Whole genome sequencing of an African American family highlights toll like receptor 6 variants in Kawasaki disease susceptibility. by Jihoon Kim, Chisato Shimizu, Stephen F Kingsmore, Stephen F Kingsmore, Narayanan Veeraraghavan, Eric Levy, Andre M Ribeiro Dos Santos, Hai Yang, Jay Flatley, Long Truong Hoang, Martin L Hibberd, Adriana H Tremoulet, Olivier Harismendy, Lucila Ohno-Machado, Jane C Burns

Get full text

MPSE identifies newborns for whole genome sequencing within 48 h of NICU admission by Bennet Peterson, Edwin F. Juarez, Barry Moore, Edgar Javier Hernandez, Erwin Frise, Jianrong Li, Yves Lussier, Martin Tristani-Firouzi, Martin G. Reese, Sabrina Malone Jenkins, Stephen F. Kingsmore, Matthew N. Bainbridge, Mark Yandell

Get full text

Clinical characterization of Collagen XII‐related disease caused by biallelic COL12A1 variants by Riley M. McCarty, Dimah Saade, Pinki Munot, Chamindra G. Laverty, Hailey Pinz, Yaqun Zou, Meghan McAnally, Pomi Yun, Cuixia Tian, Ying Hu, Lucy Feng, Rahul Phadke, Sophia Ceulemans, Pilar Magoulas, Andrew J. Skalsky, Jennifer R. Friedman, Stephen R. Braddock, Sarah B. Neuhaus, Denise M. Malicki, Matthew N. Bainbridge, Shareef Nahas, David P. Dimmock, Stephen F. Kingsmore, Timothy E. Lotze, A. Reghan Foley, Francesco Muntoni, Volker Straub, Sandra Donkervoort, Carsten G. Bönnemann

Get full text