Genomic analysis using high density SNP based oligonucleotide arrays and MLPA provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors

由 Jackson, Eric M., Sievert, Angela J., Gai, Xiaowu, Hakonarson, Hakon, Judkins, Alexander R, Tooke, Laura, Perin, Juan Carlos, Xie, Hongbo, Shaikh, Tamim H., Biegel, Jaclyn A.
出版 2009

A 3.1 Mb Microdeletion of 3p21.31 Associated with Cortical Blindness, Cleft Lip, CNS Abnormalities, and Developmental Delay

由 Haldeman-Englert, Chad R., Gai, Xiaowu, Perin, Juan Carlos, Ciano, Melissa, Halbach, Sara S., Geiger, Elizabeth A., McDonald-McGinn, Donna M., Hakonarson, Hakon, Zackai, Elaine H., Shaikh, Tamim H.
發表在 Eur J Med Genet (2008)

Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogramming

由 Picard, Martin, Zhang, Jiangwen, Hancock, Saege, Derbeneva, Olga, Golhar, Ryan, Golik, Pawel, O’Hearn, Sean, Levy, Shawn, Potluri, Prasanth, Lvova, Maria, Davila, Antonio, Lin, Chun Shi, Perin, Juan Carlos, Rappaport, Eric F., Hakonarson, Hakon, Trounce, Ian A., Procaccio, Vincent, Wallace, Douglas C.
出版 2014