Research Topics
Species | Sau W CheungSummaryAffiliation: Baylor College of Medicine Country: USA Publications
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Detail Information
Publications
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogeneticsSau W Cheung
Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030
Am J Med Genet A 143:1679-86. 2007..This suggests that aCGH may detect somatic chromosomal mosaicism that would be missed by conventional cytogenetics...
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head sizeMarwan Shinawi
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, Texas 77030, USA
J Med Genet 47:332-41. 2010..Deletion and the reciprocal duplication in 16p11.2 were recently associated with autism and developmental delay...
Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 casesLina Shao
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Am J Med Genet A 146:2242-51. 2008..Targeted array-CGH with extended coverage (up to 10 Mb) of subtelomeric regions will enhance the detection of subtelomeric imbalances, especially for submicroscopic imbalances...
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal casesXinyan Lu
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
PLoS ONE 2:e327. 2007..We report our experience with the clinical implementation of this high resolution human genome analysis, referred to as Chromosomal Microarray Analysis (CMA)...
Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysisXin Yan Lu
Baylor College of Medicine, Department of Molecular and Human Genetics, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA
Pediatrics 122:1310-8. 2008..Our aim was to determine the frequency of genomic imbalances in neonates with birth defects by using targeted array-based comparative genomic hybridization, also known as chromosomal microarray analysis...
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)Yong hui Jiang
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas TX 77030, USA
Am J Med Genet A 146:1986-93. 2008..The case report presented illustrates the value of using high-resolution microarray analysis for phenotypically abnormal individuals with apparently balanced chromosomal rearrangements, including inversions...
Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher diseaseJennifer A Lee
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604B, Houston, TX 77030, USA
Hum Mol Genet 15:2250-65. 2006....
Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangementZhishuo Ou
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Am J Med Genet A 146:2480-9. 2008..Interestingly, mutations in SIX1 have been reported in patients with BOR/BOS3. We propose that the increased dosage of SIX1, SIX6, or OTX2 may be responsible for the BOR and OAVS-like features in this family...
Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literatureAmy Breman
Medical Genetics Laboratories, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Prenat Diagn 32:351-61. 2012..To evaluate the results of prenatal chromosomal microarray analysis (CMA) on >1000 fetal samples referred for testing at our institution and to compare these data to published reports...
Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomesZhishuo Ou
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Genome Res 21:33-46. 2011..Furthermore, we provide a computationally determined genome-wide "recurrent translocation map."..
Validation of a targeted DNA microarray for the clinical evaluation of recurrent abnormalities in chronic lymphocytic leukemiaAnkita Patel
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77024, USA
Am J Hematol 83:540-6. 2008..Furthermore, this pilot study clearly shows the robustness, high sensitivity, and high specificity for the targeted CLL microarray analysis as well as the potential for use in routine screening in CLL...
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndromeShay Ben-Shachar
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Am J Hum Genet 82:214-21. 2008..2 between LCR22-4 and LCR22-6, although they share some characteristic features with DGS/VCFS, represent a novel genomic disorder distinct genomically and clinically from the well-known DGS/VCF deletion syndromes...
Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocationsZhishuo Ou
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm T821, Houston, TX 77030, USA
Hum Genet 120:227-37. 2006..Our results support previous observations that the USP6 oncogene, LCRs, and repetitive DNA sequences play a significant role in the origin of constitutional chromosome aberrations and primate genome evolution...
Development and validation of a CGH microarray for clinical cytogenetic diagnosisSau W Cheung
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
Genet Med 7:422-32. 2005..Limitations of CMA include the inability to detect both balanced chromosome changes and low levels of mosaicism...
Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridizationJennifer A Lee
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Prenat Diagn 25:1188-91. 2005..CONCLUSION: aCGH is a reliable alternative method for detection of PLP1 copy number for prenatal diagnosis of Pelizaeus-Merzbacher disease...
Mosaic tetrasomy 12p with triplication of 12p detected by array-based comparative genomic hybridization of peripheral blood DNAZöe Powis
Section of Medical and Molecular Genetics, Department of Pediatrics, University of Arizona, Tucson, Arizona, USA
Am J Med Genet A 143:2910-5. 2007..He was determined to be mosaic for 46,XY,trp(12)(p11.2 --> p13) in cultured skin fibroblasts. His appearance was typical for PKS at 4 months of age...
