Open Access Biomedical Publisher Using Post Publication Peer Review
Associate Professor ResearchDx
United States of America
Philip D. Cotter, PhD, FACMG, FFSc(RCPA)
Dr Cotter received his doctorate in Biomedical Sciences from the Department of Human Genetics at the Mount Sinai School of Medicine in New York. He is Board Certified by the American Board of Medical Genetics in both Clinical Cytogenetics and Clinical Molecular Genetics, is a Fellow of the American College of Medical Genetics, Fellow of the Faculty of Science Royal College of Pathologists of Australasia and Associate Clinical Professor of Pediatrics at the University of California San Francisco.
Dr Cotter is a Principal of ResearchDx LLC a Contract Diagnostics Organization, Contract Manufacturing, Clinical Laboratory and Consulting Company specializing in Companion Diagnostics. He is also Laboratory Director of Pacific Diagnostics Clinical Laboratory, Irvine, CA.
Dr Cotter’s experience includes Vice President and Laboratory Director at Biocept Inc. in San Diego, Laboratory Director at the Illumina Clinical Services Laboratory in San Diego, Laboratory Director at Combimatrix Molecular Diagnostics in Irvine, Director of Molecular Cytogenetics at the Mount Sinai School of Medicine in New York, Director of Cytogenetics and Molecular Genetics at the Children’s Hospital and Research Center in Oakland CA, and Director of Advanced Molecular Diagnostics at US Labs in Irvine, CA. Dr Cotter has published extensively in the areas of cytogenetics, molecular genetics and prenatal diagnosis.
Associate Clinical Professor, Department of Pediatrics, College of Medicine, University of California San Francisco, San Francisco, CA.
EDUCATION:1. 1990 – 1994: Doctor of Philosophy - Biomedical Sciences Graduate Program in Human Genetics. Mount Sinai School of Medicine of the City University of New York, New York, NY.2. 1990 – 1992: Master of Philosophy - Biomedical Sciences Graduate Program in Human Genetics. Mount Sinai School of Medicine of the City University of New York, New York, NY.3. 1987 – 1990: Diploma of Management. New Zealand Institute of Management, Wellington, New Zealand.4. 1988 – 1989: Diploma of Medical Laboratory Technology - Clinical Cytogenetics. New Zealand Board of Medical Laboratory Technology, Wellington, New Zealand.5. 1984 – 1986: Master of Applied Science (Honours) - Plant Breeding and Cytogenetics. Lincoln University, Lincoln, New Zealand.6. 1980 – 1983 Bachelor of Science - Botany and Microbiology. University of Canterbury, Christchurch, New Zealand.PROFESSIONAL EXPERIENCE:1. 2010 – Chief Scientific Officer and Vice President of Operations, CymoGen Dx LLC, Irvine, CA.2. 2009 – Laboratory Director, Pacific Diagnostics Clinical Laboratory, Irvine, CA.3. 2008 – Principal and Co-Founder, ResearchDx LLC, Irvine, CA.4. 2007 – Associate Clinical Professor, Department of Pediatrics, College of Medicine, University of California San Francisco, San Francisco, CA.5. 2004 – Vice President of Clinical Laboratories and Laboratory Director, Biocept Laboratories, San Diego, CA.6. 2003 – 2006 Adjunct Associate Professor, Department of Pediatrics, College of Medicine, University of California San Francisco, San Francisco, CA.7. 2003 – 2004 Director of Advanced Molecular Diagnostics and Chief of the FISH and Molecular Genetics Laboratories, US Labs Inc., Irvine, CA.8. 2002 – 2004 Associate Medical Director - Cytogenetics and Molecular Genetics, US Labs Inc., Irvine, CA.9. 1997 – 2003 Adjunct Assistant Professor, Department of Pediatrics, College of Medicine, University of California San Francisco, San Francisco, CA.10. 1996 – 2002 Director, Cytogenetics Laboratory and Director, Molecular Genetics Laboratory, Division of Medical Genetics, Children’s Hospital Oakland, Oakland, CA.11. 1995 – 1996 Assistant Director, Cytogenetics Laboratory, Department of Human Genetics, Mount Sinai School of Medicine, New York, NY.12. 1994 – 1996 Director, Molecular Cytogenetics, Department of Human Genetics, Mount Sinai School of Medicine, New York, NY.13. 1994 – 1996 Postdoctoral Fellow, American Board of Medical Genetics Training Program, Department of Human Genetics, Mount Sinai School of Medicine, New York, NY.1987 – 1990 Clinical Cytogeneticist, Cytogenetics Department, Princess Mary Children’s Hospital, Auckland, New ZealandHONORS AND AWARDS:1. 1992 – 1994: March of Dimes Birth Defects Foundation Predoctoral Graduate Research Training Fellowship.2. 1992: American Society of Human Genetics Predoctoral Clinical Research Award.3. 1990: Auckland Area Health Board School of Medical Laboratory Technology, Cytogenetics Specialist Level Award4. 1989: Auckland Area Health Board School of Medical Laboratory Technology, Cytogenetics Certificate Level Award
Companion diagnostics assay development, molecular oncology, cytogenetics, molecular diagnostics
PUBLICATIONS:1. Cotter PD, Stewart NL: Partial trisomy 17q and monosomy 9p due to a familial translocation. Ann. Génét. 33: 231-233, 1990.2. Cotter PD: Chromosome preparations from direct and overnight cultures of colonic adenomatous polyps. N.Z. J. Med. Lab. Sci. 45: 16-17, 1991.3. Cotter PD, Willard HF, Gorski JL, Bishop DF: Assignment of human erythroid d-aminolevulinate synthase (ALAS2) to a distal subregion of band Xp11.21 by PCR analysis of somatic cell hybrids containing X;autosome translocations. Genomics 13: 211-212, 1992.4. Cotter PD, Baumann M, Bishop DF: Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid d-aminolevulinate synthase deficiency. Proc. Natl. Acad. Sci. USA 89: 4028-4032, 1992.5. Cotter PD, Tumewu P, Browett PJ: Deletion of the long arm of chromosome 20 in a patient with small cell lymphocytic lymphoma. Cancer Genet. Cytogenet. 70: 142-143, 1993.6. Jardine PE, Cotter PD, Johnson SA, Fitzsimons EJ, Tyfield L, Lunt PW, Bishop DF: 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, 1994.7. Cotter PD, Rucknagel DL, Bishop DF: X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific d-aminolevulinate synthase (ALAS2) gene in the original family described by Cooley.Blood 84: 3915-3924, 1994.8. Cotter PD, Drabkin HA, Varkony T, Smith DI, Bishop DF: Assignment of the human housekeeping d- aminolevulinate synthase gene (ALAS1) to chromosome band 3p21.1 by PCR analysis of somatic cell hybrids. Cytogenet. Cell Genet. 69: 207-208, 1995.9. Bottomley SS, May BK, Cox TC, Cotter PD, Bishop DF: Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia. J. Bioenerg. Biomembr. 27: 161-168, 1995.10. Cotter PD, May A, Fitzsimons EJ, Houston T, Woodcock B, Al-Sabah AI, Wong L, Bishop DF: Late onset X-linked sideroblastic anemia: missense mutations in the erythroid d-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringedsideroblasts. J. Clin. Invest. 96: 2090-2096, 1995.11. Cotter PD, Caggana M, Willner JP, Babu A, Desnick RJ: Prenatal diagnosis of a fetus with two balanced de novo chromosome rearrangements. Am. J. Med. Genet. 66: 197-199, 1996.12. Levy B, Gershin IF, Desnick RJ, Babu A, Gelb BD, Hirschhorn K, Cotter PD: Characterization of a de novo unbalanced chromosome rearrangement by comparative genomic hybridization and fluorescence in situ hybridization. Cytogenet. Cell Genet. 76: 68-71, 1997.13. Wright TJ, Ricke DO, Denison K, Abmayr S, Cotter PD, Hirschhorn K, Keinänen M, McDonald-McGinn D, Somer M, Spinner N, Yang-Feng T, Zackai E, Altherr MR: A transcript map of the newly defined 165 kb Wolf Hirschhorn syndrome critical region. Hum. Mol. Genet. 6: 317-324, 1997.14. Gelb BD, Zhang J, Cotter PD, Gershin IF, Desnick RJ: Physical mapping of the human connexin 40 (GJA5), flavin-containing monooxygenase 5, and natriuretic peptide receptor A genes on 1q21. Genomics 39: 409-411, 1997.15. Iglesias A, McCurdy LD, Glass IA, Cotter PD, Illueca M, Perenyi A, Sansaricq C: Mosaic trisomy 14 with hepatic involvement. Ann. Génét. 40: 104-108, 1997.16. Davies JP, Cotter PD, Ioannou YA: Cloning and mapping of human Rab7 and Rab9 cDNA sequences and identification of a Rab9 pseudogene. Genomics 41: 131-134, 1997.17. Abad MM, Cotter PD, Fodor FH, Larsen S, Ginsberg-Fellner F, Desnick RJ, Abdenur JE: Screening for the mitochondrial DNA A3243G mutation in children with insulin-dependent diabetes mellitus. Metabolism 46: 445-449, 1997.18. Cotter PD, Kaffe S, McCurdy LD, Jhaveri M, Willner JP, Hirschhorn K: Paternal heterodisomy for chromosome 14: a case report and review. Am. J. Med. Genet. 70: 74-79, 1997.19. Kang JS, Gao M, Feinleib JL, Cotter PD, Guadagno SN, Krauss RS: CDO: an oncogene-, serum- and anchorage-regulated member of the Ig/fibronectin type III repeat family. J. Cell Biol. 138: 203-213, 1997.20. Cotter PD, McCurdy LD, Gershin IF, Babu A, Willner JP, Desnick RJ: 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, 1997.21. Cotter PD, Babu A, McCurdy LD, Caggana M, Willner JP, Desnick RJ: Homozygosity for pericentric inversions of chromosome 9: prenatal diagnosis of two cases. Ann. Génét. 40: 222-226, 1997.22. Ashton-Prolla P, Gershin IF, Babu A, Neu RL, Zinberg RE, Willner JP, Desnick RJ, Cotter PD: Prenatal diagnosis of a familial interchromosomal insertion of Y chromosome heterochromatin. Am. J. Med. Genet. 73: 470-473, 1997.23. Manea SR, Gershin IF, Babu A, Willner JP, Desnick RJ, Cotter PD: 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, 1997.24. Cotter PD, Hirschhorn K: Chimerism detected by an unbalanced chromosome translocation: an alternative hypothesis. Clin. Genet. 53: 230, 1998.25. Glass IA, Stormer P, Oei PTSP, Hacking E, Cotter PD: Trisomy 2q11.2®q21.1 resulting from an unbalanced insertion in two generations. J. Med. Genet. 35: 319-322, 1998.26. Cotter PD, Babu A, Willner JP, Desnick RJ: Prenatal diagnosis and outcome of mosaicism for a de novo unbalanced translocation detected in amniocytes. Prenat. Diagn. 18: 857-861, 199827. Cotter PD, May A, Li L, Al-Sabah AI, Fitzsimons EJ, Cazzola M, Bishop DF: 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, 1999.28. Bigler SA, Bigler LR, Kaelbling M, Cotter PD: Characterization of two distinct kidney tumors in a patient with end-stage renal disease. J. Urol. Pathol. 11: 133-142, 1999.29. Cotter PD, Ledesma CT, Dietz LG, Pusso S, Wohlferd MM, Goldberg JD: Prenatal diagnosis of supernumerary marker 15 chromosomes and exclusion of uniparental disomy for chromosome 15. Prenat. Diagn. 19: 721-726, 1999.30. McGhee EM, Cohen NR, Wolf JL, Ledesma CT, Cotter PD: Monosomy 16 as the sole abnormality in myeloid malignancies. Cancer Genet. Cytogenet. 118: 163-166, 2000.31. Glass IA, Trenholme A, Mildenhall L, Bailey RJ, Cotter PD: Mild phenotype in two siblings with distal monosomy 12p13.31®pter. Clin. Genet. 57: 401-405, 2000.32. Rauen KA, Cotter PD, Bitts SM, Cox VA, Golabi M: Cardio-facio-cutaneous syndrome in an individual with an interstitial deletion of 12q: identification of a candidate region for CFC syndrome. Am. J. Med. Genet. 93: 219-222, 2000.33. McGhee EM, Klump CJ, Bitts SM, Cotter PD, Lammer EJ: Candidate region for Coffin-Siris syndrome at 7q32®34. Am. J. Med. Genet. 93: 241-243, 2000.34. Zneimer SM, Cotter PD, Stewart SD: 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, 2000.35. Rowe AG, Abrams L, Qu Y, Chen E, Cotter PD: Tetrasomy 15q25®qter: cytogenetic and molecular characterization of an analphoid supernumerary marker chromosome. Am. J. Med. Genet. 93: 393-398, 2000.36. Govberg IJ, Wolf JL, Cotter PD: Acute myeloid leukemia with trisomy 4 and double minutes: further evidence that double minutes can occur as the primary cytogenetic abnormality. Cancer Genet. Cytogenet.121: 212-215, 2000.37. Cotter PD, Ko E, Larabell SK, Rademaker AW, Martin RH: Segregation of a supernumerary del(15) marker chromosome in sperm. Clin. Genet. 58: 488-492, 2000.38. Cotter PD, Musci TJ: Interphase FISH with chromosome-specific protelomere probes for rapid prenatal diagnosis in a reciprocal translocation carrier. Prenat. Diagn. 21: 171-175, 2001.39. McGhee EM, Qu Y, Wohlferd MM, Goldberg JD, Norton ME, Cotter PD: Prenatal diagnosis and characterization of a whole arm translocation resulting in monosomy for 18p. Clin. Genet. 59: 274-278, 2001.40. Lammer EJ, Punglia DR, Fuchs AE, Rowe AG, Cotter PD: Inherited duplication of Xq27.2®qter: phenocopy of infantile Prader-Willi syndrome. Clin. Dysmorphol. 10: 141-144, 2001.41. Rauen KA, Cotter PD: Candidate region for cardio-facio-cutaneous syndrome. Am. J. Med. Genet. 101: 173, 2001.42. Chen E, Cotter PD, Cohen RA, Lachman RS: Characterization of a long-term survivor with Stüve- Wiedemann syndrome and mosaicism of a supernumerary marker chromosome. Am. J. Med. Genet. 101: 240-245, 2001.43. Cotter PD, Kaffe S, Li L, Gershin IF, Hirschhorn K: Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4. Am. J. Med. Genet. 102: 76-80, 2001.44. Skinner JL, Govberg IJ, DePalma RT, Cotter PD: Heteromorphisms of chromosome 18 can obscure detection of fetal aneuploidy by interphase FISH. Prenat. Diagn. 21: 702-704, 2001.45. Tung G, Covert SM, Malabed KL, Wohlferd MM, Beckerman KP, Goldberg JD, Cotter PD: Minute supernumerary marker chromosomes identified in two patients with a larger, related pseudodicentric chromosome. Am. J. Med. Genet. 103: 193-197, 2001.46. Rauen KA, Bitts SM, Li L, Golabi M, Cotter PD: Tandem duplication mosaicism: characterization of a mosaic dup(5q) and review. Clin. Genet. 60: 367-371, 2001.47. Rauen KA, Albertson DG, Pinkel D, Cotter PD: 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, 2002.48. Kostiner DR, Nguyen H, Cox VA, Cotter PD: Stabilization of a terminal inversion duplication of 8p by telomere capture of 18q. Cytogenet. Genome Res. 98: 9-12, 2002.49. Rauen KA, Golabi M, Cotter PD: Fertility in a female with mosaic trisomy 8. Fertil. Steril. 79: 206-208, 2003.50. Rauen KA, Cotter PD:Cardio-facio-cutaneous syndrome phenotype and del(12q). Am. J. Med. Genet. 116A: 411-412, 2003.
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