RobinChanelRytherMD

PubMed

• 3 citations
  Analysis of X-inactivation status in a Rett syndrome natural history study cohort.
  Xiaolan Fang, Kameryn M Butler, Fatima Abidi, Jennifer Gass, Arthur Beisang, Timothy Feyma, Robin C Ryther, Shannon Standridge, Peter Heydemann, Mary Jones, Richard Ha...> ;Molecular Genetics & Genomic Medicine. 2022 May 1
• 3 citations
  Anthropometric Measures Correspond with Functional Motor Outcomes in Females with Rett Syndrome.
  Kathleen J Motil, Suzanne Geerts, Fran Annese, Jeffrey L Neul, Tim Benke, Eric Marsh, David Lieberman, Steven A Skinner, Daniel G Glaze, Peter Heydemann, Arthur Beisan...> ;The Journal of Pediatrics. 2022 May 1
• 12 citations
  Phenotypic features in MECP2 duplication syndrome: Effects of age.
  Sarika U. Peters, Cary Fu, Eric D. Marsh, Tim A. Benke, Bernard Suter, Steve A. Skinner, David N. Lieberman, Shannon Michelle Standridge, Mary Jones, Arthur A. Beisang...> ;American Journal of Medical Genetics. Part A. 2021 Feb 1
• 32 citations
  Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.
  , , , , , , , , , , , , , , , > ;Clinical Genetics. 2019 May 1
• 39 citations
  The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2.
  Jeffrey L. Neul, Tim A. Benke, Eric D. Marsh, Steven A. Skinner, Jonathan K. Merritt, David N. Lieberman, Shannon M. Standridge, Timothy Feyma, Peter Heydemann, Sarika...> ;American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics. 2018 Dec 7
• 3 citations
  Developing the Pediatric Refractory Epilepsy Questionnaire: a pilot study.
  Vaishnavi Purusothaman, Robin C. C. Ryther, Mary Bertrand, Lisa A. Harker, Donna B. Jeffe, Michael Wallendorf, Matthew D. Smyth, David D. Limbrick> ;Epilepsy & Behavior. 2014 Aug 1
• 85 citations
  Impact of pediatric epilepsy on sleep patterns and behaviors in children and parents
  Anna M. Larson, Robin C. C. Ryther, Melanie Jennesson, Alexandra L. Geffrey, Patricia L. Bruno, Christina J. Anagnos, Ali Shoeb, Ronald L. Thibert, Elizabeth A. Thiele> ;Epilepsia. 2012 Jul 1
• 39 citations
  Mammalian target of rapamycin (mTOR) inhibition: potential for antiseizure, antiepileptogenic, and epileptostatic therapy.
  Robin C. C. Ryther, Michael Wong> ;Current Neurology and Neuroscience Reports. 2012 Apr 29
• 9 citations
  Carotid dissection in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes
  Robin C. C. Ryther, Yoon Andrew Cho-Park, Jong Woo Lee> ;Journal of Neurology. 2011 May 1
• Central Nervous System Hemorrhage
  Joshua P. Klein, Robin C. C. Ryther> ;The New England Journal of Medicine. 2009 Dec 10
• 12 citations
  Rescue of Pituitary Function in a Mouse Model of Isolated Growth Hormone Deficiency Type II by RNA Interference
  Nikki Shariat, Robin C. C. Ryther, John A. Phillips, Iain C. A. F. Robinson, James G. Patton> ;Endocrinology. 2008 Feb 1
• 50 citations
  GH1 splicing is regulated by multiple enhancers whose mutation produces a dominant-negative GH isoform that can be degraded by allele-specific small interfering RNA (s...
  Robin C. C. Ryther, Alex S. Flynt, Bryan Harris, John A. Phillips, James G. Patton> ;Endocrinology. 2004 Jun 1
• 46 citations
  Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II.
  Robin C. C. Ryther, Lindsay McGuinness, John A. Phillips, Chanda T. Moseley, Charalambos Magoulas, Iain C. A. F. Robinson, James G. Patton> ;Human Genetics. 2003 Apr 29
• 227 citations
  siRNA therapeutics: big potential from small RNAs
  Robin C. C. Ryther, Alex S. Flynt, John A. Phillips, James G. Patton> ;Gene Therapy. 2005 Jan 1
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