Cheung SW - Search Results

1

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.

Joshi RS, Garg P, Zaitlen N, Lappalainen T, Watson CT, Azam N, Ho D, Li X, Antonarakis SE, Brunner HG, Buiting K, Cheung SW, Coffee B, Eggermann T, Francis D, Geraedts JP, Gimelli G, Jacobson SG, Le Caignec C, de Leeuw N, Liehr T, Mackay DJ, Montgomery SB, Pagnamenta AT, Papenhausen P, Robinson DO, Ruivenkamp C, Schwartz C, Steiner B, Stevenson DA, Surti U, Wassink T, Sharp AJ. Joshi RS, et al. Among authors: cheung sw. Am J Hum Genet. 2016 Sep 1;99(3):555-566. doi: 10.1016/j.ajhg.2016.06.032. Epub 2016 Aug 25. Am J Hum Genet. 2016. PMID: 27569549 Free PMC article.

2

Prenatal diagnosis of a fetus with a homologous Robertsonian translocation of chromosomes 15.

Cheung SW, Shaffer LG, Richards CS, Page SL, Riconda DL. Cheung SW, et al. Am J Med Genet. 1997 Oct 3;72(1):47-50. doi: 10.1002/(sici)1096-8628(19971003)72:1<47::aid-ajmg10>3.0.co;2-u. Am J Med Genet. 1997. PMID: 9295074

3

Array-based comparative genomic hybridization facilitates identification of breakpoints of a novel der(1)t(1;18)(p36.3;q23)dn in a child presenting with mental retardation.

Lennon PA, Cooper ML, Curtis MA, Lim C, Ou Z, Patel A, Cheung SW, Bacino CA. Lennon PA, et al. Among authors: cheung sw. Am J Med Genet A. 2006 Jun 1;140(11):1156-63. doi: 10.1002/ajmg.a.31243. Am J Med Genet A. 2006. PMID: 16688748

4

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: cheung sw. Genet Med. 2006 Dec;8(12):784-92. doi: 10.1097/01.gim.0000250502.28516.3c. Genet Med. 2006. PMID: 17172942 Free article.

5

Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1).

Smyk M, Berg JS, Pursley A, Curtis FK, Fernandez BA, Bien-Willner GA, Lupski JR, Cheung SW, Stankiewicz P. Smyk M, et al. Among authors: cheung sw. Hum Genet. 2007 Aug;122(1):63-70. doi: 10.1007/s00439-007-0373-8. Epub 2007 May 15. Hum Genet. 2007. PMID: 17503084

6

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.

Berg JS, Brunetti-Pierri N, Peters SU, Kang SH, Fong CT, Salamone J, Freedenberg D, Hannig VL, Prock LA, Miller DT, Raffalli P, Harris DJ, Erickson RP, Cunniff C, Clark GD, Blazo MA, Peiffer DA, Gunderson KL, Sahoo T, Patel A, Lupski JR, Beaudet AL, Cheung SW. Berg JS, et al. Among authors: cheung sw. Genet Med. 2007 Jul;9(7):427-41. doi: 10.1097/gim.0b013e3180986192. Genet Med. 2007. PMID: 17666889 Free article.

7

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.

Ben-Shachar S, Ou Z, Shaw CA, Belmont JW, Patel MS, Hummel M, Amato S, Tartaglia N, Berg J, Sutton VR, Lalani SR, Chinault AC, Cheung SW, Lupski JR, Patel A. Ben-Shachar S, et al. Among authors: cheung sw. Am J Hum Genet. 2008 Jan;82(1):214-21. doi: 10.1016/j.ajhg.2007.09.014. Am J Hum Genet. 2008. PMID: 18179902 Free PMC article.

8

Molecular definition of high-resolution multicolor banding probes: first within the human DNA sequence anchored FISH banding probe set.

Weise A, Mrasek K, Fickelscher I, Claussen U, Cheung SW, Cai WW, Liehr T, Kosyakova N. Weise A, et al. Among authors: cheung sw. J Histochem Cytochem. 2008 May;56(5):487-93. doi: 10.1369/jhc.2008.950550. Epub 2008 Feb 5. J Histochem Cytochem. 2008. PMID: 18256020 Free PMC article.

9

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT, Picker J, Lenzi T, Keegan CE, Sutton VR, Belmont J, Chinault AC, Lupski JR, Cheung SW, Roeder E, Patel A. Ou Z, et al. Among authors: cheung sw. Genet Med. 2008 Apr;10(4):267-77. doi: 10.1097/GIM.0b013e31816b64c2. Genet Med. 2008. PMID: 18414210 Free article.

10

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.

Sahoo T, del Gaudio D, German JR, Shinawi M, Peters SU, Person RE, Garnica A, Cheung SW, Beaudet AL. Sahoo T, et al. Among authors: cheung sw. Nat Genet. 2008 Jun;40(6):719-21. doi: 10.1038/ng.158. Epub 2008 May 25. Nat Genet. 2008. PMID: 18500341 Free PMC article.

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