Search Results - "Salisbury, Benjamin A."

The SLCO1B15 Genetic Variant Is Associated With Statin-Induced Side Effects by Voora, Deepak, MD, Shah, Svati H., MD, MHS, Spasojevic, Ivan, PhD, Ali, Shazia, PharmD, Reed, Carol R., MD, Salisbury, Benjamin A., PhD, Ginsburg, Geoffrey S., MD, PhD

“…Objectives We sought to identify single nucleotide polymorphisms associated with mild statin-induced side effects. Background Statin-induced side effects can…”
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Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION® long QT syndrome genetic test by Kapplinger, Jamie D., BA, Tester, David J., BS, Salisbury, Benjamin A., PhD, Carr, Janet L., PhD, Harris-Kerr, Carole, PhD, Pollevick, Guido D., PhD, Wilde, Arthur A.M., MD, PhD, Ackerman, Michael J., MD, PhD

“…Background Long QT syndrome (LQTS) is a potentially lethal, highly treatable cardiac channelopathy for which genetic testing has matured from discovery to…”
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Deconstructing the relationship between genetics and race by Bamshad, Michael, Wooding, Stephen, Salisbury, Benjamin A, Stephens, J. Claiborne

“…The success of many strategies for finding genetic variants that underlie complex traits depends on how genetic variation is distributed among human…”
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Prevalence of early-onset atrial fibrillation in congenital long QT syndrome by Johnson, Jonathan N., MD, Tester, David J., BS, Perry, James, MD, FHRS, Salisbury, Benjamin A., PhD, Reed, Carol R., MD, Ackerman, Michael J., MD, PhD

“…Background The prevalence of atrial fibrillation (AF) in the young (age <50 years) is 0.1%, or 1:1,000 persons. Mutations in KCNQ1-, KCNH2-, and KCNA5-encoded…”
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Computational pharmacogenotype extraction from clinical next-generation sequencing by Shugg, Tyler, Ly, Reynold C, Osei, Wilberforce, Rowe, Elizabeth J, Granfield, Caitlin A, Lynnes, Ty C, Medeiros, Elizabeth B, Hodge, Jennelle C, Breman, Amy M, Schneider, Bryan P, Sahinalp, S Cenk, Numanagić, Ibrahim, Salisbury, Benjamin A, Bray, Steven M, Ratcliff, Ryan, Skaar, Todd C

“…Next-generation sequencing (NGS), including whole genome sequencing (WGS) and whole exome sequencing (WES), is increasingly being used for clinic care. While…”
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Retention, Fasting Patterns, and Weight Loss With an Intermittent Fasting App: Large-Scale, 52-Week Observational Study by Torres, Luisa, Lee, Joy L, Park, Seho, Di Lorenzo, R Christian, Branam, Jonathan P, Fraser, Shelagh A, Salisbury, Benjamin A

“…Background: Intermittent fasting (IF) is an increasingly popular approach to dietary control that focuses on the timing of eating rather than the quantity and…”
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The Use of Non-Variant Sites to Improve the Clinical Assessment of Whole-Genome Sequence Data by Ferrarini, Alberto, Xumerle, Luciano, Griggio, Francesca, Garonzi, Marianna, Cantaloni, Chiara, Centomo, Cesare, Vargas, Sergio Marin, Descombes, Patrick, Marquis, Julien, Collino, Sebastiano, Franceschi, Claudio, Garagnani, Paolo, Salisbury, Benjamin A, Harvey, John Max, Delledonne, Massimo

“…Genetic testing, which is now a routine part of clinical practice and disease management protocols, is often based on the assessment of small panels of…”
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A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM) by Romero, Roberto, MD, Friel, Lara A., MD, PhD, Velez Edwards, Digna R., PhD, Kusanovic, Juan Pedro, MD, Hassan, Sonia S., MD, Mazaki-Tovi, Shali, MD, Vaisbuch, Edi, MD, Kim, Chong Jai, MD, Erez, Offer, MD, Chaiworapongsa, Tinnakorn, MD, Pearce, Brad D., PhD, Bartlett, Jacquelaine, MS, Salisbury, Benjamin A., PhD, Anant, Madan Kumar, PhD, Vovis, Gerald F., PhD, Lee, Min Seob, PhD, Gomez, Ricardo, MD, Behnke, Ernesto, MD, Oyarzun, Enrique, MD, Tromp, Gerard, PhD, Williams, Scott M., PhD, Menon, Ramkumar, PhD

“…Objective We sought to determine whether maternal/fetal single-nucleotide polymorphisms (SNPs) in candidate genes are associated with preterm prelabor rupture…”
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Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes by Romero, Roberto, MD, Velez Edwards, Digna R., PhD, Kusanovic, Juan Pedro, MD, Hassan, Sonia S., MD, Mazaki-Tovi, Shali, MD, Vaisbuch, Edi, MD, Kim, Chong Jai, MD, Chaiworapongsa, Tinnakorn, MD, Pearce, Brad D., PhD, Friel, Lara A., MD, PhD, Bartlett, Jacquelaine, MS, Anant, Madan Kumar, PhD, Salisbury, Benjamin A., PhD, Vovis, Gerald F., PhD, Lee, Min Seob, PhD, Gomez, Ricardo, MD, Behnke, Ernesto, MD, Oyarzun, Enrique, MD, Tromp, Gerard, PhD, Williams, Scott M., PhD, Menon, Ramkumar, PhD

“…Objective The purpose of this study was to determine whether maternal/fetal single nucleotide polymorphisms (SNPs) in candidate genes are associated with…”
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Enhancing the Predictive Power of Mutations in the C-Terminus of the KCNQ1-Encoded Kv7.1 Voltage-Gated Potassium Channel by Kapplinger, Jamie D., Tseng, Andrew S., Salisbury, Benjamin A., Tester, David J., Callis, Thomas E., Alders, Marielle, Wilde, Arthur A. M., Ackerman, Michael J.

“…Despite the overrepresentation of Kv7.1 mutations among patients with a robust diagnosis of long QT syndrome (LQTS), a background rate of innocuous Kv7.1…”
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The Structure of Common Genetic Variation in United States Populations by Guthery, Stephen L., Salisbury, Benjamin A., Pungliya, Manish S., Stephens, J. Claiborne, Bamshad, Michael

“…The common-variant/common-disease model predicts that most risk alleles underlying complex health-related traits are common and, therefore, old and found in…”
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Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation by Tester, David J., BS, Valdivia, Carmen, MD, Harris-Kerr, Carole, PhD, Alders, Marielle, PhD, Salisbury, Benjamin A., PhD, Wilde, Arthur A.M., MD, PhD, Makielski, Jonathan C., MD, Ackerman, Michael J., MD, PhD

“…Background Considering that approximately 2% of Caucasian controls host rare, nonsynonymous variants in the SCN5A- encoded cardiac sodium channel, caution must…”
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Genetic Testing for Long-QT Syndrome: Distinguishing Pathogenic Mutations From Benign Variants by KAPA, Suraj, TESTER, David J, SALISBURY, Benjamin A, HARRIS-KERR, Carole, PUNGLIYA, Manish S, ALDERS, Marielle, WILDE, Arthur A. M, ACKERMAN, Michael J

“…Genetic testing for long-QT syndrome (LQTS) has diagnostic, prognostic, and therapeutic implications. Hundreds of causative mutations in 12 known…”
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Analytical Validation of a Computational Method for Pharmacogenetic Genotyping from Clinical Whole Exome Sequencing by Ly, Reynold C., Shugg, Tyler, Ratcliff, Ryan, Osei, Wilberforce, Lynnes, Ty C., Pratt, Victoria M., Schneider, Bryan P., Radovich, Milan, Bray, Steven M., Salisbury, Benjamin A., Parikh, Baiju, Sahinalp, S. Cenk, Numanagić, Ibrahim, Skaar, Todd C.

“…Germline whole exome sequencing from molecular tumor boards has the potential to be repurposed to support clinical pharmacogenomics. However, accurately…”
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Candidate Gene Analysis Identifies a Polymorphism in HLA-DQB1 Associated With Clozapine-Induced Agranulocytosis by ATHANASIOU, Maria C, DETTLING, Michael, GERSON, Stanton L, KANE, John M, REED, Carol R, CASCORBI, Ingolf, MOSYAGIN, Igor, SALISBURY, Benjamin A, PIERZ, Kerri A, WEI ZOU, WHALEN, Heidi, MALHOTRA, Anil K, LENCZ, Todd

“…Clozapine is considered to be the most efficacious drug to treat schizophrenia, although it is underutilized, partially due to a side effect of…”
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Expression of a Common LQT1 Mutation in Five Apparently Unrelated Families in a Regional Inherited Arrhythmia Clinic by GRAY, CHRISTOPHER, GULA, LORNE J., KLEIN, GEORGE J., SKANES, ALLAN C., YEE, RAYMOND, SY, RAYMOND, SALISBURY, BENJAMIN A., WONG, JORGE, CHATTHA, ISHVINDER, SUBBIAH, RAJESH N., KRAHN, ANDREW D.

“…Expression of a Common LQT1 Mutation. Background: The Inherited Arrhythmia Clinic at the University of Western Ontario services a catchment area of 1.5 million…”
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Pharmacogenetic Predictors of Statin-Mediated Low-Density Lipoprotein Cholesterol Reduction and Dose Response by Voora, Deepak, Shah, Svati H, Reed, Carol R, Zhai, Jun, Crosslin, David R, Messer, Chad, Salisbury, Benjamin A, Ginsburg, Geoffrey S

“…Pharmacogenetic Predictors of Statin-Mediated Low-Density Lipoprotein Cholesterol Reduction and Dose Response Deepak Voora, MD ; Svati H. Shah, MD, MHS ; Carol…”
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Distinguishing Hypertrophic Cardiomyopathy-Associated Mutations from Background Genetic Noise by Kapplinger, Jamie D., Landstrom, Andrew P., Bos, J. Martijn, Salisbury, Benjamin A., Callis, Thomas E., Ackerman, Michael J.

“…Despite the significant progress that has been made in identifying disease-associated mutations, the utility of the hypertrophic cardiomyopathy (HCM) genetic…”
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Phylogenetic and Physicochemical Analyses Enhance the Classification of Rare Nonsynonymous Single Nucleotide Variants in Type 1 and 2 Long-QT Syndrome by Giudicessi, John R, Kapplinger, Jamie D, Tester, David J, Alders, Marielle, Salisbury, Benjamin A, Wilde, Arthur A.M, Ackerman, Michael J

“…BACKGROUND—Hundreds of nonsynonymous single nucleotide variants (nsSNVs) have been identified in the 2 most common long-QT syndrome-susceptibility genes (KCNQ1…”
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Candidate-gene association study of mothers with pre-eclampsia, and their infants, analyzing 775 SNPs in 190 genes by Goddard, Katrina A B, Tromp, Gerard, Romero, Roberto, Olson, Jane M, Lu, Qing, Xu, Zhiying, Parimi, Neeta, Nien, Jyh Kae, Gomez, Ricardo, Behnke, Ernesto, Solari, Margarita, Espinoza, Jimmy, Santolaya, Joaquin, Chaiworapongsa, Tinnakorn, Lenk, Guy M, Volkenant, Kimberly, Anant, Madan Kumar, Salisbury, Benjamin A, Carr, Janet, Lee, Min Soeb, Vovis, Gerald F, Kuivaniemi, Helena

“…Pre-eclampsia (PE) affects 5-7% of pregnancies in the US, and is a leading cause of maternal death and perinatal morbidity and mortality worldwide. To identify…”
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