Cheung, Sau Wai

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Brunetti-Pierri, N., Berg, J. S., Scaglia, F., Belmont, J., Bacino, C. A., Sahoo, T., Lalani, S. R., Graham, B., Lee, B., Shinawi, M., et al. (2008) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 625

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

Koolen, D. A., Kramer, J. M., Neveling, K., Nillesen, W. M., Moore-Barton, H. L., Elmslie, F. V., Toutain, A., Amiel, J., Malan, V., Tsai, A. C.-H., et al. (2012) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 232

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

Berg, J. S., Brunetti-Pierri, N., Peters, S. U., Kang, S.-H. L., Fong, C.-T., Salamone, J., Freedenberg, D., Hannig, V. L., Prock, L. A., Miller, D. T., et al. (2007) · Genetics in Medicine

Williams Syndrome ResearchGenomic variations and chromosomal abnormalities

Cited by 193

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Pizzo, L., Jensen, M., Polyak, A., Rosenfeld, J. A., Mannik, K., Krishnan, A., McCready, E., Pichon, O., Le Caignec, C., Van Dijck, A., et al. (2019) · Genetics in Medicine

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 193

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

Dhar, S. U., del Gaudio, D., German, J. R., Peters, S. U., Ou, Z., Bader, P. I., Berg, J. S., Blazo, M., Brown, C. W., Graham, B. H., et al. (2010) · American Journal of Medical Genetics Part A

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 138

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

Szafranski, P., Schaaf, C. P., Person, R. E., Gibson, I. B., Xia, Z., Mahadevan, S., Wiszniewska, J., Bacino, C. A., Lalani, S., Potocki, L., et al. (2010) · Human Mutation

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 134

20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits

Lalani, S. R., Thakuria, J. V., Cox, G. F., Wang, X., Bi, W., Bray, M. S., Shaw, C., Cheung, S. W., Chinault, A. C., Boggs, B. A., et al. (2009) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesCardiac Arrhythmias and Treatments

Cited by 108

Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay

Wiśniowiecka‐Kowalnik, B., Nesteruk, M., Peters, S. U., Xia, Z., Cooper, M. L., Savage, S., Amato, R. S., Bader, P., Browning, M. F., Haun, C. L., et al. (2010) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Cited by 82

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.

Boone, P. M., Campbell, I. M., Baggett, B. C., Soens, Z. T., Rao, M. M., Hixson, P. M., Patel, A., Bi, W., Cheung, S. W., Lalani, S. R., et al. (2013) · Genome Research

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 69

Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions

El-Hattab, A. W., Fang, P., Jin, W., Hughes, J. R., Gibson, J. B., Patel, G. S., Grange, D. K., Manwaring, L. P., Patel, A., Stankiewicz, P., et al. (2011) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 59

Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review

El-Hattab, A. W., Schaaf, C. P., Fang, P., Roeder, E., Kimonis, V. E., Church, J. A., Patel, A., & Cheung, S. W. (2015) · BMC Medical Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 53

HERV‐mediated genomic rearrangement of EYA1 in an individual with branchio‐oto‐renal syndrome

Sanchez‐Valle, A., Wang, X., Potocki, L., Xia, Z., Kang, S. L., Carlin, M. E., Michel, D., Williams, P., Cabrera‐Meza, G., Brundage, E. K., et al. (2010) · American Journal of Medical Genetics Part A

Genomic variations and chromosomal abnormalitiesCongenital Ear and Nasal Anomalies

Cited by 43