P260: Enhancing copy number variant analysis in exome sequencing with backbone probe optimization by Eli Sward, Hagar Mor-Shaked, Tina Han, Suzanne Drury

Get full text

P254: Genetics of Perrault syndrome in a family with ten affected individuals by Rabia Faridi, Thomas Smith, Leigh M. Demain, Yasuko Ishibashi, Sayaka Inagaki, Huw Thomas, Alessandro Rea, Arshia Maqbool, Isabelle Schrauwen, Khurram Liaqat, Zubair Ahmed, Sondhya Ghedia, Andrew Green, Ruth Sheffer, Hagar Mor-Shaked, Mathilda Wilding, Robin Hay, Saima Riazuddin, Langping He, Glenda Beaman, Wasim Ahmed, Suzanne Leal, Robert Taylor, Raymond O’Keefe, Robert Morell, Alejandro Schaffer, William Newman, Inna Belyantseva, Sheikh Riazuddin, Thomas Friedman

Get full text