Sau Wai Cheung, PhD, MBA

ABMG Certified Clinical Cytogeneticist



Assistant Professor
Molecular and Human Genetics
Baylor College of Medicine
Houston, TX, US

Laboratory Director
Cytogenetics Laboratory
Baylor Genetics


BS from Chinese University Of Hong Kong
01/1966 - Hong Kong, Hong Kong Special Administrative, Hong Kong

PhD from Indiana University
01/1975 - Indianapolis, Indiana, United States
Biochemical Genetics

Post-Doctoral Fellowship at Harvard Medical School
01/1977 - Boston, MA, United States

MBA from Washington University School Of Medicine
01/1994 - St. Louis, MO, United States


Clinical Cytogenetics
American Board of Medical Genetics


• Clinical Cytogenetics
• Preimplantation Genetic Screening
• Chromosomal Microarray Analysis (Clinical utility of aCGH)


• 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. "Somatic Mosaicism Detected by Exon-targeted, High-resolution aCGH in 10,362 Consecutive Cases.." Eur J Hum Genet.. 2014 January 8 Pubmed PMID: 24398791
• 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. "SHANK3 duplication causes a hyperkinetic neuropsychiatric disorder with unique pharmacogenetic properties.." Nature. 2013;503(7474):72-7. Pubmed PMID: 24153177
• 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. "The genetic basis of DOOR/S syndrome: an exome sequencing study.." Lancet Neurol.. 2014 January;13(1):44-58. Pubmed PMID: 24291220
• 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.. "TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.." Am J Hum Genet.. 2013 August 8;93(2):197-210. Pubmed PMID: 23810381
• 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. "Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.." Eur J Hum Genet.. 2014 January;22(1):79-87. Pubmed PMID: 23695279
• 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. "NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.." Genome Res.. 2013 September 9;23(9):1395-409. Pubmed PMID: 23657883
• Liu P, Erez A, Nagamani SC, Dhar SU, Kolodziejska 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, Nort. "Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.." Cell. 2011 September 16;146(6):889-903. Pubmed PMID: 21925314
• 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. "Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.." Genome Res.. 2011 January;21(1):33-46. Pubmed PMID: 21205869
• 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. "Detection of clinically relevant exonic copy-number changes by array CGH.." Hum. Mutat.. 2010 December;31(12):1326-42. Pubmed PMID: 20848651