Privacy and data management in the era of massively parallel next-generation sequencing

Por Ong, Frank S., Grody, Wayne W., Deignan, Joshua L.
Publicado em 2011

Contrasting Features of Urea Cycle Disorders in Human Patients and Knockout Mouse Models

Por Deignan, Joshua L., Cederbaum, Stephen D., Grody, Wayne W.
Publicado em 2007

Instability of a dinucleotide repeat in the 3′‐untranslated region (UTR) of the microsomal prostaglandin E synthase‐1 (mPGES‐1) gene in microsatellite instability‐high (MSI‐H) colo...

Por Cherukuri, Durga Prasad, Deignan, Joshua L., Das, Kingshuk, Grody, Wayne W., Herschman, Harvey
Publicado no Mol Oncol (2015)

Clinical exome sequencing in neurogenetic and neuropsychiatric disorders

Por Fogel, Brent L., Lee, Hane, Strom, Samuel P., Deignan, Joshua L., Nelson, Stanley F.
Publicado no Ann N Y Acad Sci (2015)

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 no Case Rep Obstet Gynecol (2016)

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 em 2014

Clinical utility of pharmacogenetic biomarkers in cardiovascular therapeutics: a challenge for clinical implementation

Por Ong, Frank S, Deignan, Joshua L, Kuo, Jane Z, Bernstein, Kenneth E, Rotter, Jerome I, Grody, Wayne W, Das, Kingshuk
Publicado em 2012

Deaf Genetic Testing and Psychological Well-Being in Deaf Adults

Por Palmer, Christina G.S., Boudreault, Patrick, Baldwin, Erin E., Fox, Michelle, Deignan, Joshua L., Kobayashi, Yoko, Sininger, Yvonne, Grody, Wayne, Sinsheimer, Janet S.
Publicado em 2013

ACMG clinical laboratory standards for next-generation sequencing

Por Rehm, Heidi L., Bale, Sherri J, Bayrak-Toydemir, Pinar, Berg, Jonathan S, Brown, Kerry K, Deignan, Joshua L, Friez, Michael J, Funke, Birgit H, Hegde, Madhuri R, Lyon, Elaine
Publicado em 2013

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 em 2014

Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia

Por Fogel, Brent L., Lee, Hane, Deignan, Joshua L., Strom, Samuel P., Kantarci, Sibel, Wang, Xizhe, Quintero-Rivera, Fabiola, Vilain, Eric, Grody, Wayne W., Perlman, Susan, Geschwind, Daniel H., Nelson, Stanley F.
Publicado no JAMA Neurol (2014)

The M694V Mutation in Armenian-Americans: A Ten-Year Retrospective Study of MEFV Mutation Testing for Familial Mediterranean Fever at UCLA

Por Ong, Frank S., Vakil, Hana, Xue, Yuan, Kuo, Jane Z., Shah, Kandarp H., Lee, Rand B., Bernstein, Kenneth E., Rimoin, David L., Getzug, Terri, Das, Kingshuk, Deignan, Joshua L., Rotter, Jerome I., Grody, Wayne W.
Publicado em 2012

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 no Front Mol Biosci (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 no J Clin Pathol (2015)

De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

Por Arboleda, Valerie A., Lee, Hane, Dorrani, Naghmeh, Zadeh, Neda, Willis, Mary, Macmurdo, Colleen Forsyth, Manning, Melanie A., Kwan, Andrea, Hudgins, Louanne, Barthelemy, Florian, Miceli, M. Carrie, Quintero-Rivera, Fabiola, Kantarci, Sibel, Strom, Samuel P., Deignan, Joshua L., Grody, Wayne W., Vilain, Eric, Nelson, Stanley F.
Publicado no Am J Hum Genet (2015)

Identification and validation of genes affecting aortic lesions in mice

Por Yang, Xia, Peterson, Larry, Thieringer, Rolf, Deignan, Joshua L., Wang, Xuping, Zhu, Jun, Wang, Susanna, Zhong, Hua, Stepaniants, Serguei, Beaulaurier, John, Wang, I-Ming, Rosa, Ray, Cumiskey, Anne-Marie, Luo, Jane Ming-Juan, Luo, Qi, Shah, Kashmira, Xiao, Jianying, Nickle, David, Plump, Andrew, Schadt, Eric E., Lusis, Aldons J., Lum, Pek Yee
Publicado em 2010

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

Por Lee, Hane, Deignan, Joshua L., Dorrani, Naghmeh, Strom, Samuel P., Kantarci, Sibel, Quintero-Rivera, Fabiola, Das, Kingshuk, Toy, Traci, Harry, Bret, Yourshaw, Michael, Fox, Michelle, Fogel, Brent L., Martinez-Agosto, Julian A., Wong, Derek A., Chang, Vivian Y., Shieh, Perry B., Palmer, Christina G. S., Dipple, Katrina M., Grody, Wayne W., Vilain, Eric, Nelson, Stanley F.
Publicado no JAMA (2014)

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 em 2009

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

Por Ji, Jianling, Lee, Hane, Argiropoulos, Bob, Dorrani, Naghmeh, Mann, John, Martinez-Agosto, Julian A, Gomez-Ospina, Natalia, Gallant, Natalie, Bernstein, Jonathan A, Hudgins, Louanne, Slattery, Leah, Isidor, Bertrand, Le Caignec, Cédric, David, Albert, Obersztyn, Ewa, Wiśniowiecka-Kowalnik, Barbara, Fox, Michelle, Deignan, Joshua L, Vilain, Eric, Hendricks, Emily, Horton Harr, Margaret, Noon, Sarah E, Jackson, Jessi R, Wilkens, Alisha, Mirzaa, Ghayda, Salamon, Noriko, Abramson, Jeff, Zackai, Elaine H, Krantz, Ian, Innes, A Micheil, Nelson, Stanley F, Grody, Wayne W, Quintero-Rivera, Fabiola
Publicado no Eur J Hum Genet (2015)

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 no Genet Med (2016)