Shrimpton AE - Search Results

1

GESPA: classifying nsSNPs to predict disease association.

Khurana JK, Reeder JE, Shrimpton AE, Thakar J. Khurana JK, et al. Among authors: shrimpton ae. BMC Bioinformatics. 2015 Jul 25;16:228. doi: 10.1186/s12859-015-0673-2. BMC Bioinformatics. 2015. PMID: 26206375 Free PMC article.

2

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

Barker SD, Bale S, Booker J, Buller A, Das S, Friedman K, Godwin AK, Grody WW, Highsmith E, Kant JA, Lyon E, Mao R, Monaghan KG, Payne DA, Pratt VM, Schrijver I, Shrimpton AE, Spector E, Telatar M, Toji L, Weck K, Zehnbauer B, Kalman LV. Barker SD, et al. Among authors: shrimpton ae. J Mol Diagn. 2009 Nov;11(6):553-61. doi: 10.2353/jmoldx.2009.090078. Epub 2009 Sep 18. J Mol Diagn. 2009. PMID: 19767587 Free PMC article.

3

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

Shrimpton AE, Hoopes RR Jr, Knohl SJ, Hueber P, Reed AA, Christie PT, Igarashi T, Lee P, Lehman A, White C, Milford DV, Sanchez MR, Unwin R, Wrong OM, Thakker RV, Scheinman SJ. Shrimpton AE, et al. Nephron Physiol. 2009;112(2):p27-36. doi: 10.1159/000213506. Epub 2009 Apr 18. Nephron Physiol. 2009. PMID: 19390221

4

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

Hoo JJ, Shrimpton AE. Hoo JJ, et al. Among authors: shrimpton ae. Am J Med Genet A. 2008 Feb 15;146A(4):538. doi: 10.1002/ajmg.a.32158. Am J Med Genet A. 2008. PMID: 18203205 No abstract available.

5

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

Shrimpton AE, Schelper RL, Linke RP, Hardy J, Crook R, Dickson DW, Ishizawa T, Davis RL. Shrimpton AE, et al. Neuropathology. 2007 Jun;27(3):228-32. doi: 10.1111/j.1440-1789.2007.00766.x. Neuropathology. 2007. PMID: 17645236

6

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

Shrimpton AE, Hoo JJ. Shrimpton AE, et al. Eur J Med Genet. 2006 Mar-Apr;49(2):201-6. doi: 10.1016/j.ejmg.2005.06.003. Epub 2005 Jul 11. Eur J Med Genet. 2006. PMID: 16497570

7

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

Shrimpton AE, Jensen KA, Hoo JJ. Shrimpton AE, et al. Am J Med Genet A. 2006 Feb 15;140(4):388-91. doi: 10.1002/ajmg.a.31066. Am J Med Genet A. 2006. PMID: 16411192 No abstract available.

8

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

Middleton FA, Trauzzi MG, Shrimpton AE, Gentile KL, Morley CP, Medeiros H, Pato MT, Pato CN. Middleton FA, et al. Among authors: shrimpton ae. Am J Med Genet B Neuropsychiatr Genet. 2006 Jan 5;141B(1):28-32. doi: 10.1002/ajmg.b.30250. Am J Med Genet B Neuropsychiatr Genet. 2006. PMID: 16331669

9

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

Bernacki SH, Beck JC, Muralidharan K, Schaefer FV, Shrimpton AE, Richie KL, Levin BC, Pont-Kingdon G, Stenzel TT. Bernacki SH, et al. Among authors: shrimpton ae. Clin Chem. 2005 Nov;51(11):2156-9. doi: 10.1373/clinchem.2005.048686. Clin Chem. 2005. PMID: 16244288 No abstract available.

10

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

Bernacki SH, Beck JC, Stankovic AK, Williams LO, Amos J, Snow-Bailey K, Farkas DH, Friez MJ, Hantash FM, Matteson KJ, Monaghan KG, Muralidharan K, Pratt VM, Prior TW, Richie KL, Levin BC, Rohlfs EM, Schaefer FV, Shrimpton AE, Spector EB, Stolle CA, Strom CM, Thibodeau SN, Cole EC, Goodman BK, Stenzel TT. Bernacki SH, et al. Among authors: shrimpton ae. Clin Chem. 2005 Nov;51(11):2013-24. doi: 10.1373/clinchem.2005.048694. Epub 2005 Sep 15. Clin Chem. 2005. PMID: 16166172

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