Dr. Philip D. Cotter
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Dr. Philip D. Cotter

Associate Professor
University of California, USA

Highest Degree
PostDoc Fellow in Molecular Sciences from Mount Sinai School of Medicine, USA

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Biography

Dr. Philip D. Cotter obtained his PhD in Human Genetics from City University of New York, USA. Currently he is working as Associate Clinical Professor at Department of Pediatrics, College of Medicine, University of California San Francisco, San Francisco, CA and Laboratory Director, Principal and Co-Founder in Research Dx LLC, Irvine, CA. His prior working experience includes Clinical Cytogeneticist, at Princess Mary Childrens Hospital, Postdoctoral Fellow and Assistant Director in American Board of Medical Genetics Training Program, Department of Human Genetics, Mount Sinai School of Medicine, New York, NY, Adjunct Assistant Professor at University of California San Francisco, San Francisco, CA, Associate Medical Director at Cytogenetics and Molecular Genetics, US Labs Inc Irvine, CA, Vice President of Clinical Laboratories and Laboratory Director, Biocept Laboratories, San Diego, CA. Dr. Philip received honors include March of Dimes Birth Defects Foundation Predoctoral Graduate Research Training Fellowship, American Society of Human Genetics Predoctoral Clinical Research Award, Auckland Area Health Board School of Medical Laboratory Technology, Cytogenetics Specialist Level Award. He is member of following scientific societies, American College of Medical Genetics, American College of Obstetricians and Gynecologists, American Society for the Advancement of Science, American Society for Reproductive Medicine, American Society of Hematology, American Society of Human Genetics, Association of Clinical Cytogeneticists, Association of Genetic Technologists, Association for Molecular Pathology, British Society for Human Genetics, Clinical Laboratory Management Association, European Society of Human Reproduction and Embryology, The Harvey Society, International Society for Prenatal Diagnosis, and New Zealand Institute of Medical Laboratory Science. He is also serving as reviewer in number of journals, and member of editorial board in many journals. He is also member of advisory board. He has published 96 articles in journals, 3 chapters in books, 129 abstracts presented in meetings.

Area of Interest:

Biomedical Sciences
100%
Cytogenetics
62%
Molecular Diagnostics
90%
Regulatory T Cells
75%
Pathology
55%

Research Publications in Numbers

Books
0
Chapters
0
Articles
0
Abstracts
0

Selected Publications

  1. Phin, S., D. Babu, M.W. Moore and P.D. Cotter, 2014. Fluorescence in situ hybridization (FISH)-based companion diagnostics in oncology. Trends Cancer Res., 10: 93-102.
  2. Phin, S., M.W. Moore and P.D. Cotter, 2013. Genomic rearrangements of PTEN in prostate cancer. Front. Oncol., Vol. 3. 10.3389/fonc.2013.00240.
    CrossRef  |  PubMed  |  Direct Link  |  
  3. Sills, E.S., P.D. Cotter, K.D. Marron, L.V. Shkrobot, H.M. Walsh and R.D. Salem, 2012. Ovarian dysgenesis associated with an unbalanced X;6 translocation: first characterization of reproductive anatomy and cytogenetic evaluation in partial trisomy 6 with breakpoints at Xq22 and 6p23. Mol. Med. Report., 5: 29-31.
    Direct Link  |  
  4. Moore, M.W., D. Babu, P.D. Cotter, 2012. Challenges in the codevelopment of companion diagnostics. Personalized Med., 9: 485-496.
    CrossRef  |  Direct Link  |  
  5. Moore, M.W., D. Babu and P.D. Cotter, 2012. Companion diagnostics and personalized medicine: A review of molecular diagnostic applications. Curr. Topics Genet., 5: 23-30.
    Direct Link  |  
  6. Huang, B., P. Pearle, K.A. Rauen and P.D. Cotter, 2012. Supernumerary marker chromosomes derived from chromosome 6: cytogenetic, molecular cytogenetic, and array CGH characterization. Am. J. Med. Genet. A., 158A: 1568-1573.
    CrossRef  |  PubMed  |  Direct Link  |  
  7. Hambuch, T., B. Sickler, A. Liao, S. Jain and P.D. Cotter, 2012. Whole genome sequencing in the clinical laboratory. In: Modern Clinical Molecular Techniques, Hu, P., M. Hegde and P.A. Lennon (Eds.). Springer-Verlag, New York, USA..
  8. Cotter, P.D., D. Babu and M.W. Moore, 2012. A new paradigm for personalized medicine and companion diagnostics: The Contract Diagnostics Organization. Open Conf. Proc. J., 3: 52-58.
  9. McCarthy, D.R., P.D. Cotter and M.M. Hanna, 2011. MethylMeter(r): A Quantitative, Sensitive, and Bisulfite-Free Method for Analysis of DNA Methylation. In: DNA Methylation, Tatarinova, T. (Ed.). InTech, Rijeka, Croatia.
  10. Mayer, J.A., T. Pham, K.L. Wong, J. Scoggin and E.V. Sales et al., 2011. FISH-based determination of HER2 status in circulating tumor cells isolated with the microfluidic CEE™ platform. Cancer Genet., 204: 589-595.
    CrossRef  |  PubMed  |  Direct Link  |  
  11. Dawson, A.J., S. Bal, B. McTavish, M. Tomiuk and I. Schroedter et al., 2011. Inversion and deletion of 16q22 defined by array CGH, FISH, and RT-PCR in a patient with AML. Cancer Genet., 204: 344-347.
    CrossRef  |  PubMed  |  Direct Link  |  
  12. AMP Whole Genome Analysis Working Group, 2011. The Association for Molecular Pathology's approach to supporting a global agenda to embrace personalized genomic medicine. J. Mol. Diagn., 13: 249-251.
    CrossRef  |  PubMed  |  Direct Link  |  
  13. Jelin, A., H. Perry, J. Hogue, S. Oberoi, P.D. Cotter and O.D. Klein, 2010. Clefting in trisomy 9p patients: Genotype-phenotype correlation using microarray comparative genomic hybridization. J. Craniofac. Surg., 21: 1376-1379.
    CrossRef  |  PubMed  |  Direct Link  |  
  14. Golabi, M., A.W. James, W.V. Good and P.D. Cotter, 2010. Tissue-limited mosaicism for monosomy 13. Am. J. Med. Genet. A., 152A: 2634-2639.
    CrossRef  |  PubMed  |  Direct Link  |  
  15. Ramsaroop, R., P. Oei, D. Ng, N. Kumar and P.D. Cotter, 2009. Cervical intraepithelial neoplasia and aneusomy of TERC: Assessment of liquid-based cytological preparations. Diagn. Cytopathol., 37: 411-415.
    CrossRef  |  PubMed  |  Direct Link  |  
  16. Paskulin, G.A., M. Riegel, P.D. Cotter, A. Kiss and R.F. Rosa et al., 2009. Inv dup del(4)(:p13 → p16.3::p16.3 → qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome. Am. J. Med. Genet. A., 149A: 1302-1307.
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  17. Golabi, M., A.W. James, N. Desai, K. Culver and P.D. Cotter, 2009. Gardner-Silengo-Wachtel or genito-palato-cadiac syndrome with associated autosomal aneuploidy. Am. J. Med. Genet. A., 149A: 693-697.
    CrossRef  |  PubMed  |  Direct Link  |  
  18. Marco, E.J., F.E. Abidi, J. Bristow, W.B. Dean and P. Cotter et al., 2008. ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal. J. Med. Genet., 45: 100-105.
    PubMed  |  
  19. Gunn, S.R., M.S. Mohammed, M.E. Gorre, P.D. Cotter and J. Kim et al., 2008. Whole-genome scanning by array comparative genomic hybridization as a clinical tool for risk assessment in chronic lymphocytic leukemia. J. Mol. Diagn., 10: 442-451.
    CrossRef  |  PubMed  |  Direct Link  |  
  20. Glass, I.A., P.D. Cotter and S.M. Gospe, 2008. Other Chromosomal Disorders. In: Current Management in Child Neurology, Maria, B.L., BC Decker Inc., Shelton, C.T..
  21. Tokuyasu, T.A., P.D. Cotter, R. Segraves, J. Harris, M.E. Elder, M. Gonzales and K.A. Rauen, 2007. Detection of single clone deletions using array cgh: identification of submicroscopic deletions in the 22q11. 2 deletion syndrome as a model system Am. J. Med. Genet., 143: 925-932.
    CrossRef  |  Direct Link  |  
  22. Paskulin, G.A., P.R. Zen, R.F. Rosa, R.C. Manique and P.D. Cotter, 2007. Report of a child with a complete de novo 17p duplication localized to the terminal region of the long arm of chromosome 17. Am. J. Med. Genet., 143: 1366-1370.
    CrossRef  |  Direct Link  |  
  23. Klein, O.D., P.D. Cotter, M.W. Moore, A. Zanko, M. Gilats, C.J. Epstein and K.A. Rauen, 2007. Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array cgh. Clin. Genet., 71: 260-266.
    CrossRef  |  Direct Link  |  
  24. McGhee, E.M., P.D. Cotter, J.F. Weier, J.W. Berline, M.A.Turner, M. Gormley and J.M. Palefsky, 2006. Molecular cytogenetic characterization of human papillomavirus16-transformed foreskin keratinocyte cell line 16-mt. Cancer. Genet. Cytogenet., 168: 36-43.
    CrossRef  |  Direct Link  |  
  25. Iglesias, A., K.A. Rauen, D.G. Albertson, D. Pinkel and P.D. Cotter, 2006. Duplication of distal 20q: clinical, cytogenetic and array cgh characterization of a new case. Clin. Dysmorphol., 15: 19-23.
    Direct Link  |  
  26. Glass, I.A., K.A. Rauen, E. Chen, J. Parkes, D.G. Alberston, D. Pinkel and P.D. Cotter, 2006. Ring chromosome 15: characterization by array cgh. Hum.Genet., 118: 611-617.
    CrossRef  |  Direct Link  |  
  27. Glass, I.A, L. Li and P.D. Cotter, 2006. Double aneuploidy (48,xxy,+21): molecular analysis demonstrates a maternal origin. Eur. J. Med. Genet., 49: 346-348.
    CrossRef  |  Direct Link  |  
  28. Estep, A.L., W.E. Tidyman, M.A. Teitell, P.D. Cotter and K.A. Rauen, 2006. Hras mutations in costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. Am. J. Med. Genet., 140: 8-16.
    CrossRef  |  Direct Link  |  
  29. Tsai, A.C.H., M. DiGiovanni, C. Walton and P.D.Cotter, 2005. De novo duplication of the short arm of chromosome 12: dup (12)(p13. 1p13. 3). Am. J. Med. Genet., 134: 229-230.
    CrossRef  |  Direct Link  |  
  30. Sherr, E.H., R. Owen, D.G. Albertson, D. Pinkel, P.D. Cotter, A.M. Slavotinek and A.J. Barkovich, 2005.. Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies. Neurology., 65: 1496-1498.
    CrossRef  |  Direct Link  |  
  31. Park, J.W., R. Zarnegar, H. Kanauchi, M.G. Wong and W.C. Hyun et al., 2005. Troglitazone, the peroxisome proliferator-activated receptor-γ agonist, induces antiproliferation and redifferentiation in human thyroid cancer cell lines. Thyroid., 15: 222-231.
    CrossRef  |  Direct Link  |  
  32. Mukhopadhyay, S., J. Readling, P.D. Cotter, A.E. Shrimpton and J.S. Sidhu, 2005. Transformation of follicular lymphoma to burkitt-like lymphoma within a single lymph node. Hum. Pathol., 36: 571-575.
    CrossRef  |  Direct Link  |  
  33. Klein, O.D., P.D. Cotter, A.M. Schmidt, D.P. Bick, W.E. Tidyman, D.G. Albertson and K.A. Rauen, 2005. Interstitial deletion of chromosome 12q: genotype-phenotype correlation of two patients utilizing array comparative genomic hybridization. Am. J. Med. Genet., 138: 349-354.
    CrossRef  |  Direct Link  |  
  34. Klein, O.D., K. Backstrand, P.D. Cotter, E. Marco, E. Sherr and A. Slavotinek, 2005. Case report: y; 6 translocation with deletion of 6p. Clin. Dysmorphol., 14: 93-96.
    Direct Link  |  
  35. Cotter, P.D., K. Drexler, , A.L. Corley, S.M. Covert, J.S. Moland, I.J. Govberg and M.E. Norton, 2005. Prenatal diagnosis of minute supernumerary marker chromosomes. Gynecol. Obstet. Invest., 60: 27-38.
    CrossRef  |  Direct Link  |  
  36. Cotter, P.D., H. Nguyen, G. Tung and K.A. Rauen, 2005. Incidence of microduplication 22q11.2 among patients referred for fish testing for velo-cardio-facial and digeorge syndromes. Eur. J. Hum. Genet., 13: 1245-1246.
    CrossRef  |  Direct Link  |  
  37. Cotter, P.D. and M.E. Norton, 2005.. Y chromosome heterochromatin size variation at prenatal diagnosis. Prenat. Diagn., 25: 1062-1063.
    CrossRef  |  Direct Link  |  
  38. Cheng, S.F., K.A. Rauen, D. Pinkel, D.G. Albertson and P.D. Cotter, 2005. Xq chromosome duplication in males: clinical, cytogenetic and array cgh characterization of a new case and review. Am. J. Med. Genet., 135: 308-313.
    CrossRef  |  Direct Link  |  
  39. Betz, J.L., A.S. Behairy, P. Rabionet, B. Tirtorahardjo, M.W. Moore and P.D. Cotter, 2005. Acquired inv (9): what is its significance?. Cancer. Genet. Cytogenet., 160: 76-78.
    CrossRef  |  Direct Link  |  
  40. Klein, O.D., P.D. Cotter, D.G. Albertson, D. Pinkel, W.E. Tidyman, M.W. Moore and K.A. Rauen, 2004. Prader-willi syndrome resulting from an unbalanced translocation: characterization by array comparative genomic hybridization. Clin. Genet., 65: 477-482.
    CrossRef  |  Direct Link  |  
  41. Abrams, L. and P.D. Cotter, 2004. Prenatal diagnosis of de novo x; autosome translocations. Clin. Genet., 65: 423-428.
    CrossRef  |  Direct Link  |  
  42. Tartaglia, M., P.D. Cotter, G. Zampino, B.D. Gelb and K.A. Rauen, 2003. Exclusion of ptpn11 mutations in costello syndrome: further evidence for distinct genetic etiologies for noonan, cardio-facio-cutaneous and costello syndromes. Clin. Genet., 63: 423-426.
    CrossRef  |  Direct Link  |  
  43. Sheen, V.L., J.W. Wheless, A. Bodell, E. Braverman, P.D. Cotter, K.A. Rauen and E.H. Sherr, 2003. Periventricular heterotopia associated with chromosome 5p anomalies. Neurology., 60: 1033-1036.
    CrossRef  |  Direct Link  |  
  44. Rauen, K.A., M. Golabi and P.D. Cotter, 2003. Fertility in a female with mosaic trisomy 8. Fertil. Steril., 79: 206-208.
    CrossRef  |  Direct Link  |  
  45. Rauen, K.A. and P.D. Cotter, 2003. Cardio-facio-cutaneous syndrome phenotype and del (12q). Am. J. Med. Genet. Part A., 116: 411-412.
    CrossRef  |  Direct Link  |  
  46. Murphy, S.K., A.A. Wylie, K.J. Coveler, P.D. Cotter, P.R. Papenhausen, V.R. Sutton and R.L. Jirtle, 2003. Epigenetic detection of human chromosome 14 uniparental disomy. Hum. Mutat., 22: 92-97.
    CrossRef  |  Direct Link  |  
  47. Moore, M.W., L.G. Dietz, B. Tirtorahardjo and P.D. Cotter, 2003. A multiplex methylation pcr assay for identification of uniparental disomy of chromosome 7. Hum. Mutat., 21: 645-648.
    CrossRef  |  Direct Link  |  
  48. Ki, A., K.A. Rauen, L.D. Black, D.R. Kostiner, P.L. Sandberg, D. Pinkel, and P.D. Cotter, 2003. Ring 21 chromosome and a satellited 1p in the same patient: novel origin for an ectopic nor. Am. J. Med. Genet., 120: 365-369.
    CrossRef  |  Direct Link  |  
  49. Doherty, M.J., I.A. Glass, C.L. Bennett, P.D. Cotter, N.F. Watson, A.L. Mitchell and D.F.Farrell, 2003. An xp; yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits. Epilepsia., 44: 1529-1535.
    Direct Link  |  
  50. Dietz, L.G., A.A. Wylie, K.A. Rauen, S.K. Murphy, R.L. Jirtle and P.D. Cotter, 2003. Exclusion of maternal uniparental disomy of chromosome 14 in patients referred for prader-willi syndrome using a multiplex methylation polymerase chain reaction assay. J. Med. Genet., 10.1136/jmg.40.4.e46 .
    CrossRef  |  Direct Link  |  
  51. Cotter, P.D., T.J. Musci and M.E. Norton, 2003. Rapid prenatal diagnosis in translocation carriers by interphase fish with chromosome-specific subtelomere probes. Am. J. Med. Genet., 122: 1-5.
    CrossRef  |  Direct Link  |  
  52. Bekri, S., A. May, P.D. Cotter, A.I. Al-Sabah, X. Guo, G.S. Masters and D.F. Bishop, 2003. A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia. Blood., 102: 698-704.
    CrossRef  |  Direct Link  |  
  53. Rauen, K.A., D.G. Albertson, D. Pinkel and P.D. Cotter, 2002. Additional patient with del (12)(q21. 2q22): Further evidence for a candidate region for cardio-facio-cutaneous syndrome?. Am. J. Med. Genet., 110: 51-56.
    CrossRef  |  Direct Link  |  
  54. Kostiner, D. R., H. Nguyen, V.A. Cox and P.D. Cotter, 2002. Stabilization of a terminal inversion duplication of 8p by telomere capture from 18q. Cytogenet. Genome. Res., 98: 9-12.
    CrossRef  |  Direct Link  |  
  55. Tung, G., S.M. Covert, K.L. Malabed, M.M. Wohlferd, K.P. Beckerman, J.D. Goldberg and P.D. Cotter, 2001. Minute supernumerary marker chromosomes identified in two patients with a related, larger pseudodicentric chromosome*. Am. J. Med. Genet., 103: 193-197.
    CrossRef  |  Direct Link  |  
  56. Skinner, J.L., I.J. Govberg, R.T. DePalma and P.D. Cotter, 2001. Heteromorphisms of chromosome 18 can obscure detection of fetal aneuploidy by interphase fish. Prenat. Diagn., 21: 702-703.
    CrossRef  |  Direct Link  |  
  57. Rauen, K.A., and P.D. Cotter, 2001. Candidate region for cardio-facio-cutaneous syndrome. Am. J. Med. Genet., 101: 173-173.
    CrossRef  |  Direct Link  |  
  58. Rauen, K.A., S.M. Bitts, L. Li, M. Golabi and P.D. Cotter, 2001. Tandem duplication mosaicism: characterization of a mosaic dup (5q) and review. Clin. Genet., 60: 366-370.
    CrossRef  |  Direct Link  |  
  59. McGhee, E. M., Y. Qu, M.M. Wohlferd, J.D. Goldberg, M.E. Norton, P.D.Cotter, 2001. Prenatal diagnosis and characterization of an unbalanced whole arm translocation resulting in monosomy for 18p. Clin. Genet., 59: 274-278.
    CrossRef  |  Direct Link  |  
  60. Lammer, E.J., D.R.Punglia, A.E. Fuchs, A.G. Rowe, and P.D. Cotter, 2001. inherited duplication of xq27. 2← qter: phenocopy of infantile prader-willi syndrome. Clin. Dysmorphology., 10: 141-144.
    Direct Link  |  
  61. Cotter, P.D., S. Kaffe, L. Li, I.F. Gershin, and K. Hirschhorn, 2001. Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4. Am. J. Med. Genet., 102: 76-80.
    CrossRef  |  Direct Link  |  
  62. Cotter, P.D. and T.J. Musci, 2001. Interphase FISH with chromosome-specific protelomere probes for rapid prenatal diagnosis in a reciprocal translocation carrier. Prenat. Diagn., 21: 171-175.
    CrossRef  |  PubMed  |  Direct Link  |  
  63. Chen, E., P.D. Cotter, R.A. Cohen, and R.S. Lachman, 2001. Characterization of a long-term survivor with stuve-wiedemann syndrome and mosaicism of a supernumerary marker chromosome. Am. J. Med. Genet., 101: 240-245.
    CrossRef  |  Direct Link  |  
  64. Zneimer, S.M., P.D. Cotter and S.D. Stewart, 2000. Telomere-telomere (end to end) fusion of chromosomes 7 and 22 with an interstitial deletion of chromosome 7p11.2-->p15.1: phenotypic consequences and possible mechanisms. Clin. Genet., 58: 129-133.
    CrossRef  |  PubMed  |  Direct Link  |  
  65. Rowe, A.G., L. Abrams, Y. Qu, E. Chen and P.D. Cotter, 2000. Tetrasomy 15q25-->qter: cytogenetic and molecular characterization of an analphoid supernumerary marker chromosome. Am. J. Med. Genet., 93: 393-398.
    CrossRef  |  PubMed  |  Direct Link  |  
  66. Rauen, K.A., P.D. Cotter, S.M. Bitts, V.A. Cox and M. Golabi, 2000. Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q: identification of a candidate region for cfc syndrome. Am. J. Med. Genet., 93: 219-222.
    CrossRef  |  Direct Link  |  
  67. McGhee, E.M., Cohen, N.R., J.L. Wolf C.T. Ledesma and P.D. Cotter, 2000. Monosomy 16 as the sole abnormality in myeloid malignancies. Cancer Genet Cytogenet, 118: 163-166.
    CrossRef  |  PubMed  |  Direct Link  |  
  68. Govberg, IJ., JL. Wolf and PD. Cotter, 2000. Trisomy 4 and double minutes in acute myeloid leukemia: further evidence that double minutes can occur as the primary cytogenetic abnormality. Cancer. Genet. Cytogenet., 121: 212-215.
    CrossRef  |  Direct Link  |  
  69. Glass, I.A., A. Trenholme, L. Mildenhall, R.J. Bailey and P.D. Cotter, 2000. Mild phenotype in two siblings with distal monosomy 12p13.31-->pter. Clin. Genet., 57: 401-405.
    CrossRef  |  PubMed  |  Direct Link  |  
  70. E.M. McGhee, C.J. Klump, S.M. Bitts, P.D. Cotter and E.J. Lammer, 2000. Candidate region for coffin-Siris syndrome at 7q32-->34. Am. J. Med. Genet., 93: 241-243.
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  71. Cotter, P.D., E. Ko, S.K. Larabell, A.W. Rademaker, R.H. Martin, 2000. Segregation of a supernumerary del(15) marker chromosome in sperm. Clin. Genet., 58: 488-492.
    CrossRef  |  PubMed  |  Direct Link  |  
  72. Cotter, P.D., C.T. Ledesma, L.G. Dietz, S. Pusso, M.M. Wohlferd and J.D. Goldberg, 1999. Prenatal diagnosis of supernumerary marker 15 chromosomes and exclusion of uniparental disomy for chromosome 15. Prenat. Diagn., 19: 721-726.
    CrossRef  |  PubMed  |  Direct Link  |  
  73. Cotter, P.D., A.May, L. Li, A.I. Al-Sabah, E.J. Fitzsimons, M. Cazzola and D.F. Bishop, 1999. Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis. Blood, 93: 1757-1769.
    PubMed  |  Direct Link  |  
  74. Glass, I.A., P. Stormer, P.T. Oei, E. Hacking and P.D. Cotter, 1998. Trisomy 2q11.2-->q21.1 resulting from an unbalanced insertion in two generations. J. Med.. Genet., 35: 319-322.
    PubMed  |  Direct Link  |  
  75. Cotter, PD., K. Hirschhorn and H. Kurt, 1998. Chimerism detected by an unbalanced chromosome translocation: an alternative hypothesis. Clin. Genet., 53: 230-230.
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  76. Cotter, P.D., A. Babu, J.P. Willner and R.J. Desnick, 1998. Prenatal diagnosis and outcome of mosaicism for a de novo unbalanced translocation identified in amniocytes. Prenat Diagn., 18: 857-861.
    CrossRef  |  PubMed  |  Direct Link  |  
  77. Wright, T.J., D.O. Ricke, K. Denison, S. Abmayr and P.D. Cotter et al.,, 1997. A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. Hum. Mol. Genet., 6: 317-324.
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  78. Manea, S.R., I.F. Gershin, A. Babu, J.P. Willner, R.J. Desnick and P.D. Cotter, 1997. Mosaicism for a small supernumerary ring X chromosome in a dysmorphic, growth-retarded male: mos47,XXY/48,XXY, +r(X). Clin. Genet., 52: 432-435.
    CrossRef  |  PubMed  |  Direct Link  |  
  79. Levy, B., I.F. Gershin, R.J. Desnick, A. Babu, B.D. Gelb, K. Hirschhorn and P.D. Cotter, 1997. Characterization of a de novo unbalanced chromosome rearrangement by comparative genomic hybridization and fluorescence in situ hybridization. Cytogenet. Cell Genet., 1997: 68-71.
    PubMed  |  Direct Link  |  
  80. Kang, J.S., M. Gao, J.L. Feinleib, P.D. Cotter, S.N. Guadagno and R.S. Krauss, 1997. CDO: an oncogene-, serum-, and anchorage-regulated member of the Ig/fibronectin type III repeat family. J. Cell Biol., 138: 203-213.
    PubMed  |  Direct Link  |  
  81. Iglesias, A., L.D. McCurdy, I.A. Glass, P.D. Cotter, M. Illueca, A. Perenyi and C. Sansaricq, 1997. Mosaic trisomy 14 with hepatic involvement. Ann. Genet., 40: 104-108.
    PubMed  |  Direct Link  |  
  82. Gelb, B.D., J. Zhanga, P.D. Cotter, I.F. Gershin and R.J. Desnick, 1997. Physical mapping of the human connexin 40 (GJA5), Flavin-containing monooxygenase 5, and natriuretic peptidereceptor A genes on 1q21. Genomics., 39: 409-411.
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  83. Davies, J.P., P.D. Cotter and Y.A. Ioannou, 1997. Cloning and mapping of human Rab7 and Rab9 cDNA sequences and identification of a Rab9 pseudogene. Genomics., 41: 131-134.
    CrossRef  |  PubMed  |  Direct Link  |  
  84. Cotter, PD., S. Kaffe, LD. McCurdy, M. Jhaveri, JP. Willner and K. Hirschhorn, 1997. Paternal uniparental disomy for chromosome 14: A case report and review. Am. J. Med. Genet., 70: 74-79.
    CrossRef  |  Direct Link  |  
  85. Cotter, P.D., L.D. McCurdy, I.F. Gershin, A. Babu, J.P. Willner and R.J. Desnick, 1997. Prenatal detection and molecular characterization of a de novo duplication of the distal long arm of chromosome 19. Am. J. Med. Genet., 71: 325-328.
    CrossRef  |  PubMed  |  Direct Link  |  
  86. Cotter, P.D., A. Babu, L.D. McCurdy, M. Caggana, J.P. Willner and R.J. Desnick, 1997. Homozygosity for pericentric inversions of chromosome 9. Prenatal diagnosis of two cases. Ann. Genet., 40: 222-226.
    PubMed  |  Direct Link  |  
  87. Ashton-Prolla, P., I.F. Gershin, A. Babu, R.L. Neu and R.E. Zinberg et al., 1997. Prenatal diagnosis of a familial interchromosomal insertion of Y chromosome heterochromatin. Am. J. Med. Genet., 73: 470-473.
    CrossRef  |  PubMed  |  Direct Link  |  
  88. Abad, M.M., P.D. Cotter, F.H. Fodor, S. Larson, F.F. Ginsberg, R.J. Desnick and J.E. Abdenur, 1997. Screening for the mitochondrial DNA A3243G mutation in children with insulin-dependent diabetes mellitus. Metab., 46: 445-449.
    PubMed  |  Direct Link  |  
  89. Cotter, P.D., M. Caggan, J.P. Willner, A. Babu and R.J. Desnick, 1996. Prenatal diagnosis of a fetus with two balanced de novo chromosome rearrangements. Am. J. Med. Genet., 66: 197-199.
    PubMed  |  Direct Link  |  
  90. Cotter, P.D., H.A. Drabkin, T. Varkony, D.I. Smith and D.F. Bishop, 1995. Assignment of the human housekeeping delta-aminolevulinate synthase gene (ALAS1) to chromosome band 3p21.1 by PCR analysis of somatic cell hybrids. Cytogenet. Cell Genet., 69: 207-208.
    PubMed  |  Direct Link  |  
  91. Cotter, P.D., A. May, E.J. Fitzsimons, T. Houston and B.E. Woodcock, 1995. Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts. J. Clin. Invest., 96: 2090-2096.
    PubMed  |  Direct Link  |  
  92. Bottomley, S.S., B.K. May, T.C. Cox, P.D. Cotter and D.F. Bishop, 1995. Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia. J. Bioenerg. Biomembr., 27: 161-168.
    PubMed  |  Direct Link  |  
  93. Jardine, P.E., P.D. Cotter, S.A. Johnson, F.J. Fitzsimons, L. Tyfield, P.W. Lunt and D.F. Bishop, 1994. Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis. J. Med.. Genet., 31: 213-218.
    PubMed  |  Direct Link  |  
  94. Cotter, P.D., D.L. Rucknagel and D.F. Bishop, 1994. X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley. Blood, 84: 3915-3924.
    PubMed  |  Direct Link  |  
  95. Cotter, P.D., P. Tumewu and P.J. Browett, 1993. Deletion of the long arm of chromosome 20 in a patient with small cell lymphocytic lymphoma. Cancer Genet., 70: 142-143.
    CrossRef  |  Direct Link  |  
  96. Cotter, P.D., M. Baumann and D.F. Bishop, 1992. Enzymatic defect in “X-linked” sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency. Proc. Natl. Acad. Sci. U.S.A., 89: 4028-4032.
    PubMed  |  Direct Link  |  
  97. Cotter, PD., 1991. Chromosome preparations from direct and overnight cultures of colonic adenomatous polyps. N.Z. J. Med. Lab. Sci., 45: 16-17.
    Direct Link  |  
  98. Cotter, P.D. and N.L. Stewart, 1990. Partial trisomy 17q and monosomy 9p due to a familial translocation. Ann. Genet., 33: 231-233.
    PubMed  |  Direct Link  |  

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