AmandaSmithMD

PubMed

• 4 citations
  Childhood acute myeloid leukemia shows a high level of germline predisposition
  Saumya E. Samaraweera, Paul Po-Shen Wang, Ka Leung Li, Debora A. Casolari, Jinghua Feng, Mark Pinese, Kyaw Ze Ya Maung, Paul Leo, Mark J. Cowley, Kelly Perkins, Amanda...> ;Blood. 2021 Sep 14
• 16 citations
  Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome.
  Amanda Smith, Taylor A. LaValle, Marwan Shinawi, Sai Mukund Ramakrishnan, Haley J. Abel, Cheryl A. Hill, Nicole M. Kirkland, Michael P. Rettig, Nichole M. Helton, Shar...> ;Nature Communications. 2021 Jul 27
• 4 citations
  Dnmt3a deficiency in the skin causes focal, canonical DNA hypomethylation and a cellular proliferation phenotype.
  David Y. Chen, Ian M. Ferguson, Krista A. Braun, Leslie A. Sutton, Nichole M. Helton, Sai Mukund Ramakrishnan, Amanda Smith, Christopher A. Miller, Timothy J. Ley> ;Proceedings of the National Academy of Sciences of the United States of America. 2021 Apr 20
• 19 citations
  Remethylation of Dnmt3a-/- hematopoietic cells is associated with partial correction of gene dysregulation and reduced myeloid skewing.
  Shamika Ketkar, Angela M. Verdoni, Amanda Smith, Celia V. Bangert, Elizabeth R. Leight, David Y. Chen, Meryl K. Brune, Nichole M. Helton, Mieke Hoock, Daniel R. George...> ;Proceedings of the National Academy of Sciences of the United States of America. 2020 Feb 11
• Erratum: PTEN deletion drives acute myeloid leukemia resistance to MEK inhibitors (Oncotarget (2019) 10 (5755-5767) DOI: 10.18632/oncotarget.27206)
  Amanda Smith, Christine R. Zhang, Alexandre S. Cristino, John P. Grady, J. Lynn Fink, Andrew S. Moore> ;Oncotarget. 2020 Jan 21
• 2 citations
  deletion drives acute myeloid leukemia resistance to MEK inhibitors.
  Amanda M Smith, Christine R C Zhang, Alexandre S Cristino, John P Grady, J Lynn Fink, Andrew S Moore> ;Oncotarget. 2019 Oct 8
• 6 citations
  Use of quantitative polymerase chain reaction (qPCR) for the diagnosis and monitoring of CNS leukaemia
  Yasar Mehmood Yousafzai, Linda Smith, Amanda Smith, Saeeda Bhatti, Mary Gardiner, Antony Cousins, Frances Fee, Sandra Chudleigh, Alison Spence, Wendy Taylor, Nicholas ...> ;Leukemia Research. 2019 Sep 30
• 18 citations
  A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC).
  Priya T. Bhola, Cathy Gilpin, Amanda Smith, Gail E. Graham> ;Familial Cancer. 2018 Feb 8
• 61 citations
  Haploinsufficiency for DNA methyltransferase 3A predisposes hematopoietic cells to myeloid malignancies
  Christopher B Cole, David A. Russler-Germain, Shamika Ketkar, Angela M. Verdoni, Amanda Smith, Celia V. Bangert, Nichole M. Helton, Mindy Guo, Jeffery M. Klco, Shelly ...> ;The Journal of Clinical Investigation. 2017 Sep 5
• Man With Painless Oral Lesions.
  Alexander Philip, Amanda W. Smith, Josh Greenstein, Barry Hahn> ;Annals of Emergency Medicine. 2017 May 1
• 6 citations
  Elastic Properties of Chimpanzee Craniofacial Cortical Bone
  Poorva Gharpure, Elias D. Kontogiorgos, Lynne A. Opperman, Callum F. Ross, David S. Strait, Amanda Smith, Leslie C. Pryor, Qian Wang, Paul C. Dechow> ;Anatomical Record. 2016 Dec 1
• 52 citations
  Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy.
  Kristin D. Kernohan, Laila C. Schenkel, Lijia Huang, Amanda Smith, Guillaume Paré, Peter Ainsworth, Kym M. Boycott, Jodi Warman-Chardon, Bekim Sadikovic> ;Clinical Epigenetics. 2016 Sep 5
• 99 citations
  DNM1L- related mitochondrial fission defect presenting as refractory epilepsy
  Jason R. Vanstone, Amanda Smith, Skye McBride, Turaya Naas, Martin Holcik, Ghadi Antoun, Mary-Ellen Harper, Jean Michaud, Erick Sell, Pranesh Chakraborty, Martine Tétr...> ;European Journal of Human Genetics. 2016 Jul 1
• 35 citations
  Activation of protein phosphatase 2A in FLT3+ acute myeloid leukemia cells enhances the cytotoxicity of FLT3 tyrosine kinase inhibitors
  Amanda Smith, Matthew D. Dun, Erwin M. Lee, Celeste L. Harrison, Richard G. S. Kahl, Hayley Flanagan, Nikita Panicker, Baratali Mashkani, Anthony S. Don, Jonathan C. M...> ;Oncotarget. 2016 Jun 19
• 18 citations
  Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency.
  Amanda Smith, Skye McBride, Julien L. Marcadier, Jean Michaud, Osama Y. Al-Dirbashi, Jeremy Schwartzentruber, Chandree L. Beaulieu, Sherri L. Katz, Jacek Majewski, Den...> ;JIMD Reports. 2016 Jun 16
• 18 citations
  Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.
  Christine M. Armour, Amanda Smith, Taila Hartley, Jodi Warman Chardon, Sarah L. Sawyer, Jeremy Schwartzentruber, Raoul C.M. Hennekam, Jacek Majewski, Dennis E. Bulman,...> ;American Journal of Medical Genetics. Part A. 2016 May 2
• 45 citations
  Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacy...
  Hugh J. McMillan, Peter Humphreys, Amanda Smith, Jeremy Schwartzentruber, Pranesh Chakraborty, Dennis E. Bulman, Chandree L. Beaulieu, Jacek Majewski, Kym M. Boycott, ...> ;Journal of Child Neurology. 2015 Jul 1
• 22 citations
  Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene.
  Amanda Smith, Dennis E. Bulman, Claire Goldsmith, Eric Bareke, Jacek Majewski, Kym M. Boycott, Sarah M. Nikkel> ;European Journal of Human Genetics. 2015 Jul 1
• 10 citations
  Targeting survivin with YM155 (Sepantronium Bromide): a novel therapeutic strategy for paediatric acute myeloid leukaemia.
  Amanda Smith, Erica Little, Andjelija Zivanovic, Priscilla Wei Ling Hong, Alfred K.S. Liu, Rachel Burow, Caedyn Stinson, Andrew R. Hallahan, Andrew S. Moore> ;Leukemia Research. 2015 Apr 1
• 8 citations
  Lake Louise Mutation Detection Meeting 2013: Clinical Translation of Next‐Generation Sequencing Requires Optimization of Workflows and Interpretation of Variants
  Amanda Smith, Kym M. Boycott, Olga Jarinova> ;Human Mutation. 2014 Feb 1
• 77 citations
  Exome Sequencing as a Diagnostic Tool for Pediatric‐Onset Ataxia
  Sarah L. Sawyer, Jeremy Schwartzentruber, Chandree L. Beaulieu, David A. Dyment, Amanda Smith, Jodi Warman Chardon, Grace Yoon, Guy A. Rouleau, Oksana Suchowersky, Vic...> ;Human Mutation. 2014 Jan 1
• 28 citations
  Vincristine sulfate liposomal injection for acute lymphoblastic leukemia
  Trisha A Soosay Raj, Amanda Smith, Andrew S. Moore> ;International Journal of Nanomedicine. 2013 Nov 6
• 27 citations
  Current and future disease progression of the chronic HCV population in the United States.
  Martin Zalesak, Kevin P. Francis, Alex Gedeon, John Gillis, Kyle Hvidsten, Phyllis Kidder, Hong Li, Derek C. Martyn, Leslie S. Orne, Amanda Smith, Ann D. Kwong> ;Plos One. 2013 May 21
• 36 citations
  Patient-reported outcomes for irritable bowel syndrome are associated with patients' severity ratings of gastrointestinal symptoms and psychological factors.
  Jeffrey M. Lackner, James Jaccard, Charles Baum, Amanda Smith, Susan S. Krasner, Leonard A. Katz, Rebecca Firth, Tatayna Raby, Cathrine Powell> ;Clinical Gastroenterology and Hepatology. 2011 Nov 1
• 28 citations
  TLE1 Modifies the Effects of NOD2 in the Pathogenesis of Crohn's Disease
  Elaine R. Nimmo, Craig Stevens, Anne M. Phillips, Amanda Smith, Hazel E. Drummond, Colin L. Noble, Michael A. Quail, G. Davies, Marian C Aldhous, David C. Wilson, Jack...> ;Gastroenterology. 2011 Sep 1
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