Julie Fleischer, MD
Associate Professor of Clinical Pediatrics - Genetics and Metabolism
Pediatrics
About me
Dr. Julie Fleischer is an associate professor in clinical pediatrics at SIU School of Medicine specializing in genetics. She received her medical degree from Hahnemann University in Philadelphia, PA and completed a pediatric residency at Cardinal Glennon Children’s Hospital in St. Louis, MO. She practiced general pediatrics for 12 years before seeking additional training in genetics to provide more in depth care for children with genetic diseases. She completed her clinical genetics fellowship at St. Louis Children’s Hospital, Washington University School of Medicine in St. Louis, MO. Dr Fleischer is board certified in pediatrics, and has special interest in developmental delays, autism, connective tissue disorders, metabolic disorders and complex genetic disorders.
Gender
Female
Additional languages spoken
English
Education & training
Positions
Pediatrician
Board Certifications
Pediatrics
Medical School
Hahnemann University School of Medicine, Philadelphia, PA
Undergraduate Degree
Oral Roberts University, Tulsa, OK
Residency
St. Louis University, St. Louis, MO - Pediatrics
Fellowship
Washington University School of Medicine, St. Louis, MO - Genetics
File
Featured Publications
[1]
Efthymiou S.
Leo CP.
Deng C.
Lin SJ.
Maroofian R.
Lin R.
Karagoz I.
Zhang K.
Kaiyrzhanov R.
Scardamaglia A.
Owrang D.
Turchetti V.
Jahnke F.
Huang K.
Petree C.
Derrick AV.
Rees MI.
Alvi JR.
Sultan T.
Li C.
Jacquemont ML.
Tran-Mau-Them F.
Valenzuela-Palafoll M.
Sidlow R.
Yoon G.
Morrow MM.
Carere DA.
O'Connor M.
Fleischer J.
Gerkes EH.
Phornphutkul C.
Isidor B.
Rivier-Ringenbach C.
Philippe C.
Kurul SH.
Soydemir D.
Kara B.
Sunnetci-Akkoyunlu D.
Bothe V.
Platzer K.
Wieczorek D.
Koch-Hogrebe M.
Rahner N.
Thuresson AC.
Matsson H.
Frykholm C.
Bozdoğan ST.
Bisgin A.
Chatron N.
Lesca G.
Cabet S.
Tümer Z.
Hjortshøj TD.
Rønde G.
Marquardt T.
Reunert J.
Afzal E.
Zamani M.
Azizimalamiri R.
Galehdari H.
Nourbakhsh P.
Chamanrou N.
Chung SK.
Suri M.
Benke PJ.
Zaki MS.
Gleeson JG.
Calame DG.
Pehlivan D.
Yilmaz HI.
Gezdirici A.
Rad A.
Abumansour IS.
Oprea G.
Bereketoğlu MB.
Banneau G.
Julia S.
Zeighami J.
Ashoori S.
Shariati G.
Sedaghat A.
Sabri A.
Hamid M.
Parvas S.
Tajudin TA.
Abdullah U.
Baig SM.
Chung WK.
Glazunova OO.
Sabine S.
Cheema HA.
Zifarelli G.
Bauer P.
Sidpra J.
Mankad K.
Vona B.
Fry AE.
Varshney GK.
Houlden H.
Fu D.
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.
2025 May;112(5):1117-1138.
PMID: 40245862
PMID: 40245862
[2]
Lim MS.
Guo DC.
Velasco Torrez W.
Lai A.
Schweber J.
Garg N.
Fleischer J.
Boileau C.
De Backer J.
Evangelista A.
Jondeau G.
Le Goff C.
Milleron O.
Muiño-Mosquera L.
Morris S.
Ouzounian M.
Cervi E.
Marcadier J.
Caffarelli A.
Shalhub S.
Pyeritz R.
Yetman A.
Milewicz D.
Braverman AC.
Aortic and arterial manifestations and clinical features in -related heritable thoracic aortic disease: results from the Montalcino Aortic Consortium.
2025 Jan;62(2):82-88.
PMID: 39653386
PMID: 39653386
[3]
Rots D.
Bouman A.
Yamada A.
Levy M.
Dingemans AJM.
de Vries BBA.
Ruiterkamp-Versteeg M.
de Leeuw N.
Ockeloen CW.
Pfundt R.
de Boer E.
Kummeling J.
van Bon B.
van Bokhoven H.
Kasri NN.
Venselaar H.
Alders M.
Kerkhof J.
McConkey H.
Kuechler A.
Elffers B.
van Beeck Calkoen R.
Hofman S.
Smith A.
Valenzuela MI.
Srivastava S.
Frazier Z.
Maystadt I.
Piscopo C.
Merla G.
Balasubramanian M.
Santen GWE.
Metcalfe K.
Park SM.
Pasquier L.
Banka S.
Donnai D.
Weisberg D.
Strobl-Wildemann G.
Wagemans A.
Vreeburg M.
Baralle D.
Foulds N.
Scurr I.
Brunetti-Pierri N.
van Hagen JM.
Bijlsma EK.
Hakonen AH.
Courage C.
Genevieve D.
Pinson L.
Forzano F.
Deshpande C.
Kluskens ML.
Welling L.
Plomp AS.
Vanhoutte EK.
Kalsner L.
Hol JA.
Putoux A.
Lazier J.
Vasudevan P.
Ames E.
O'Shea J.
Lederer D.
Fleischer J.
O'Connor M.
Pauly M.
Vasileiou G.
Reis A.
Kiraly-Borri C.
Bouman A.
Barnett C.
Nezarati M.
Borch L.
Beunders G.
Özcan K.
Miot S.
Volker-Touw CML.
van Gassen KLI.
Cappuccio G.
Janssens K.
Mor N.
Shomer I.
Dominissini D.
Tedder ML.
Muir AM.
Sadikovic B.
Brunner HG.
Vissers LELM.
Shinkai Y.
Kleefstra T.
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
2024 Aug;111(8):1605-1625.
PMID: 39013458
PMID: 39013458
Publications
- Chilton, I., V. Okur, G. Vitiello, A. Selicorni, M. Mariani, A. Goldenberg, T. Husson, D. Campion, K. D. Lichtenbelt, K. van Gassen, M. Steinraths, J. Rice, E. R. Roeder, R. O. Littlejohn, M. Srour, G. Sebire, A. Accogli, D. Héron, S. Heide, C. Nava, C. Depienne, A. Larson, D. Niyazov, M. Azage, G. Hoganson, J. Burton, E. T. Rush, J. L. Jenkins, C. J. Saunders, I. Thiffault, J. T. Alaimo, J. Fleischer, D. Groepper, K. W. Gripp and W. K. Chung (2020). "De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype." Am J Med Genet A 182(5): 962-973. PMID: 32031333
- Burton, B. K., J. Charrow, G. E. Hoganson, J. Fleischer, D. K. Grange, S. R. Braddock, L. Hitchins, R. Hickey, K. M. Christensen, D. Groepper, H. Shryock, P. Smith, R. Shao and K. Basheeruddin (2020). "Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants." Int J Neonatal Screen 6(1): 4. PMID: 33073003
- Zhang, S. Q., J. Fleischer, H. Al-Kateb, Y. Mito, I. Amarillo and M. Shinawi (2020). "Intragenic CNTN4 copy number variants associated with a spectrum of neurobehavioral phenotypes." Eur J Med Genet 63(3): 103736. PMID: 31422286
- Burton, B. K., G. E. Hoganson, J. Fleischer, D. K. Grange, S. R. Braddock, R. Hickey, L. Hitchins, D. Groepper, K. M. Christensen, A. Kirby, C. Moody, H. Shryock, L. Ashbaugh, R. Shao and K. Basheeruddin (2019). "Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience." J Pediatr 214: 165-167.e161. PMID: 31477379
- Song, M., A. Franco, J. A. Fleischer, L. Zhang and G. W. Dorn, 2nd (2017). "Abrogating Mitochondrial Dynamics in Mouse Hearts Accelerates Mitochondrial Senescence." Cell Metab 26(6): 872-883.e875. PMID: 29107503
- Franco, A., R. N. Kitsis, J. A. Fleischer, E. Gavathiotis, O. S. Kornfeld, G. Gong, N. Biris, A. Benz, N. Qvit, S. K. Donnelly, Y. Chen, S. Mennerick, L. Hodgson, D. Mochly-Rosen and G. W. Dorn, II (2016). "Correcting mitochondrial fusion by manipulating mitofusin conformations." Nature 540(7631): 74-79. PMID: 27775718
- Fleischer, J. A. and C. M. Lockwood (2014). "Newborn screening by whole-genome sequencing: ready for prime time?" Clin Chem 60(9): 1243-1244. PMID: 25170170
- Rattner, S. L., J. A. Fleischer and B. L. Davidson (1996). "Tuberculin positivity and patient contact in healthcare workers in the urban United States." Infect Control Hosp Epidemiol 17(6): 369-371. PMID: 8805069
- Strunk, R. C., J. A. Fleischer, Y. Katz and F. S. Cole (1994). "Developmentally regulated effects of lipopolysaccharide on biosynthesis of the third component of complement and factor B in human fibroblasts and monocytes." Immunology 82(2): 314-320. PMID: 7927503
Awards
Best Abstract in Basic Science, Department of Pediatrics Research Retreat, Washington University School of Medicine, 2016