International Journal of Genetic Engineering

International Journal of Genetic Engineering is devoted to the rapid publication of fundamental research papers on all phases of genetic engineering. All contributions shall be rigorously refereed and selected on the basis of quality and originality of the work as well as the breadth of interest to readers.

Philip Cotter

Editorial Board Member of International Journal of Genetic Engineering

Associate Professor, University of California San Francisco, USA

Research Areas

Genetics, molecular oncology


1990-1994Ph.DBiomedical Sciences Graduate Program in Human Genetics. Mount Sinai School of Medicine of the City University of New York, New York, NY
1990-1992MasterBiomedical Sciences Graduate Program in Human Genetics. Mount Sinai School of Medicine of the City University of New York, New York, NY
1987-1990DiplomaManagement. New Zealand Institute of Management, Wellington, New Zealand
1988-1989DiplomaMedical Laboratory Technology-Clinical Cytogenetics. New Zealand Board of Medical Laboratory Technology, Wellington, New Zealand
1984-1986MasterApplied Science (Honours)-Plant Breeding and Cytogenetics. Lincoln University, Lincoln, New Zealand
1980-1983B.ScBotany and Microbiology. University of Canterbury, Christchurch, New Zealand


2010Chief Scientific Officer and Vice President of Operations, CymoGen Dx LLC, Irvine, CA
2009Laboratory Director, Pacific Diagnostics Clinical Laboratory, Irvine, CA
2008Principal and Co-Founder, ResearchDx LLC, Irvine, CA
2007Associate Clinical Professor, Department of Pediatrics, College of Medicine, University of California San Francisco, San Francisco, CA
2004Vice President of Clinical Laboratories and Laboratory Director, Biocept Laboratories, San Diego, CA
2003-2006Adjunct Associate Professor, Department of Pediatrics, College of Medicine, University of California San Francisco, San Francisco, CA
2003-2004Director of Advanced Molecular Diagnostics and Chief of the FISH and Molecular Genetics Laboratories, US Labs Inc., Irvine, CA
2002-2004Associate Medical Director-Cytogenetics and Molecular Genetics, US Labs Inc., Irvine, CA
1997-2003Adjunct Assistant Professor, Department of Pediatrics, College of Medicine, University of California San Francisco, San Francisco, CA
1996-2002Director, Cytogenetics Laboratory and Director, Molecular Genetics Laboratory, Division of Medical Genetics, Children's Hospital Oakland, Oakland, CA
1995-1996Assistant Director, Cytogenetics Laboratory, Department of Human Genetics, Mount Sinai School of Medicine, New York, NY
1994-1996Director, Molecular Cytogenetics, Department of Human Genetics, Mount Sinai School of Medicine, New York, NY
1994-1996Postdoctoral Fellow, American Board of Medical Genetics Training Program, Department of Human Genetics, Mount Sinai School of Medicine, New York, NY
1987-1990Clinical Cytogeneticist, Cytogenetics Department, Princess Mary Children's Hospital, Auckland, New Zealand

Academic Achievement

1992-1994 March of Dimes Birth Defects Foundation Predoctoral Graduate Research Training Fellowship
1992 American Society of Human Genetics Predoctoral Clinical Research Award
1990 Auckland Area Health Board School of Medical Laboratory Technology, Cytogenetics Specialist Level Award
1989 Auckland Area Health Board School of Medical Laboratory Technology, Cytogenetics Certificate Level Award

Publications: Conferences/Workshops/Symposiums/Journals/Books

[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 δ-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 δ-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 δ-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 δ-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 δ-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts. 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, 1998.
[27]  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.
[51]  Sheen VL, Wheless JW, Bodell A, Braverman E, Cotter PD, Rauen KA, Glenn O, Weisiger K, Packman S, Walsh CA, Sherr EH: Periventricular heteropia associated with chromosome 5p anomalies. Neurology 60: 1033-1036, 2003.
[52]  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.
[53]  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.
[54]  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.
[55]  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.
[56]  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.
[57]  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.
[58]  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.
[59]  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.
[60]  Abrams L, Cotter PD. Prenatal diagnosis of de novo X;autosome translocations. Clin. Genet. 65: 423-428, 2004.
[61]  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.
[62]  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.
[63]  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.
[64]  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.
[65]  Park JW, Zarnegar R, Kanauchi H, Wong MG, Hyun WC, Ginzinger DG, Lobo M, Cotter PD, Duh QY, Clark OH: Troglitzone, the peroxisome proliferator-activated receptor-γ agonist, induces antiproliferation and redifferentiation in human thyroid cancer cell lines. Thyroid 15: 222-231, 2005.
[66]  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.
[67]  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.
[68]  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.
[69]  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.
[70]  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.
[71]  Cotter PD, Norton ME: Y chromosome heterochromatin size variation at prenatal diagnosis. Prenat. Diagn. 25: 1062-1063, 2005.
[72]  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.
[73]  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.
[74]  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.
[75]  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.
[76]  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.
[77]  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.
[78]  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.
[79]  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.
[80]  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.
[81]  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.
[82]  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.
[83]  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.
[84]  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.
[85]  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.
[86]  Jelin A, Perry H, Hogue J, Oberoi S, Cotter PD, Klein OD: Clefting in trisomy 9p patients: genotype-phenotype correlation using microarray comparative genomic hybridization. J. Craniofacial Surg. 21: 1376-1379, 2010.
[87]  Golabi M, James A, Good W, Cotter PD: Tissue-limited mosaicism for monosomy of chromosome 13. Am. J. Med. Genet. 152A: 2634-2639, 2010.
[88]  Association for Molecular Pathology Whole Genome Analysis Working Group: The Association for Molecular Pathology's approach to supporting a global agenda to embrace personalized genomic medicine. J. Mol. Diagn. 13: 249-251, 2011.
[89]  Dawson AJ, Bal S, McTavish B, Tomiuk M, Schroedter I, Ahsanuddin AN, Seftel MD, Vallente R, Mai S, Cotter PD, Hovannes K, Gorre M, Gunn SR: Inversion and deletion of 16q22 defined by array CGH, FISH and RT-PCR in a patient with AML. Cancer Genet. 204: 344-347, 2011.
[90]  Glass IA, Cotter PD, Gospe SM: Other chromosomal disorders. In Maria BL (Ed). Current Management in Child Neurology, 2008. 4th Edition, BC Decker Inc: Shelton, CT.