JulieA(Schien)FleischerMD

PubMed

• Loeys-Dietz syndrome caused by 1q41 deletion including TGFB2 is associated with a neurodevelopmental phenotype.
  Deanna Fry, Daniel Groepper, Gretchen MacCarrick, Erin M Demo, Matthew J Thomas, Margaret J Wilkes, Michael J Lyons, Megan E Tucker, Catherine Steding, Julie Fleischer> ;American Journal of Medical Genetics. Part A. 2022 Jul 1
• 13 citations
  CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity
  Michelle E. Ernst, Evan H. Baugh, Amanda Thomas, Louise Bier, Natalie Lippa, Nicholas Stong, Maureen S. Mulhern, Sulagna Kushary, Cigdem I. Akman, Erin L. Heinzen, Ray...> ;Epilepsia. 2021 May 26
• 13 citations
  Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
  Ilaria Mannucci, Nghi Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff, Siddharth Banka, Gareth Baynam, David Bearden, Ana Beleza-Meireles, Paul J....> ;Genome Medicine. 2021 May 21
• 25 citations
  TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
  Geeske M. van Woerden, Melanie Bos, Charlotte de Konink, Ben Distel, Rossella Avagliano Trezza, Natasha Shur, Kristin W. Barañano, Sonal Mahida, Anna Chassevent, Allis...> ;Human Mutation. 2021 Feb 10
• 10 citations
  Intragenic CNTN4 copy number variants associated with a spectrum of neurobehavioral phenotypes.
  Stephanie Q. Zhang, Julie Fleischer, Hussam Al-Kateb, Yoshiko Mito, Ina E Amarillo, Marwan Shinawi> ;European Journal of Medical Genetics. 2020 Mar 1
• 3 citations
  De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
  Ilana Chilton, Volkan Okur, Giuseppina Vitiello, Angelo Selicorni, Milena Mariani, Alice Goldenberg, Thomas Husson, Dominique Campion, Klaske D. Lichtenbelt, Koen L.I....> ;American Journal of Medical Genetics. Part A. 2020 Feb 7
• 12 citations
  Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.
  Barbara K Burton, Joel Charrow, George E Hoganson, Julie Fleischer, Dorothy K Grange, Stephen R Braddock, Lauren Hitchins, Rachel Hickey, Katherine M Christensen, Dani...> ;International Journal of Neonatal Screening. 2020 Mar 1
• 13 citations
  Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience
  Barbara K. Burton, George E. Hoganson, Julie Fleischer, Dorothy K. Grange, Stephen R. Braddock, Rachel Hickey, Lauren Hitchins, Daniel Groepper, Katherine M. Christens...> ;The Journal of Pediatrics. 2019 Nov 1
• 199 citations
  Abrogating Mitochondrial Dynamics in Mouse Hearts Accelerates Mitochondrial Senescence
  Moshi Song, Antonietta Franco, Julie Fleischer, Lihong Zhang, Gerald W. Dorn> ;Cell Metabolism. 2017 Dec 5
• 165 citations
  Correcting mitochondrial fusion by manipulating mitofusin conformations
  Antonietta Franco, Richard N. Kitsis, Julie Fleischer, Evripidis Gavathiotis, Opher S. Kornfeld, Guohua Gong, Nikolaos Biris, Ann Benz, Nir Qvit, Sara K. Donnelly, Yun...> ;Nature. 2016 Dec 1
• 6 citations
  Digynic triploidy: utility and challenges of noninvasive prenatal testing.
  Julie Fleischer, Archana Shenoy, Katherine Goetzinger, Catherine E. Cottrell, Dustin Baldridge, Frances V. White, Marwan Shinawi> ;Clinical Case Reports. 2015 Jun 1
• 1 citations
  Newborn Screening by Whole-Genome Sequencing: Ready for Prime Time?
  Julie Fleischer, Christina M. Lockwood> ;Clinical Chemistry. 2014 Sep 1
• 5 citations
  Tuberculin Positivity and Patient Contact in Healthcare Workers in the Urban United States
  Susan L. Rattner, Julie Fleischer, Bruce L. Davidson> ;Infection Control and Hospital Epidemiology. 1996 Jun 1
• 7 citations
  Developmentally regulated effects of lipopolysaccharide on biosynthesis of the third component of complement and factor B in human fibroblasts and monocytes.
  R C Strunk, Julie Fleischer, Y Katz, F S Cole> ;Immunology. 1994 Jun 1
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