Publications by authors named "Antony E Shrimpton"

19Publications

GESPA: classifying nsSNPs to predict disease association.

Authors:
Jay K Khurana Jay E Reeder Antony E Shrimpton Juilee Thakar

BMC Bioinformatics 2015 Jul 25;16:228. Epub 2015 Jul 25.

Department of Microbiology and Immunology, University of Rochester, Rochester, NY, USA.

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July 2015

Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing.

Authors:
Shannon D Barker Sherri Bale Jessica Booker Arlene Buller Soma Das Kenneth Friedman Andrew K Godwin Wayne W Grody Edward Highsmith Jeffery A Kant Elaine Lyon Rong Mao Kristin G Monaghan Deborah A Payne Victoria M Pratt Iris Schrijver Antony E Shrimpton Elaine Spector Milhan Telatar Lorraine Toji Karen Weck Barbara Zehnbauer Lisa V Kalman

J Mol Diagn 2009 Nov 18;11(6):553-61. Epub 2009 Sep 18.

Division of Laboratory Systems, Centers for Disease Control and Prevention, 1600 Clifton Rd NE, G23, Atlanta, GA 30329-4018, USA.

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November 2009

OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability.

Authors:
Antony E Shrimpton Richard R Hoopes Stephen J Knohl Paul Hueber Anita A C Reed Paul T Christie Takashi Igarashi Philip Lee Anna Lehman Colin White David V Milford Manuel Rivero Sanchez Robert Unwin Oliver M Wrong Rajesh V Thakker Steven J Scheinman

Nephron Physiol 2009 18;112(2):p27-36. Epub 2009 Apr 18.

Department of Pathology, SUNY Upstate Medical University, Syracuse, N.Y. 13346, USA.

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July 2009

Distal 3p deletion is not necessarily associated with dysmorphic features or psychomotor delay.

Authors:
Joe J Hoo Antony E Shrimpton

Am J Med Genet A 2008 Feb;146A(4):538

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February 2008

A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis.

Authors:
Antony E Shrimpton Robert L Schelper Reinhold P Linke John Hardy Richard Crook Dennis W Dickson Takashi Ishizawa Richard L Davis

Neuropathology 2007 Jun;27(3):228-32

Department of Pathology, SUNY Upstate Medical University, 750 E Adams St, Syracuse, NY 13210, USA.

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June 2007

A TNNI2 mutation in a family with distal arthrogryposis type 2B.

Authors:
Antony E Shrimpton Joe J Hoo

Eur J Med Genet 2006 Mar-Apr;49(2):201-6. Epub 2005 Jul 11.

Department of Pathology, SUNY Upstate Medical University, 750 E. Adams St., Syracuse, NY 13210, USA.

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April 2009

Karyotype-phenotype analysis and molecular delineation of a 3p26 deletion/8q24.3 duplication case with a virtually normal phenotype and mild cognitive deficit.

Authors:
Antony E Shrimpton Kimberly A Jensen Joe J Hoo

Am J Med Genet A 2006 Feb;140(4):388-91

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February 2006

Complete maternal uniparental isodisomy of chromosome 4 in a subject with major depressive disorder detected by high density SNP genotyping arrays.

Authors:
Frank A Middleton Marco G Trauzzi Antony E Shrimpton Karen L Gentile Christopher P Morley Helena Medeiros Michele T Pato Carlos N Pato

Am J Med Genet B Neuropsychiatr Genet 2006 Jan;141B(1):28-32

Department of Neuroscience & Physiology, SUNY Upstate Medical University, Syracuse, NY, USA.

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January 2006

Characterization of publicly available lymphoblastoid cell lines for disease-associated mutations in 11 genes.

Authors:
Susan H Bernacki Jeanne C Beck Kasinathan Muralidharan Frederick V Schaefer Antony E Shrimpton Kristy L Richie Barbara C Levin Genevieve Pont-Kingdon Timothy T Stenzel

Clin Chem 2005 Nov;51(11):2156-9

Department of Pathology, Duke University Medical Center, Durham, NC, USA.

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November 2005

Genetically characterized positive control cell lines derived from residual clinical blood samples.

Authors:
Susan H Bernacki Jeanne C Beck Ana K Stankovic Laurina O Williams Jean Amos Karen Snow-Bailey Daniel H Farkas Michael J Friez Feras M Hantash Karla J Matteson Kristin G Monaghan Kasinathan Muralidharan Victoria M Pratt Thomas W Prior Kristy L Richie Barbara C Levin Elizabeth M Rohlfs Frederick V Schaefer Antony E Shrimpton Elaine B Spector Catherine A Stolle Charles M Strom Stephen N Thibodeau Eugene C Cole Barbara K Goodman Timothy T Stenzel

Clin Chem 2005 Nov 15;51(11):2013-24. Epub 2005 Sep 15.

Department of Pathology, Duke University Medical Center, Durham, NC, USA.

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November 2005

Dent Disease with mutations in OCRL1.

Authors:
Richard R Hoopes Antony E Shrimpton Stephen J Knohl Paul Hueber Bernd Hoppe Janos Matyus Ari Simckes Velibor Tasic Burkhard Toenshoff Sharon F Suchy Robert L Nussbaum Steven J Scheinman

Am J Hum Genet 2005 Feb 30;76(2):260-7. Epub 2004 Dec 30.

Department of Medicine, SUNY Upstate Medical University, Syracuse, NY, USA.

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February 2005

Familial hyper- and hypopigmentation with age-related pattern change.

Authors:
Joe J Hoo Antony E Shrimpton

Am J Med Genet A 2005 Jan;132A(2):215-8

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January 2005

Congenital vertical talus in four generations of the same family.

Authors:
E Mark Levinsohn Antony E Shrimpton Robert B Cady David S Packard David R Hootnick

Skeletal Radiol 2004 Nov 11;33(11):649-54. Epub 2004 Sep 11.

Department of Medical Imaging, Crouse Hospital, 736 Irving Ave., Syracuse, NY 13210, USA.

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November 2004

A new HLA-A1 mutation: a novel, null variant allele.

Authors:
John Bernard Henry Charlene A Hubbell Mary C Davis Marcelo A Fernandez-Vina Edmond J Yunis Antony E Shrimpton

Am J Clin Pathol 2004 Aug;122(2):185-92

Department of Pathology, SUNY Upstate Medical University, Syracuse, NY 13210, USA.

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August 2004

A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease.

Authors:
Antony E Shrimpton E Mark Levinsohn Justin M Yozawitz David S Packard Robert B Cady Frank A Middleton Antonio M Persico David R Hootnick

Am J Hum Genet 2004 Jul 14;75(1):92-6. Epub 2004 May 14.

Department of Clinical Pathology, State University of New York, Upstate Medical University, Syracuse, 13210, USA.

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July 2004

Bioelectronic sensor technology for detection of cystic fibrosis and hereditary hemochromatosis mutations.

Authors:
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 Frederick V Schaefer Michael Friez Antony E Shrimpton Timothy T Stenzel

Arch Pathol Lab Med 2003 Dec;127(12):1565-72

Department of Pathology, Duke University Medical Center, Durham, NC, USA.

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December 2003

Cystic fibrosis: S158N (605G --> A) is a rare genetic variant found in coupling with deltaF508.

Authors:
Karen Hicks Wendy Beadling Antony E Shrimpton

Genet Test 2003 ;7(1):73-6

Department of Clinical Pathology, SUNY Upstate Medical University, Syracuse, NY 13210, USA.

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November 2003

Association between conformational mutations in neuroserpin and onset and severity of dementia.

Authors:
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 Ghetti Pedro Piccardo Masaki Takao Felicitas Lacbawan Maximilian Muenke Richard N Sifers Charles B Bradshaw Paul F Kent George H Collins Daria Larocca Peter D Holohan

Lancet 2002 Jun;359(9325):2242-7

Department of Pathology, Upstate Medical University, Syracuse, NY, USA.

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June 2002

Molecular diagnosis of cystic fibrosis.

Authors:
Antony E Shrimpton

Expert Rev Mol Diagn 2002 May;2(3):240-56

SUNY Upstate Medical University, 750E Adams Street, Syracuse, NY 13210, USA.

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May 2002