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Laboratory of Elizabeth Berry-Kravis, MD, PhD

Our laboratory has a broad interest in an array of molecular techniques including experience with FMR1 DNA testing and methylation studies for both clinical diagnosis and prior research projects. Specifically, molecular-phenotype relationships in fragile X-associated disorders including relationships of phenotypes in fragile X syndrome and FXTAS to FMRP; FMR1 and ASFMR mRNA, methylation and activation ratios, and FMR1 repeat length and AGG location, as well as various other biomarkers of cellular function with FMR1 expansions.

Selected publications

Berry-Kravis E, Potanos K, Weinberg D, Zhou L, Goetz CG. Penetrance of fragile X-associated tremor/ataxia syndrome (FXTAS) in two sisters related to X-inactivation pattern. Ann Neurol 2005;57:144-147.

Garcia-Arocena D, Yang JE, Brouwer JR, Tassone F, Iwahashi C, Berry-Kravis E, Goetz CG, Sumis AM, Zhou L, Nguyen DV, Campos L, Howell E, Ludwig A, Greco C, Willemsen R, Hagerman RJ, Hagerman PJ. Fibroblast phenotype in male carriers of FMR1 premutation alleles. Hum Mol Genet 2010;19:299-312. PMCID: PMC2796892

Rand CM, Yu M, Jennings LJ, Panesar K, Berry-Kravis EM, Zhou L, Weese-Mayer DE. Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS). Am J Med Genet 2012 epub Jul 20.

Kalman L, Tarleton J, Hilbert J, Moxley III R, Hegde M, Hjelm N, Berry-Kravis E, Luebbe E, Zhou L, Toji L. Quality assurance for myotonic dystrophy type 1 (DM1) genetic testing: development of a genomic DNA reference material panel. J Mol Diagn 2013;15:518-525.

Yrigollen CM, Martorell L, Durbin-Johnson B, Naudo M, Genoves J, Murgia A, Polli R, Zhou L, Barbouth D, Rupchock A, Finucane B, Latham GJ, Hadd A, Berry-Kravis E, Tassone F. AGG Interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission. J Neurodev Disord. 2014;6(1):24. doi: 10.1186/1866-1955-6-24. Epub 2014 Jul 30.

Todd ES, Weinberg SM, Berry-Kravis EM, Silvestri JM, Kenny AS, Rand CM, Zhou L, Maher BS, Marazita ML, Weese-Mayer DE. Facial phenotype in children with PHOX2B–determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology. Pediatr Res 2006;59:39-45.

Rand CM, Weese-Mayer DE, Zhou L, Maher BS, Cooper ME, Marazita ML, Berry-Kravis EM. Sudden infant death syndrome: case-control frequency differences in paired like homeobox (PHOX) 2B gene. Am J Med Genet 2006;140:1687-1691.

McBride J, Ramaswamy S, Gasmi M, Bartus RT, Herzog C, Zhou L, Berry-Kravis E, Kordower JH. Viral delivery of GDNF improves behavioral function and protects striatal neurons in a transgenic model of Huntington’s disease. Proc Natl Acad Sci USA 2006;103:9345-9350.

Berry-Kravis E, Rand CM, Zhou L, Weese-Mayer DE. Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. Am J Respir Crit Care Med 2006;174:1139-1144.

Rand CM, Berry-Kravis EM, Zhou L, Leurgans SE, Weese-Mayer DE. Sudden infant death syndrome: rare mutation in the serotonin system FEV gene. Pediatr Res 2007;62:180-182.

Repetto GM, Corales RJ, Abara SG, Zhou L, Berry-Kravis EM, Rand CM, Weese-Mayer DE. Later-onset central hypoventilation syndrome due to a heterozygous 24 polyalanine repeat expansion mutation in the PHOX2B gene. Acta Pediatr 2009;98:192-195.

Ramaswamy S, McBride JL, Han I, Berry-Kravis EM, Zhou L, Herzog CD, Gasmi M, Bartus RT, Kordower JH. Intrastriatal CERE-120 (AAV-Neurturin) protects striatal and cortical neurons and delays motor deficits in a transgenic mouse model of Huntington’s disease. Neurobiol Dis 2009;34:40-50.

Jennings LJ, Yu M, Zhou L, Rand CM, Berry-Kravis EM, Weese-Mayer DE. Comparison of PHOX2B testing methods in the diagnosis of diagnosis of congenital central hypoventilation syndrome and mosaic carriers. Diagn Mol Pathol 2010;19:224-231.

Hall DA, Robertson-Dick EE, O'Keefe JA, Hadd AG, Zhou L, Berry-Kravis E.X-inactivation in the clinical phenotype of fragile X premutation carrier sisters. Neurol Genet. 2016 Feb 3;2(1):e45. doi: 10.1212/NXG.0000000000000045. eCollection 2016 Feb.

Our team



  • Kevin Sharp
  • Johnathan Jackson


For information about current research opportunities, contact Elizabeth Berry-Kravis, MD, PhD, at (312) 563-6636. Our main laboratory is located at Rush University Medical Center in the Jelke Building, Room 1565, 1750 W. Harrison St., Chicago, IL 60612.