Gail E. Herman, MD, PhD

Gail E. Herman, MD, PhD, is a member of the Section of Molecular and Human Genetics at Nationwide Children's Hospital, and the Center for Molecular and Human Genetics in The Research Institute at Nationwide Children's Hospital. She is a Professor in the Department of Pediatrics with a secondary appointment in the Department of Molecular Virology, Immunology and Medical Genetics at The Ohio State University College of Medicine. She received her medical degree and a PhD in biochemistry from Duke University and completed a residency in pediatrics and a fellowship in genetics at Baylor College of Medicine. She is board-certified in pediatrics and clinical and biochemical genetics. Her research focuses on X-linked developmental disorders. Current National Institutes of Health (NIH)-funded research focuses on mouse models for cholesterol biosynthesis disorders. A new research focus involves translational work with the development of the Central Ohio Registry for Autism (CORA) and genetics evaluation of children with autism funded through the Department of Defense. Dr. Herman serves on the Department of Pediatrics promotion and tenure committee and is President-Elect of the American College of Medical Genetics.

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Gender:

• Female

Languages Spoken:

• English

Research Center:

• Center for Molecular and Human Genetics

Areas of Interest:

• Our laboratory uses genetic approaches to try to understand the basis for selected single gene and more complex human developmental disorders. In 1999, we discovered that the X-linked, male lethal mouse mutants bare patches (Bpa) and tattered (Td) were associated with mutations in the genes Nsdhl and Ebp, encoding sequential enzymes in cholesterol biosynthesis. Subsequently, we and others identified mutations in the orthologous human genes in CHILD syndrome and X-linked dominant chondrodysplasia punctata, respectively. All of these disorders produce skeletal, skin, CNS, and eye abnormalities in surviving females and are among 6 known disorders of sterol biosynthesis. The most common of the human cholesterol biosynthesis disorders, Smith-Lemli-Opitz syndrome, causes hypotonia, failure to thrive, major malformations, and mental retardation. It has the highest incidence of autism (>50%) for any known single gene disorder. Recently, several males with mental retardation and non-mosaic mutations in EBP or NSDHL have been identified, suggesting that the spectrum of phenotypes associated with defects in these genes is broader than originally thought, and that these enzymes play critical functions in the developing CNS. Since male mouse embryos with Nsdhl mutations die prenatally, we generated a conditional targeted Nsdhl allele in embryonic stem cells using Cre-lox technology. This conditional allele reproduces the null phenotype of the original Bpa mutation. Inactivation of the conditional allele in the embryonic mouse brain beginning at ~E13.5 produces a dramatic and novel cerebellar phenotype with reduced granule cell proliferation and deficient hedgehog signaling. We are currently exploring the effects of inactivation with different Cre lines to produce later-onset behavioral phenotypes in our mice. In a second translational project, we have a large multisite collaboration with Dr. Wolfgang Sadee at The Ohio State University and clinicians at Dayton Children’s Medical Center and Wright Patterson Air Force Base that is funded through the Department of Defense to develop a registry for families in central Ohio with children with autism spectrum disorders (ASDs). Over 200 families have been enrolled, with detailed demographic, genetic, and medical information on each. Through the registry and clinical genetics evaluations of children with autism, we have developed guidelines for genetic testing for newly diagnosed patients, including the sequencing of the PTEN tumor suppressor gene in patients with autism or developmental delay and macrocephaly. We are performing whole exome sequencing on selected registry families to identify de novo pathogenic variants, as well as second site modifiers in children with an identifiable primary mutation. In collaboration with Dr. Sadee, we are performing association studies in trios in our registry using polymorphic functional variants identified by Dr. Sadee in genes involved in relevant neurotransmitter pathways.

Research Funding*:

• Comprehensive Clinical Phenotyping and Genetic Mapping for the Discovery of Autism Susceptibility Genes, Air Force Medical Service/Department of Defense
• The Nsdhl deficient mouse as a model to examine the role of cholesterol in autism pathogenesis, Marci and Bill Ingram Comprehensive Center for Autism Spectrum Disorders
• Molecular Studies of X-linked Chondrodysplasia Punctata, National Institute of Child Health & Human Development

Undergraduate School

• Smith College
  Date Completed: 06/30/1973

Graduate School

• Duke University
  Date Completed: 09/30/1981

Medical School

• Duke University Medical Center - Durham
  Date Completed: 09/30/1981

Fellowship

• University of North Carolina
  Date Completed: 05/31/1982

Residency

• Baylor College of Medicine
  Date Completed: 06/30/1985

Fellowship

• Baylor College of Medicine
  Date Completed: 06/30/1988

Department:

• Pediatrics

Section:

• Molecular & Human Genetics

Speciality:

• Clinical Biochemical Genetics
  
• Clinical Genetics
  
• Pediatrics
  

Date of Appointment at Nationwide Children’s Hospital:

• 06/17/1997

2001–present

• Principal Investigator, Center for Molecular & Human Genetics, The Research Institute at Nationwide Children's Hospital, Columbus, Ohio

2000–present

• Professor, Department of Pediatrics, The Ohio State University, Columbus, Ohio

1997–2000

• Associate Professor, Division of Molecular and Human Genetics, Department of Pediatrics, The Ohio State University, Columbus, Ohio

1993–1996

• Associate Professor, Department of Molecular and Human Genetics and Department of Pediatrics, Baylor College of Medicine, Houston, Texas

1988–1993

• Assistant Professor, Institute for Molecuar Genetics and Department of Pediatrics, Baylor College of Medicine, Houston, Texas

1985–1988

• Fellow, Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas

1982–1985

• Resident in Pediatrics, Baylor College of Medicine, Houston, Texas

1981–1982

• Clinical Fellow in Division of Genetics, Department of Pediatrics, University of North Carolina at Chapel Hill

1975–1980

• Ph.D. thesis, Duke University - Advisor, Dr. Paul Modrich.  "Studies on the Structure, Mechanism, and Biological role of the E. coli dam Methylase."

• Rosenfeld, JA; Traylor, RN; Schaefer, GB; McPherson, EW; Bailiff, BC; Klopocki, E; Mundlos, S; Shaffer, LG; Aylsworth, AS; 1q21.1 Study Group (Herman, GE, member of study group). 2012. Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.  European Journal of Genetics. Vol. 00, no. February: e00.
• Muller,Eric,A; Aradhya,Swaroop; Atkin,Joan,F; Carmany,Erin,P; Elliott,Alison,M; Chudley,Albert,E; Clark,Robin,D; Everman,David,B; Garner,Shannon; Hall,Bryan,D; Herman,Gail,E; Kivuva,Emma; Ramanathan,Subhadra; Stevenson,David,A; Stockton,David,W; Hudgins,Louanne. 2012. Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay.  AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Vol. 158A, no. 2. (February): 391-399.
• Cottrell CE; Bir N; Varga E; Alvarez CE; Bouyain S; Zernzach R; Thrush DL; Evans J; Trimarchi M; Butter EM; Cunningham D; Gastier-Foster JM; McBride KL; Herman GE. 2011. Contactin 4 as an autism susceptibility locus.  Autism Research: Official Journal Of The International Society For Autism Research. Vol. 4, no. 3. (June): e189.
• Dempsey, MA, Tan, C, Herman, GE. 2011. Chondrodysplasia Punctata 2, X-Linked. Copyright, Univ of Washington, Seattle, 1997-2010. Available at www.genetests.org.  GeneReviews at GeneTests: Medical Genetics Information Resource (oneline database). Vol. 00, no. May: e00.
• Gripp KW; Hopkins E; Sol-Church K; Stabley DL; Axelrad ME; Doyle D; Dobyns WB; Hudson C; Johnson J; Tenconi R; Graham GE; Sousa AB; Heller R; Piccione M; Corsello G; Herman GE; Tartaglia M; Lin AE. 2011. Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.  American Journal Of Medical Genetics. Part A. Vol. 155A, no. 4. (April): e706.
• Porter FD; Herman GE. 2011. Malformation syndromes caused by disorders of cholesterol synthesis.  Journal Of Lipid Research. Vol. 52, no. 1. (January): e6.
• McLarren KW; Severson TM; du Souich C; Stockton DW; Kratz LE; Cunningham D; Hendson G; Morin RD; Wu D; Paul JE; An J; Nelson TN; Chou A; DeBarber AE; Merkens LS; Michaud JL; Waters PJ; Yin J; McGillivray B; Demos M; Rouleau GA; Grzeschik KH; Smith R; Tarpey PS; Shears D; Schwartz CE; Gecz J; Stratton MR; Arbour L; Hurlburt J; Van Allen MI; Herman GE; Zhao Y; Moore R; Kelley RI; Jones SJ; Steiner RD; Raymond FL; Marra MA; Boerkoel CF. 2010. Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.  American Journal Of Human Genetics. Vol. 87, no. 6. (December): e905.
• McBride KL; Varga EA; Pastore MT; Prior TW; Manickam K; Atkin JF; Herman GE. 2010. Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly.  Autism Research: Official Journal Of The International Society For Autism Research. Vol. 3, no. 3. (June): e137.
• Solomon,Benjamin,D; Lange,Eileen; Shubrook,Jay; Service,F,John; Herman,Gail; Karne,Rajaram,J; Gorden,Phillip; Muenke,Maximilian; Stratakis,Constantine,A. 2010. Deletion of 8q24 in an Adult With Mild Dysmorphic Features, Developmental Delay, and Ketotic Hypoglycemia.  AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Vol. 152A, no. 6. (June): 1545-1549.
• McGill AK; Pastore MT; Herman GE; Alliman S; Rosenfeld JA; Weaver DD. 2010. A tale of two deletions: a report of two novel 20p13 --> pter deletions.  American Journal Of Medical Genetics. Part A. Vol. 152A, no. 4. (April): e1000.
• Cunningham D; Talabere T; Bir N; Kennedy M; McBride KL; Herman GE. 2010. Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos.  Human Molecular Genetics. Vol. 19, no. 2. (January): e364.
• Cunningham,David; Spychala,Kaitlyn; McLarren,Keith,W; Garza,Luis,A; Boerkoel,Cornelius,F; Herman,Gail,E. 2009. Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse.  MOLECULAR GENETICS AND METABOLISM. Vol. 98, no. 4. (December): 356-366.
• Varga EA; Pastore M; Prior T; Herman GE; McBride KL. 2009. The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.  Genetics In Medicine: Official Journal Of The American College Of Medical Genetics. Vol. 11, no. 2. (February): e111.
• Kaminska-Winciorek,G; Brzezinska-Wcislo,L; Jezela-Stanek,A; Krajewska-Walasek,M; Cunningham,D; Herman,G,E. 2007. CHILD syndrome: clinical picture and diagnostic procedures.  JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY. Vol. 21, no. 5. (May): 715-716.
• Herman GE; Henninger N; Ratliff-Schaub K; Pastore M; Fitzgerald S; McBride KL. 2007. Genetic testing in autism: how much is enough?.  Genetics In Medicine: Official Journal Of The American College Of Medical Genetics. Vol. 9, no. 5. (May): e268.
• Herman,Gail,E; Butter,Eric; Enrile,Benedicta; Pastore,Matthew; Prior,Thomas,W; Sommer,Annemarie. 2007. Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.  AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Vol. 143A, no. 6. (March): 589-593.
• Herman,Gail,E; Butter,Eric; Enrile,Benedicta; Pastore,Matthew; Prior,Thomas,W; Sommer,Annemarie. 2007. Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.  American journal of medical genetics. Part A. Vol. 143, no. 6. (March): 589-593.
• Jiang,Fenglei; Herman,Gail,E. 2006. Analysis of Nsdhl-deficient embryos reveals a role for hedgehog signaling in early placental development.  HUMAN MOLECULAR GENETICS. Vol. 15, no. 22. (November): 3293-3305.
• Das, S, Herman GE. 2006. X-Linked Myotubular Myopathy (Updated 10/2006) - Copyright, Univ of Washington, Seattle. Available at www.genetests.org.  GeneReviews in GeneTests: Medical Genetics Information Resource (online database). Vol. 00, no. October: e00.
• Kishnani,Priya,Sunil; Nicolino,Marc; Voit,Thomas; Rogers,R,Curtis; Tsai,Anne,Chun-Hui; Waterson,John; Herman,Gail,E; Amalfitano,Andreas; Thurberg,Beth,L; Richards,Susan; Davidson,Mark; Corzo,Deyanira; Chen,Y,T. 2006. Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.  JOURNAL OF PEDIATRICS. Vol. 149, no. 1. (July): 89-97.
• Kelly,Lisa,E; Carrel,Tessa,L; Herman,Gail,E; El-Hodiri,Heithem,M. 2006. Pbx1 and Meis1 regulate activity of the Xenopus laevis Zic3 promoter through a highly conserved region.  BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. Vol. 344, no. 3. (June): 1031-1037.
• Cunningham,D; Swartzlander,D; Liyanarachchi,S; Davuluri,R,V; Herman,G,E. 2005. Changes in gene expression associated with loss of function of the NSDHL sterol dehydrogenase in mouse embryonic fibroblasts.  JOURNAL OF LIPID RESEARCH. Vol. 46, no. 6. (June): 1150-1162.
• Caldas,H; Cunningham,D; Wang,X,J; Jiang,F,L; Humphries,L; Kelley,R,I; Herman,G,E. 2005. Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H Steroid Dehydrogenase-like (NSDHL) Enzyme.  MOLECULAR GENETICS AND METABOLISM. Vol. 84, no. 1. (January): 48-60.
• Caldas,H; Herman,G,E. 2003. NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets.  HUMAN MOLECULAR GENETICS. Vol. 12, no. 22. (November): 2981-2991.
• Hummel,M; Cunningham,D; Mullett,C,J; Kelley,R,I; Herman,G,E. 2003. Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene.  AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Vol. 122A, no. 3. (October): 246-251.
• Lucas,M,E; Ma,Q; Cunningham,D; Peters,J; Cattanach,B; Bard,M; Elmore,B,K; Herman,G,E. 2003. Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast.  MOLECULAR GENETICS AND METABOLISM. Vol. 80, no. 1-2. (September): 227-233.
• Herman,G,E. 2003. Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes.  HUMAN MOLECULAR GENETICS. Vol. 12, no. April: R75-R88.
• Tsao,C,Y; Herman,G; Boue,D,R; Prior,T,W; Lo,W,D; Atkin,J,F; Rusin,J. 2003. Leigh disease with mitochondrial DNA A8344G mutation: Case report and brief review.  JOURNAL OF CHILD NEUROLOGY. Vol. 18, no. 1. (January): 62-64.
• McEntagart,M; Parsons,G; Buj-Bello,A; Biancalana,V; Fenton,I; Little,M; Krawczak,M; Thomas,N; Herman,G; Clarke,A; Wallgren-Petterson,C. 2002. Genotype-phenotype correlations in X-linked myotubular myopathy.  NEUROMUSCULAR DISORDERS. Vol. 12, no. 10. (December): 939-946.
• Herman,G,E; Kelley,R,I; Pureza,V; Smith,D; Kopacz,K; Pitt,J; Sutphen,R; Sheffield,L,J; Metzenberg,A,B. 2002. Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome).  GENETICS IN MEDICINE. Vol. 4, no. 6. (November): 434-438.
• Cunningham,D; Xiao,Q; Chatterjee,A; Sulik,K; Juriloff,D; Elder,F; Harrison,W; Schuster,G; Overbeek,P,A; Herman,G,E. 2002. exma: an X-linked insertional mutation that disrupts forebrain and eye development.  MAMMALIAN GENOME. Vol. 13, no. 4. (April): 179-185.
• Herman, GE, Das, S. 2002. X-linked Myotubular Myopathy.  GeneReviews: Genetic Disease Online Reviews at GeneTests-GeneClinics [online database]. Vol. 00, no. February: e00.
• Herman,G,E; El-Hodiri,H,M. 2002. The role of Zic3 in vertebrate development.  CYTOGENETIC AND GENOME RESEARCH. Vol. 99, no. 1-4. (January): 229-235.
• Herman,Gail,E. 2002. Mouse models of human disease: lessons learned and promises to come.  ILAR journal / National Research Council, Institute of Laboratory Animal Resources. Vol. 43, no. 2. (January): 55-56.
• Herman,G,E; Kopacz,K; Zhao,W; Mills,P,L; Metzenberg,A; Das,S. 2002. Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.  HUMAN MUTATION. Vol. 19, no. 2. (January): 114-121.
• Copley,L,M; Zhao,W,D; Kopacz,K; Herman,G,E; Kioschis,P; Poustka,A; Taudien,S; Platzer,M. 2002. Exclusion of mutations in the MTMR1 gene as a frequent cause of X-linked myotubular myopathy.  AMERICAN JOURNAL OF MEDICAL GENETICS. Vol. 107, no. 3. (January): 256-258.
• Erickson,R,P; Dagenais,S,L; Caulder,M,S; Downs,C,A; Herman,G; Jones,M,C; Kerstjens-Frederikse,W,S; Lidral,A,C; McDonald,M; Nelson,C,C; Witte,M; Glover,T,W. 2001. Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations.  JOURNAL OF MEDICAL GENETICS. Vol. 38, no. 11. (November): 761-766.
• Kelley, RI, Herman GE. 2001. Inborn errors of cholesterol biosynthesis.  Ann Rev Genomics Human Genet. Vol. 2, no. February: 299-341.
• Carrel,T; Herman,G,E; Moore,G,E; Stanier,P. 2001. Lack of mutations in ZIC3 in three families with neural tube defects.  AMERICAN JOURNAL OF MEDICAL GENETICS. Vol. 98, no. 3. (January): 283-285.
• Herman,G,E. 2000. X-linked dominant disorders of cholesterol biosynthesis in man and mouse.  BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS. Vol. 1529, no. 1-3. (December): 357-373.
• Carrel,T; Purandare,S,M; Harrison,W; Elder,F; Fox,T; Casey,B; Herman,G,E. 2000. The X-linked mouse mutation Bent tail is associated with a deletion of the Zic3 locus.  HUMAN MOLECULAR GENETICS. Vol. 9, no. 13. (August): 1937-1942.
• Mallon,A,M; Platzer,M; Bate,R; Gloeckner,G; Botcherby,M,RM; Nordsiek,G; Strivens,M,A; Kioschis,P; Dangel,A; Cunningham,D; Straw,R,NA; Weston,P; Gilbert,M; Fernando,S; Goodall,K; Hunter,G; Greystrong,J,S; Clarke,D; Kimberley,C; Goerdes,M; Blechschmidt,K; Rump,A; Hinzmann,B; Mundy,C,R; Miller,W; Poustka,A; Herman,G,E; Rhodes,M; Denny,P; Rosenthal,A; Brown,S,DM. 2000. Comparative genome sequence analysis of the Bpa/Str region in mouse and man.  GENOME RESEARCH. Vol. 10, no. 6. (June): 758-775.
• Aradhya,S; Nelson,D,L; Heiss,N,S; Poustka,A; Woffendin,H; Kenwrick,S; Esposito,T; Ciccodicola,A; Bardaro,T; D'Urso,M; Smahi,A; Munnich,A; Herman,G,E; Lewis,R,A. 2000. Human homologue of the murine Bare patches/Striated gene is not mutated in Incontinentia Pigmenti type 2.  AMERICAN JOURNAL OF MEDICAL GENETICS. Vol. 91, no. 3. (March): 241-244.
• Derry JM; Gormally E; Means GD; Zhao W; Meindl A; Kelley RI; Boyd Y; Herman GE. 1999. Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com.  Nature Genetics. Vol. 22, no. 3. (July): e286.
• Liu XY; Dangel AW; Kelley RI; Zhao W; Denny P; Botcherby M; Cattanach B; Peters J; Hunsicker PR; Mallon AM; Strivens MA; Bate R; Miller W; Rhodes M; Brown SD; Herman GE. 1999. The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase.  Nature Genetics. Vol. 22, no. 2. (June): e182.
• Herman,G,E; Finegold,M; Zhao,W; de Gouyon,B; Metzenberg,A. 1999. Medical complications in long-term survivors with X-linked myotubular myopathy.  JOURNAL OF PEDIATRICS. Vol. 134, no. 2. (February): 206-214.
• Herman,G,E. 1998. Physical mapping of the mouse genome.  METHODS. Vol. 14, no. 2. (February): 135-151.
• Boyd,Y; Blair,H,J; Cunliffe,P; Denny,P; Gormally,E; Herman,G,E. 1998. Encyclopedia of the mouse genome VII. Mouse chromosome X.  Mammalian genome : official journal of the International Mammalian Genome Society. Vol. 8, no. January: S361-77.
• deGouyon,B,M; Zhao,W; Laporte,J; Mandel,J,L; Metzenberg,A; Herman,G,E. 1997. Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy.  HUMAN MOLECULAR GENETICS. Vol. 6, no. 9. (September): 1499-1504.
• Heiss,N,S; Gloeckner,G; Bachner,D; Kioschis,P; Klauck,S,M; Hinzmann,B; Rosenthal,A; Herman,G,E; Poustka,A. 1997. Genomic structure of a novel LIM domain gene (ZNF185) in Xq28 and comparisons with the orthologous murine transcript.  GENOMICS. Vol. 43, no. 3. (August): 329-338.
• Boyd,Y; Herman,G,E; Avner,P; Disteche,C,M; ADLER,D; Reed,V; Blair,H,J. 1997. Mouse X Chromosome.  MAMMALIAN GENOME. Vol. 7, no. January: S313-S326.
• Uwechue,I,C; Cooper,B,F; Goble,C; Hacker,T; Blair,H,J; Burke,D,T; Herman,G; Boyd,Y. 1996. The mouse X-linked developmental mutant, tattered, lies between DXMit55 and Xkh and is associated with hyperkeratinization.  GENOMICS. Vol. 37, no. 2. (October): 238-241.
• deGouyon,B; Chatterjee,A; Monaco,A; Quaderi,N; Brown,S,DM; Herman,G,E. 1996. Comparative mapping on the mouse X Chromosome defines a myotubular myopathy equivalent region.  MAMMALIAN GENOME. Vol. 7, no. 8. (August): 575-579.
• Dupuis,L; LEONDELRIO,A; Leclerc,D; Campeau,E; Sweetman,L; Saudubray,J,M; Herman,G; Gibson,K,M; Gravel,R,A. 1996. Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency.  HUMAN MOLECULAR GENETICS. Vol. 5, no. 7. (July): 1011-1016.
• Levin,M,L; Chatterjee,A; Pragliola,A; Worley,K,C; Wehnert,M; Zhuchenko,O; Smith,R,F; Lee,C,C; Herman,G,E. 1996. A comparative transcription map of the murine bare patches (Bpa) and striated (Str) critical regions and human Xq28.  GENOME RESEARCH. Vol. 6, no. 6. (June): 465-477.
• Frattini,A; Chatterjee,A; Faranda,S; Sacco,M,G; Villa,A; Herman,G,E; Vezzoni,P. 1996. The chromosome localization and the HCF repeats of the human host cell factor gene (HCFC1) are conserved in the mouse homologue.  GENOMICS. Vol. 32, no. 2. (March): 277-280.
• Herman,G,E; Blair,H,J; Boyd,Y; Brown,S,DM; deGouyon,B; Haynes,A; Quaderi,N. 1996. Mouse X Chromosome.  MAMMALIAN GENOME. Vol. 6, no. January: S317-S330.
• Herman,G,E; Blair,H,J; Boyd,S,D; de Gouyon,B; Haynes,A; Quaderi,N. 1996. Encyclopedia of the mouse genome V. Mouse X chromosome.  Mammalian genome : official journal of the International Mammalian Genome Society. Vol. 6, no. January: S317-30.
• Chatterjee,A; Tanaka,T; Parrish,J,E; Herman,G,E. 1995. 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) CRITICAL REGIONS.  MAMMALIAN GENOME. Vol. 6, no. 11. (November): 802-804.
• Joseph,M; Pai,G,S; Holden,K,R; Herman,G. 1995. X-LINKED MYOTUBULAR MYOPATHY - CLINICAL OBSERVATIONS IN 10 ADDITIONAL CASES.  AMERICAN JOURNAL OF MEDICAL GENETICS. Vol. 59, no. 2. (November): 168-173.
• Pasteris,N,G; deGouyon,B; CADLE,A,B; Campbell,K; Herman,G,E; Gorski,J,L. 1995. CLONING AND REGIONAL LOCALIZATION OF THE MOUSE FACIOGENITAL DYSPLASIA (FGD1) GENE.  MAMMALIAN GENOME. Vol. 6, no. 9. (September): 658-661.
• Rivella,S; Tamanini,F; Bione,S; Mancini,M; Herman,G; Chatterjee,A; Maestrini,E; Toniolo,D. 1995. A COMPARATIVE TRANSCRIPTIONAL MAP OF A REGION OF 250 KB ON THE HUMAN AND MOUSE X-CHROMOSOME BETWEEN THE G6PD AND THE FLN1 GENES.  GENOMICS. Vol. 28, no. 3. (August): 377-382.
• Merrell,K; Gonzales,J,C; Wells,S; Calame,K; Herman,G,E. 1995. GENETIC ANALYSES OF TATTERED, AN X-LINKED DOMINANT, DEVELOPMENTAL MOUSE MUTATION.  MAMMALIAN GENOME. Vol. 6, no. 4. (April): 291-294.
• Dahl,N; Samson,F; Thomas,N,ST; Hu,L,J; Gong,W; Herman,G; Laporte,J; Kioschis,P; Poustka,A; Mandel,J,L. 1994. X-LINKED MYOTUBULAR MYOPATHY (MTM1) MAPS BETWEEN DXS304 AND DXS305, CLOSELY LINKED TO THE DXS455 VNTR AND A NEW, HIGHLY INFORMATIVE MICROSATELLITE MARKER (DXS1684).  JOURNAL OF MEDICAL GENETICS. Vol. 31, no. 12. (December): 922-924.
• Rogner,U,C; Kioschis,P; Wilke,K; Gong,W,L; Pick,E; Dietrich,A; Zechner,U; Hameister,H; Pragliola,A; Herman,G,E; Yates,J,RW; Lehrach,H; Poustka,A. 1994. A YAC CLONE MAP SPANNING 7.5-MEGABASES OF HUMAN-CHROMOSOME BAND-XQ28.  HUMAN MOLECULAR GENETICS. Vol. 3, no. 12. (December): 2137-2146.
• Quaderi,N,A; Meehan,R,R; Tate,P,H; Cross,S,H; Bird,A,P; Chatterjee,A; Herman,G,E; Brown,S,DM. 1994. GENETIC AND PHYSICAL MAPPING OF A GENE ENCODING A METHYL CPG BINDING-PROTEIN, MECP2 TO THE MOUSE X-CHROMOSOME.  GENOMICS. Vol. 22, no. 3. (August): 648-651.
• Chatterjee,A; FAUST,C,J; MOLINARISTOREY,L; KIOCHIS,P; Poustka,A; Herman,G,E. 1994. A 2.3-MB YEAST ARTIFICIAL CHROMOSOME CONTIG SPANNING FROM GABRA3 TO G6PD ON THE MOUSE X-CHROMOSOME.  GENOMICS. Vol. 21, no. 1. (May): 49-57.
• Gariboldi,M; Maestrini,E; Canzian,F; Manenti,G; DEGREGORIO,L; Rivella,S; Chatterjee,A; Herman,G,E; Archidiacono,N; Antonacci,R; Pierotti,M,A; Dragani,T,A; Toniolo,D. 1994. COMPARATIVE MAPPING OF THE ACTIN-BINDING PROTEIN-280 GENES IN HUMAN AND MOUSE.  GENOMICS. Vol. 21, no. 2. (May): 428-430.
• Talente,G,M; Coleman,R,A; Alter,C; Baker,L; BROWN,B,I; Cannon,R,A; Chen,Y,T; Crigler,J,F; Ferreira,P; Haworth,J,C; Herman,G,E; Issenman,R,M; Keating,J,P; Linde,R; Roe,T,F; Senior,B; Wolfsdorf,J,I. 1994. GLYCOGEN-STORAGE-DISEASE IN ADULTS.  ANNALS OF INTERNAL MEDICINE. Vol. 120, no. 3. (February): 218-226.
• Craigen,W,J; Jakobs,C; Sekul,E,A; Levy,M,L; Gibson,K,M; Butler,I,J; Herman,G,E. 1994. D-2-HYDROXYGLUTARIC ACIDURIA IN NEONATE WITH SEIZURES AND CNS DYSFUNCTION.  PEDIATRIC NEUROLOGY. Vol. 10, no. 1. (February): 49-53.
• deGouyon, B, Chatterjee, A, Herman, GE. 1994. Fine genetic and physical mapping of thirteen mouse X chromosome microsatellites.  Mouse Genome. Vol. 92, no. January: 516-19.
• Herman,G,E; Boyd,Y; Chapman,V; Chatterjee,A; Brown,S,DM. 1994. MOUSE X-CHROMOSOME.  MAMMALIAN GENOME. Vol. 5, no. January: S276-S288.
• Daniele,A; FAUST,C,J; Herman,G,E; DINATALE,P; Ballabio,A. 1993. CLONING AND CHARACTERIZATION OF THE CDNA FOR THE MURINE IDURONATE SULFATASE GENE.  GENOMICS. Vol. 16, no. 3. (June): 755-757.
• FAUST,C,J; Gonzales,J,C; Seibold,A; Birnbaumer,M; Herman,G,E. 1993. COMPARATIVE MAPPING ON THE MOUSE AND HUMAN X-CHROMOSOMES OF A HUMAN CDNA CLONE ENCODING THE VASOPRESSIN RENAL-TYPE RECEPTOR (AVP2R).  GENOMICS. Vol. 15, no. 2. (February): 439-441.
• Angel,T,A; FAUST,C,J; Gonzales,J,C; Kenwrick,S; Lewis,R,A; Herman,G,E. 1993. 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.  MAMMALIAN GENOME. Vol. 4, no. 3. (January): 171-176.
• Brown,S,D; Avner,P; Boyd,Y; Chapman,V; Rastan,S; Sefton,L; Thomas,J,D; Herman,G,E. 1993. Encyclopedia of the mouse genome III. October 1993. Mouse X chromosome.  Mammalian genome : official journal of the International Mammalian Genome Society. Vol. 4, no. January: S269-81.
• Chatterjee,A; FAUST,C,J; Herman,G,E. 1993. GENETIC AND PHYSICAL MAPPING OF THE BIGLYCAN GENE ON THE MOUSE X-CHROMOSOME.  MAMMALIAN GENOME. Vol. 4, no. 1. (January): 33-36.
• Gibson, KM, Craigen, W, Herman, GE, Jakobs, C. 1993. D-2-hydroxyglutaric aciduria in a newborn with neurologic abnormalities: A new neurometabolic disorder?.  JOURNAL OF INHERITED METABOLIC DISEASE. Vol. 16, no. January: 497-500.
• Brown,S,DM; Avner,P; Boyd,Y; Chapman,V; Rastan,S; Sefton,L; Thomas,J,D; Herman,G,E. 1993. MOUSE X-CHROMOSOME.  MAMMALIAN GENOME. Vol. 4, no. January: S269-S281.
• Herman, GE. 1993. A method for the isolation of microsatellite repeats from YACs using IRS-PCR and the clone AMP system.  Focus. Vol. 15, no. January: 51-53.
• Northrup,H; Kwiatkowski,D,J; Roach,E,S; Dobyns,W,B; Lewis,R,A; Herman,G,E; Rodriguez,E; Daiger,S,P; Blanton,S,H. 1992. EVIDENCE FOR GENETIC-HETEROGENEITY IN TUBEROUS SCLEROSIS - ONE LOCUS ON CHROMOSOME-9 AND AT LEAST ONE LOCUS ELSEWHERE.  AMERICAN JOURNAL OF HUMAN GENETICS. Vol. 51, no. 4. (October): 709-720.
• FAUST,C,J; Levinson,B; Gitschier,J; Herman,G,E. 1992. 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.  GENOMICS. Vol. 13, no. 4. (August): 1289-1295.
• FAUST,C,J; Verkerk,A,JMH; Wilson,P,J; Morris,C,P; Hopwood,J,J; Oostra,B,A; Herman,G,E. 1992. GENETIC-MAPPING ON THE MOUSE X-CHROMOSOME OF HUMAN CDNA CLONES FOR THE FRAGILE-X AND HUNTER SYNDROMES.  GENOMICS. Vol. 12, no. 4. (April): 814-817.
• Demarquoy,J; Herman,G,E; Lorenzo,I; TRENTIN,J; Beaudet,A,L; OBRIEN,W,E. 1992. LONG-TERM EXPRESSION OF HUMAN ARGININOSUCCINATE SYNTHETASE IN MICE FOLLOWING BONE-MARROW TRANSPLANTATION WITH RETROVIRUS-TRANSDUCED HEMATOPOIETIC STEM-CELLS.  HUMAN GENE THERAPY. Vol. 3, no. 1. (February): 3-10.
• Herman,G,E; Nadeau,J,H; Hardies,S,C. 1992. DISPERSED REPETITIVE ELEMENTS IN MOUSE GENOME ANALYSIS.  MAMMALIAN GENOME. Vol. 2, no. 4. (January): 207-214.
• FAUST,C,J; Herman,G,E. 1991. PHYSICAL MAPPING OF THE LOCI GABRA3, DXPAS8, CAML1, AND RSVP IN A REGION OF THE MOUSE X-CHROMOSOME HOMOLOGOUS TO HUMAN XQ28.  GENOMICS. Vol. 11, no. 1. (September): 154-164.
• Herman,G,E; Berry,M; Munro,E; Craig,I,W; Levy,E,R. 1991. 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.  GENOMICS. Vol. 10, no. 4. (August): 961-970.
• Herman,G,E; FAUST,C,J; DARLISON,M,G; Barnard,E,A. 1991. GENETIC-MAPPING OF THE MOUSE X-CHROMOSOME IN THE REGION HOMOLOGOUS TO HUMAN XQ27-XQ28.  GENOMICS. Vol. 9, no. 4. (April): 670-677.
• Brown,S,D; Avner,P; CHAPMAN,V,M; HAMVAS,R,M; Herman,G,E. 1991. Mouse X chromosome.  Mammalian genome : official journal of the International Mammalian Genome Society. Vol. 1, no. January: S318-31.
• Herman,G,E; Walton,S,J. 1990. CLOSE LINKAGE OF THE MURINE LOCUS BARE PATCHES TO THE X-LINKED VISUAL PIGMENT GENE - IMPLICATIONS FOR MAPPING HUMAN X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA.  GENOMICS. Vol. 7, no. 3. (July): 307-312.
• Arn,P,H; Hauser,E,R; Thomas,G,H; Herman,G; Hess,D; Brusilow,S,W. 1990. HYPERAMMONEMIA IN WOMEN WITH A MUTATION AT THE ORNITHINE CARBAMOYLTRANSFERASE LOCUS - A CAUSE OF POSTPARTUM COMA.  NEW ENGLAND JOURNAL OF MEDICINE. Vol. 322, no. 23. (June): 1652-1655.
• Herman,G,E; JASKOSKI,B; Wood,P,A; TRENTIN,J,J; OBRIEN,W,E; Beaudet,A,L. 1989. EXPRESSION OF HUMAN ARGININOSUCCINATE SYNTHETASE IN MURINE HEMATOPOIETIC-CELLS INVIVO.  SOMATIC CELL AND MOLECULAR GENETICS. Vol. 15, no. 4. (July): 289-296.
• Kirshon,B; Wasserstrum,N; Willis,R; Herman,G,E; McCabe,E,RB. 1988. TERATOGENIC EFFECTS OF 1ST-TRIMESTER CYCLOPHOSPHAMIDE THERAPY.  OBSTETRICS AND GYNECOLOGY. Vol. 72, no. 3. (September): 462-464.
• Herman,G,E; McCabe,E,RB. 1988. CHROMOSOMAL-ABNORMALITIES.  CURRENT OPINION IN NEUROLOGY AND NEUROSURGERY. Vol. 1, no. 3. (May): 364-369.
• Herman,G,E; Greenberg,F; Ledbetter,D,H. 1988. MULTIPLE CONGENITAL ANOMALY MENTAL-RETARDATION (MCA MR) SYNDROME WITH GOLDENHAR COMPLEX DUE TO A TERMINAL DEL(22Q).  AMERICAN JOURNAL OF MEDICAL GENETICS. Vol. 29, no. 4. (April): 909-915.
• Northrup,H; Beaudet,A,L; OBRIEN,W,E; Herman,G,E; Lewis,R,A; Pollack,M,S. 1987. LINKAGE OF TUBEROUS SCLEROSIS TO ABO BLOOD-GROUP.  LANCET. Vol. 2, no. 8562. (October): 804-805.
• Herman,G,E; OBRIEN,W,E; Beaudet,A,L. 1986. AN ESCHERICHIA-COLI BETA-GALACTOSIDASE CASSETTE SUITABLE FOR STUDY OF EUKARYOTIC EXPRESSION.  NUCLEIC ACIDS RESEARCH. Vol. 14, no. 17. (September): 7130-7130.
• Wood,P,A; Herman,G,E; CHAO,C,Y; OBRIEN,W,E; Beaudet,A,L. 1986. RETROVIRUS-MEDIATED GENE-TRANSFER OF ARGININOSUCCINATE SYNTHETASE INTO CULTURED RODENT CELLS AND HUMAN CITRULLINEMIC FIBROBLASTS.  COLD SPRING HARBOR SYMPOSIA ON QUANTITATIVE BIOLOGY. Vol. 51, no. January: 1027-1032.
• CHENG,S,C; Herman,G; Modrich,P. 1985. EXTENT OF EQUILIBRIUM PERTURBATION OF THE DNA HELIX UPON ENZYMATIC METHYLATION OF ADENINE RESIDUES.  JOURNAL OF BIOLOGICAL CHEMISTRY. Vol. 260, no. 1. (January): 191-194.
• Pukkila,P,J; Peterson,J; Herman,G; Modrich,P; Meselson,M. 1983. EFFECTS OF HIGH-LEVELS OF DNA ADENINE METHYLATION ON METHYL-DIRECTED MISMATCH REPAIR IN ESCHERICHIA-COLI.  GENETICS. Vol. 104, no. 4. (January): 571-582.
• Herman,G,E; Modrich,P. 1982. ESCHERICHIA-COLI DAM METHYLASE - PHYSICAL AND CATALYTIC PROPERTIES OF THE HOMOGENEOUS ENZYME.  JOURNAL OF BIOLOGICAL CHEMISTRY. Vol. 257, no. 5. (January): 2605-2612.
• Herman,G,E; Modrich,P. 1981. ESCHERICHIA-COLI K-12 CLONES THAT OVERPRODUCE DAM METHYLASE ARE HYPERMUTABLE.  JOURNAL OF BACTERIOLOGY. Vol. 145, no. 1. (January): 644-646.
• GEIER,G,E; Modrich,P. 1979. RECOGNITION SEQUENCE OF THE DAM METHYLASE OF ESCHERICHIA-COLI-K12 AND MODE OF CLEAVAGE OF DPN-I ENDONUCLEASE.  JOURNAL OF BIOLOGICAL CHEMISTRY. Vol. 254, no. 4. (January): 1408-1413.

• President-elect, American College of Medical Genetics, 2011-present
• Contributing Member, Faculty of 1000, Section of Medical Genetics, 2012-present
• Regular member, NIH Genome Study Section, 1994-1997
• Member, The Jackson Laboratory Informatics Scientific Advisory Board, 2012-present
• Regular member, NIH Mammalian Genetics Study Section, 2002-2004
• Listed, Best Doctors in American, 1996-present
• Chair, NIH Genetics of Health and Disease Study Section, 2004-2006