August 2008

Fanella S, Embree J, Arora B, Goel S, Probst FJ, Patel A, Beaudet AL. Index of suspicion. Pediatr. Rev. 2008 Aug; 29(8): 281-7.

Brunetti-Pierri N, Sahoo T, Frioux S, Chinault C, Zascavage R, Cheung SW, Peters S, Shinawi M. 15q13q14 deletions: phenotypic characterization and molecular delineation by comparative genomic hybridization. Am. J. Med. Genet. A. 2008 Aug 1; 146A(15): 1933-41.

Jiang YH, Martinez JE, Ou Z, Cooper ML, Kang SH, Pursley A, Cheung SW. De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently "balanced" paracentric inversion of 14(q21q23). Am. J. Med. Genet. A. 2008 Aug 1; 146A(15): 1986-93.

July 2008

Shao L, Shaw CA, Lu XY, Sahoo T, Bacino CA, Lalani SR, Stankiewicz P, Yatsenko SA, Li Y, Neill S, Pursley AN, Chinault AC, Patel A, Beaudet AL, Lupski JR, Cheung SW. Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5,380 cases. Am. J. Med. Genet. A. 2008 Jul 28; 146A(17): 2242-2251.

Shchelochkov OA, Cooper ML, Ou Z, Peacock S, Yatsenko SA, Brown CW, Fang P, Stankiewicz P, Cheung SW. Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) Provides Insight into the Possible Mechanism of Rearrangement. Mol. Cytogenet. 2008 Jul 25; 1(1): 16. [Epub ahead of print]

Simovich MJ, Bland SD, Peiffer DA, Gunderson KL, Cheung SW, Yatsenko SA, Shinawi M. Delineation of the proximal 3q microdeletion syndrome. Am. J. Med. Genet. A. 2008 Jul 1; 146A(13): 1729-35.

May 2008

Weise A, Mrasek K, Fickelscher I, Claussen U, Cheung SW, Cai WW, Liehr T, Kosyakova N. Molecular definition of high-resolution multicolor banding probes: first within the human DNA sequence anchored FISH banding probe set. J. Histochem. Cytochem. 2008 May; 56(5): 487-93. Epub 2008 Feb 5.

Sahoo T, del Gaudio D, German JR, Shinawi M, Peters SU, Person RE, Garnica A, Cheung SW, Beaudet AL. Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat. Genet. 2008 Jun; 40(6): 719-21. Epub 2008 May 25.

Probst FJ, Cooper ML, Cheung SW, Justice MJ. Genotype, Phenotype, and Karyotype Correlation in the XO Mouse Model of Turner Syndrome. J. Hered. 2008 May 21. [Epub ahead of print]

Shinawi M, Erez A, Shardy DL, Lee B, Naeem R, Weissenberger G, Chinault AC, Cheung SW, Plon SE. Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q. Blood 2008 May 16. [Epub ahead of print]

April 2008

Shinawi M, Shao L, Jeng LJ, Shaw CA, Patel A, Bacino C, Sutton VR, Belmont J, Cheung SW. Low-level mosaicism of trisomy 14: Phenotypic and molecular characterization. Am. J. Med. Genet. A. 2008 Apr 15. [Epub ahead of print]

Shchelochkov OA, Patel A, Weissenberger GM, Chinault AC, Wiszniewska J, Fernandes PH, Eng C, Kukolich MK, Sutton VR. Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome. Am. J. Med. Genet. A. 2008 Apr 15; 146(8): 1042-8.

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. Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet. Med. 2008 Apr; 10(4): 267-77.

Ou Z, Kang SH, Shaw CA, Carmack CE, White LD, Patel A, Beaudet AL, Cheung SW, Chinault AC. Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses. Genet Med. 2008 Apr; 10(4): 278-89.

January 2008

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. 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am. J. Hum. Genet. 2008 Jan; 82(1): 214-21.

Darilek S, Ward P, Pursley A, Plunkett K, Furman P, Magoulas P, Patel A, Cheung SW, Eng CM. Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives. Genet. Med. 2008 Jan; 10(1): 13-8.

December 2007

Lee JA, Carvalho CMB, Lupski JR. A DNA Replication Mechanism for Generating Nonrecurrent Rearrangments Associated with Genomic Disorders. Cell 2007 Dec 28; 131: 1235–1247.

Patel A, Kang SH, Lennon PA, Li YF, Rao PN, Abruzzo L, Shaw C, Chinault AC, Cheung SW. Validation of a targeted DNA microarray for the clinical evaluation of recurrent abnormalities in chronic lymphocytic leukemia. Am. J. Hematol. 2007 Dec 27; [Epub ahead of print]

Powis Z, Kang SH, Cooper ML, Patel A, Peiffer DA, Hawkins A, Heidenreich R, Gunderson KL, Cheung SW, Erickson RP. Mosaic tetrasomy 12p with triplication of 12p detected by array-based comparative genomic hybridization of peripheral blood DNA. Am. J. Med. Genet. A. 2007 Dec 15; 143(24): 2910-5.

November 2007

Brunetti-Pierri N, Grange DK, Ou Z, Peiffer DA, Peacock SK, Cooper ML, Eng PA, Lalani SR, Chinault AC, Gunderson KL, Craigen WJ, Cheung SW. Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization. Clin. Genet. 2007 Nov; 72(5): 411-9.

October 2007

SHL Kang, A Scheffer, Z Ou, J Li, F Scaglia, J Belmont, SR Lalani, E Roeder, V Enciso, S Braddock, J Buchholz, S Vacha, AC Chinault, SW Cheung, CA Bacino (2007). Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome. Clin. Genet. Oct. 72(4): 329–338.

September 2007

Simovich MJ, Yatsenko SA, Kang SH, Cheung SW, Dudek ME, Pursley A, Ward PA, Patel A, Lupski JR. Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation. Prenat Diagn. 2007 Sep 12; [Epub ahead of print]

July 2007

Cheung SW, Shaw CA, Scott DA, Patel A, Sahoo T, Bacino CA, Pursley A, Li J, Erickson R, Gropman AL, Miller DT, Seashore MR, Summers AM, Stankiewicz P, Chinault AC, Lupski JR, Beaudet AL, Sutton VR. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am. J. Med. Genet. A. 2007 Jul 2; [Epub ahead of print].

Berg JS, Pierri NB, 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. Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genet. Med. 2007 Jul; [Epub ahead of print].

Lupski JR. Genomic rearrangements and sporadic disease. Nat. Genet. 2007 July; 39: s43-s47.

June 2007

Probst FJ, Roeder ER, Enciso VB, Ou Z, Cooper ML, Eng P, Li J, Gu Y, Stratton RF, Chinault AC, Shaw CA, Sutton VR, Cheung SW, Nelson DL (2007). Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. Am. J. Med. Genet. A. 2007 Jun 15; 143A(12): 1358-65.

Stankiewicz P, Beaudet AL. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr. Opin. Genet. Dev. 2007 Jun; 17(3): 182-92.

May 2007

Sahoo T, Bacino CA, German JR, Shaw CA, Bird LM, Kimonis V, Anselm I, Waisbren S, Beaudet AL, Peters SU. Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations. Eur. J. Hum. Genet. 2007 May 23

Smyk M, Berg JS, Pursley A, Curtis FK, Fernandez BA, Bien-Willner GA, Lupski JR, Cheung SW, Stankiewicz P. Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1). Hum. Genet. 2007 May 15

Beaudet AL. Autism: highly heritable but not inherited. Nat. Med. 2007 May; 13(5): 534-6.

April 2007

Lennon PA, Cooper ML, Peiffer DA, Gunderson KL, Patel A, Peters S, Cheung SW, Bacino CA. Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: Clinical report and review. Am. J. Med. Genet. A. 2007 Apr 15; 143(8): 791-8.

Smyk M, Obersztyn E, Nowakowska B, Bocian E, Cheung SW, Mazurczak T, Stankiewicz P. Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father. Am. J. Med. Genet. A. 2007 Apr 15; 143(8): 866-70.

March 2007

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. Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS ONE. 2007 Mar 28; 2: e327.

December 2006

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. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet. Med. 2006 Dec; 8(12): 784-92.

November 2006

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. Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genet. Med. 2006 Nov; 8(11): 719-27.

September 2006

Lennon PA, Boerkoel CF, Plunkett K, Soukam S, Cheung SW, Patel A. A novel 8.5 MB dup(1)(p34.1p34.3) characterized by FISH in a child presenting with congenital heart defect and dysmorphic features. Am. J. Med. Genet. A. 2006 Sep 1; 140(17): 1864-70.

Ou Z, Jarmuz M, Sparagana SP, Michaud J, Decarie JC, Yatsenko SA, Nowakowska B, Furman P, Shaw CA, Shaffer LG, Lupski JR, Chinault AC, Cheung SW, Stankiewicz P. Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations. Hum. Genet. 2006 Sep; 120(2): 227-37.

Peiffer DA, Le JM, Steemers FJ, Chang W, Jenniges T, Garcia F, Haden K, Li J, Shaw CA, Belmont J, Cheung SW, Shen RM, Barker DL, Gunderson KL (2006). High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. Genome Res. 2006 Sep; 16(9): 1136-48.

July 2006

Lee JA, Inoue K, Cheung SW, Shaw CA, Stankiewicz P, Lupski JR. Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease. Hum. Mol. Genet. 2006 Jul 15; 15(14): 2250-65.

June 2006

Lennon PA, Scott DA, Lonsdorf D, Wargowski DS, Kirkpatrick S, Patel A, Cheung SW. WAGR(O?) syndrome and congenital ptosis caused by an unbalanced t(11;15)(p13;p11.2)dn demonstrating a 7 megabase deletion by FISH. Am. J. Med. Genet. A. 2006 Jun 1; 140(11): 1214-8.

Lennon PA, Cooper ML, Curtis MA, Lim C, Ou Z, Patel A, Cheung SW, Bacino CA. 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. Am. J. Med. Genet. A. 2006 Jun 1; 140(11): 1156-63.

April 2006

Van den Veyver IB, Beaudet AL. Comparative genomic hybridization and prenatal diagnosis. Curr. Opin. Obstet. Gynecol. 2006 Apr; 18(2): 185-91.

December 2005

Lee JA, Cheung SW, Ward PA, Inoue K, Lupski JR. Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization. Prenat Diagn. 2005 Dec;25(13):1188-91.

November 2005

Roa BB, Pulliam J, Eng CM, Cheung SW. Evolution of prenatal genetics: from point mutation testing to chromosomal microarray analysis. Expert. Rev. Mol. Diagn. 2005 Nov; 5(6): 883-92.

August 2005

Hwang KS, Pearson MA, Stankiewicz P, Lennon PA, Cooper ML, Wu J, Ou Z, Cai WW, Patel A, Cheung SW. Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic features. Am. J. Med. Genet. A. 2005 Aug 15; 137(1): 88-93.

May 2005

Scott DA, Cooper ML, Stankiewicz P, Patel A, Potocki L, Cheung SW. Congenital diaphragmatic hernia in WAGR syndrome. Am. J. Med. Genet A. 2005 May 1; 134(4): 430-3.