The Role of Nuclear Bodies in Gene Expression and Disease by Marie Morimoto, Cornelius F. Boerkoel

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Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia by Ayşe İpek Polat, Uluç Yiş, Müge Ayanoğlu, Ayşe Semra Hız, Handan Güleryüz, Tülay Öztürk Atasoy, Cornelius F Boerkoel

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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

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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

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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

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The practice of genomic medicine: A delineation of the process and its governing principles by Julia Handra, Julia Handra, Adrienne Elbert, Adrienne Elbert, Nour Gazzaz, Nour Gazzaz, Nour Gazzaz, Nour Gazzaz, Ashley Moller-Hansen, Ashley Moller-Hansen, Stephanie Hyunh, Stephanie Hyunh, Hyun Kyung Lee, Hyun Kyung Lee, Pierre Boerkoel, Emily Alderman, Emily Alderman, Erin Anderson, Erin Anderson, Lorne Clarke, Lorne Clarke, Sara Hamilton, Sara Hamilton, Ronnalea Hamman, Shevaun Hughes, Simon Ip, Sylvie Langlois, Sylvie Langlois, Mary Lee, Laura Li, Frannie Mackenzie, Millan S. Patel, Millan S. Patel, Leah M. Prentice, Karan Sangha, Karan Sangha, Laura Sato, Kimberly Seath, Kimberly Seath, Margaret Seppelt, Anne Swenerton, Anne Swenerton, Lynn Warnock, Jessica L. Zambonin, Jessica L. Zambonin, Cornelius F. Boerkoel, Cornelius F. Boerkoel, Hui-Lin Chin, Hui-Lin Chin, Hui-Lin Chin, Linlea Armstrong, Linlea Armstrong

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Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment by Marie Morimoto, Vikas Bhambhani, Nour Gazzaz, Mariska Davids, Paalini Sathiyaseelan, Ellen F. Macnamara, Jennifer Lange, Anna Lehman, Patricia M. Zerfas, Jennifer L. Murphy, Maria T. Acosta, Camille Wang, Emily Alderman, Undiagnosed Diseases Network, Sara Reichert, Audrey Thurm, David R. Adams, Wendy J. Introne, Sharon M. Gorski, Cornelius F. Boerkoel, William A. Gahl, Cynthia J. Tifft, May Christine V. Malicdan

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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

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