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

Por 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.
Publicado em 2009

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

Por 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.
Publicado no Eur J Med Genet (2008)

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

Por 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.
Publicado em 2014