CatharineJeanHarrisMD

PubMed

• 24 citations
  Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations
  Joel J. Hughes, Ebba Alkhunaizi, Paul Kruszka, Louise C. Pyle, Dorothy K. Grange, Seth I. Berger, Katelyn Payne, Diane Masser-Frye, Tommy Hu, Michelle R. Christie, Nan...> ;American Journal of Human Genetics. 2020 Jan 2
• 2 citations
  A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome.
  Tomoko Tanaka, Catharine J. Harris, Sarah S. Barnett, N. Scott Litofsky> ;Case Reports in Neurological Medicine. 2016 Dec 27
• 54 citations
  Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study
  Ghayda M. Mirzaa, Valerio Conti, Andrew E. Timms, Christopher D. Smyser, Sarah Ahmed, Melissa T. Carter, Sarah Barnett, Robert B. Hufnagel, Amy Goldstein, Yoko Narumi-...> ;The Lancet. Neurology. 2015 Dec 1
• 5 citations
  Paternal fibrillin-1 mutation transmitted to an affected son with neonatal marfan syndrome: the importance of early recognition.
  Huda Elshershari, Catharine Harris> ;Cardiology in the Young. 2014 Aug 1
• 49 citations
  Case series: 2q33.1 microdeletion syndrome—further delineation of the phenotype
  Meena Balasubramanian, Kath Smith, Lina Basel-Vanagaite, M F Feingold, Pamela L. Brock, Gordon C. Gowans, Pradeep C. Vasudevan, Lara Cresswell, E J Taylor, Catharine J...> ;Journal of Medical Genetics. 2011 May 1
• 83 citations
  Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes
  Shawna M. Pyott, Ulrike Schwarze, Helena E. Christiansen, Melanie Pepin, Dru F. Leistritz, Richard Dineen, Catharine J. Harris, Barbara K. Burton, Brad Angle, Katherin...> ;Human Molecular Genetics. 2011 Apr 15
• 28 citations
  aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy.
  Aaron Theisen, Jill A. Rosenfeld, Sandra A. Farrell, Catharine J. Harris, Heather H. Wetzel, Beth A. Torchia, Bassem A. Bejjani, Blake C. Ballif, Lisa G. Shaffer> ;American Journal of Medical Genetics. Part A. 2009 May 1
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