Correction: ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13.

by Yihan Zhang, Haigen Huang, Gexin Zhao, Tadafumi Yokoyama, Hugo Vega, Yan Huang, Raman Sood, Kevin Bishop, Valerie Maduro, John Accardi, Camilo Toro, Cornelius F Boerkoel, Karen Lyons, William A Gahl, Xiaohong Duan, May Christine V Malicdan, Shuo Lin
Published 2017-02-01

ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13.

by Yihan Zhang, Haigen Huang, Gexin Zhao, Tadafumi Yokoyama, Hugo Vega, Yan Huang, Raman Sood, Kevin Bishop, Valerie Maduro, John Accardi, Camilo Toro, Cornelius F Boerkoel, Karen Lyons, William A Gahl, Xiaohong Duan, May Christine V Malicdan, Shuo Lin
Published 2017-02-01

A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo.

by Anthony Antonellis, Megan Y Dennis, Grzegorz Burzynski, Jimmy Huynh, Valerie Maduro, Chani J Hodonsky, Mehrdad Khajavi, Kinga Szigeti, Sandeep Mukkamala, Seneca L Bessling, William J Pavan, Andrew S McCallion, James R Lupski, Eric D Green, NISC Comparative Sequencing Program
Published 2010-12-01

Distributed cognition and process management enabling individualized translational research: The NIH Undiagnosed Diseases Program experience

by Amanda E Links, David Draper, Elizabeth Lee, Jessica Guzman, Zaheer Valivullah, Valerie Maduro, Vlad Lebedev, Maxim Didenko, Garrick Tomlin, Michael Brudno, Marta Girdea, Sergiu Dumitriu, Andrew M Arnold, Bert Coessens, Steven Verhoeven, William Bone, David Adams, Cornelius F Boerkoel, William A Gahl, Murat Sincan
Published 2016-10-01

Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience

by Timothy Gall, Timothy Gall, Elise Valkanas, Christofer Bello, Thomas Markello, Christopher Adams, William P. Bone, Alexander J. Brandt, Jennifer M. Brazill, Lynn Carmichael, Mariska Davids, Joie Davis, Zoraida Diaz-Perez, David Draper, David Draper, Jeremy Elson, Elise D. Flynn, Rena Godfrey, Catherine Groden, Cheng-Kang Hsieh, Roxanne Fischer, Gretchen A. Golas, Jessica Guzman, Yan Huang, Megan S. Kane, Elizabeth Lee, Chong Li, Amanda E. Links, Valerie Maduro, May Christine V. Malicdan, Fayeza S. Malik, Michele Nehrebecky, Joun Park, Paul Pemberton, Katherine Schaffer, Dimitre Simeonov, Murat Sincan, Damian Smedley, Zaheer Valivullah, Colleen Wahl, Nicole Washington, Lynne A. Wolfe, Lynne A. Wolfe, Karen Xu, Yi Zhu, William A. Gahl, William A. Gahl, Cynthia J. Tifft, Cynthia J. Tifft, Camillo Toro, David R. Adams, David R. Adams, Miao He, Miao He, Peter N. Robinson, Melissa A. Haendel, R. Grace Zhai, Cornelius F. Boerkoel
Published 2017-05-01