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Mihael H. Polymeropoulos is the founder and CEO of Vanda Pharmaceuticals, Inc. and Adjunct Professor of Pharmacology at Georgetown University. He is also the scientist that discovered the first gene for Parkinson's disease, alpha-synuclein. As founder of Vanda Pharmaceuticals, Polymeropoulos has led the acquisition, development, and commercialization of several medications in areas of medicine including sleep medicine, psychiatry, and gastrointestinal disorders.

Polymeropoulos' work in Parkinson's disease at the NIH advanced the field when he studied a group of families with inherited Parkinson's disease from Contursi, Italy. This work led to the initial discovery mapping the gene to Chromosome 4, and then to the identification of the gene that was mutated in the families, alpha-synuclein. Polymeropoulos then led the work that established that alpha-synuclein was the protein that was accumulating in the Lewy Body plaques in Parkinson's disease patients.

Polymeropoulos' paper in 1997 describing the discovery of the alpha-synuclein mutation is one of the most cited articles in the world, with nearly 9,000 citations to date. According to Google Scholar, Polymeropoulos is the 24th highest cited researcher in the field of Drug Development and the 115th in Psychiatry.

Biography
Polymeropoulos was born in Patras, Greece and attended the University of Patras Medical School in its inaugural class and graduated from the school in 1983. He then moved to the United States where he completed his post-doctoral work and residency in Psychiatry through the National Institutes of Mental Health at Saint Elizabeth's Hospital in Washington, DC. Polymeropoulos also received a Ph.D. in Molecular Genetics from the University of Patras during this time. Upon completing his residency and post-doctoral work, Polymeropoulos joined the National Human Genome Research Institute at the NIH where he became Lab Head. After the discovery of alpha-synuclein in 1997, Polymeropoulos then joined Novartis Pharmaceuticals as a Vice President where he founded their Pharmacogenetics Department. In 2002, Polymeropoulos left Novartis to start Vanda Pharmaceuticals, Inc. where he became President and CEO. Polymeropoulos currently serves as the President and CEO, and Chairman of the Board of Vanda Pharmaceuticals Inc.

Research
Polymeropoulos completed his post-doctoral work at the NIH in the lab of Sankar Adhya and then joined the NIH as a Scientist in the lab of Carl Merrill.

Pharmaceutical Career
Polymeropoulos founded Vanda Pharmaceuticals in 2003.

Awards
July 2015 National Organization for Rare Disorders (NORD) Industry Innovation Award

Dec. 2019 Physicians Committee for Responsible Medicine Trailblazer Award

Dec. 2021 White Coat Waste Project Greenbaum Policy Pioneer Award

Editorial Positions
1992-1995 Associate Editor, Applied and Theoretical Electrophoresis

1996-2003 Associate Editor, Molecular Psychiatry

Ad hoc reviewer for Science, Nature, Nature Genetics, Nature Medicine, Neurology, Genomics, Annals of Neurology, Human Genetics, Human Molecular Genetics, Neuropsychiatric Genetics

Peer Review Committees
United States Department of Energy

National Institute of Standards and Technology

National Institute of Allergy and Immune Disorders

National Human Genome Research Institute, Institutional Review Board

Selected Patents
8,586,610- Methods for the administration of iloperidone

8,460,867- Methods of treating psychosis and schizophrenia based on polymorphisms in the CNTF gene

Full articles
1. Weber JL, Polymeropoulos MH, May PE, Kwitek AE, Xiao H, McPherson JD, Wasmuth JJ Mapping of human chromosome 5 microsatellite DNA polymorphisms. Genomics, 1991; 11:695-700.

2. Polymeropoulos MH, Xiao H, Merril CR The human D5 dopamine receptor (DRD5) maps on human chromosome 4. Genomics, 1991; 11:777-778.

3. Adams MD, Kelley JM, Gocayne JD, Dubnick M, Polymeropoulos MH, Xiao H, Merril CR, Wu A, Olde B, Moreno RF, et al. Complementary DNA sequencing: expressed sequence tags and human genome project. Science 1991 Jun 21;252(5013):1651-6.

4. Polymeropoulos MH, Xiao H, Glodek A, Gorski M, Adams MD, Moreno RF, Fitzgerald MG, Venter JG, Merril CR. Chromosomal assignment of 46 brain cDNAs. Genomics, 1992; 12:492-496.

5. Khan AS, Wilcox AS, Polymeropoulos MH, Hopkins JA, Stevens TJ, Robinson M, Orpana AK, Sikela JM. Single pass sequencing and physical and genetic mapping of human brain cDNAs. Nat Genet, 1992; 2:180-185.

6. Polymeropoulos MH, Xiao H, Torrey EF, DeLisi L, Crow T, Merril CR Search for a genetic event in monozygotic twins discordant for schizophrenia. Psych Res, 1993; 48:27-36.

7. Polymeropoulos MH, Xiao H, Sikela J, Adams M, Venter J, Merril CR Chromosomal distribution of 320 brain expressed genes. Nat Genet, 1993; 4:381-386.

8. Zullo S, Kennedy JL, Gelernter J, Polymeropoulos MH, Tallini G, Pakstis AJ, Shapiro MB, Merril CR, Kidd KK Eliminating mitochondrial DNA competition for nuclear DNA primers. PCR Methods Appl. 1993; 3:39-45.

9. Polymeropoulos MH, Coon H, Byerley W, et al. Search for a Schizophrenia Susceptibility Locus on Human Chromosome 22. Am J Med Genet (Neuropsychiatric Gen.). 1994; 54:93-99.

10. Meezaman D, Charles P, Daskal E, Polymeropoulos MH, Martin BM, Rose MC. Cloning and analysis of a cDNA encoding a major airway glycoprotein, human tracheobronchial mucin (MUC5). J Biol Chem 1994; 269:12932-12939.

11. James MR, Richard CW, Schott J-J, Yousry C, Clark K, Bell J, Hazan J, Dubay C, Vignal A, Agrapart M, Imai T, Nakamura Y, Polymeropoulos M, Weissenbach J, Cox DR, Lathrop GM. A radiation hybrid map of 506 STS markers spanning human chromosome 11. Nat Genet 1994; 8:70-76.

12. Polymeropoulos MH, Swift RG, Swift M. Linkage of the Wolfram syndrome disease gene with markers on the short arm of human chromosome 4. Nat Genet 1994; 8:95-97.

13. Heinzmann C, Kojis TL, Gonzalez P, Rao PV, Zigler JS, Polymeropoulos MH, Klisak I, Sparkes RS, Mohandas T, Bateman JB. Assignment of the zeta-crystallin gene (CRYZ) to human chromosome 1p22-p31 and identification of restriction fragment length polymorphisms. Genomics 1994 Sep 15; 23(2):403-407.

14. Richard I, Broux O, Chiannilkulchai N, Fougerousse F, Allamand V, Bourg N, Bernguier L, Devaud C, Pasturaud P, Roudaut C, Schultz RA, Polymeropoulos MH, Gyapay G, Beckmann JS. Regional Localization of Human Chromosome 15 loci. Genomics 1994; 23:619-627. 15. Gerken S, Fish K, Polymeropoulos MH, Uyar D, Bradley P, White R, Overhauser J, Silverman GA. A Gene Map for Human Chromosome 18. Genomics 1994; 24:612-613.

16. Yano K, Hidaka A, Saji M, Polymeropoulos MH, Okuno A, Kohn L, Cutler GB. A sporadic case of male-limited precocious puberty has the same constitutively activating point mutation in Luteinizing Hormone Choriogonadotropin receptor gene as familial cases. J Clin End Metabolism. 1994; 79:1818-1823.

17. Pappas GJ, Polymeropoulos MH, Boyle JM, Trent JM. Regional assignment by hybrid mapping of 36 expressed sequence tags (ESTs) on human chromosome 6. Genomics 1995; 25:124-129.

18. Polymeropoulos MH, Poush J, Rubenstein JR, Francomano CA. Localization of the gene for proximal symphalangism to the long arm of human chromosome 17. Genomics 1995; 27:225- 229.

19. Polymeropoulos MH, Torres R, Yanovski JA, Chandrasekharappa SC, Ledbetter DH. The human corticotropin-releasing factor receptor (CRHR) gene maps to chromosome 17q12-q22. Genomics 1995; 28:123-124.

20. Polymeropoulos MH, Ortiz de Luna RI, Ide SE, Torres R, Rubenstein J, Francomano CA. The gene for pyknodysostosis maps to human chromosome 1cen-q21. Nat Genet 1995; 10:238-239.

21. McDowell GA, Gahl WA, Stephenson LA, Schneider JA, Weissenbach J, Polymeropoulos MH, Town MM, van’t Hoff W, Farrall M, Mathew CG. Linkage of the gene for cystinosis to markers on the short arm of chromosome 17. Nat Genet 1995; 10:246-248.

22. Slorach EM, Polymeropoulos MH, Evans KL, Seawright A, Fletcher JM, Porteous DJ, Brookes AJ. Regional localization of 19 brain expressed sequence tags to human chromosome 11 using PCR amplification of somatic cell hybrids. Cytogenetics Cell Genetics 1995; 70:71-75.

23. Polymeropoulos MH, Ide SE, Soares MB, Lennon GG. Sequence characterization and genetic mapping of the human VSNL1 gene a homologue to the rat visinin-like peptide RNVP1. Genomics 1995; 29:273-275.

24. Zimonjic DB, Rezanka LJ, Evans CH, Polymeropoulos MH, Trent JM, Popescu NC. Mapping of the immune interferon gamma gene to chromosome 12q14 by fluorescence in situ hybridization. Cytogenetics and Cell Genetics 1995; 71:247-248.

25. Lee HY, Murata J, Clair T, Polymeropoulos MH, Torres R, Manrow RE, Liotta LA, Stracke ML. Cloning, chromosomal localization, and tissue expression of autotaxin from human teratocarcinoma cells. Biochemical Biophysical Research Communications. 1996. 218:714-719.

26. Lennon G, Auffray C, Polymeropoulos MH, Soares MB. The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expression. Genomics. 1996. 33:151-152.

27. Higgins JJ, Nee LE, Vasconcelos O, Ide SE, Lavedan C, Goldfarb LG, Polymeropoulos MH. Mutations in American families with spinocerebellar ataxia type 3: SCA3 is allelic to Machado-Joseph disease. Neurology 1996; 46:208-213.

28. McDowell G, Isogai T, Tanigami A, Hazelwood S, Ledbetter D, Polymeropoulos MH, Lichter- Konecki U, Konecki D, Town MM, Vant’Hoff W, Weissenbach J, Gahl WA. Fine mapping of the cystinosis gene using an integrated genetic and physical map of a region within chromosome band 17p13. Biochemical and Molecular Medicine 1996; 58:135-141.

29. Zinovieva RD, Duncan MK, Johnson TR, Torres R, Polymeropoulos MH, Tomarev SI. Structure and chromosomal localization of the human homeobox gene Prox 1. Genomics 1996; 35:517-522.

30. Brinkman U, Gallo M, Polymeropoulos MH, Pastan I. The human CAS (Cellular Apoptosis Susceptibility) gene mapping on chromosome 20q13 is amplified in BT474 breast cancer cells and part of abberant chromosomes in breast and colon cancer cell lines. Genome Research. 1996; 6:187-194.

31. Lechleider RJ, de Caestecker MP, Dehejia A, Polymeropoulos MH, Roberts AB. Serine Phosphorylation, chromosomal localization and transforming growth factor-b signal transduction by human bsp-1. The Journal of Biological Chemistry. 1996; 271:17617-17620.

32. Gill M, Vallada H, Collier D, Sham P, Holmans P, Murray R, McGuffin P, Nanko S, Owen M, Antonarakis S, Housman D, Kazazian H, Nestadt G, Pulver AE, Straub RE, MacLean CJ, Walsh D, Kendler KS, DeLisi L, Polymeropoulos M, Coon H, Byerley W, Lofthouse R, Gershon E, Read CM, et al. Schizophrenia Collaborative Linkage Group. A combined analysis of D22S278 marker alleles in affected sib-pairs: Support for a susceptibility locus for schizophrenia at chromosome 22q12. Am Jrnl of Med Genet (Neuropsychiatric Genetics). 1996; 67:40-45.

33. Polymeropoulos MH, Ide SE, Wright M, Goodship J, Weissenbach J, Pyeritz RE, Da Silva EO, Ortiz De Luna RI, Francomano CA. The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16. Genomics 1996; 35:1-5.

34. Johnson MR, Polymeropoulos MH, Vos HL, Ortiz de Luna RI, Francomano CA. A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis. Genome Research. 1996. 6:1050-1055.

35. Ide SE, Ortiz de Luna RI, Francomano CA, Polymeropoulos MH. Exclusion of the MSX1 homeobox gene as the gene for the Ellis van Creveld syndrome in the Amish. Hum Gen. 1996. 98:572-575.

36. Freedman R, Coon H, Myles-Worsley M, Orr-Urteger A, Olincy A, Davis A, Polymeropoulos MH, Holik J, Hopkins J, Hoff M, Rosenthal J, Waldo MC, Reimberr F, Wender P, Yaw J, Young DA, Breese CR, Adams C, Patterson D, Adler LE, Kruglyak L, Leonard S, Byerley W. Linkage of a neurophysiological deficit in schizophrenia to a chromosome 15 locus. Proc Natl Acad Sci. 1997 94:587-592.

37. Gracia E, Ray ME, Polymeropoulos MH, Dehejia A, Meltzer PS, Trent JM. Isolation of chromosome specific ESTs by microdissection mediated cDNA capture. Genome Research. 1997. 7:100-107.

38. Polymeropoulos MH, Ide SE, Magyari T, Francomano CA. Brachydactyly type C gene maps to human chromosome 12q24. Genomics. 1996; 38:45-50.

39. Polymeropoulos MH, Schaffer AA. Search for a Bipolar disorder susceptibility gene in a CEPH family. Mol Psychiatry 1996; 1:404-407.

40. Polymeropoulos MH, Ide SE, Becker K, Naylor SA. Linkage and cytogenetic mapping of a CAG repeat containign human cDNA to chromosome 3p22-p24.2. Cancer Genetics and Cytogenetics. 1996; 88:46-49.

41. Schuler GD, Boguski MS, Stein LD, Gyapay G, Rice K, White RE, Rodriguez-Tome P, Aggarwal A, Bajorek E, Bentolila S, Birren BB, Butler A, Caster AB et al. A Gene Map of the Human Genome. Science 1996; 274:540-546.

42. Polymeropoulos MH, Higgins JJ, Golbe LI, Johnson WG, Ide SE, Di Iorio G, Sanges G, Stenroos ES, Pho LT, Schaffer AA, Lazzarini AM, Nussbaum RL, Duvoisin RC. Mapping of a gene for Parkinson’s disease to chromosome 4q21-q23. Science 1996; 274: 1197-1199.

43. Polymeropoulos MH, Hurko O, Hsu F, Rubenstein J, Basner S, Lane K, Dietz H, Spetzler RF, Rigamonti D. Linkage of the locus for cerebral cavernous hemangiomas to human chromosome 7q in four families of Mexican American descent. Neurology 1997; 48:752-757.

44. Higgins JJ, Ide SE, Oghalai JS, Polymeropoulos MH. Lack of mutations in the biotin-binding region of the pyruvate carboxylase (PC) gene in a family with partial PC deficiency. Clin Biochem 1997; 30:79-81.

45. Higgins JJ, Pho LT, Ide SE, Nee LE, Polymeropoulos MH. Evidence for a new spinocerebellar ataxia locus. Movement Disorders 1997 12:412-417.

46. Becker KG, Nagle JW, Canning RD, Dehejia AM, Polymeropoulos MH, Gado AM, Biddison WE, Drew PD. Molecular cloning and mapping of a novel human KRAB domain-containing C2H2-type zinc finger to chromosome 7q36.1. Genomics 1997. 41:502-504.

47. Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, Root H, Rubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, Di Iorio G, Golbe LI, Nussbaum RL. Mutation in the alpha synuclein gene identified in families with Parkinson’s disease. Science 1997 276:2045-2047.

48. Carstea ED, Morris JA, Coleman KG, Loftus SK, Zhang D, Cummings C, Gu J, Rosenfeld MA, Pavan WJ, Krizman DB, Nagle J, Polymeropoulos MH, Sturley SL, Ioannou YA, Higgins ME, Comly M, Cooney A, Brown A, Kaneski CR, Blanchette-Mackie EJ, Dwyer NK, Neufeld EB, Chang TY, Liscum L, Tagle DA. Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science. 1997. 277:228-231.

49. Becker KG, Lee IJ, Nagle JW, Canning RD, Gado AM, Torres R, Polymeropoulos MH, Massa PT, Biddison WE, Drew PD. C2H2-171: a novel human cDNA representing a

developmentally regulated POZ domain/zinc finger protein preferentially expressed in brain. Int J Dev Neurosci 1997 Nov;15(7):891-9. 50. Drew PD, Gado AM, Canning RD, Nagle JW, Dehejia AM, Polymeropoulos MH, Biddison WE, Jacobson S, Becker KG. C2H2-546: a zinc finger protein differentially expressed in HTLV-1 infected T cells. J Neurovirol 1997 Dec;3(6):455-9.

51. Munoz E, Oliva R, Obach V, Marti MJ, Pastor P, Ballesta F, Tolosa E. Identification of Spanish familial Parkinson's disease and screening for the Ala53Thr mutation of the alpha-synuclein gene in early onset patients. Neurosci Lett 1997 Oct 10;235(1-2):57-60.

52. Luo G, Leroy E, Kozak CA, Polymeropoulos MH, Horowits R. Mapping of the gene (NRAP) encoding N-RAP in the mouse and human genomes. Genomics 1997 Oct 1;45(1):229-32.

53. Nussbaum RL, Polymeropoulos MH. Genetics of Parkinson's disease. Hum Mol Genet 1997;6(10):1687-91.

54. Deloukas P, Schuler GD, Gyapay G, Beasley EM, Soderlund C, Rodriguez-Tome P, Hui L, Matise TC, McKusick KB, Beckmann JS, Bentolila S, Bihoreau M, Birren BB, Browne J, Butler A, Castle AB, Chiannilkulchai N, Clee C, Day PJR, Dehejia A, Dibling T, Drouot N, Duprat S, Fizames C, Fox S, Gelling S, Green L, Harrison P, Hocking R, Holloway E, Hunt S, Keil S, Lijnzaad P, Louis-Dit-Sully C, Ma J, Mendis A, Miller J, Morissette J, Muselet D, Nussbaum HC, Peck A, Rozen S, Simon D, Slonim DK, Staples R, Stein LD, Stewart EA, Suchard MA, Thangarajah T, Vega-Czarny N, Webber C, Wu X, Hudson J, Auffray C, Nomura N, Sikela JM, Polymeropoulos MH, James MR, Lander ES, Hudson TJ, Myers RM, Cox DR, Weissenbach J, Boguski MS, Bentley DR. A physical map of 30,000 human genes. Science 1998, 288:744-746.

55. Leroy E, Anastasopoulos D, Konitsiotis S, Lavedan C, Polymeropoulos MH. Deletions in the Parkin gene and genetic heterogeneity in a Greek family with early onset Parkinson's disease. Hum Genet 1998 Oct;103(4):424-7.

56. Polymeropoulos MH. Autosomal dominant Parkinson's disease. J Neurol 1998 Nov;245(11 Suppl 3):P1-3.

57. Lavedan C, Leroy E, Torres R, Dehejia A, Dutra A, Buchholtz S, Nussbaum RL, Polymeropoulos MH. Genomic organization and expression of the human beta-synuclein gene. Genomics 1998 Nov 15;54(1):173-5.

58. Leroy E, Boyer R, Auburger G, Leube B, Ulm G, Mezey E, Harta G, Brownstein MJ, Jonnalagada S, Chernova T, Dehejia A, Lavedan C, Gasser T, Steinbach PJ, Wilkinson KD, Polymeropoulos MH. The ubiquitin pathway in Parkinson's disease. Nature 1998 Oct 1;395(6701):451-2.

59. Polymeropoulos MH. Autosomal dominant Parkinson's disease and alpha-synuclein. Ann Neurol 1998 Sep;44(3 Suppl 1):S63-4.

60. Lavedan C, Leroy E, Dehejia A, Buchholtz S, Dutra A, Nussbaum RL, Polymeropoulos MH. Identification, localization and characterization of the human gamma-synuclein gene. Hum Genet 1998 Jul;103(1):106-12.

61. Patel SB, Salen G, Hidaka H, Kwiterovich PO, Stalenhoef AF, Miettinen TA, Grundy SM, Lee MH, Rubenstein JS, Polymeropoulos MH, Brownstein MJ. Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21. J Clin Invest 1998 Sep 1;102(5):1041-4.

62. Knutsen T, Mickley LA, Ried T, Green ED, du Manoir S, Schrock E, Macville M, Ning Y, Robey R, Polymeropoulos M, Torres R, Fojo T. Cytogenetic and molecular characterization of random chromosomal rearrangements activating the drug resistance gene, MDR1/P- glycoprotein, in drug-selected cell lines and patients with drug refractory ALL. Genes Chromosomes Cancer 1998 Sep;23(1):44-54.

63. Mezey E, Dehejia A, Harta G, Papp MI, Polymeropoulos MH, Brownstein MJ. Alpha synuclein in neurodegenerative disorders: murderer or accomplice? Nat Med 1998 Jul;4(7):755-7.

64. Lavedan C, Dehejia A, Pike B, Dutra A, Leroy E, Ide SE, Root H, Rubenstein J, Boyer RL, Chandrasekharappa S, Makalowska I, Nussbaum RL, Polymeropoulos MH. Contig map of the Parkinson's disease region on 4q21-q23. DNA Res 1998 Feb 28;5(1):19-23.

65. Stumpo DJ, Eddy RL Jr, Haley LL, Sait S, Shows TB, Lai WS, Young WS 3rd, Speer MC, Dehejia A, Polymeropoulos M, Blackshear PJ. Promoter sequence, expression, and fine chromosomal mapping of the human gene (MLP) encoding the MARCKS-like protein: identification of neighboring and linked polymorphic loci for MLP and MACS and use in the evaluation of human neural tube defects. Genomics 1998 Apr 15;49(2):253-64.

66. Annabi B, Hiraiwa H, Mansfield BC, Lei KJ, Ubagai T, Polymeropoulos MH, Moses SW, Parvari R, Hershkovitz E, Mandel H, Fryman M, Chou JY. The gene for glycogen-storage disease type 1b maps to chromosome 11q23. Am J Hum Genet 1998 Feb;62(2):400-5. 67. Swift RG, Polymeropoulos MH, Torres R, Swift M. Predisposition of Wolfram syndrome heterozygotes to psychiatric illness. Mol Psychiatry 1998 Jan;3(1):86-91.

68. Mezey E, Dehejia AM, Harta G, Suchy SF, Nussbaum RL, Brownstein MJ, Polymeropoulos. Alpha synuclein is present in Lewy bodies in sporadic Parkinson’s disease. Mol Psychiatry 1998 Nov; 3(6):493-499.

69. Gruber SB, Entius MM, Petersen GM, Laken SJ, Longo PA, Boyer R, Levin AM, Mujumdar UJ, Trent JM, Kinzler KW, Vogelstein B, Hamilton SR, Polymeropoulos MH, Offerhaus GJ, Giardiello FM. Pathogenesis of adenocarcinoma in Peutz-Jeghers syndrome. Cancer Res 1998 Dec 1;58(23):5267-70.

70. Torres R, Polymeropoulos MH. Genomic organization and localization of the human CRMP-1 gene. DNA Res 1998 Dec 31;5(6):393-5.

71. Leroy E, Boyer R, Polymeropoulos MH. Intron-exon structure of ubiquitin c-terminal hydrolase-L1. DNA Res 1998 Dec 31;5(6):397-400.

72. Lavedan C, Buchholtz S, Auburger G, Albin RL, Athanassiadou A, Blancato J, Burguera JA, Ferrell RE, Kostic V, Leroy E, Leube B, Mota-Vieira L, Papapetropoulos T, Pericak-Vance MA, Pinkus J, Scott WK, Ulm G, Vasconcelos J, Vilchez JJ, Nussbaum RL, Polymeropoulos MH. Absence of mutation in the beta- and gamma-synuclein genes in familial autosomal dominant Parkinsons's disease. DNA Res 1998 Dec 31;5(6):401-2.

73. Athanassiadou A, Voutsinas G, Psiouri L, Leroy E, Polymeropoulos MH, Ilias A, Maniatis GM, Papapetropoulos T. Genetic analysis of families with parkinson disease that carry the Ala53Thr mutation in the gene encoding alpha-synuclein. Am J Hum Genet 1999 Aug;65(2):555-8.

74. Torres R, Ide SE, Dehejia A, Baras A, Polymeropoulos MH. Genomic structure and localization of the human protein phosphatase 2A BRgamma regulatory subunit. DNA Res. 1999 Oct 29;6(5):323-7.

75. Pi tu G, Eveno E, Soury-Segurens B, Fayein NA, Mariage-Samson R, Matingou C, Leroy E, Dechesne C, Krieger S, Ansorge W, Reguigne-Arnould I, Cox D, Dehejia A, Polymeropoulos MH, Devignes MD, Auffray C. The genexpress IMAGE knowledge base of the human muscle transcriptome: a resource of structural, functional, and positional candidate genes for muscle physiology and pathologies. Genome Res. 1999 Dec;9(12):1313-20.

76. Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet. 2000 Mar;24(3):283-6. Erratum in: Nat Genet 2000 May;25(1):125.

77. Charles V, Mezey E, Reddy PH, Dehejia A, Young TA, Polymeropoulos MH, Brownstein MJ, Tagle DA. Alpha-synuclein immunoreactivity of huntingtin polyglutamine aggregates in striatum and cortex of Huntington’s disease in patients and transgenic mouse models. Neurosci Lett. 2000 Jul 28;289(1):29-32.

78. Zhang J, Hattori N, Leroy E, Morris HR, Kubo S, Kobayashi T, Wood NW, Polymeropoulos MH, Mizuno Y. Association between a polymorphism of ubiquitin carboxy-terminal hydrolase L1 (UCH-L1)gene and sporadic Parkinson’s disease. Parkinsonism Relat Disord. 2000 Oct 1;6(4):195-197.

79. Touchman JW, Dehejia A, Chiba-Falek O, Cabin DE, Schwartz JR, Orrison BM, Polymeropoulos MH, Nussbaum RL. Human and mouse alpha-synuclein genes: comparative genomic sequence analysis and identification of a novel gene regulatory element. Genome Res. 2001 Jan;11(1):78-86. 80. Polymeropoulos MH. Genetics of Parkinson’s disease. Ann N Y Acad Sci. 2000;920:28-32. Review.

81. Torres R, Leroy E, Hu X, Katrivanou A, Gourzis P, Papachatzopoulou A, Athanassiadou A, Beratis S, Collier D, Polymeropoulos MH. Mutation screening of the Wolfram syndrome gene in psychiatric patients. Mol Psychiatry. 2001 Jan;6(1):39-43.

82. Papapetropoulos S, Paschalis C, Athanassiadou A, Papadimitriou A, Ellul J, Polymeropoulos MH, Papapetropoulos T. Clinical phenotype in patients with alpha-synuclein Parkinson’s disease living in Greece in comparison with patients with sporadic Parkinson’s disease. J Neurol Neurosurg Psychiatry. 2001 May;70(5):662-5.

83. Teive HA, Raskin S, Iwamoto FM, Germiniani FM, Baran MH, Werneck LC, Allan N, Quagliato E, Leroy E, Ide SE, Polymeropoulos MH. The G209A mutation in the alpha- synuclein gene in Brazilian families with Parkinson’s disease. Arq Neuropsiquiatr. 2001 Sep;59(3-B):722-4.

84. Dressman MA, Walz TM, Lavedan C, Barnes L, Buchholtz S, Kwon I, Ellis MJ, Polymeropoulos MH. Genes that co-cluster with estrogen receptor alpha in microarray analysis of breast biopsies. Pharmacogenomics J. 2001;1(2):135-41.

85. Lavedan C, Buchholtz S, Nussbaum RL, Albin RL, Polymeropoulos MH. A mutation in the human neurofilament M gene in Parkinson’s disease that suggests a role for the cytoskeleton in neuronal degeneration. Neurosci Lett. 2002 Mar 29;322(1):57-61.

86. Dressman MA, Baras A, Malinowski R, Alvis LB, Kwon I, Walz TM, Polymeropoulos MH. Gene expression profiling detects gene amplification and differentiates tumor types in breast cancer. Cancer Res. 2003 May 1;63(9):2194-9.

87. McLean LA, Gathmann I, Capdeville R, Polymeropoulos MH, Dressman M. Pharmacogenomic analysis of cytogenetic response in chronic myeloid leukemia patients treated with imatinib. Clin Cancer Res. 2004 Jan 1;10(1 Pt 1):155-65.

88. Dressman MA, Malinowski R, McLean LA, Gathmann I, Capdeville R, Hensley M, Polymeropoulos MH; International Randomized Study of Interferon-alpha versus ST1571 Study Group. Correlation of major cytogenetic response with a pharmacogenetic marker in chronic myeloid leukemia patients treated with imatinib (STI571). Clin Cancer Res. 2004 Apr 1;10(7):2265-71.

89. Yamaguchi K, Cochran EJ, Murrell JR, Polymeropoulos MH, Shannon KM, Crowther RA, Goedert M, Ghetti B. Abundant neuritic inclusions of microvacuolar changes in case of diffuse Lewy body disease with the A53T mutation in the alpha-synuclein gene. Acta Neuropathol. 2005 Sep;110(3):298-305. Epub 2005 Jun 25.

90. Lavedan C, Volpi S, Polymeropoulos MH, Wolfgang CD. Effect of a ciliary neurotrophic factor polymorphism on schizophrenia symptom improvement in an iloperidone clinical trial. Pharmacogenomics. 2008 Mar;9(3):289-301. doi: 10.2217/14622416.9.3.289.

91. Weiden PJ, Cutler AJ, Polymeropoulos MH, Wolfgang CD. Safety profile of iloperidone: a pooled analysis of 6-week acute-phase pivotal trials. J Clin Psychopharmacol. 2008 Apr;28(2 Suppl 1):S12-9. doi: 10.1097/JCP.0b013e3181694f5a.

92. Lavedan C, Licamele L, Volpi S, Hamilton J, Heaton C, Mack K, Lannan R, Thompson A, Wolfgang CD, Polymeropoulos MH. Association of the NPAS3 gene and five other loci with response to antipsychotic iloperidone identified in a whole genome association study. Mol Psychiatry. 2009 Aug;14(8):804-19. doi: 10.1038/mp.2008.56. Epub 2008 Jun 3.

93. Volpi S, Heaton C, Mack K, Hamilton JB, Lannan R, Wolfgang CD, Licamele L, Polymeropoulos MH, Lavedan C. Whole genome association study identifies polymorphisms associated with QT prolongation during iloperidone treatement of schizophrenia. Mol Psychiatry. 2009 Nov;14(11):1024-31. doi: 10.1038/mp.2008.52. Epub 2008 Jun 3.

94. Rajaratnam SM, Polymeropoulos MH, Fisher DM, Roth T, Scott C, Birznieks G, Klerman EB. Melatonin agonist tasimelteon (VEC-162) for transient insomnia after sleep-time shift: two randomized controlled multicenter trials. Lancet. 2009 Feb 7;373(9662):482-91. doi: 10.1016/S0140-6736(08)61812-7. Epub 2008 Dec 4. Erratum in: Lancet. 2009 Apr 11;373(9671):1252.

95. Polymeropoulos MH, Licamele L, Volpi S, Mack K, Mitkus SN, Carstea ED, Getoor L, Thompson A, Lavedan C. Common effect of antipsychotics on the biosynthesis and regulation of fatty acids and cholesterol supports a key role of lipid homeostasis in schizophrenia. Schizophr Res. 2009 Mar;108(1-3):134-42. doi: 10.1016/j.schres.2008.11.025. Epub 2009 Jan 15.

96. Lockley SW, Dressman MA, Licamele L, Xiao C, Fisher DM, Flynn-Evans EE, Hull JT, Torres R, Lavedan C, Polymeropoulos MH. Tasimelteon for non-24-hour sleep-wake disorder in totally blind people (SET and RESET): two multicentre, randomised, double-masked, placebo-controlled phase 3 trials. Lancet. 2015 Oct 31;386(10005):1754-64. doi: 10.1016/S0140-6736(15)60031-9. Epub 2015 Aug 4.

97. Polymeropoulos MH. Revisiting the History of the 1997 Alpha-Synuclein Discovery in Parkinson's Disease. J Parkinsons Dis. 2019;9(2):443-444. doi: 10.3233/JPD-191569.

98. Smieszek SP, Welsh S, Xiao C, Wang J, Polymeropoulos C, Birznieks G, Polymeropoulos MH. Correlation of age-of-onset of Atopic Dermatitis with Filaggrin loss-of-function variant status. Sci Rep. 2020 Feb 17;10(1):2721. doi: 10.1038/s41598-020-59627-7.

99. Smieszek SP, Przychodzen BP, Polymeropoulos MH. Amantadine disrupts lysosomal gene expression: A hypothesis for COVID19 treatment. Int J Antimicrob Agents. 2020 Jun;55(6):106004. doi: 10.1016/j.ijantimicag.2020.106004. Epub 2020 Apr 30.

100. Carlin JL, Lieberman VR, Dahal A, Keefe MS, Xiao C, Birznieks G, Abell TL, Lembo A, Parkman HP, Polymeropoulos MH. Efficacy and Safety of Tradipitant in Patients With Diabetic and Idiopathic Gastroparesis in a Randomized, Placebo-Controlled Trial. Gastroenterology. 2020 Jul 18:S0016-5085(20)34958-1. doi: 10.1053/j.gastro.2020.07.029. Epub ahead of print.

101. Polymeropoulos CM, Mohrman MA, Keefe MS, Brzezynski JL, Wang J, Prokosch LS, Polymeropoulos VM, Xiao C, Birznieks G, Polymeropoulos MH. Efficacy of Tasimelteon (HETLIOZ ) in the Treatment of Jet Lag Disorder Evaluated in an 8-h Phase Advance Model; a Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial. Front Neurol. 2020 Jul 9;11:611. doi: 10.3389/fneur.2020.00611.

102. Polymeropoulos VM, Czeisler M, Gibson MM, Anderson AA, Miglo J, Wang J, Xiao C, Polymeropoulos CM, Birznieks G, Polymeropoulos MH. Tradipitant in the Treatment of Motion Sickness: A Randomized, Double-Blind, Placebo-Controlled Study. Front Neurol. 2020 Sep 29;11:563373. doi: 10.3389/fneur.2020.563373. PMID: 33117260; PMCID: PMC7550735.

103. Welsh SE, Xiao C, Kaden AR, Brzezynski JL, Mohrman MA, Wang J, Smieszek SP, Przychodzen B, St nder S, Polymeropoulos C, Birznieks G, Polymeropoulos MH. Neurokinin-1 receptor antagonist tradipitant has mixed effects on itch in atopic dermatitis: results from EPIONE, a randomized clinical trial. J Eur Acad Dermatol Venereol. 2021 May;35(5):e338-e340. doi: 10.1111/jdv.17090. Epub 2021 Jan 7. PMID: 33330999; PMCID: PMC8248080.

104. Smieszek SP, Przychodzen B, Welsh SE, Brzezynski JL, Kaden AR, Mohrman M, Wang J, Xiao C, St nder S, Birznieks G, Polymeropoulos C, Polymeropoulos MH. Genomic and phenotypic characterization of Investigator Global Assessment (IGA) scale-based endotypes in atopic dermatitis. J Am Acad Dermatol. 2021 Dec;85(6):1638-1640. doi: 10.1016/j.jaad.2020.11.072. Epub 2021 Jan 7. PMID: 33421484.

105. Van Draanen L, Xiao C, Polymeropoulos MH. Estimating Burden of Disease Among Blind Individuals With Non-24-Hour Sleep-Wake Disorder. Front Neurol. 2021 Jan 21;11:605240. doi: 10.3389/fneur.2020.605240. PMID: 33551967; PMCID: PMC7859444.

106. Torres R, Fisher M, Birznieks G, Polymeropoulos C, Kay GG, Xiao C, Polymeropoulos MH. Simulated driving performance in healthy adults after night-time administration of 20 mg tasimelteon. J Sleep Res. 2022 Feb;31(1):e13430. doi: 10.1111/jsr.13430. Epub 2021 Jun 21. PMID: 34152055.

107. Smieszek SP, Polymeropoulos VM, Xiao C, Polymeropoulos CM, Polymeropoulos MH. Loss-of-function mutations in IFNAR2 in COVID-19 severe infection susceptibility. J Glob Antimicrob Resist. 2021 Sep;26:239-240. doi: 10.1016/j.jgar.2021.06.005. Epub 2021 Jul 15. PMID: 34273592; PMCID: PMC8279933.

108. Polymeropoulos CM, Brooks J, Czeisler EL, Fisher MA, Gibson MM, Kite K, Smieszek SP, Xiao C, Elsea SH, Birznieks G, Polymeropoulos MH. Tasimelteon safely and effectively improves sleep in Smith-Magenis syndrome: a double-blind randomized trial followed by an open-label extension. Genet Med. 2021 Dec;23(12):2426-2432. doi: 10.1038/s41436-021-01282-y. Epub 2021 Jul 27. PMID: 34316024; PMCID: PMC8629754.

109. Smieszek SP, Przychodzen BP, Polymeropoulos VM, Polymeropoulos CM, Polymeropoulos MH. Assessing the potential correlation of polymorphisms in the IL6R with relative IL6 elevation in severely ill COVID-19 patients'. Cytokine. 2021 Dec;148:155662. doi: 10.1016/j.cyto.2021.155662. Epub 2021 Jul 29. Erratum in: Cytokine. 2022 Jan;149:155752. PMID: 34353696; PMCID: PMC8318728.

110. Smieszek SP, Brzezynski JL, Kaden AR, Shinn JA, Wang J, Xiao C, Polymeropoulos C,  z elik T, Polymeropoulos MH. An observational study investigating the CRY1Δ11 variant associated with delayed sleep-wake patterns and circadian metabolic output. Sci Rep. 2021 Oct 11;11(1):20103. doi: 10.1038/s41598-021-99418-2. PMID: 34635699; PMCID: PMC8505610.

Polymorphism reports
111. Weber JL, Kwitek AE, May PE, Polymeropoulos MH. Dinucleotide repeat polymorphism at the D12S43 locus. Nucleic Acids Research, 1990; 18:15, 4637.

112. Polymeropoulos MH, Rath DS, Xiao H, Merril CR. Trinucleotide repeat polymorphism at the human intestinal fatty acid binding protein gene (FABP2). Nucleic Acids Research, 1990; 18:23, 7198.

113. Polymeropoulos MH, Xiao H, Rath DS, Merril CR. Dinucleotide repeat polymorphism at the human thrombospondin gene (THBS1). Nucleic Acids Research, 1990; 18:24, 7467.

114. Polymeropoulos MH, Xiao H, Rath DS, Merril CR. Dinucleotide repeat polymorphism at the int-2 proto-oncogene locus (INT2). Nucleic Acids Research, 1990; 18:24, 7468.

115. Polymeropoulos MH, Xiao H, Rath DS, Merril CR. Trinucleotide repeat polymorphism at the human pancreatic phospholipase A-2 gene (PLA2). Nucleic Acids Research, 1990; 18:24, 7468.

116. Polymeropoulos MH, Rath DS, Xiao H, Merril CR. Tetranucleotide repeat polymorphism at the human aromatase cytochrome P-450 gene (CYP19). Nucleic Acids Research, 1991; 19:1, 195.

117. Polymeropoulos MH, Rath DS, Xiao H, Merril CR. Dinucleotide repeat polymorphism at the human preproglucagon gene. Nucleic Acids Research, 1991; 19:3, 688.

118. Polymeropoulos MH, Xiao H, Rath DS, Merril CR. Dinucleotide repeat polymorphism at the human interleukin 9 gene. Nucleic Acids Research, 1991; 19:3, 688.

119. Polymeropoulos MH, Rath DS, Xiao H, Merril CR A simple sequence repeat polymorphism at the human growth hormone locus. Nucleic Acids Research, 1991; 19:3, 689.

120. Polymeropoulos MH, Rath DS, Xiao H, Merril CR. Dinucleotide repeat polymorphism at the human ankyrin gene (ANK1). Nucleic Acids Research, 1991; 19:4, 969.

121. Polymeropoulos MH, Xiao H, Rath DS, Merril CR. Dinucleotide repeat polymorphism at the human c-fms proto-oncogene for the CSF-1 receptor(CFS1R). Nucleic Acids Research, 1991; 19:5, 1160.

122. Polymeropoulos MH, Xiao H, Rath DS, Merril CR. Dinucleotide repeat polymorphism at the human cysteine-proteinase inhibitor pseudogene (CSTP1). Nucleic Acids Research, 1991; 19:5, 1164.

123. Polymeropoulos MH, Xiao H, Rath DS, Merril CR. Dinucleotide repeat polymorphism at the human MHC class I CD8 alpha-chain (Leu-2/T8) gene. Nucleic Acids Research, 1991; 19:7, 1718.

124. Polymeropoulos MH, Rath DS, Xiao H, Merril CR. Dinucleotide repeat polymorphism at the human debrisoquine 4-hydroxylase (CYP2D) locus. Nucleic Acids Research, 1991; 19:8, 1961.

125. Polymeropoulos MH, Xiao H, Rath DS, Merril CR. Dinucleotide repeat polymorphism at the human gene of the light and heavy chains of myeloperoxidase glycoprotein (HSMPOG). Nucleic Acids Research, 1991; 19:8, 1961.

126. Polymeropoulos MH, Rath DS, Xiao H, Merril CR. Dinucleotide repeat polymorphism at the human liver-type 6-phosphofructokinase (PFKL) gene. Nucleic Acids Research, 1991; 19:9, 2517.

127. Polymeropoulos MH, Rath DS, Xiao H, Merril CR. Dinucleotide repeat polymorphism at the human fms-related tyrosine kinase gene (FLT1). Nucleic Acids Research, 1991; 19:10, 2803.

128. Polymeropoulos MH, Xiao H, Rath DS, Merril CR. Tetranucleotide repeat polymorphism at the human tyrosine hydroxylase gene (TH). Nucleic Acids Research, 1991; 19:13, 3753.

129. Polymeropoulos MH, Xiao H, Rath DS, Merril CR Dinucleotide repeat polymorphism at the human non-histone chromosomal protein HMG14 gene. Nucleic Acids Research, 1991; 19:13, 3753.

130. Polymeropoulos MH, Rath DS, Xiao H, Merril CR. Tetranucleotide repeat polymorphism at the human c-fes/fps proto-oncogene (FES). Nucleic Acids Research, 1991; 19:14, 4018.

131. Polymeropoulos MH, Xiao H, Rath DS, Merril CR. Dinucleotide repeat polymorphism at the human CTLA4 gene. Nucleic Acids Research, 1991; 19:14, 4018.

132. Polymeropoulos MH, Xiao H, Rath DS, Merril CR. Dinucleotide repeat polymorphism at the human cardiac beta-myosin gene. Nucleic Acids Research, 1991; 19:14, 4019.

133. Polymeropoulos MH, Rath DS, Xiao H, Merril CR. Dinucleotide repeat polymorphism at the human ATP synthase beta subunit gene (ATPSB). Nucleic Acids Research, 1991; 19:14, 4019.

134. Polymeropoulos MH, Xiao H, Rath DS, Merril CR. Trinucleotide repeat polymorphism at the human met-tRNA-i gene 1 (TRMI). Nucleic Acids Research, 1991 19:15, 4306.

135. Polymeropoulos MH, Rath DS, Xiao H, Merril CR. Tetranucleotide repeat polymorphism at the human coagulation factor XIII A subunit gene (F13A1). Nucleic Acids Research, 1991; 19:15, 4306.

136. Polymeropoulos MH, Rath DS, Xiao H, Merril CR. Trinucleotide repeat polymorphism at the human transcription factor IID gene. Nucleic Acids Research, 1991; 19:15, 4307.

137. Polymeropoulos MH, Xiao H, Rath DS, Merril CR. Trinucleotide repeat polymorphism at the human gamma-B-crystallin gene. Nucleic Acids Research, 1991; 19:16, 4571.

138. Polymeropoulos MH, Xiao H, Rath DS, Merril CR. Tetranucleotide repeat polymorphism at the human prostatic acid phosphatase (ACPP) gene. Nucleic Acids Research, 1991; 19:17, 4792.

139. Polymeropoulos MH, Xiao H, Rath DS, Merril CR. Tetranucleotide repeat polymorphism at the human dihydrofolate reductase psi-2 pseudogene (DHFRP2). Nucleic Acids Research, 1991; 19:17, 4792.

140. Wilkie PJ, Polymeropoulos MH, Trent JM, Small KW, Weber JL. Genetic and physical map of short tandem repeat polymorphisms on human chromosome 6. Genomics, 1993; 15: 225-227.

141. Rath DS, Xiao H, Merril CR. Dinucleotide repeat polymorphism at the human gene for insulin-like growth factor I (IGFI). Nucleic Acids Research, 1991; 19:20, 5797.

142. Polymeropoulos MH, Rath DS, Xiao H, Merril CR. Dinucleotide repeat polymorphism at the human b1 subunit of the GABAA receptor gene (GABRB1). Nucleic Acids Research, 1991; 19:22, 6345.

143. Polymeropoulos MH, Rath DS, Xiao H, Merril CR. Tetranucleotide repeat polymorphism at the human beta-actin related pseudogene H-beta-Ac-psi-2 (ACTBP2). Nucleic Acids Research, 1992; 20:6, 1432.

144. Polymeropoulos MH, Xiao H, Rath DS, Merril CR. Dinucleotide repeat polymorphism at the human c-myc oncogene locus (MYC). Human Molecular Genetics, 1992; 1:1, 65.

145. Polymeropoulos MH, Xiao H, Rath DS, Merril CR. Dinucleotide repeat polymorphism at the D5S356 locus. Human Molecular Genetics, 1992; 1:4, 290.

146. Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, Root H, Rubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, Di Iorio G, Golbe LI, Nussbaum RL. Mutation in the alpha synuclein gene identified in families with Parkinson’s disease. Science 1997 276:2045-2047Xiao H, Merril CR, Polymeropoulos MH. Dinucleotide repeat polymorphism at the D3S1229 locus. Human Molecular Genetics, 1992; 1:4, 290.

147. Xiao H, Merril CR, Polymeropoulos MH. Dinucleotide repeat polymorphism at the D7S476 locus. Human Molecular Genetics, 1992; 1:7, 549.

148. Polymeropoulos MH, Xiao H, Merril CR. Dinucleotide repeat polymorphism at the D18S74E locus. Human Molecular Genetics, 1992; 1:9, 779.

149. Xiao H, Ide SE, Merril CR, Polymeropoulos MH. Dinucleotide repeat polymorphism at the D11S982E locus. Hum. Mol. Genet., 1993; 2:1081.