Human imprinted chromosomal regions are historical hot-spots of recombination.

by Ionel Sandovici, Sacha Kassovska-Bratinova, Joe E Vaughan, Rae Stewart, Mark Leppert, Carmen Sapienza
Published 2006-07-01

Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population.

by Nori Matsunami, Dexter Hadley, Charles H Hensel, G Bryce Christensen, Cecilia Kim, Edward Frackelton, Kelly Thomas, Renata Pellegrino da Silva, Jeff Stevens, Lisa Baird, Brith Otterud, Karen Ho, Tena Varvil, Tami Leppert, Christophe G Lambert, Mark Leppert, Hakon Hakonarson
Published 2013-01-01

Demonstration of Protein-Based Human Identification Using the Hair Shaft Proteome.

by Glendon J Parker, Tami Leppert, Deon S Anex, Jonathan K Hilmer, Nori Matsunami, Lisa Baird, Jeffery Stevens, Krishna Parsawar, Blythe P Durbin-Johnson, David M Rocke, Chad Nelson, Daniel J Fairbanks, Andrew S Wilson, Robert H Rice, Scott R Woodward, Brian Bothner, Bradley R Hart, Mark Leppert
Published 2016-01-01

A systematic mapping approach of 16q12.2/FTO and BMI in more than 20,000 African Americans narrows in on the underlying functional variation: results from the Population Architectu...

by Ulrike Peters, Kari E North, Praveen Sethupathy, Steve Buyske, Jeff Haessler, Shuo Jiao, Megan D Fesinmeyer, Rebecca D Jackson, Lew H Kuller, Aleksandar Rajkovic, Unhee Lim, Iona Cheng, Fred Schumacher, Lynne Wilkens, Rongling Li, Keri Monda, Georg Ehret, Khanh-Dung H Nguyen, Richard Cooper, Cora E Lewis, Mark Leppert, Marguerite R Irvin, C Charles Gu, Denise Houston, Petra Buzkova, Marylyn Ritchie, Tara C Matise, Loic Le Marchand, Lucia A Hindorff, Dana C Crawford, Christopher A Haiman, Charles Kooperberg
Published 2013-01-01

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

by Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, Jessica Cannavino, Matthew F. Rose, Nicole M. Gilette, Pietro Artoni, Nara Lygia de Macena Sobreira, Wai-Man Chan, Bryn D. Webb, Caroline D. Robson, Long Cheng, Carol Van Ryzin, Andres Ramirez-Martinez, Payam Mohassel, Mark Leppert, Mary Beth Scholand, Christopher Grunseich, Carlos R. Ferreira, Tyler Hartman, Ian M. Hayes, Tim Morgan, David M. Markie, Michela Fagiolini, Amy Swift, Peter S. Chines, Carlos E. Speck-Martins, Francis S. Collins, Ethylin Wang Jabs, Carsten G. Bönnemann, Eric N. Olson, Moebius Syndrome Research Consortium, John C. Carey, Stephen P. Robertson, Irini Manoli, Elizabeth C. Engle
Published 2017-07-01