Search Results - "RELLING, Mary V"

Inherited genetic variation in childhood acute lymphoblastic leukemia by Moriyama, Takaya, Relling, Mary V., Yang, Jun J.

“…Although somatically acquired genomic alterations have long been recognized as the hallmarks of acute lymphoblastic leukemia (ALL), the last decade has shown…”
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Clinical Pharmacogenetics Implementation Consortium Guideline for Thiopurine Dosing Based on TPMT and NUDT15 Genotypes: 2018 Update by Relling, Mary V., Schwab, Matthias, Whirl‐Carrillo, Michelle, Suarez‐Kurtz, Guilherme, Pui, Ching‐Hon, Stein, Charles M., Moyer, Ann M., Evans, William E., Klein, Teri E., Antillon‐Klussmann, Federico Guillermo, Caudle, Kelly E., Kato, Motohiro, Yeoh, Allen E.J., Schmiegelow, Kjeld, Yang, Jun J.

“…Thiopurine methyltransferase (TPMT) activity exhibits a monogenic codominant inheritance and catabolizes thiopurines. TPMT variant alleles are associated with…”
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Childhood Acute Lymphoblastic Leukemia: Progress Through Collaboration by Pui, Ching-Hon, Yang, Jun J, Hunger, Stephen P, Pieters, Rob, Schrappe, Martin, Biondi, Andrea, Vora, Ajay, Baruchel, André, Silverman, Lewis B, Schmiegelow, Kjeld, Escherich, Gabriele, Horibe, Keizo, Benoit, Yves C M, Izraeli, Shai, Yeoh, Allen Eng Juh, Liang, Der-Cherng, Downing, James R, Evans, William E, Relling, Mary V, Mullighan, Charles G

“…To review the impact of collaborative studies on advances in the biology and treatment of acute lymphoblastic leukemia (ALL) in children and adolescents. A…”
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Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC) by Caudle, Kelly E., Dunnenberger, Henry M., Freimuth, Robert R., Peterson, Josh F., Burlison, Jonathan D., Whirl-Carrillo, Michelle, Scott, Stuart A., Rehm, Heidi L., Williams, Marc S., Klein, Teri E., Relling, Mary V., Hoffman, James M.

“…Reporting and sharing pharmacogenetic test results across clinical laboratories and electronic health records is a crucial step toward the implementation of…”
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Standardizing CYP2D6 Genotype to Phenotype Translation: Consensus Recommendations from the Clinical Pharmacogenetics Implementation Consortium and Dutch Pharmacogenetics Working Group by Caudle, Kelly E., Sangkuhl, Katrin, Whirl‐Carrillo, Michelle, Swen, Jesse J., Haidar, Cyrine E., Klein, Teri E., Gammal, Roseann S., Relling, Mary V., Scott, Stuart A., Hertz, Daniel L., Guchelaar, Henk‐Jan, Gaedigk, Andrea

“…Translating CYP2D6 genotype to metabolizer phenotype is not standardized across clinical laboratories offering pharmacogenetic (PGx) testing and PGx clinical…”
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Improved CNS Control of Childhood Acute Lymphoblastic Leukemia Without Cranial Irradiation: St Jude Total Therapy Study 16 by Jeha, Sima, Pei, Deqing, Choi, John, Cheng, Cheng, Sandlund, John T, Coustan-Smith, Elaine, Campana, Dario, Inaba, Hiroto, Rubnitz, Jeffrey E, Ribeiro, Raul C, Gruber, Tanja A, Raimondi, Susana C, Khan, Raja B, Yang, Jun J, Mullighan, Charles G, Downing, James R, Evans, William E, Relling, Mary V, Pui, Ching-Hon

“…Despite contemporary treatment, up to 10% of children with acute lymphoblastic leukemia still experience relapse. We evaluated whether a higher dosage of…”
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Preemptive Clinical Pharmacogenetics Implementation: Current Programs in Five US Medical Centers by Dunnenberger, Henry M, Crews, Kristine R, Hoffman, James M, Caudle, Kelly E, Broeckel, Ulrich, Howard, Scott C, Hunkler, Robert J, Klein, Teri E, Evans, William E, Relling, Mary V

“…Although the field of pharmacogenetics has existed for decades, practioners have been slow to implement pharmacogenetic testing in clinical care. Numerous…”
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NUDT15 polymorphisms alter thiopurine metabolism and hematopoietic toxicity by Moriyama, Takaya, Nishii, Rina, Perez-Andreu, Virginia, Yang, Wenjian, Klussmann, Federico Antillon, Zhao, Xujie, Lin, Ting-Nien, Hoshitsuki, Keito, Nersting, Jacob, Kihira, Kentaro, Hofmann, Ute, Komada, Yoshihiro, Kato, Motohiro, McCorkle, Robert, Li, Lie, Koh, Katsuyoshi, Najera, Cesar Rolando, Kham, Shirley Kow-Yin, Isobe, Tomoya, Chen, Zhiwei, Chiew, Edwynn Kean-Hui, Bhojwani, Deepa, Jeffries, Cynthia, Lu, Yan, Schwab, Matthias, Inaba, Hiroto, Pui, Ching-Hon, Relling, Mary V, Manabe, Atsushi, Hori, Hiroki, Schmiegelow, Kjeld, Yeoh, Allen E J, Evans, William E, Yang, Jun J

“…Jun Yang and colleagues perform targeted sequencing of NUDT15 and identify loss-of-function variants associated with thiopurine intolerance. Functionally, they…”
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Anthracycline-Related Cardiomyopathy After Childhood Cancer: Role of Polymorphisms in Carbonyl Reductase Genes—A Report From the Children's Oncology Group by BLANCO, Javier G, SUN, Can-Lan, NEGLIA, Joseph P, OEFFINGER, Kevin C, KIM RITCHEY, A, VILLALUNA, Doojduen, RELLING, Mary V, BHATIA, Smita, LANDIER, Wendy, LU CHEN, ESPARZA-DURAN, Diego, LEISENRING, Wendy, MAYS, Allison, FRIEDMAN, Debra L, GINSBERG, Jill P, HUDSON, Melissa M

“…Carbonyl reductases (CBRs) catalyze reduction of anthracyclines to cardiotoxic alcohol metabolites. Polymorphisms in CBR1 and CBR3 influence synthesis of these…”
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Methotrexate-Induced Neurotoxicity and Leukoencephalopathy in Childhood Acute Lymphoblastic Leukemia by BHOJWANI, Deepa, SABIN, Noah D, HOWARD, Scott C, RIBEIRO, Raul C, CHENG CHENG, REDDICK, Wilburn E, JEHA, Sima, SANDLUND, John T, EVANS, William E, PUI, Ching-Hon, RELLING, Mary V, DEQING PEI, YANG, Jun J, KHAN, Raja B, PANETTA, John C, KRULL, Kevin R, INABA, Hiroto, RUBNITZ, Jeffrey E, METZGER, Monika L

“…Methotrexate (MTX) can cause significant clinical neurotoxicity and asymptomatic leukoencephalopathy. We sought to identify clinical, pharmacokinetic, and…”
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TP53 Germline Variations Influence the Predisposition and Prognosis of B-Cell Acute Lymphoblastic Leukemia in Children by Qian, Maoxiang, Cao, Xueyuan, Devidas, Meenakshi, Yang, Wenjian, Cheng, Cheng, Dai, Yunfeng, Carroll, Andrew, Heerema, Nyla A, Zhang, Hui, Moriyama, Takaya, Gastier-Foster, Julie M, Xu, Heng, Raetz, Elizabeth, Larsen, Eric, Winick, Naomi, Bowman, W Paul, Martin, Paul L, Mardis, Elaine R, Fulton, Robert, Zambetti, Gerard, Borowitz, Michael, Wood, Brent, Nichols, Kim E, Carroll, William L, Pui, Ching-Hon, Mullighan, Charles G, Evans, William E, Hunger, Stephen P, Relling, Mary V, Loh, Mignon L, Yang, Jun J

“…Purpose Germline TP53 variation is the genetic basis of Li-Fraumeni syndrome, a highly penetrant cancer predisposition condition. Recent reports of germline…”
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Clinical utility of sequential minimal residual disease measurements in the context of risk-based therapy in childhood acute lymphoblastic leukaemia: a prospective study by Pui, Ching-Hon, Prof, Pei, Deqing, MS, Coustan-Smith, Elaine, MS, Jeha, Sima, Prof, Cheng, Cheng, Prof, Bowman, W Paul, MD, Sandlund, John T, Prof, Ribeiro, Raul C, Prof, Rubnitz, Jeffrey E, Prof, Inaba, Hiroto, MD PhD, Bhojwani, Deepa, MD, Gruber, Tanja A, MD PhD, Leung, Wing H, Prof, Downing, James R, Prof, Evans, William E, Prof, Relling, Mary V, Prof, Campana, Dario, Prof

“…Summary Background The level of minimal residual disease during remission induction is the most important prognostic indicator in patients with acute…”
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Postinduction Dexamethasone and Individualized Dosing of Escherichia Coli L-Asparaginase Each Improve Outcome of Children and Adolescents With Newly Diagnosed Acute Lymphoblastic Leukemia: Results From a Randomized Study—Dana-Farber Cancer Institute ALL Consortium Protocol 00-01 by VROOMAN, Lynda M, STEVENSON, Kristen E, LAVERDIERE, Caroline, LIPSHULTZ, Steven E, MICHON, Bruno, SCHORIN, Marshall, RELLING, Mary V, COHEN, Harvey J, NEUBERG, Donna S, SALLAN, Stephen E, SILVERMAN, Lewis B, SUPKO, Jeffrey G, O'BRIEN, Jane, DAHLBERG, Suzanne E, ASSELIN, Barbara L, ATHALE, Uma H, CLAVELL, Luis A, KELLY, Kara M, KUTOK, Jeffery L

“…We assessed the toxicity and efficacy of dexamethasone and a novel dosing method of Escherichia coli L-asparaginase (EC-Asnase) in children and adolescents…”
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Antibodies Predict Pegaspargase Allergic Reactions and Failure of Rechallenge by Liu, Yiwei, Smith, Colton A, Panetta, John C, Yang, Wenjian, Thompson, Lauren E, Counts, Jacob P, Molinelli, Alejandro R, Pei, Deqing, Kornegay, Nancy M, Crews, Kristine R, Swanson, Hope, Cheng, Cheng, Karol, Seth E, Evans, William E, Inaba, Hiroto, Pui, Ching-Hon, Jeha, Sima, Relling, Mary V

“…Pegaspargase (PEG-ASP) has largely replaced native asparaginase (L-ASP) in the treatment of acute lymphoblastic leukemia because of its longer half-life and…”
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PG4KDS: A model for the clinical implementation of pre-emptive pharmacogenetics by Hoffman, James M., Haidar, Cyrine E., Wilkinson, Mark R., Crews, Kristine R., Baker, Donald K., Kornegay, Nancy M., Yang, Wenjian, Pui, Ching-Hon, Reiss, Ulrike M., Gaur, Aditya H., Howard, Scott C., Evans, William E., Broeckel, Ulrich, Relling, Mary V.

“…Pharmacogenetics is frequently cited as an area for initial focus of the clinical implementation of genomics. Through the PG4KDS protocol, St. Jude Children's…”
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Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study by Moriyama, Takaya, MD, Metzger, Monika L, MD, Wu, Gang, PhD, Nishii, Rina, MS, Qian, Maoxiang, PhD, Devidas, Meenakshi, PhD, Yang, Wenjian, PhD, Cheng, Cheng, Prof, Cao, Xueyuan, PhD, Quinn, Emily, MS, Raimondi, Susana, Prof, Gastier-Foster, Julie M, Prof, Raetz, Elizabeth, Prof, Larsen, Eric, MD, Martin, Paul L, MD, Bowman, W Paul, MD, Winick, Naomi, Prof, Komada, Yoshihiro, Prof, Wang, Shuoguo, PhD, Edmonson, Michael, BA, Xu, Heng, PhD, Mardis, Elaine, Prof, Fulton, Robert, MS, Pui, Ching-Hon, Prof, Mullighan, Charles, Prof, Evans, William E, Prof, Zhang, Jinghui, Prof, Hunger, Stephen P, Prof, Relling, Mary V, Prof, Nichols, Kim E, Prof, Loh, Mignon L, Prof, Yang, Jun J, Dr

“…Summary Background Hereditary predisposition is rarely suspected for childhood acute lymphoblastic leukaemia (ALL). Recent reports of germline ETV6 variations…”
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Pharmacotypes across the genomic landscape of pediatric acute lymphoblastic leukemia and impact on treatment response by Lee, Shawn H. R., Yang, Wenjian, Gocho, Yoshihiro, John, August, Rowland, Lauren, Smart, Brandon, Williams, Hannah, Maxwell, Dylan, Hunt, Jeremy, Yang, Wentao, Crews, Kristine R., Roberts, Kathryn G., Jeha, Sima, Cheng, Cheng, Karol, Seth E., Relling, Mary V., Rosner, Gary L., Inaba, Hiroto, Mullighan, Charles G., Pui, Ching-Hon, Evans, William E., Yang, Jun J.

“…Contemporary chemotherapy for childhood acute lymphoblastic leukemia (ALL) is risk-adapted based on clinical features, leukemia genomics and minimal residual…”
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Identification of four novel associations for B-cell acute lymphoblastic leukaemia risk by Vijayakrishnan, Jayaram, Qian, Maoxiang, Studd, James B., Yang, Wenjian, Kinnersley, Ben, Law, Philip J., Broderick, Peter, Raetz, Elizabeth A., Allan, James, Pui, Ching-Hon, Vora, Ajay, Evans, William E., Moorman, Anthony, Yeoh, Allen, Yang, Wentao, Li, Chunliang, Bartram, Claus R., Mullighan, Charles G., Zimmerman, Martin, Hunger, Stephen P., Schrappe, Martin, Relling, Mary V., Stanulla, Martin, Loh, Mignon L., Houlston, Richard S., Yang, Jun J.

“…There is increasing evidence for a strong inherited genetic basis of susceptibility to acute lymphoblastic leukaemia (ALL) in children. To identify new risk…”
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Nonadherence to Oral Mercaptopurine and Risk of Relapse in Hispanic and Non-Hispanic White Children With Acute Lymphoblastic Leukemia: A Report From the Children's Oncology Group by BHATIA, Smita, LANDIER, Wendy, MASCARENHAS, Leo, KIM RITCHEY, A, CASILLAS, Jacqueline N, DICKENS, David S, MEZA, Jane, CARROLL, William L, RELLING, Mary V, LENNIE WONG, F, SHANGGUAN, Muyun, HAGEMAN, Lindsey, SCHAIBLE, Alexandra N, CARTER, Andrea R, HANBY, Cara L, LEISENRING, Wendy, YASUI, Yutaka, KORNEGAY, Nancy M

“…Systemic exposure to mercaptopurine (MP) is critical for durable remissions in children with acute lymphoblastic leukemia (ALL). Nonadherence to oral MP could…”
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Changes in body mass index, height, and weight in children during and after therapy for acute lymphoblastic leukemia by Browne, Emily K., Zhou, Yinmei, Chemaitilly, Wassim, Panetta, John C., Ness, Kirsten K., Kaste, Sue C., Cheng, Cheng, Relling, Mary V., Pui, Ching‐Hon, Inaba, Hiroto

“…Background Children with acute lymphoblastic leukemia (ALL) have an increased risk of obesity and short stature. To the authors’ knowledge, data regarding…”
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