Department of Pathology
Brigham and Women's Hospital
A teaching Affliate of Harvard Medical School
 

Name and Present Position:

CYNTHIA C. MORTON, Director, Cytogenetics Division

Lab web sites:

http://www.brighamandwomens.org/bwh_hearing/
http://www.fibroids.net/
http://dgap.harvard.edu/
http://www.brighamandwomens.org/cytogenetics/

Address:

Brigham and Women's Hospital, Department of Pathology, 75 Francis Street, Boston, MA
 

Graduate Medical Education (including dates and institution of internships, residencies, fellowships, etc.):

1982 PhD Medical College of Virginia, Richmond, VA
1982-1983 Research Fellow in Pediatrics (Div. Clin Genetics), Children's Hospital, Boston, MA
1983-1987 Research Fellow in Genetics, Harvard Medical School, Boston, MA

Certification:

1984 American Board of Medical Genetics: Clinical Cytogenetics, Ph.D. Medical Genetics
1993 American Board of Medical Genetics: Molecular Genetics

Current Academic Appointments:

William Lambert Richardson Professor of Obstetrics, Gynecology and Reproductive Biology, Harvard Medical School
Professor of Pathology, Harvard Medical School

Current Medical Staff Appointment:

Director of Cytogenetics Division, Brigham and Women's Hospital

Selected Bibliography:

  • Bhattacharya SK, Rockwood EJ, Smith S, Bonilha V, Crabb JS, Peachey N, Kuchtey R, Robertson NG, Morton CC, Crabb JW: Proteomics reveals cochlin deposits in glaucomatous trabecular meshwork. J. Biol. Chem. 2005; 280:6080-6084.
  • *Ligon AH, *Moore SDP, Parisi MA, Mealiffe ME, Harris DJ, Ferguson HL, Quade BJ, Morton CC: Constitutional rearrangement of the architectural factor HMGA2: A novel human phenotype including overgrowth and lipomas. Am. J. Hum. Genet. 2005; 76:340-348. (*co-first authors)
  • Kim H-G, Herrick SR, Lemyre E, Kishikawa S, Salisz JA, Seminara S, MacDonald ME, Bruns GAP, Morton CC, Quade BJ, Gusella JF: Hypogonadotropic hypogonadism and cleft lip and palate due to a balanced translocation producing haploinsufficiency for FGFR1. J. Med. Genet. 2005; 42:666-672.
  • Makishima T, Rodriguez CI, Robertson NG, Morton CC, Stewart CL, Griffith AJ: Targeted disruption of mouse Coch provides functional evidence that DFNA9 hearing loss is not a COCH haploinsufficiency disorder. Hum. Genet. 2005; 118:29-34.
  • Street VA, Kallman, JC, Robertson NG, Kuo SF, Morton CC, Phillips JO: A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction. Am. J. Med. Genet. 2005; 139:86-95.
  • Morton CC, Nance WE: Newborn hearing screening: A silent revolution. N. Engl. J. Med. 2006; 354:2151-2164.
  • Moore SDP, Offor O, Ferry JA, Amrein PC, Morton CC, Dal Cin P: ELF4 is fused to ERG in a case of acute myeloid leukemia with a t(X;21)(q25-26;q22). Leuk. Res. 2006; 30:1037-1042.
  • *Christacos NC, *Quade BJ, +Dal Cin P, +Morton CC: Uterine leiomyomata with deletions of 1p represent a distinct cytogenetic subgroup associated with unusual histologic features. Genes Chromosomes Cancer 2006; 45:304-312. (*co-first authors, +co-last authors)
  • Kemperman MH, De Leenheer EMR, Huygen PLM, van Duijnhoven G, Morton CC, Robertson NG, Cremers FPM, Kremer H, Cremers CWRJ: Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation. Otol. Neurotol. 2005; 26:926-933.
  • Stewart EA, Morton CC: The genetics of uterine leiomyomas: What clinicians need to know. Obstet. Gynecol. 2006; 107:917-921.
  • Robertson NG, Cremers CWRJ, Huygen PLM, Ikezono T, Krastins B, Kremer H, Kuo SF, Liberman MC, Merchant SN, Miller CE, Nadol, Jr. JB, Sarracino DA, Verhagen WI, Morton CC: Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction. Hum. Mol. Genet. 2006; 15:1071-1085.
  • Wilkins-Haug L, Quade B, Morton CC: Confined placental mosaicism as a risk factor among newborns with fetal growth restriction. Prenat. Diagn. 2006; 26:428-432.
  • Weremowicz S, Sandstrom DJ, Morton CC, Miron PM: Validation of DNA probes for preimplantation genetic diagnosis (PGD) by fluorescence in situ hybridization (FISH). Prenat. Diagn. 2006; 26:1042-1050.
  • Sivakumaran TA, Resendes BL, Robertson NG, Giersch ABS, Morton CC: Characterization of an abundant COL9A1 transcript in the cochlea with a novel 3’ UTR: expression studies and detection of miRNA target sequence. J. Assoc. Res. Otolaryngol. 2006; 7:160-172.
  • Baek M-J, Park H-M, Johnson JM, Altuntas CZ, Jaini R, Thomas DM, Ball EJ, Robertson NG, Morton CC, Hughes GB, Tuohy VK: Increased frequencies of cochlin specific T cells in patients with autoimmune sensorineural hearing loss. J. Immunol. 2006; 177:4203-4210.
  • Alkuraya FS, Saadi I, Lund JJ, Turbe-Doan A, Morton CC, Maas RL: SUMO1 haploinsufficiency leads to cleft lip and palate. Science 2006; 313:1751.
  • Kim H-G, Higgins AW, Herrick SR, Kishikawa S, Nicholson L, Kutsche K, Ligon AH, Harris DJ, MacDonald ME, Bruns GAP, Morton CC, Quade BJ, Gusella JF: Candidate loci for Zimmermann-Laband syndrome at 3p14.3. Am. J. Med. Genet. A 2007; 143:107-111.
  • Lu W, van Eerde AM, Fan X, Quintero-Rivera F, Kulkarni S, Ferguson H, Hyung-Goo Kim H-G, Fan Y, Xi Q, Li Q, Sanlaville D, Andrews W, Sundaresan V, Bi W, Yan J, Giltay JC, Wijmenga C, de Jong TPVM, Feather SA, Woolf AS, Rao Y, Lupski JR, Eccles MR, Quade BJ, Gusella JF, Morton CC, Maas RL: Disruption of ROBO2 is associated with congenital anomalies of the kidney and urinary tract and confers risk of vesicoureteral reflux. Am. J. Hum. Genet. 2007; 80:616-632.
  • Leach NT, Sun Y, Michaud S, Zheng Y, Ligon KL, Ligon AH, Sander T, Korf BR, Lu W, Harris DJ, Gusella JF, Maas RL, Quade BJ, Cole AJ, Kelz MB, Morton CC: Disruption of diacylglycerol kinase delta in association with seizures and vascular abnormalities. Am. J. Hum. Genet. 2007; 80:792-799.
  • Williamson RE, Darrow KN, Michaud S, Jacobs JS, Jones MC, Eberl DF, Maas RL, Liberman MC, Morton CC: Methylthioadenosine phosphorylase (MTAP) in hearing: Gene disruption by chromosomal rearrangement in a hearing impaired individual and model organism analysis. Am. J. Med. Genet., in press.
  • Hodge JC, Morton CC: Genetic heterogeneity among uterine leiomyomata: Insights into malignant progression. Hum. Mol. Genet. 2007; 16:R7-R13..
  • Quintero-Rivera F, Leach NT, de la Chapelle A, Gusella JF, Morton CC, Harris DJ: Is disruption of an N-myristoyltransferase (NMT2) associated with hypoplastic testes? Am. J. Med. Genet., in press.
  • Lu W, Quintero-Rivera F, Fan Y, Alkuraya F, Donovan D, Xi Q, Campbell CG, Peters R, Rilliet B, Parvex P, Gronostajski RM, Ligon AH, Quade BJ, Morton CC, Gusella JF, Maas RL: NFIA haploinsufficiency causes CNS, ureteral and renal defects. PLoS Genet. 2007; 3:830-834.
  • Huyck KL, Panhuysen CIM, T.Cuenco K, Zhang J, Goldhammer H, Jones ES, Somasundaram P, Lynch AM, Harlow BL, Lee H, Stewart EA, Morton CC: The impact of race as a risk factor for symptom severity and age at diagnosis of uterine leiomyomata among affected sisters. Amer. J. Obstet. Gynecol., in press.
  • Gabashvili IS, Sokolowski B, Morton CC, Giersch ABS: Ion channel gene expression in the inner ear. J. Assoc. Res. Otolaryngol., in press.
  • Chanock S, Manolio T, Boehnke M, Boerwinkle E, Hunter D, Thomas G, Abecasis G, Altshuler D, Bailey-Wilson JE, Brooks LD, Cardon LR, Daly M, Donnelly P, Fraumeni , Jr. JF, Freimer NB, Gerhard DS, Gunter C, Guttmacher AE, Guyer MS, Harris EL, Hirschhorn J, Hoh J, Hoover R, Kong CA, Merikangas KR, Morton CC, Palmer LJ, Phimister EG, Rice JP, Roberts J, Rotimi C, Tucker MA, Vogan K, Wacholder S, Wijsman EM, Winn DM, Collins FS: What constitutes replication of a genotype-phenotype sssociation? Summary of an NCI-NHGRI Working Group. Nature, in press.