Huang, Shuwen

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Mefford, H. C., Sharp, A. J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V. K., Crolla, J. A., Baralle, D., et al. (2008) · New England Journal of Medicine

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 804

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

Kaminsky, E. B., Kaul, V., Paschall, J., Church, D. M., Bunke, B., Kunig, D., Moreno-De-Luca, D., Moreno-De-Luca, A., Mulle, J. G., Warren, S. T., et al. (2011) · Genetics in Medicine

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 437

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia

Moreno-De-Luca, D., Mulle, J. G., Kaminsky, E. B., Sanders, S. J., Myers, S. M., Adam, M. P., Pakula, A. T., Eisenhauer, N. J., Uhas, K., Weik, L., et al. (2010) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 324

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

Wilson, H. L., Crolla, J. A., Walker, D., Artifoni, L., Dallapiccola, B., Takano, T., Vasudevan, P., Huang, S., Maloney, V., Yobb, T., et al. (2008) · European Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 85

16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2

Barber, J. C. K., Hall, V., Maloney, V. K., Huang, S., Roberts, A. M., Brady, A. F., Foulds, N., Bewes, B., Volleth, M., Liehr, T., et al. (2013) · European Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 74

A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation

Krepischi, A. C. V., Rosenberg, C., Costa, S. S., Crolla, J. A., Huang, S., & Vianna‐Morgante, A. M. (2010) · American Journal of Medical Genetics Part A

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 34