Whole-genome sequencing in an autism multiplex family

Por Shi, Lingling, Zhang, Xu, Golhar, Ryan, Otieno, Frederick G, He, Mingze, Hou, Cuiping, Kim, Cecilia, Keating, Brendan, Lyon, Gholson J, Wang, Kai, Hakonarson, Hakon
Publicado em 2013

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement

Por Wang, Kai, Kim, Cecilia, Bradfield, Jonathan, Guo, Yunfei, Toskala, Elina, Otieno, Frederick G, Hou, Cuiping, Thomas, Kelly, Cardinale, Christopher, Lyon, Gholson J, Golhar, Ryan, Hakonarson, Hakon
Publicado em 2013

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

Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned

Por Almoguera, Berta, Li, Jiankang, Fernandez-San Jose, Patricia, Liu, Yichuan, March, Michael, Pellegrino, Renata, Golhar, Ryan, Corton, Marta, Blanco-Kelly, Fiona, López-Molina, Maria Isabel, García-Sandoval, Blanca, Guo, Yiran, Tian, Lifeng, Liu, Xuanzhu, Guan, Liping, Zhang, Jianguo, Keating, Brendan, Xu, Xun, Hakonarson, Hakon, Ayuso, Carmen
Publicado no PLoS One (2015)

Increased Frequency of De Novo Copy Number Variations in Congenital Heart Disease by Integrative Analysis of SNP Array and Exome Sequence Data

Por Glessner, Joseph T., Bick, Alexander G., Ito, Kaoru, Homsy, Jason, Rodriguez-Murillo, Laura, Fromer, Menachem, Mazaika, Erica, Vardarajan, Badri, Italia, Michael, Leipzig, Jeremy, DePalma, Steven R., Golhar, Ryan, Sanders, Stephan J., Yamrom, Boris, Ronemus, Michael, Iossifov, Ivan, Willsey, A. Jeremy, State, Matthew W., Kaltman, Jonathan R., White, Peter S., Shen, Yufeng, Warburton, Dorothy, Brueckner, Martina, Seidman, Christine, Goldmuntz, Elizabeth, Gelb, Bruce D., Lifton, Richard, Seidman, Jonathan, Hakonarson, Hakon, Chung, Wendy K.
Publicado em 2014