New Research Building, Room 160D
Harvard Medical School
Boston, MA 02115

B.S. in Biology, the College of William and Mary in Virginia , Williamsburg, VA

Ph.D. in Human Genetics, Medical College of Virginia , Richmond, VA Laboratory of Judith A. Brown, Ph.D

Research Fellow in Genetics, Department of Genetics

William Lambert Richardson Professor of Obstetrics, Gynecology and

Professor of Pathology

Member of the Affiliated Faculty of the Harvard-MIT Division of Health Sciences and Technology

Associate Director, Harvard-Partners Center for Genetics and Genomics

Co-Director, Brigham and Women's Hospital Biomedical Research Institute

Mary Horrigan Conners Award, Brigham and Women's Hospital

MacArthur Research Service Award, Brigham and Women's Hospital Research Council

American Journals of Human Genetics

Human Genetics

Editor, American Journal of Human Genetics

International Journal of Clinical and Experimental Pathology

1. Robertson N, Morton C, Van Camp G, Fransen E, Van de Heyning P , inventors; The Brigham & Women's Hospital and University of Antwerp assignees. Methods of diagnosis and treatment of meniere disease.US patent 6,730,475.2006 May 4.

2. Morton CC, Robertson N, inventors; The Brigham & Women's Hospital assignee.Compositions to detect lesions associated with hearing loss in the cochlear gene, COCH5B2 . US patent 7,030,235. 2006 Apr 18

Biology of uterine leiomyomata
Biology of hearing and deafness
Gene mapping
Clinical and molecular cytogenetics

RESEARCH FUNDING INFORMATION

Past:

1987-91 NIH/R01 PI Characterization of the myc Multigene Family

Current:
1990-07 NIH/R01 PI Cloning Genes Involved in Hearing
1992-06 NIH/R01 PI Molecular and Cytogenetic Studies of Uterine Leiomyomata
2001-07 NIH/P01 PI DGAP: Developmental Genome Anatomy Project
2003-08 NIH/R01 PI Finding Genes for Fibroids
1999-2008 NIH/T32 PI: Training Grant in Genetics

PRINCIPAL CLINICAL AND HOSPITAL SERVICE RESPONSIBILITIES:

1987- Director of Cytogenetics, Brigham and Women's Hospital
1996- Director of Cytogenetics, Partners HealthCare System

MAJOR ADMINISTRATIVE RESPONSIBILITIES:

Director of Cytogenetics, Brigham and Women's Hospital
1999- Program Director, Women's Reproductive Health Research Career Development Center, Brigham and Women's Hospital
2002-04 Program Director, Harvard Medical School American Board of Medical Genetics Training Program
2003- Prinicipal Investigator, Genetics Training Grant at Harvard Medical School

2003

“Cloning Genes Involved in Hearing”
Human Medical Genetics Program, University of Colorado Health Sciences Center, Denver, February 20, 2003 “Many Tumors and Many Genes: Genetics of Uterine Leiomyomata”
Department of Human Genetics, University of California at Los Angeles, Los Angeles, CA, August 29, 2003 “Many Tumors and Many Genes: Genetics of Uterine Leiomyomata”
Pathology Presents Seminar, Department of Pathology, University of Washington School of Medicine, Seattle, WA, October 8, 2003
“Many Tumors and Many Genes: Genetics of Uterine Leiomyomata”
Department of Human Genetics, University of Michigan, Ann Arbor, MI, October 2, 2003
“Many Tumors and Many Genes: Genetics of Uterine Leiomyomata”
Grand Rounds, Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Boston, MA, November 12, 2003

"The Developmental Genome Anatomy Project (DGAP): A Cytogenetic Approach to Gene Discovery in the Genome Era" Molecular and Cellular Biology Symposium, "Forward Genetics in the Post-Genome Era", University of Arizona, Tucson, AZ, April 9-10, 2004
“Cytogenetic Methods”
　　Laboratory Medicine Lecture Series, Beth Israel Deaconess Hospital, Boston, MA, May 3, 2004 “Chromosomal Disorders”
　　Laboratory Medicine Lecture Series, Beth Israel Deaconess Hospital, Boston, MA, May 10, 2004“Cytogenetic Approaches to Gene Discovery in the Genome Era”
Armenise-Harvard Foundation 8 th Annual Symposium, "Cancer Genomics", Siena, Italy, May 21-24, 2004 “Cytogenetic Approaches to Gene Discovery in the Genome Era”
　　10 th Anniversary of the Chronic Care Center Medical Meeting, Beirut, Lebanon, June 17-19, 2004 “Genetic Liabilities for Uterine Leiomyomata”
Reproductive Endocrinology and Infertility Seminar Series, Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, MA, November 16, 2004

“Genetic Links”
Advances in Uterine Leiomyoma: 2 nd NIH International Congress, National Institutes of Health, Bethesda, Maryland, February 24-25, 2005
“Genetics and Hearing Disorders: A Paradigm for Complex Genetic Disease and Newborn Screening” Peking Union Medical College, Beijing, China, March 28, 2005
“Cytogenetic Approaches to Gene Discovery in the Genome Era: The Developmental Genome Anatomy Project” Peking Union Medical College, Beijing, China, March 28, 2005
“Cytogenetic Approaches to Gene Discovery in the Genome Era: The Developmental Genome Anatomy Project” Department of Human Genetics, Mount Sinai Medical School, New York, NY, May 6, 2005
“Cytogenetic Approaches to Gene Discovery in the Genome Era
” Department of Pathology, Harvard Medical School, Summer Graduate Programs Retreat, North Falmouth, MA, June 20-21, 2005
“Cytogenetic Approaches to Gene Discovery in the Genome Era” DECIPHER Symposium, The Sanger Center, Hinxton Cambridge, UK, June 23-25, 2005
“Cloning Genes Involved in Hearing” Department of Otolaryngology, The Cleveland Clinic, Cleveland, OH, October 19, 2005
“From Gene Discovery in the Auditory System to Genetic testing in Newborns: Progress at the Speed of Sound”
Northeast Ohio Otolaryngology Society, Case Western Reserve University affiliated Hospitals and The Cleveland Clinic, Cleveland, OH, October 19, 2005
“From Gene Discovery in the Auditory System to Genetic testing in Newborns: Progress at the Speed of Sound”
Genetic and Translational Research on Sensorineural Hearing Loss: A Special Symposium, Albert Einstein College of Medicine and Jacobi Medical Center, New York, NY, November 14, 2005

“ Genetic Analysis of the Most Common Tumor on the Planet: The Story of Uterine Fibroids ” Grand Rounds, Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Boston, MA, February 1, 2006
“ Genetic Analysis of the Most Common Tumor on the Planet: The Story of Uterine Fibroids ”
Department of Cellular and Structural Biology Seminar Series, The University of Texas Health Science Center at San Antonio, TX, February 28, 2006
“The Brigham and Women's Hospital Family History Project
” Honors Convocation, MGH Institute of Health Professions, Charlestown, MA, May 12, 2006
“ What is the final answer? Experience with genome-wide aCGH testing at the Brigham and Women's and Massachusetts General Hospitals”
The DECIPHER Symposium, The Sanger Center, Hinxton, England, June 18-20, 2006
“From Gene Discovery in the Auditory System to Genetic Testing in Newborns: A Silent Revolution”Pediatric Grand Rounds, New York University, New York City, NY, July 25, 2006
“ Genetic Analysis of the Most Common Tumor on the Planet: The Story of Uterine Fibroids ” Schering AG, Berlin, Germany, August 30, 2006
“Cytogenetic Approaches to Gene Discovery in the Genome Era: The Developmental Genome Anatomy Project” NeoGenomics, Ft. Myers, FL, September 8, 2006
“From Gene Discovery in the Auditory System to Genetic Testing in Newborns: A Silent Revolution” Symposium on Hearing Development and Hearing Loss, Salt Lake City, UT, September 15, 2006

“From Gene Discovery in the Auditory System to Genetic Testing in Newborns: A Silent Revolution”University of Nebraska, Omaha, NE, April 17, 2007
“ Genetic Analysis of the Most Common Tumor on the Planet: The Story of Uterine Fibroids ”
Grand Rounds, Department of Obstetrics and Gynecology, Boston Medical Center, Boston, MA, April 25, 2007
“The Developmental Genome Anatomy Project: Structural Analyses of Breakpoints and Genomes
”The DECIPHER Symposium, The Sanger Center, Hinxton, England, May 16-18, 2007 “ Finding Genes for Fibroids ”
Reproductive Endocrinology and Infertility Seminar Series, Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, MA, May 22, 2007
“Lessons from the Analysis of Apparently Balanced Chromosomal Rearrangements: the Developmental Genome Anatomy Project (DGAP) Experience”
Agilent Microarray CGH Symposium, Harvard Medical School, Boston, MA, May 29, 2007 “Human Genetics of Hearing and Deafness”
Biology of the Inner Ear, Marine Biological Laboratory, Woods Hole, MA, August 27, 2007

Dal Cin P, Quade BJ, Neskey DM, Kleinman MS, Weremowicz S, Morton CC: Intravenous leiomyomatosis is characterized by a der(14)t(12;14)(q15;q24). Genes Chromosomes Cancer 2003; 36:205-206.

Quade BJ, Weremowicz S, Neskey DM, Vanni R, Ladd C, Dal Cin P, Morton CC: Fusion transcripts involving HMGA2 are not a common molecular mechanism in uterine leiomyomata with rearrangements in 12q15. Cancer Res. 2003; 63:1351-1358.

Iannaccone A, Breuer DK, Wang X, Kuo SF, Normando EM, Filipova E, Baldi A, Hiriyanna S, MacDonald CB, Baldi F, Cosgrove D, Morton CC, Swaroop A, Jablonski MM: Clinical and immunohistochemical evidence for an X-linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation. J. Med. Genet. 2003; 40:e118.

Mason HR, Nowak RA, Morton CC, Castellot, Jr. JJ. Heparin inhibits the motility and proliferation of human myometrial and leiomyoma smooth muscle cells. Am. J. Pathol. 2003; 162:1895-1904.

Gross KL, Neskey DM, Manchanda N, Weremowicz S, Kleinman MS, Nowak RA, Ligon AH, Rogalla P, Drechsler K, Bullerdiek J, Morton CC. HMGA2 expression in uterine leiomyomata and myometrium: Quantitative analysis and tissue culture studies. Genes Chromosomes Cancer 2003; 38:68-79.

Robertson NG, Hamaker SA, Patriub V, Aster JC, Morton CC: Subcellular localization, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9. J. Med. Genet. 2003: 40:479-486.

Scherer SW, Cheung J, MacDonald JR, Osbourne LR, Nakabayashi K, Herbrick J-A, Carson AR, Parker-Katiraee, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HHQ, Pelicci PG, Lococo F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GAP, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim H-G, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJT, Grzeschik K-H, Teebi A, Minassian BA, Kere J, Armengol L, Pugana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, D?hner H, D?hner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui L-C: Human chromosome 7: DNA sequence and biology. Science 2003, 300:767-772.

Porter D, Weremowicz S, Chin K, Seth P, Keshaviah A, Lahti-Domenici J, Bae YK, Monitto CL, Merlos-Suarez A, Chan J, Hulette CM, Richardson A, Morton CC, Marks J, Duyao M, Hruban R, Gabrielson E, Gelman R, Polyak K: A neural survival factor is a candidate oncogene in breast cancer. Proc. Natl. Acad. Sci. USA 2003; 100:10931-10936.

Dettori T, Frau DV, Garcia JL, Pierantoni G, Lee C, Hernandez JM, Fusco A, Morton CC, Vanni R: Comprehensive conventional and molecular cytogenetic characterization of B-CPAP, a human papillary thyroid carcinoma-derived cell line. Cancer Genet. Cytogenet. 2004; 151:171-177.

Resendes BL, Kuo SF, Robertson NG, Giersch ABS, Honrubia D, Ohara O, Adams JC, Morton CC: Isolation from cochlea of a novel human intronless gene with predominant fetal expression. J. Assoc. Res. Otolaryngol. 2004; 5:185-202.

Cowan CA, Klimanskaya I, McMahon, Atienza J, Witmyer J, Zucker JP, Wang S, Morton CC, McMahon AP, Powers D, Melton DA: Derivation of embryonic stem cell lines from human blastocysts. N. Engl. J. Med. 2004; 350:1353-1356.

Quade BJ, Tao-Yeuan Wang T-Y, Sornberger K, Dal Cin P, Mutter GL, Morton CC: Molecular pathogenesis of uterine smooth muscle tumors from transcriptional profiling. Genes Chromosomes Cancer 2004; 40:97-108.

Roberts AE, Irons MB, Kimonis VE, Mulliken JB, Morton CC, Lee C, Listewnik M: Description of a case of distal 2p trisomy by array-based comparative genomic hybridization: a high resolution genome-wide investigation for chromosomal aneuploidy in a single assay. Am. J. Med. Genet. 2004; 130:204-207.

Iannaccone A, Wang X, Jablonski MM, Kuo SF, Baldi A, Cosgrove D, Morton CC, Swaroop A: Increasing evidence for syndromic phenotypes associated with RPGR mutations. Am. J. Ophthalmol. 2004; 137:785-786.

Gross KL, Panhuysen CIM, Kleinman MS, Goldhammer H, Jones ES, Nassery N, Stewart EA, Morton CC: Involvement of fumarate hydratase in nonsyndromic uterine leiomyomata: Genetic linkage analysis and FISH studies. Genes Chromosomes Cancer 2004; 41:183-190.

  Veugelers M, Bressan M, McDermott DA, Weremowicz S, Morton CC, Mabry CC, Lefaivre J-F, Zunamon A, Destree A, Chaudron J-M, Basson CT: Mutation of perinatal myosin heavy chain associated with a Carney complex variant. N. Engl. J. Med. 2004, 351:460-469.

Moore SDP, Herrick SR, Ince TA, Kleinman MS, Dal Cin P, Morton CC, Quade BJ: Uterine leiomyomata with t(10;17) disrupt the histone acetyltransferase MORF . Cancer Res. 2004; 64:5570-5577.

Hida K, Hida Y, Amin DN, Flint AF, Panigrahy D, Morton CC, Klagsbrun M: Tumor-associated endothelial cells with cytogenetic abnormalities. Cancer Res. 2004; 64:8249-8255.

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.

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.

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. A 2007; 143A:1630-1639.

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. A 2007; 143:1796-1798.

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; 3:830-843.

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. 2007; 8:305-328.

•  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 2007; 447:655-660.

Picciani R, Desai K, Guduric-Fuchs J, Cogliati T, Morton CC, Bhattacharya SK: Cochlin in the eye: functional implications. Prog. Retin. Eye Res. 2007; 26:453-469.