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, 2 graduate students
Visit my lab page here.

Several long-term research projects in human genetics are ongoing in the Morton 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 genome-wide association study (GWAS) 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. Lastly, another primary interest in the laboratory is to identify genes involved in hearing and deafness disorders ( using mouse models of human deafness disorders, genome sequencing of newborns at BWH who fail newborn hearing screening tests and GWAS of subjects with age-related hearing impairment.

Last Update: 8/10/2015


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.

Hodge JC, T.Cuenco K, Huyck KL, Somasundaram P, Panhuysen CIM, Stewart EA, Morton CC: Uterine leiomyomata and decreased height: A common
HMGA2 predisposition allele. Hum. Genet., 2009, 125:257-263.

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.

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: Whole genome sequencing in a prenatal case with multiple anomalies and a balanced translocation. N. Engl. J. Med. 2012; 367:2226-2232. (*co-first authors)

Ordulu Z, Wong KE, Currall BB, Ivanov AR, Pereira S, Althari S, Gusella JF, Talkowski ME, Morton CC: Describing sequencing results of structural chromosome rearrangements with a suggested next-gen cytogenetic nomenclature. Am. J. Hum. Genet. 2014; 94:695-709.

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