A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysis.

por Nicholas J Marini, Thomas J Hoffmann, Edward J Lammer, Jill Hardin, Katherine Lazaruk, Jason B Stein, Dennis A Gilbert, Crystal Wright, Anna Lipzen, Len A Pennacchio, Suzan L Carmichael, John S Witte, Gary M Shaw, Jasper Rine
Publicado 2011-01-01

De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.

por James R Priest, Kazutoyo Osoegawa, Nebil Mohammed, Vivek Nanda, Ramendra Kundu, Kathleen Schultz, Edward J Lammer, Santhosh Girirajan, Todd Scheetz, Daryl Waggott, Francois Haddad, Sushma Reddy, Daniel Bernstein, Trudy Burns, Jeffrey D Steimle, Xinan H Yang, Ivan P Moskowitz, Matthew Hurles, Richard P Lifton, Debbie Nickerson, Michael Bamshad, Evan E Eichler, Seema Mital, Val Sheffield, Thomas Quertermous, Bruce D Gelb, Michael Portman, Euan A Ashley
Publicado 2016-04-01