Clinical Exome Reanalysis: Current Practice and Beyond

por Ji, Jianling, Leung, Marco L., Baker, Samuel, Deignan, Joshua L., Santani, Avni
Publicado 2021

Lipoyltransferase 1 Gene Defect Resulting in Fatal Lactic Acidosis in Two Siblings

por Taché, Véronique, Bivina, Liga, White, Sophie, Gregg, Jeffrey, Deignan, Joshua, Boyadjievd, Simeon A., Poulain, Francis R.
Publicado 2016

Confidential genetic testing and electronic health records: A survey of current practices among Huntington disease testing centers

por Eno, Celeste C., Barton, Stacey K., Dorrani, Naghmeh, Cederbaum, Stephen D., Deignan, Joshua L., Grody, Wayne W.
Publicado 2019

Assessing the necessity of confirmatory testing for exome sequencing results in a clinical molecular diagnostic laboratory

por Strom, Samuel P., Lee, Hane, Das, Kingshuk, Vilain, Eric, Nelson, Stanley F., Grody, Wayne W., Deignan, Joshua L.
Publicado 2014

De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing

por Strom, Samuel P, Lozano, Reymundo, Lee, Hane, Dorrani, Naghmeh, Mann, John, O’Lague, Patricia F, Mans, Nicole, Deignan, Joshua L, Vilain, Eric, Nelson, Stanley F, Grody, Wayne W, Quintero-Rivera, Fabiola
Publicado 2014

Effects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder

por Bie, Anne S., Fernandez-Guerra, Paula, Birkler, Rune I. D., Nisemblat, Shahar, Pelnena, Dita, Lu, Xinping, Deignan, Joshua L., Lee, Hane, Dorrani, Naghmeh, Corydon, Thomas J., Palmfeldt, Johan, Bivina, Liga, Azem, Abdussalam, Herman, Kristin, Bross, Peter
Publicado 2016

Variation in pre-PCR processing of FFPE samples leads to discrepancies in BRAF and EGFR mutation detection: a diagnostic RING trial

por Kapp, Joshua R, Diss, Tim, Spicer, James, Gandy, Michael, Schrijver, Iris, Jennings, Lawrence J, Li, Marilyn M, Tsongalis, Gregory J, de Castro, David Gonzalez, Bridge, Julia A, Wallace, Andrew, Deignan, Joshua L, Hing, Sandra, Butler, Rachel, Verghese, Eldo, Latham, Gary J, Hamoudi, Rifat A
Publicado 2015

Validation of Candidate Causal Genes for Abdominal Obesity Which Affect Shared Metabolic Pathways and Networks

por Yang, Xia, Deignan, Joshua L., Qi, Hongxiu, Zhu, Jun, Qian, Su, Zhong, Judy, Torosyan, Gevork, Majid, Sana, Falkard, Brie, Kleinhanz, Robert R., Karlsson, Jenny, Castellani, Lawrence W., Mumick, Sheena, Wang, Kai, Xie, Tao, Coon, Michael, Zhang, Chunsheng, Estrada-Smith, Daria, Farber, Charles R., Wang, Susanna S., Van Nas, Atila, Ghazalpour, Anatole, Zhang, Bin, MacNeil, Douglas J., Lamb, John R., Dipple, Katrina M., Reitman, Marc L., Mehrabian, Margarete, Lum, Pek Y., Schadt, Eric E., Lusis, Aldons J., Drake, Thomas A.
Publicado 2009

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

por O’Daniel, Julianne M., McLaughlin, Heather M., Amendola, Laura M., Bale, Sherri J., Berg, Jonathan S., Bick, David, Bowling, Kevin M., Chao, Elizabeth C., Chung, Wendy K., Conlin, Laura K., Cooper, Gregory M., Das, Soma, Deignan, Joshua L., Dorschner, Michael O., Evans, James P., Ghazani, Arezou A., Goddard, Katrina A., Gornick, Michele, Farwell Hagman, Kelly D., Hambuch, Tina, Hegde, Madhuri, Hindorff, Lucia A., Holm, Ingrid A., Jarvik, Gail P., Johnson, Amy Knight, Mighion, Lindsey, Morra, Massimo, Plon, Sharon E., Punj, Sumit, Richards, C. Sue, Santani, Avni, Shirts, Brian H., Spinner, Nancy B., Tang, Sha, Weck, Karen E., Wolf, Susan M., Yang, Yaping, Rehm, Heidi L.
Publicado 2016