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Molecular and Human Genetics

Houston, Texas

Department of Molecular and Human Genetics
Department of Molecular and Human Genetics
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Sau Wai Cheung, Ph.D., M.B.A.

Sau Wai Cheung, Ph.D., M.B.A.

Professor of Molecular and Human Genetics

Other Positions

Director, Cytogenetics Laboratory, BCM Medical Genetics Laboratories


B.S., Biology, New Asia College, The Chinese University of Hong Kong, 1966
Ph.D., Biochemical Genetics, Indiana University School of Medicine, 1975
Postdoctoral Fellow and Instructor, Medicine, Harvard Medical School, 1979
M.B.A., Washington University in St. Louis, 1992

Research Interests

The primary focus of my research is to improve and enhance diagnostic precision. A secondary goal is to maximize the possibilities created by the recent gene discoveries using FISH technology (Fluorescent In Situ Hybridization). Diagnostic application of chromosome abnormalities such as prenatal diagnosis of chromosome abnormalities, exclusion of chromosomal mosaicism in amniotic fluid cultures, chromosome mosaicism in Chorionic Villus Sampling, clinical application of FISH technologies, preimplantation genetic diagnosis and recently chromosomal microarray analysis (CMA), all are powerful diagnostic tools that become more vital to the medical community as our diagnostic accuracy improves.

Chromosomal Microarray Analysis

Chromosomal Microarray Analysis

The Medical Genetics Laboratories (MGL) Cytogenetics Laboratory has pioneered the development of FISH testing involving recent gene discoveries through either close collaboration with investigators at Baylor College of Medicine (BCM) or investigators from other institutions, thereby enabling our laboratories the means to better recognize and diagnose genomic abnormalities related to certain chromosome disorders.

We began to offer chromosomal microarray analysis using BAC based comparative genomic hybridization (CGH) in February 2004. The CMA chip includes probes for virtually all known microdeletion/duplication syndromes, pericentromeric and subtelomeric regions, as well probes for some single gene disorders that may occur due to gain or loss of large DNA segments. Probes distributed randomly along all chromosome arms are also included to identify any full trisomies. Therefore, with a single test, CMA will detect almost all of the disorders detected by standard multiple FISH tests and provide a major advance in the diagnosis of patients in which a genetic cause of disability is strongly suspected but not observed by traditional cytogenetic analysis.

Our array coverage has doubled every year in recent years. In June 2009, we launched our 180K array (version 8) allowing the interrogation of not only the entire genome but exon coverage of more than 4000 genes. In the fall of 2010, we launched the 400K array which includes the 180K array with exon coverage and 120K SNP for comprehensive CMA analysis. In the fall of 2011, we will offer Version 9 which interrogates more than 2100 genes with exon coverage plus SNP analysis.

Selected Publications

  1. Pham J, Shaw C, Pursley A, Hixson P, Sampath S, Roney E, Gambin T, Kang SH, Bi W, Lalani S, Bacino C, Lupski JR, Stankiewicz P, Patel A, Cheung SW (2014). Somatic Mosaicism Detected by Exon-targeted, High-resolution aCGH in 10,362 Consecutive Cases. Eur J Hum Genet., in press. PubMed PMID: 24398791
  2. Han K, Holder JL Jr, Schaaf CP, Lu H, Chen H, Kang H, Tang J, Wu Z, Hao S, Cheung SW, Yu P, Sun H, Breman AM, Patel A, Lu HC, Zoghbi HY (2013). SHANK3 duplication causes a hyperkinetic neuropsychiatric disorder with unique pharmacogenetic properties. Nature 503(7474): 72-7. PubMed PMID: 24153177
  3. Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, ...,Wiszniewska J, Cheung SW, Hennekam RC, Gibbs RA, Lee BH, Sisodiya SM (2014). The genetic basis of DOOR/S syndrome: an exome sequencing study. Lancet Neurol. 13(1): 44-58. PubMed PMID: 24291220
  4. Wiszniewski W, Hunter JV, Hanchard NA, Willer JR, Shaw C, Tian Q, Illner A, Wang X, Cheung SW, Patel A, ..., Maletic-Savatic M, Rosenfeld JA, Shaffer LG, Davis EE, Belmont JW, Dunstan S, Simmons CP, Bonnen PE, Leal SM, Katsanis N, Lupski JR, Lalani SR (2013). TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet. 93(2): 197-210. PubMed PMID: 23810381
  5. Wiszniewska J, Bi W, Shaw C, Stankiewicz P, Kang SH, Pursley AN, Lalani S, Hixson P, Gambin T, Tsai CH, Bock HG, Descartes M, Probst FJ, Scaglia F, Beaudet AL, Lupski JR, Eng C, Sau Wai Cheung , Bacino C, Patel A (2014). Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing. Eur J Hum Genet. 22(1): 79-87. PubMed PMID: 23695279
  6. Dittwald P, Gambin T, Szafranski P, Li J, Amato S, ..., Rosenfeld JA, Agadi S, Francis D, Kang SH, Breman A, Lalani SR, Bacino CA, Bi W, Milosavljevic A, Beaudet AL, Patel A, Shaw CA, Lupski JR, Gambin A, Cheung SW, Stankiewicz P (2013). NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res. 23(9): 1395-409. PubMed PMID: 23657883
  7. Liu P, Erez A, Nagamani SC, Dhar SU, Kołodziejska KE, Dharmadhikari AV, Cooper ML, Wiszniewska J, Zhang F, Withers MA, Bacino CA, Campos-Acevedo LD, Delgado MR, Freedenberg D, Garnica A, Grebe TA, Hernández-Almaguer D, Immken L, Lalani SR, McLean SD, Northrup H, Scaglia F, Strathearn L, Trapane P, Kang SH, Patel A, Cheung SW, Hastings PJ, Stankiewicz P, Lupski JR, Bi W (2011). Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell 146(6): 889-903. PubMed PMID: 21925314
  8. Ou Z, Stankiewicz P, Xia Z, Breman AM, Dawson B, Wiszniewska J, Szafranski P, Cooper ML, Rao M, Shao L, South ST, Coleman K, Fernhoff PM, Deray MJ, Rosengren S, Roeder ER, Enciso VB, Chinault AC, Patel A, Kang SH, Shaw CA, Lupski JR, Cheung SW (2011). Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes. Genome Res. 21(1): 33-46. PubMed PMID: 21205869
  9. Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA, del Gaudio D, Xia Z, Simpson-Patel G, Immken LL, Gibson JB, Tsai AC, Bowers JA, Reimschisel TE, Schaaf CP, Potocki L, Scaglia F, Gambin T, Sykulski M, Bartnik M, Derwinska K, Wisniowiecka-Kowalnik B, Lalani SR, Probst FJ, Bi W, Beaudet AL, Patel A, Lupski JR, Cheung SW, Stankiewicz P (2010). Detection of clinically relevant exonic copy-number changes by array CGH. Hum. Mutat. 31(12): 1326-42. PubMed PMID: 20848651

Contact Information

Sau W Cheung, Ph.D., M.B.A.
Director, Cytogenetics Laboratory
Medical Genetics Laboratories
Baylor College of Medicine
One Baylor Plaza, MS NAB 2015
Houston, TX, 77030, U.S.A.

Phone: 713-798-4991
Fax: 713-798-3157

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