Dr. Philip D. Cotter
University of California, USA


1996  Ph.D., Mount Sinai School of Medicine, BioMedical Sciences

Publications (Selected)

  1. Golabi M, James A, Good W, Cotter PD: Tissue-limited mosaicism for monosomy of chromosome 13. Am. J. Med. Genet. 152A: 2634-2639, 2010.
  2. Paskulin GA, Riegal M, Cotter PD, Kiss A, Rosa RFM, Zen PRG, Mombach R, Graziadio C: Inv dup del(4)(:p13®p16.3::p16.3®qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome. Am. J. Med. Genet. 149A: 1302-1307, 2009.
  3. Golabi M, James AW, Desai N, Culver K, Cotter PD: Gardner-Silengo-Wachtel or genito-palato-cardiac syndrome with associated autosomal aneuploidy. Am. J. Med. Genet. 149A: 693-697, 2009.
  4. Ramsaroop R, Oei P, Ng D, Kumar N, Cotter PD: Cervical intraepithelial neoplasia and aneusomy of TERC: assessment of liquid based cytological preparations. Diagn. Cytopathol. 37: 411-415, 2009.
  5. Gunn SR, Mohammed MS, Gorre ME, Cotter PD, Kim J, Bahler DW, Preobrazhensky SN, Higgins RA, Bolla AR, Ismail SH, de Jong D, Eldering E, van Oers MHJ, Mellink CHM, Keating MJ, Schlette EJ, Abruzzo LV, Robetorye RS: Whole-genome scanning by array CGH as a clinical tool for risk assessment in chronic lymphocytic leukemia. J. Mol. Diagn. 10: 442-451, 2008.
  6. Marco EJ, Abidi FE, Bristow J, Dean WB, Cotter PD, Jeremy RJ, Schwartz CE, Sherr EH: ARHGEF9 mutation in a female patient associated with X-linked mental retardation and hyperarousal. J. Med. Genet. 45: 100-105, 2008.
  7. Paskulin GA, Gazzola Zen PR, Rosa RFM, Manique RC, Cotter PD: Report of a child with a complete de novo 17p duplication localized to the terminal portion of the long arm of chromosome 17. Am. J. Med. Genet. 143A: 1366-1370, 2007.
  8. Tokuyasu TA, Cotter PD, Segraves R, Harris J, Elder ME, Gonzales M, Pinkel D, Albertson DG, Rauen KA: Detection of single clone deletions using array CGH: identification of submicroscopic deletions in 22q11.2 deletion syndrome as a model system. Am. J. Med. Genet. 143A:925-932, 2007.
  9. Klein OD, Cotter PD, Moore MW, Zanko A, Gilats M, Epstein CJ, Conte F, Rauen KA: Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH. Clin. Genet. 71: 260-266, 2007.
  10. Glass IA, Li L, Cotter PD: Double aneuploidy (48,XXY,+21): molecular analysis demonstrates a maternal origin. Eur. J. Med. Genet. 49: 346-348, 2006.
  11. McGhee EM, Cotter PD, Weir JF, Berline JW, Turner MA, Gormley M, Palefsky JM: Molecular cytogenetic characterization of human papillomavirus 16-transformed foreskin keratinocyte cell line 16-MT. Cancer Genet. Cytogenet. 168: 36-43, 2006.
  12. Glass IA, Rauen KA, Chen E, Parkes J, Albertson DG, Pinkel D, Cotter PD: Characterization of ring chromosome 15 by array CGH. Hum.Genet. 118: 611-617, 2006.
  13. Iglesias A, Rauen KA, Albertson DG, Pinkel D, Cotter PD: Duplication of distal 20q: clinical, cytogenetic and array CGH characterization of a new case. Clin. Dysmorphol. 15: 19-23, 2006.
  14. Estep AL, Tidyman WE, Teitell MA, Cotter PD, Rauen KA: H-RAS 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. 140A: 8-16, 2006.
  15. Cotter PD, Nguyen H, Tung G, Rauen KA: 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, 2005.
  16. Cotter PD, Norton ME: Y chromosome heterochromatin size variation at prenatal diagnosis. Prenat. Diagn. 25: 1062-1063, 2005.
  17. Sherr EH, Owen R, Albertson DG, Pinkel D, Cotter PD, Slavotinek A, Hetts S, Jeremy R, Schilmoeller G, Schilmoeller K, Wakahiro M, Barkovich J: Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies. Neurology 65: 1496-1498, 2005.
  18. Klein OD, Cotter PD, Schmidt AM, Bick DP, Tidyman WE, Albertson DG, Pinkel D, Rauen KA: Interstitial deletion of chromosome 12q: genotype-phenotype correlation of two patients utilizing array comparative genomic hybridization. Am. J. Med. Genet. 138A: 349-354, 2005.
  19. Betz JL, Behairy AS, Rabionet P, Tirtorahardjo B, Moore MW, Cotter PD: Acquired inv(9): what is its significance? Cancer Genet. Cytogenet. 160: 76-78, 2005.
  20. Mukhopadhyay S, Readling J, Cotter PD, Shrimpton AE, Sidhu JS: Transformation of follicular lymphoma to Burkitt-like lymphoma within a single lymph node. Hum. Pathol. 36: 571-575, 2005.
  21. Cheng SF, Rauen KA, Pinkel D, Albertson DG, Cotter PD: Xq chromosome duplication in males: clinical, cytogenetic and array CGH characterization of a new case and review. Am. J. Med. Genet. 135A: 308-313, 2005.
  22. Cotter PD, Drexler K, Corley AL, Covert SM, Moland JS, Govberg IJ, Norton ME: Prenatal diagnosis of minute supernumerary marker chromosomes. Gynecol. Obstet. Invest. 60: 27-38, 2005.
  23. Klein OD, Backstrand K, Cotter PD, Marco E, Sherr E, Slavotinek A: Y;6 translocation with deletion of 6p. Clin. Dysmorphol. 14: 93-96, 2005.
  24. Tsai AC, DiGiovanni M, Walton C, Cotter PD: De novo duplication of the short arm of chromosome 12: dup(12)(p13.1p13.3). Am. J. Med. Genet. 134A: 229-230, 2005.
  25. Klein OD, Cotter PD, Albertson DG, Pinkel D, Tidyman WE, Moore MW, Rauen KA: Prader-Willi syndrome resulting from an unbalanced translocation: characterization by array comparative genomic hybridization. Clin. Genet. 65: 477-482, 2004.
  26. Abrams L, Cotter PD. Prenatal diagnosis of de novo X;autosome translocations. Clin. Genet. 65: 423-428, 2004.
  27. Doherty MJ, Glass IA, Bennett CL, Cotter PD, Watson NF, Mitchell AL, Bird TD, Farrell DF: An Xp;Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits. Epilepsia 44: 1529-1535, 2003.
  28. Cotter PD, Musci TM, Norton ME: Rapid prenatal diagnosis in translocation carriers by interphase FISH with chromosome-specific subtelomere probes. Am. J. Med. Genet. 122A: 1-5, 2003.
  29. Ki A, Rauen KA, Black LD, Kostiner DR, Sandberg PL, Pinkel D, Albertson DG, Norton ME, Cotter PD: Ring 21 chromosome and a satellited 1p in the same patient: novel origin for an ectopic NOR. Am. J. Med. Genet. 120A: 365-369, 2003.
  30. Murphy SK, Wylie AA, Coveler KJ, Cotter PD, Papenhausen PR, Sutton VR, Shaffer LG, Jirtle RL: Epigenetic detection of human chromosome 14 uniparental disomy. Hum. Mutat. 22: 92-97, 2003.
  31. Bekri S, May A, Cotter PD, Al-Sabah AI, Guo XJ, Masters GS, Bishop DF: A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia. Blood 102: 698-704, 2003.
  32. Moore MW, Dietz LG, Tirtorahardjo B, Cotter PD: A multiplex methylation PCR assay for identification of uniparental disomy of chromosome 7. Hum. Mutat. 21: 645-648, 2003.
  33. Tartaglia M, Cotter PD, Zampino G, Gelb BD, Rauen KA: 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, 2003.
  34. Dietz LG, Wylie AA, Rauen KA, Murphy SK, Jirtle RL, Cotter PD: 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. 40: e46, 2003.
  35. Rauen KA, Cotter PD: Cardio-facio-cutaneous syndrome phenotype and del(12q). Am. J. Med. Genet. 116A: 411-412, 2003.
  36. Rauen KA, Golabi M, Cotter PD: Fertility in a female with mosaic trisomy 8. Fertil. Steril. 79: 206-208, 2003.
  37. 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.
  38. 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.
  39. 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.

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Last Updated: August, 2012.

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