BBS Faculty Member - Cynthia Morton

Cynthia Morton

Department of Obstetrics, Gynecology and Reproductive Biology
Department of Pathology

Brigham and Women's Hospital
New Research Building, Rm. 160D
77 Avenue Louis Pasteur
Boston, MA 02115
Tel: 617-525-4535
Fax: 617-525-4533
Lab Members: 2 postdoctoral fellows, 1 graduate student
Visit my lab page here.

Several long-term research projects in human genetics are ongoing in my laboratory. An overall theme is to apply evolving techniques in molecular cytogenetics to address problems in human cytogenetics; our interests include
chromosomal rearrangements in constitutional and acquired cytogenetic disorders. A major endeavor is underway to identify genes that predispose women to develop uterine leiomyomata, common benign pelvic tumors that are the most frequent indication for hysterectomy in the United States ( Another effort is to identify genes involved in human development, known as DGAP (Developmental Genome Anatomy Project, (, and uses naturally occurring human chromosomal rearrangements in association with major congenital anomalies as the biological reagents for gene discovery. A project to decipher genes involved in a variety of human tumors, known as TGAP (Tumor Genome Anatomy Project), is under development, and employs novel chromosomal rearrangements identified in patients evaluated in the clinical cytogenetics laboratory to discover new diagnostic and prognostic markers and to illuminate pathways in tumor biology. Lastly, another primary interest in the laboratory is to identify genes involved in hearing and deafness disorders ( using expressed sequences from a human fetal cochlear library, a cochlear cDNA microarray, and mouse models of human deafness disorders.

Last Update: 6/2/2014


For a complete listing of publications click here.



Robertson NG, Jones SM, Sivakumaran TA, Giersch ABS, Jurado SA, Call LM, Miller CE, Maison SF, Liberman MC, Morton CC: A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction. Hum. Mol. Genet. 2008; 17:3426-3434.

Poitras J, Dal Cin P, Aster JC, DeAngelo DJ, Morton CC: Novel SSBP2-JAK2 fusion gene resulting from a t(5;9)(q14.1; p24.1) in pre-B acute lymphocytic leukemia. Genes Chromosomes Cancer 2008;47:884-889.

Talkowski ME*, Ordulu Z*, Pillalamarri V, Benson CB, Blumenthal I, Connolly S, Hanscom C, Hussain N, Pereira S, Picker J, Rosenfeld JA, Shaffer LG, Wilkins-Haug LE, Gusella JF, Morton CC: Clinical diagnosis by whole-genome sequencing of a prenatal sample. N. Engl. J. Med. 2012; 367:2226-2232. (*co-first authors)

Eggert SL, Huyck KL, Somasundaram P, Kavalla R, Stewart EA, Lu AT, Painter JN, Montgomery GW, Medland SE, Nyholt DR, Treloar SA, Zondervan KT, Heath AC, Madden PAF, Rose L, Buring JE, Ridker PM, Chasman DI, Martin NG, Cantor RM, Morton CC: Genome-wide linkage and association analyses implicate FASN in predisposition to uterine leiomyomata. Am. J. Hum. Genet. 2012; 91:621-628.

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