SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals

by B. Monica Bowen, Rebecca Truty, Swaroop Aradhya, Sara L. Bristow, Britt A. Johnson, Ana Morales, Christopher A. Tan, M. Jody Westbrook, Thomas L. Winder, Juan C. Chavez
Published 2021-05-01

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy

by Rebecca Truty, Nila Patil, Raman Sankar, Joseph Sullivan, John Millichap, Gemma Carvill, Ali Entezam, Edward D. Esplin, Amy Fuller, Michelle Hogue, Britt Johnson, Amirah Khouzam, Yuya Kobayashi, Rachel Lewis, Keith Nykamp, Darlene Riethmaier, Jody Westbrook, Michelle Zeman, Robert L. Nussbaum, Swaroop Aradhya
Published 2019-09-01

Sudden Cardiac Death—A New Insight Into Potentially Fatal Genetic Markers

by Dragan Primorac, Dragan Primorac, Dragan Primorac, Dragan Primorac, Dragan Primorac, Dragan Primorac, Dragan Primorac, Dragan Primorac, Dragan Primorac, Ljubica Odak, Ljubica Odak, Vitorio Perić, Jasmina Ćatić, Jasmina Ćatić, Jozica Šikić, Vjekoslav Radeljić, Šime Manola, Robert Nussbaum, Matteo Vatta, Swaroop Aradhya, Tanja Sofrenović, Vid Matišić, Vilim Molnar, Andrea Skelin, Jure Mirat, Johannes Brachmann, Johannes Brachmann
Published 2021-03-01

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