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

ανά Ong, Frank S., Grody, Wayne W., Deignan, Joshua L.
Έκδοση 2011

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

ανά Deignan, Joshua L., Cederbaum, Stephen D., Grody, Wayne W.
Έκδοση 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...

ανά Cherukuri, Durga Prasad, Deignan, Joshua L., Das, Kingshuk, Grody, Wayne W., Herschman, Harvey
Τόπος έκδοσης Mol Oncol (2015)

Clinical exome sequencing in neurogenetic and neuropsychiatric disorders

ανά Fogel, Brent L., Lee, Hane, Strom, Samuel P., Deignan, Joshua L., Nelson, Stanley F.
Τόπος έκδοσης Ann N Y Acad Sci (2015)

Homozygosity for the A431E mutation in PSEN1 presenting with a relatively aggressive phenotype

ανά Parker, John, Mozaffar, Tahseen, Messmore, Ashlynn, Deignan, Joshua L., Kimonis, Virginia E, Ringman, John M.
Τόπος έκδοσης Neurosci Lett (2019)

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

ανά Eno, Celeste C., Barton, Stacey K., Dorrani, Naghmeh, Cederbaum, Stephen D., Deignan, Joshua L., Grody, Wayne W.
Τόπος έκδοσης Mol Genet Genomic Med (2019)

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

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

Points to Consider in the Reevaluation and Reanalysis of Genomic Test Results: A Statement of the American College of Medical Genetics and Genomics (ACMG)

ανά Deignan, Joshua L., Chung, Wendy K., Kearney, Hutton M., Monaghan, Kristin G., Rehder, Catherine W., Chao, Elizabeth C.
Τόπος έκδοσης Genet Med (2019)

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

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

Deaf Genetic Testing and Psychological Well-Being in Deaf Adults

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

CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

ανά Deignan, Joshua L., Astbury, Caroline, Cutting, Garry R., del Gaudio, Daniela, Gregg, Anthony R., Grody, Wayne W., Monaghan, Kristin G., Richards, Sue
Τόπος έκδοσης Genet Med (2020)

ACMG clinical laboratory standards for next-generation sequencing

ανά 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
Έκδοση 2013

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

ανά 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
Έκδοση 2014

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

ανά 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.
Τόπος έκδοσης JAMA Neurol (2014)

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

ανά 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.
Έκδοση 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

ανά 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
Τόπος έκδοσης 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

ανά 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
Τόπος έκδοσης J Clin Pathol (2015)

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

ανά 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.
Τόπος έκδοσης Am J Hum Genet (2015)

Identification and validation of genes affecting aortic lesions in mice

ανά 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
Έκδοση 2010

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

ανά 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.
Τόπος έκδοσης JAMA (2014)