Ward PA - Search Results

1

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.

Zhang J, Gambin T, Yuan B, Szafranski P, Rosenfeld JA, Balwi MA, Alswaid A, Al-Gazali L, Shamsi AMA, Komara M, Ali BR, Roeder E, McAuley L, Roy DS, Manchester DK, Magoulas P, King LE, Hannig V, Bonneau D, Denommé-Pichon AS, Charif M, Besnard T, Bézieau S, Cogné B, Andrieux J, Zhu W, He W, Vetrini F, Ward PA, Cheung SW, Bi W, Eng CM, Lupski JR, Yang Y, Patel A, Lalani SR, Xia F, Stankiewicz P. Zhang J, et al. Among authors: ward pa. Hum Genet. 2017 Apr;136(4):377-386. doi: 10.1007/s00439-017-1763-1. Epub 2017 Mar 1. Hum Genet. 2017. PMID: 28251352 Free PMC 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

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.

5

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.

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

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.

10

LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining.

Oshima J, Lee JA, Breman AM, Fernandes PH, Babovic-Vuksanovic D, Ward PA, Wolfe LA, Eng CM, Del Gaudio D. Oshima J, et al. Among authors: ward pa. J Hum Genet. 2011 Jul;56(7):516-23. doi: 10.1038/jhg.2011.51. Epub 2011 May 19. J Hum Genet. 2011. PMID: 21593745

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