Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing

Por Shahmirzadi, Layla, Chao, Elizabeth C., Palmaer, Erika, Parra, Melissa C., Tang, Sha, Gonzalez, Kelly D. Farwell
Publicado em 2014

Somatic microindels in human cancer: the insertions are highly error-prone and derive from nearby but not adjacent sense and antisense templates

Por Scaringe, William A., Li, Kai, Gu, Dongqing, Gonzalez, Kelly D., Chen, Zhenbin, Hill, Kathleen A., Sommer, Steve S.
Publicado em 2008

Evidence for mutation showers

Por Wang, Jicheng, Gonzalez, Kelly D., Scaringe, William A., Tsai, Kimberly, Liu, Ning, Gu, Dongqing, Li, Wenyan, Hill, Kathleen A., Sommer, Steve S.
Publicado em 2007

Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes

Por Farwell Gonzalez, Kelly D., Li, Xiang, Lu, Hsiao-Mei, Lu, Hong, Pellegrino, Joan E., Miller, Ryan T., Zeng, Wenqi, Chao, Elizabeth C.
Publicado no JIMD Rep (2014)

Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis

Por Butterfield, Russell J., Stevenson, Tamara J., Xing, Lingyan, Newcomb, Tara M., Nelson, Benjamin, Zeng, Wenqi, Li, Xiang, Lu, Hsiao-Mei, Lu, Hong, Farwell Gonzalez, Kelly D., Wei, Jia-Perng, Chao, Elizabeth C., Prior, Thomas W., Snyder, Pamela J., Bonkowsky, Joshua L., Swoboda, Kathryn J.
Publicado em 2014