S.W. Cheung

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Marwan Shinawi, P. Liu, Sung Hae L. Kang et al. · Journal of Medical Genetics · 2009 · 593 citations

Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

Ian M. Campbell, Bo Yuan, Caroline Robberecht et al. · The American Journal of Human Genetics · 2014 · 278 citations · Full text

Down Syndrome, Influences Recurrence Risk, Developmental Biology +8

Microdeletions including <i>YWHAE</i> in the Miller–Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment

Sandesh C. Sreenath Nagamani, Feng Zhang, O A Shchelochkov et al. · Journal of Medical Genetics · 2009 · 168 citations

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

Joanna Wiszniewska, Weimin Bi, Chad A. Shaw et al. · European Journal of Human Genetics · 2013 · 128 citations · Full text

Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia

Margaret Wat, Danielle Veenma, Jacob S. Hogue et al. · Journal of Medical Genetics · 2011 · 91 citations · Full text