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

Bằng 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.
Được phát hành 2009

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

Bằng 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.
Xuất bản năm Eur J Med Genet (2008)

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

Bằng 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.
Được phát hành 2014