A high-throughput screen of real-time ATP levels in individual cells reveals mechanisms of energy failure.

by Bryce A Mendelsohn, Neal K Bennett, Maxwell A Darch, Katharine Yu, Mai K Nguyen, Daniela Pucciarelli, Maxine Nelson, Max A Horlbeck, Luke A Gilbert, William Hyun, Martin Kampmann, Jean L Nakamura, Ken Nakamura
Published 2018-08-01

Long-term Speech Outcomes of Cleft Palate Repair in Robin Sequence versus Isolated Cleft Palate

by Robrecht J. H. Logjes, MD, Susanna Upton, CCC-SLP, Bryce A. Mendelsohn, MD, PhD, Ryan K. Badiee, BA, BS, Corstiaan C. Breugem, MD, PhD, William Y. Hoffman, MD, Jason H. Pomerantz, MD
Published 2021-01-01

Defining the ATPome reveals cross-optimization of metabolic pathways

by Neal K. Bennett, Mai K. Nguyen, Maxwell A. Darch, Hiroki J. Nakaoka, Derek Cousineau, Johanna ten Hoeve, Thomas G. Graeber, Markus Schuelke, Emin Maltepe, Martin Kampmann, Bryce A. Mendelsohn, Jean L. Nakamura, Ken Nakamura
Published 2020-08-01

Application of full-genome analysis to diagnose rare monogenic disorders

by Joseph T. Shieh, Monica Penon-Portmann, Karen H. Y. Wong, Michal Levy-Sakin, Michelle Verghese, Anne Slavotinek, Renata C. Gallagher, Bryce A. Mendelsohn, Jessica Tenney, Daniah Beleford, Hazel Perry, Stephen K. Chow, Andrew G. Sharo, Steven E. Brenner, Zhongxia Qi, Jingwei Yu, Ophir D. Klein, David Martin, Pui-Yan Kwok, Dario Boffelli
Published 2021-09-01

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

by Eden V. Haverfield, Edward D. Esplin, Sienna J. Aguilar, Kathryn E. Hatchell, Kelly E. Ormond, Andrea Hanson-Kahn, Paldeep S. Atwal, Sarah Macklin-Mantia, Stephanie Hines, Caron W.-M. Sak, Steven Tucker, Steven B. Bleyl, Peter J. Hulick, Ora K. Gordon, Lea Velsher, Jessica Y. J. Gu, Scott M. Weissman, Teresa Kruisselbrink, Christopher Abel, Michele Kettles, Anne Slavotinek, Bryce A. Mendelsohn, Robert C. Green, Swaroop Aradhya, Robert L. Nussbaum
Published 2021-08-01

RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum

by Marisa I. Mendes, Lydia M. C. Green, Enrico Bertini, Davide Tonduti, Chiara Aiello, Desiree Smith, Ettore Salsano, Shanice Beerepoot, Jozef Hertecant, Sarah vonSpiczak, John H. Livingston, Lisa Emrick, Jamie Fraser, Laura Russell, Genevieve Bernard, Stefania Magri, Daniela Di Bella, Franco Taroni, Mary K. Koenig, Isabella Moroni, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Jullie Rhee, Bryce A. Mendelsohn, Ingo Helbig, Katherine Helbig, Hiltrud Muhle, Omar Ismayl, Adeline L. Vanderver, Gajja S. Salomons, Marjo S. van derKnaap, Nicole I. Wolf
Published 2020-01-01