A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia

by Simran Madan, Wei Liu, James T. Lu, V. Reid Sutton, Bryant Toth, Priscilla Joe, John R. Waterson, Richard A. Gibbs, Ignatia B. Van den Veyver, Edward J. Lammer, Philippe M. Campeau, Brendan H. Lee
Published 2017-09-01

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

by 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
Published 2011-01-01

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

by 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
Published 2016-04-01