AntonyEdwinShrimptonMD

PubMed

• 6 citations
  GESPA: classifying nsSNPs to predict disease association
  Jay K. Khurana, Jay E. Reeder, Antony E. Shrimpton, Juilee Thakar> ;BMC Bioinformatics. 2015 Jul 25
• 2 citations
  ALK+ anaplastic large cell lymphoma exhibits phosphatidylinositol-3 kinase/akt activity with retained but inactivated PTEN—A report from the Children's Oncology Group†
  Charu Thakral, Robert E. Hutchison, Antony E. Shrimpton, Donna Barrett, Joseph Laver, Michael P. Link, Devin R. Halleran, Sandra Hudson> ;Pediatric Blood & Cancer. 2012 Apr 5
• 9 citations
  Development and Characterization of Reference Materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 Genetic Testing
  Shannon D. Barker, Sherri J. Bale, Jessica K. Booker, Arlene Buller, Soma Das, Kenneth D. Friedman, Andrew K. Godwin, Wayne W. Grody, Edward W. Highsmith, Jeffery A. K...> ;The Journal of Molecular Diagnostics. 2009 Nov 1
• 71 citations
  OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability.
  Antony E. Shrimpton, Richard R. Hoopes, Stephen J. Knohl, Paul Hueber, Anita A C Reed, Paul T. Christie, Takashi Igarashi, Philip J. Lee, Anna Lehman, Colin White, Dav...> ;Nephron. Physiology. 2009 Apr 18
• 5 citations
  Distal 3p deletion is not necessarily associated with dysmorphic features or psychomotor delay.
  Joe J. Hoo, Antony E. Shrimpton> ;American Journal of Medical Genetics. Part A. 2008 Feb 15
• 11 citations
  Detection of FOXO1 (FKHR) gene break-apart by fluorescence in situ hybridization in formalin-fixed, paraffin-embedded alveolar rhabdomyosarcomas and its clinicopatholo...
  Shveta Mehra, Gustavo de la Roza, Jamie Tull, Antony Shrimpton, Alfredo L. Valente, Shengle Zhang> ;Diagnostic Molecular Pathology. 2008 Mar 1
• 31 citations
  A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis.
  Antony E. Shrimpton, Robert L. Schelper, Reinhold P. Linke, John Hardy, Richard Crook, Dennis W. Dickson, Takashi Ishizawa, Richard L. Davis> ;Neuropathology. 2007 Jun 1
• 24 citations
  A TNNI2 mutation in a family with distal arthrogryposis type 2B.
  Antony E. Shrimpton, Joe J. Hoo> ;European Journal of Medical Genetics. 2006 Mar 1
• 17 citations
  Karyotype-phenotype analysis and molecular delineation of a 3p26 deletion/8q24.3 duplication case with a virtually normal phenotype and mild cognitive deficit.
  Antony E. Shrimpton, Kimberly A. Jensen, Joe J. Hoo> ;American Journal of Medical Genetics. Part A. 2006 Feb 15
• 25 citations
  Complete maternal uniparental isodisomy of chromosome 4 in a subject with major depressive disorder detected by high density SNP genotyping arrays
  Frank A. Middleton, Marco G. Trauzzi, Antony E. Shrimpton, Karen L. Gentile, Christopher P. Morley, Helena Medeiros, Michele T. Pato, Carlos N. Pato> ;American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics. 2006 Jan 5
• 6 citations
  Characterization of Publicly Available Lymphoblastoid Cell Lines for Disease-Associated Mutations in 11 Genes
  Susan H. Bernacki, Jeanne C. Beck, Kasinathan Muralidharan, Frederick V. Schaefer, Antony E. Shrimpton, Kristy L. Richie, Barbara C. Levin, Genevieve Pont-Kingdon, Tim...> ;Clinical Chemistry. 2005 Nov 1
• 6 citations
  Genetically characterized positive control cell lines derived from residual clinical blood samples.
  Susan H. Bernacki, Jeanne C. Beck, Ana K. Stankovic, Laurina O. Williams, Jean A. Amos, Karen Snow-Bailey, Daniel H. Farkas, Michael J. Friez, Feras M. Hantash, Karla ...> ;Clinical Chemistry. 2005 Nov 1
• 229 citations
  Dent Disease with Mutations in OCRL1
  Richard R. Hoopes, Antony E. Shrimpton, Stephen J. Knohl, Paul Hueber, Bernd Hoppe, János Mátyus, Ari M. Simckes, Velibor Tasic, Burkhard Toenshoff, Sharon F. Suchy, R...> ;American Journal of Human Genetics. 2005 Feb 1
• 5 citations
  Familial hyper- and hypopigmentation with age-related pattern change
  Joe J. Hoo, Antony E. Shrimpton> ;American Journal of Medical Genetics. Part A. 2005 Jan 15
• Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype.
  Shrimpton, A. E., Braddock, B. R., Thomson, L. L., Stein, C. K., Hoo, J. J.> ;Clin Genet. 2004 Dec
• 1 citations
  Congenital vertical talus in four generations of the same family.
  E. Mark Levinsohn, Antony E. Shrimpton, Robert B. Cady, David S. Packard, David R. Hootnick> ;Skeletal Radiology. 2004 Sep 11
• 7 citations
  A New HLA-A1 Mutation A Novel, Null Variant Allele
  John Bernard Henry, Charlene Hubbell, Mary C. Davis, Marcelo Fernandez-Vina, Edmond J. Yunis, Antony E. Shrimpton> ;American Journal of Clinical Pathology. 2004 Aug 1
• 52 citations
  A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease.
  Antony E. Shrimpton, E. Mark Levinsohn, Justin M. Yozawitz, David S. Packard, Robert B. Cady, Frank A. Middleton, Antonio M. Persico, David R. Hootnick> ;American Journal of Human Genetics. 2004 Jul 1
• 8 citations
  Bioelectronic sensor technology for detection of cystic fibrosis and hereditary hemochromatosis mutations.
  Susan H. Bernacki, Daniel H. Farkas, Wenmei Shi, Vivian Chan, Yenbou Liu, Jeanne C. Beck, Karen Snow Bailey, Victoria M. Pratt, Kristin G. Monaghan, Karla J. Matteson,...> ;Archives of Pathology & Laboratory Medicine. 2003 Dec 1
• 1 citations
  Cystic Fibrosis: S158N (605G → A) Is a Rare Genetic Variant Found in Coupling with ΔF508
  Karen Hicks, Wendy Beadling, Antony E. Shrimpton> ;Genetic Testing. 2003 Jan 1
• 123 citations
  Association between conformational mutations in neuroserpin and onset and severity of dementia
  Richard L. Davis, Antony E. Shrimpton, Robin W. Carrell, David A. Lomas, Lieselotte Gerhard, Bruno Baumann, Daniel A. Lawrence, Manuel Yepes, Tai Seung Kim, Bernardino...> ;Lancet. 2002 Jun 29
• 6 citations
  Molecular diagnosis of cystic fibrosis.
  Antony E. Shrimpton> ;Expert Review of Molecular Diagnostics. 2002 May 1
• 26 citations
  Inheritance of osteosarcoma and Paget's disease of bone: a familial loss of heterozygosity study.
  Julie D. K. McNairn, Timothy A. Damron, Steve K. Landas, J. Lee Ambrose, Antony E. Shrimpton> ;The Journal of Molecular Diagnostics. 2001 Nov 1
• 35 citations
  Cognitive deficits associated with a recently reported familial neurodegenerative disease: familial encephalopathy with neuroserpin inclusion bodies.
  Charles B. Bradshaw, Richard L. Davis, Antony E. Shrimpton, P D Holohan, Cornelia B. Rea, David Fieglin, Paul F. Kent, George H. Collins> ;Archives of Neurology. 2001 Sep 1
• 12 citations
  A PCR assay for detecting clonal rearrangement of the TCR-gamma gene.
  Celeste Lamberson, Robert E. Hutchison, Antony E. Shrimpton> ;Molecular Diagnosis. 2001 Jun 1
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