Ward PA - Search Results

1

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.

del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, Hsich GE, Khera JR, Friedman NR, Zoghbi HY, Eng CM, Lupski JR, Beaudet AL, Cheung SW, Roa BB. del Gaudio D, et al. Among authors: ward pa. Genet Med. 2006 Dec;8(12):784-92. doi: 10.1097/01.gim.0000250502.28516.3c. Genet Med. 2006. PMID: 17172942 Free article.

2

Use of MALDI-TOF mass spectrometry in a 51-mutation test for cystic fibrosis: evidence that 3199del6 is a disease-causing mutation.

Buyse IM, McCarthy SE, Lurix P, Pace RP, Vo D, Bartlett GA, Schmitt ES, Ward PA, Oermann C, Eng CM, Roa BB. Buyse IM, et al. Among authors: ward pa. Genet Med. 2004 Sep-Oct;6(5):426-30. doi: 10.1097/01.gim.0000139508.61701.bd. Genet Med. 2004. PMID: 15371908

3

Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization.

Lee JA, Cheung SW, Ward PA, Inoue K, Lupski JR. Lee JA, et al. Among authors: ward pa. Prenat Diagn. 2005 Dec;25(13):1188-91. doi: 10.1002/pd.1308. Prenat Diagn. 2005. PMID: 16353282

4

DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.

Tang HY, Fang P, Ward PA, Schmitt E, Darilek S, Manolidis S, Oghalai JS, Roa BB, Alford RL. Tang HY, et al. Among authors: ward pa. Am J Med Genet A. 2006 Nov 15;140(22):2401-15. doi: 10.1002/ajmg.a.31525. Am J Med Genet A. 2006. PMID: 17041943 Free PMC article.

5

Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization.

Sahoo T, Cheung SW, Ward P, Darilek S, Patel A, del Gaudio D, Kang SH, Lalani SR, Li J, McAdoo S, Burke A, Shaw CA, Stankiewicz P, Chinault AC, Van den Veyver IB, Roa BB, Beaudet AL, Eng CM. Sahoo T, et al. Genet Med. 2006 Nov;8(11):719-27. doi: 10.1097/01.gim.0000245576.47154.63. Genet Med. 2006. PMID: 17108764 Free article.

6

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.

Lu X, Shaw CA, Patel A, Li J, Cooper ML, Wells WR, Sullivan CM, Sahoo T, Yatsenko SA, Bacino CA, Stankiewicz P, Ou Z, Chinault AC, Beaudet AL, Lupski JR, Cheung SW, Ward PA. Lu X, et al. Among authors: ward pa. PLoS One. 2007 Mar 28;2(3):e327. doi: 10.1371/journal.pone.0000327. PLoS One. 2007. PMID: 17389918 Free PMC article.

7

Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation.

Simovich MJ, Yatsenko SA, Kang SH, Cheung SW, Dudek ME, Pursley A, Ward PA, Patel A, Lupski JR. Simovich MJ, et al. Among authors: ward pa. Prenat Diagn. 2007 Dec;27(12):1112-7. doi: 10.1002/pd.1841. Prenat Diagn. 2007. PMID: 17849500

8

Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives.

Darilek S, Ward P, Pursley A, Plunkett K, Furman P, Magoulas P, Patel A, Cheung SW, Eng CM. Darilek S, et al. Genet Med. 2008 Jan;10(1):13-8. doi: 10.1097/GIM.0b013e31815f1ddb. Genet Med. 2008. PMID: 18197052 Free article. Review.

9

The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia.

Dimmock DP, Trapane P, Feigenbaum A, Keegan CE, Cederbaum S, Gibson J, Gambello MJ, Vaux K, Ward P, Rice GM, Wolff JA, O'Brien WE, Fang P. Dimmock DP, et al. Am J Med Genet A. 2008 Nov 15;146A(22):2885-90. doi: 10.1002/ajmg.a.32527. Am J Med Genet A. 2008. PMID: 18925679 Free PMC article.

10

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases.

Van den Veyver IB, Patel A, Shaw CA, Pursley AN, Kang SH, Simovich MJ, Ward PA, Darilek S, Johnson A, Neill SE, Bi W, White LD, Eng CM, Lupski JR, Cheung SW, Beaudet AL. Van den Veyver IB, et al. Among authors: ward pa. Prenat Diagn. 2009 Jan;29(1):29-39. doi: 10.1002/pd.2127. Prenat Diagn. 2009. PMID: 19012303 Free PMC article.

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