal of child neurology.

Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere.

S. Daiger, D. Kwiatkowski, S. Blanton, 1992, American journal of human genetics.

Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ3 Variant

G. Herman, D. Bartholomew, Emily Hansen-Kiss, 2022, Journal of child neurology.

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 disorders in Xq28

R. Lewis, S. Kenwrick, G. Herman, 2004, Mammalian Genome.

exma: an X-linked insertional mutation that disrupts forebrain and eye development

G. Herman, P. Overbeek, K. Sulik, 2002, Mammalian Genome.

Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development.

R. Steiner, G. Herman, Natalie Bir, 2015, Human molecular genetics.

Disorders of sterol synthesis: Beyond Smith–Lemli–Opitz syndrome

G. Herman, L. Kratz, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

Comparative genome sequence analysis of the Bpa/Str region in mouse and Man.

W. Miller, A. Mallon, A. Rosenthal, 2000, Genome research.

Correction 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)

W. Chung, T. Klein, David T. Miller, 2021, Genetics in Medicine.

Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast.

M. Bard, G. Herman, J. Peters, 2003, Molecular genetics and metabolism.

The chromosome localization and the HCF repeats of the human host cell factor gene (HCFC1) are conserved in the mouse homologue.

A. Villa, G. Herman, P. Vezzoni, 1996, Genomics.

Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C

R. Tenconi, M. Tartaglia, R. Heller, 2011, American journal of medical genetics. Part A.

The role of Zic3 in vertebrate development

G. Herman, H. El-Hodiri, 2003, Cytogenetic and Genome Research.

Encyclopedia of the mouse genome VII. Mouse chromosome X.

P. Denny, G. Herman, E. Gormally, 1998, Mammalian genome : official journal of the International Mammalian Genome Society.

A 2.3-Mb yeast artificial chromosome contig spanning from Gabra3 to G6pd on the mouse X chromosome.

A. Poustka, G. Herman, C. J. Faust, 1994, Genomics.

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

Ryan L. Collins, Jack M. Fu, Stephan J Sanders, 2022, Nature Genetics.

Comparative mapping on the mouse X Chromosome defines a myotubular myopathy equivalent region

G. Herman, B. Gouyon, S. Brown, 1996, Mammalian Genome.

TERATOGENIC EFFECTS OF FIRST‐TRIMESTER CYCLOPHOSPHAMIDE THERAPY

E. McCabe, G. Herman, B. Kirshon, 1988, Obstetrics and gynecology.

Recommendations for the integration of genomics into clinical practice

D. Ledbetter, I. Krantz, N. Spinner, 2016, Genetics in Medicine.

CHINESE HAMSTER OVARY CELL-DERIVED RECOMBINANT HUMAN ACID α -GLUCOSIDASE IN INFANTILE-ONSET POMPE DISEASE

G. Herman, T. Voit, A. Amalfitano, 2009 .

An E. coli beta-galactosidase cassette suitable for study of eukaryotic expression.

A. Beaudet, W. O'Brien, G. Herman, 1986, Nucleic acids research.

The X-linked mouse mutation Bent tail is associated with a deletion of the Zic3 locus.

G. Herman, S. Purandare, T. Fox, 2000, Human molecular genetics.

Pbx1 and Meis1 regulate activity of the Xenopus laevis Zic3 promoter through a highly conserved region.

G. Herman, H. El-Hodiri, T. Carrel, 2006, Biochemical and biophysical research communications.

Genetic mapping of the mouse X chromosome in the region homologous to human Xq27-Xq28.

E. Barnard, G. Herman, M. Darlison, 1991, Genomics.

Inborn errors of sterol biosynthesis.

G. Herman, R. Kelley, Richard I. Kelley, 2003, Annual review of genomics and human genetics.

A YAC clone map spanning 7.5 megabases of human chromosome band Xq28.

H. Hameister, G. Herman, E. Pick, 1994, Human molecular genetics.

Malformation syndromes caused by disorders of cholesterol synthesis

G. Herman, F. Porter, 2011, Journal of Lipid Research.

X-Linked dominant disorders of cholesterol biosynthesis in man and mouse.

G. Herman, Gail E. Herman, 2000, Biochimica et biophysica acta.

CHILD syndrome: clinical picture and diagnostic procedures

A. Jezela-Stanek, G. Herman, L. Brzezińska-Wcisło, 2007, Journal of the European Academy of Dermatology and Venereology : JEADV.

NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets.

H. Caldas, G. Herman, 2003, Human molecular genetics.

Left‐sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene

G. Herman, R. Kelley, C. Mullett, 2003, American journal of medical genetics. Part A.

Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes.

G. Herman, 2003, Human molecular genetics.

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.

Steven J. M. Jones, Ryan D. Morin, Richard A. Moore, 2010, American journal of human genetics.

The gene mutated in bare patches and striated mice encodes a novel 3β-hydroxysteroid dehydrogenase

W. Miller, A. Mallon, M. Botcherby, 1999, Nature Genetics.

D-2-hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction.

W. Craigen, G. Herman, K. Gibson, 1994, Pediatric neurology.

Malignant fibrous histiocytoma of the mandible.

R. MacIntosh, G. Herman, Y. Anavi, 1989, Oral surgery, oral medicine, and oral pathology.

Recommendations 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)

W. Chung, T. Klein, David T. Miller, 2021, Genetics in Medicine.

Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome)

R. Sutphen, G. Herman, R. Kelley, 2002, Genetics in Medicine.

Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism

Ryan L. Collins, Jack M. Fu, Stephan J Sanders, 2021, medRxiv.

Human CRMP4 mutation and disrupted Crmp4 expression in mice are associated with ASD characteristics and sexual dimorphism

Y. Goshima, G. Herman, M. Nishihara, 2017, Scientific Reports.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

Comprehensive Clinical Phenotyping and Genetic Mapping for the Discovery of Autism Susceptibility Genes

E. Seiber, W. Sadee, G. Herman, 2013 .

Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly

Kandamurugu Manickam, Thomas W Prior, J. Atkin, 2010, Autism research : official journal of the International Society for Autism Research.

Contactin 4 as an autism susceptibility locus

J. Gastier-Foster, C. E. Alvarez, K. McBride, 2011, Autism research : official journal of the International Society for Autism Research.

Family‐Based Clinical Associations and Functional Characterization of the Serotonin 2A Receptor Gene (HTR2A) in Autism Spectrum Disorder

Ryan M. Smith, W. Sadee, G. Herman, 2014, Autism research : official journal of the International Society for Autism Research.

Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGF receptor inhibitors via increased EGF receptor degradation.

Yan Zhou, T. Bagnyukova, A. Nikonova, 2013, Cancer discovery.

Chondrodysplasia Punctata 2, X-Linked

G. Herman, M. Dempsey, Christopher Tan, 2011 .

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly

K. McBride, G. Herman, T. Prior, 2009, Genetics in Medicine.

Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q).

D. Ledbetter, G. Herman, F. Greenberg, 1988, American journal of medical genetics.

Faculty Opinions recommendation of Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

G. Herman, 2012 .

Physical mapping of the loci Gabra3, DXPas8, CamL1, and Rsvp in a region of the mouse X chromosome homologous to human Xq28.

G. Herman, C. J. Faust, 1991, Genomics.

CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.

R. Pyatt, G. Herman, Emily Hansen-Kiss, 2019, European journal of medical genetics.

A Collaborative Translational Autism Research Program for the Military

W. Sadee, G. Herman, Emily Hansen-Kiss, 2016 .

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.

B. Levinson, J. Gitschier, G. Herman, 1992, Genomics.

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)

W. Chung, T. Klein, David T. Miller, 2021, Genetics in Medicine.

A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children

C. Eng, G. Herman, T. Prior, 2017, Journal of Medical Genetics.

Expression of human argininosuccinate synthetase in murine hematopoietic cells in vivo

A. Beaudet, W. O'Brien, P. A. Wood, 1989, Somatic Cell Genetics.

Endogenous Sterol Metabolites Regulate Growth of EGFR/KRAS-Dependent Tumors via LXR.

E. Golemis, G. Herman, Dong-Hua Yang, 2015, Cell reports.

Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay

L. Hudgins, S. Aradhya, D. Stockton, 2012, American journal of medical genetics. Part A.

Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse.

C. Boerkoel, G. Herman, K. McLarren, 2009, Molecular genetics and metabolism.

Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H Steroid Dehydrogenase-like (NSDHL) Enzyme.

H. Caldas, G. Herman, R. Kelley, 2005, Molecular genetics and metabolism.

Genetic and physical mapping of the biglycan gene on the mouse X Chromosome

G. Herman, C. J. Faust, A. Chatterjee, 2004, Mammalian Genome.

A comparative transcription map of the murine bare patches (Bpa) and striated (Str) critical regions and human Xq28.

R. F. Smith, K. Worley, O. Zhuchenko, 1996, Genome research.

Close linkage of the murine locus bare patches to the X-linked visual pigment gene: implications for mapping human X-linked dominant chondrodysplasia punctata.

G. Herman, S. J. Walton, 1990, Genomics.

Retrovirus-mediated gene transfer of argininosuccinate synthetase into cultured rodent cells and human citrullinemic fibroblasts.

A. Beaudet, W. O'Brien, P. A. Wood, 1986, Cold Spring Harbor symposia on quantitative biology.

Genetic testing in autism: how much is enough?

K. McBride, G. Herman, Sara Fitzgerald, 2007, Genetics in Medicine.

Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly

Eric Butter, G. Herman, T. Prior, 2007, American journal of medical genetics. Part A.

Characterization of mutations in fifty North American patients with X‐linked myotubular myopathy

Soma Das, G. Herman, Wei Zhao, 2002, Human mutation.

Exclusion of mutations in the MTMR1 gene as a frequent cause of X-linked myotubular myopathy.

A. Poustka, M. Platzer, S. Taudien, 2002, American journal of medical genetics.

Medical complications in long-term survivors with X-linked myotubular myopathy.

Wei Zhao, G. Herman, M. Finegold, 1999, The Journal of pediatrics.

Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy.

J. Mandel, G. Herman, J. Laporte, 1997, Human molecular genetics.

X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684).

A. Poustka, J. Mandel, G. Herman, 1994, Journal of medical genetics.

X-linked myotubular myopathy: clinical observations in ten additional cases.

G. Herman, K. Holden, G. Pai, 1995, American journal of medical genetics.

Cloning and regional localization of the mouse faciogenital dysplasia (Fgd1) gene

G. Herman, B. Gouyon, J. Gorski, 1995, Mammalian Genome.

Physical mapping of the mouse genome.

G. Herman, 1998, Methods.

Reporting genomic secondary findings: ACMG members weigh in

Bruce E. Bowdish, M. Watson, J. Benkendorf, 2014, Genetics in Medicine.

A tale of two deletions: A report of two novel 20p13 → pter deletions

J. Rosenfeld, D. Weaver, G. Herman, 2010, American journal of medical genetics. Part A.

Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com.

J. Derry, A. Meindl, G. Herman, 1999, Nature genetics.

Genomic structure of a novel LIM domain gene (ZNF185) in Xq28 and comparisons with the orthologous murine transcript.

S. Klauck, A. Poustka, A. Rosenthal, 1997, Genomics.

Analysis of two candidate genes for Basan syndrome

G. Herman, D. Cunningham, Wesley Banks, 2014, American journal of medical genetics. Part A.

Mouse X chromosome

D. Adler, C. Disteche, P. Avner, 2009, Mammalian Genome.

Mouse X Chromosome

P. Avner, G. Herman, S. D. Brown, 2004, Mammalian Genome.

Analysis of Nsdhl-deficient embryos reveals a role for Hedgehog signaling in early placental development.

G. Herman, F. Jiang, 2006, Human molecular genetics.

Mouse X chromosome

V. Chapman, P. Avner, G. Herman, 2004, Mammalian Genome.

Dispersed repetitive elements in mouse genome analysis

J. Nadeau, G. Herman, S. Hardies, 2004, Mammalian Genome.

Genetic and physical mapping of a gene encoding a methyl CpG binding protein, Mecp2, to the mouse X chromosome.

S. Cross, A. Bird, G. Herman, 1994, Genomics.

Hematopoietic cell transplantation for a child with OSTM1 osteopetrosis.

G. Herman, E. Horwitz, R. Bajwa, 2017, Blood advances.

Hematopoietic cell transplantation for a child with OSTM 1 osteopetrosis

G. Herman, E. Horwitz, R. Bajwa, 2016 .

A comparative transcriptional map of a region of 250 kb on the human and mouse X chromosome between the G6PD and the FLN1 genes.

E. Maestrini, F. Tamanini, S. Rivella, 1995, Genomics.

Cloning and characterization of the cDNA for the murine iduronate sulfatase gene.

A. Ballabio, G. Herman, A. Daniele, 1993, Genomics.

Genetic mapping on the mouse X chromosome of human cDNA clones for the fragile X and Hunter syndromes.

C. P. Morris, A. Verkerk, G. Herman, 1992, Genomics.

Mouse models of human disease: lessons learned and promises to come.

G. Herman, Gail E Herman, 2002, ILAR journal.

Endothelial nitric oxide synthase (Nos3) maps to the proximal region of mouse Chromosome 5

W. O'Brien, G. Herman, A. Gregg, 1995, Mammalian Genome.

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 polymerase chain reaction.

I. Craig, G. Herman, E. Levy, 1991, Genomics.

Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery

H. Mefford, J. Gécz, T. Strom, 2018, Human mutation.

ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination

A. Vanderver, C. Boerkoel, C. Tifft, 2014, American journal of medical genetics. Part A.

Language Regression in an Atypical SLC6A1 Mutation.

G. Herman, Monica P. Islam, E. De Los Reyes, 2018, Seminars in pediatric neurology.

Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos.

K. McBride, G. Herman, Natalie Bir, 2010, Human molecular genetics.

Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.

G. Herman, R. C. Rogers, T. Voit, 2006, The Journal of pediatrics.

Testing Genetic Modifiers of Behavior and Response to Atomoxetine in Autism Spectrum Disorder with ADHD

Tristram H. Smith, W. Sadee, G. Herman, 2018, Journal of Developmental and Physical Disabilities.

Testing Genetic Modifiers of Behavior and Response to Atomoxetine in Autism Spectrum Disorder with ADHD

Tristram H. Smith, W. Sadee, G. Herman, 2018, Journal of developmental and physical disabilities.

Deletion of 8q24 in an adult with mild dysmorphic features, developmental delay, and ketotic hypoglycemia

C. Stratakis, M. Muenke, B. Solomon, 2010, American journal of medical genetics. Part A.

Linitis plastica of the esophagus.

T. Olencki, R. Pazdur, G. Herman, 1988, The American journal of gastroenterology.

Comparative mapping of the actin-binding protein 280 genes in human and mouse.

E. Maestrini, S. Rivella, N. Archidiacono, 1994, Genomics.

Human homologue of the murine bare patches/striated gene is not mutated in incontinentia pigmenti type 2.

A. Poustka, A. Ciccodicola, T. Esposito, 2000, American journal of medical genetics.

Human CRMP4 mutation and disrupted Crmp4 expression in mice are associated with ASD characteristics and sexual dimorphism

Y. Goshima, G. Herman, M. Nishihara, 2017, Scientific Reports.

d-2-Hydroxyglutaric aciduria in a newborn with neurological abnormalities: A new neurometabolic disorder?

W. Craigen, G. Herman, K. Gibson, 1993, Journal of Inherited Metabolic Disease.

Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere.

S. Daiger, S. Blanton, W. Dobyns, 1992, American journal of human genetics.

Encyclopedia of the mouse genome V. Mouse X chromosome.

S. Boyd, G. Herman, H. Blair, 1996, Mammalian genome : official journal of the International Mammalian Genome Society.

Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGF receptor inhibitors via increased EGF receptor degradation.

Yan Zhou, T. Bagnyukova, A. Nikonova, 2013, Cancer discovery.

Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency.

G. Herman, K. Gibson, J. Saudubray, 1996, Human molecular genetics.

Thematic Review Series: Genetics of Human Lipid Diseases Malformation syndromes caused by disorders of cholesterol synthesis

E. K. Shriver, G. Herman, F. Porter, 2011 .