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A comprehensive evaluation of collapsing methods using simulated and real data: excellent annotation of functionality and large sample sizes required.

Frontiers in genetics

Dering C, König IR, Ramsey LB, Relling MV, Yang W, Ziegler A.
PMID: 25309579
Front Genet. 2014 Sep 15;5:323. doi: 10.3389/fgene.2014.00323. eCollection 2014.

The advent of next generation sequencing (NGS) technologies enabled the investigation of the rare variant-common disease hypothesis in unrelated individuals, even on the genome-wide level. Analysis of this hypothesis requires tailored statistical methods as single marker tests fail on...

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Dering C, König IR, Ramsey LB, et al. A comprehensive evaluation of collapsing methods using simulated and real data: excellent annotation of functionality and large sample sizes required. Front Genet. 2014;5:323doi: 10.3389/fgene.2014.00323.
Dering, C., König, I. R., Ramsey, L. B., Relling, M. V., Yang, W., & Ziegler, A. (2014). A comprehensive evaluation of collapsing methods using simulated and real data: excellent annotation of functionality and large sample sizes required. Frontiers in genetics, 5323. https://doi.org/10.3389/fgene.2014.00323
Dering, Carmen, et al. "A comprehensive evaluation of collapsing methods using simulated and real data: excellent annotation of functionality and large sample sizes required." Frontiers in genetics vol. 5 (2014): 323. doi: https://doi.org/10.3389/fgene.2014.00323
Dering C, König IR, Ramsey LB, Relling MV, Yang W, Ziegler A. A comprehensive evaluation of collapsing methods using simulated and real data: excellent annotation of functionality and large sample sizes required. Front Genet. 2014 Sep 15;5:323. doi: 10.3389/fgene.2014.00323. eCollection 2014. PMID: 25309579; PMCID: PMC4164031.
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Exploratory Failure Time Analysis in Large Scale Genomics.

Computational statistics & data analysis

Cheng C.
PMID: 26681817
Comput Stat Data Anal. 2016 Mar 01;95:192-206. doi: 10.1016/j.csda.2015.10.004.

In large scale genomic analyses dealing with detecting genotype-phenotype associations, such as genome wide association studies (GWAS), it is desirable to have numerically and statistically robust procedures to test the stochastic independence null hypothesis against certain alternatives. Motivated by...

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Cheng C. Exploratory Failure Time Analysis in Large Scale Genomics. Comput Stat Data Anal. 2016;95:192-206doi: 10.1016/j.csda.2015.10.004.
Cheng, C. (2016). Exploratory Failure Time Analysis in Large Scale Genomics. Computational statistics & data analysis, 95192-206. https://doi.org/10.1016/j.csda.2015.10.004
Cheng, Cheng. "Exploratory Failure Time Analysis in Large Scale Genomics." Computational statistics & data analysis vol. 95 (2016): 192-206. doi: https://doi.org/10.1016/j.csda.2015.10.004
Cheng C. Exploratory Failure Time Analysis in Large Scale Genomics. Comput Stat Data Anal. 2016 Mar 01;95:192-206. doi: 10.1016/j.csda.2015.10.004. PMID: 26681817; PMCID: PMC4677332.
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Identification of small molecules that mitigate vincristine-induced neurotoxicity while sensitizing leukemia cells to vincristine.

Clinical and translational science

Diouf B, Wing C, Panetta JC, Eddins D, Lin W, Yang W, Fan Y, Pei D, Cheng C, Delaney SM, Zhang W, Bonten EJ, Crews KR, Paugh SW, Li L, Freeman BB, Autry RJ, Beard JA, Ferguson DC, Janke LJ, Ness KK, Chen T, Zakharenko SS, Jeha S, Pui CH, Relling MV, Eileen Dolan M, Evans WE.
PMID: 33742760
Clin Transl Sci. 2021 Jul;14(4):1490-1504. doi: 10.1111/cts.13012. Epub 2021 May 31.

Vincristine (VCR) is one of the most widely prescribed medications for treating solid tumors and acute lymphoblastic leukemia (ALL) in children and adults. However, its major dose-limiting toxicity is peripheral neuropathy that can disrupt curative therapy. Peripheral neuropathy can...

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Diouf B, Wing C, Panetta JC, et al. Identification of small molecules that mitigate vincristine-induced neurotoxicity while sensitizing leukemia cells to vincristine. Clin Transl Sci. 2021;14(4):1490-1504doi: 10.1111/cts.13012.
Diouf, B., Wing, C., Panetta, J. C., Eddins, D., Lin, W., Yang, W., Fan, Y., Pei, D., Cheng, C., Delaney, S. M., Zhang, W., Bonten, E. J., Crews, K. R., Paugh, S. W., Li, L., Freeman, B. B., Autry, R. J., Beard, J. A., Ferguson, D. C., Janke, L. J., Ness, K. K., Chen, T., Zakharenko, S. S., Jeha, S., Pui, C. H., Relling, M. V., Eileen Dolan, M., & Evans, W. E. (2021). Identification of small molecules that mitigate vincristine-induced neurotoxicity while sensitizing leukemia cells to vincristine. Clinical and translational science, 14(4), 1490-1504. https://doi.org/10.1111/cts.13012
Diouf, Barthelemy, et al. "Identification of small molecules that mitigate vincristine-induced neurotoxicity while sensitizing leukemia cells to vincristine." Clinical and translational science vol. 14,4 (2021): 1490-1504. doi: https://doi.org/10.1111/cts.13012
Diouf B, Wing C, Panetta JC, Eddins D, Lin W, Yang W, Fan Y, Pei D, Cheng C, Delaney SM, Zhang W, Bonten EJ, Crews KR, Paugh SW, Li L, Freeman BB, Autry RJ, Beard JA, Ferguson DC, Janke LJ, Ness KK, Chen T, Zakharenko SS, Jeha S, Pui CH, Relling MV, Eileen Dolan M, Evans WE. Identification of small molecules that mitigate vincristine-induced neurotoxicity while sensitizing leukemia cells to vincristine. Clin Transl Sci. 2021 Jul;14(4):1490-1504. doi: 10.1111/cts.13012. Epub 2021 May 31. PMID: 33742760; PMCID: PMC8301581.
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Evidence synthesis and guideline development in genomic medicine: current status and future prospects.

Genetics in medicine : official journal of the American College of Medical Genetics

Schully SD, Lam TK, Dotson WD, Chang CQ, Aronson N, Birkeland ML, Brewster SJ, Boccia S, Buchanan AH, Calonge N, Calzone K, Djulbegovic B, Goddard KA, Klein RD, Klein TE, Lau J, Long R, Lyman GH, Morgan RL, Palmer CG, Relling MV, Rubinstein WS, Swen JJ, Terry SF, Williams MS, Khoury MJ.
PMID: 24946156
Genet Med. 2015 Jan;17(1):63-7. doi: 10.1038/gim.2014.69. Epub 2014 Jun 19.

PURPOSE: With the accelerated implementation of genomic medicine, health-care providers will depend heavily on professional guidelines and recommendations. Because genomics affects many diseases across the life span, no single professional group covers the entirety of this rapidly developing field.METHODS:...

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Schully SD, Lam TK, Dotson WD, et al. Evidence synthesis and guideline development in genomic medicine: current status and future prospects. Genet Med. 2014;17(1):63-7doi: 10.1038/gim.2014.69.
Schully, S. D., Lam, T. K., Dotson, W. D., Chang, C. Q., Aronson, N., Birkeland, M. L., Brewster, S. J., Boccia, S., Buchanan, A. H., Calonge, N., Calzone, K., Djulbegovic, B., Goddard, K. A., Klein, R. D., Klein, T. E., Lau, J., Long, R., Lyman, G. H., Morgan, R. L., Palmer, C. G., Relling, M. V., Rubinstein, W. S., Swen, J. J., Terry, S. F., Williams, M. S., & Khoury, M. J. (2015). Evidence synthesis and guideline development in genomic medicine: current status and future prospects. Genetics in medicine : official journal of the American College of Medical Genetics, 17(1), 63-7. https://doi.org/10.1038/gim.2014.69
Schully, Sheri D, et al. "Evidence synthesis and guideline development in genomic medicine: current status and future prospects." Genetics in medicine : official journal of the American College of Medical Genetics vol. 17,1 (2015): 63-7. doi: https://doi.org/10.1038/gim.2014.69
Schully SD, Lam TK, Dotson WD, Chang CQ, Aronson N, Birkeland ML, Brewster SJ, Boccia S, Buchanan AH, Calonge N, Calzone K, Djulbegovic B, Goddard KA, Klein RD, Klein TE, Lau J, Long R, Lyman GH, Morgan RL, Palmer CG, Relling MV, Rubinstein WS, Swen JJ, Terry SF, Williams MS, Khoury MJ. Evidence synthesis and guideline development in genomic medicine: current status and future prospects. Genet Med. 2015 Jan;17(1):63-7. doi: 10.1038/gim.2014.69. Epub 2014 Jun 19. PMID: 24946156; PMCID: PMC4272332.
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Pharmacogenomics of adverse effects of anti-leukemic agents in children.

The journal of pediatric pharmacology and therapeutics : JPPT : the official journal of PPAG

Relling MV.
PMID: 23118655
J Pediatr Pharmacol Ther. 2012 Jan;17(1):7-11. doi: 10.5863/1551-6776-17.1.7.

No abstract available.

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Relling MV. Pharmacogenomics of adverse effects of anti-leukemic agents in children. J Pediatr Pharmacol Ther. 2012;17(1):7-11doi: 10.5863/1551-6776-17.1.7.
Relling, M. V. (2012). Pharmacogenomics of adverse effects of anti-leukemic agents in children. The journal of pediatric pharmacology and therapeutics : JPPT : the official journal of PPAG, 17(1), 7-11. https://doi.org/10.5863/1551-6776-17.1.7
Relling, Mary V. "Pharmacogenomics of adverse effects of anti-leukemic agents in children." The journal of pediatric pharmacology and therapeutics : JPPT : the official journal of PPAG vol. 17,1 (2012): 7-11. doi: https://doi.org/10.5863/1551-6776-17.1.7
Relling MV. Pharmacogenomics of adverse effects of anti-leukemic agents in children. J Pediatr Pharmacol Ther. 2012 Jan;17(1):7-11. doi: 10.5863/1551-6776-17.1.7. PMID: 23118655; PMCID: PMC3428190.
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Rapid and powerful detection of subtle allelic imbalance from exome sequencing data with hapLOHseq.

Bioinformatics (Oxford, England)

San Lucas FA, Sivakumar S, Vattathil S, Fowler J, Vilar E, Scheet P.
PMID: 27288500
Bioinformatics. 2016 Oct 01;32(19):3015-7. doi: 10.1093/bioinformatics/btw340. Epub 2016 Jun 10.

MOTIVATION: The detection of subtle genomic allelic imbalance events has many potential applications. For example, identifying cancer-associated allelic imbalanced regions in low tumor-cellularity samples or in low-proportion tumor subclones can be used for early cancer detection, prognostic assessment and...

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San Lucas FA, Sivakumar S, Vattathil S, et al. Rapid and powerful detection of subtle allelic imbalance from exome sequencing data with hapLOHseq. Bioinformatics. 2016;32(19):3015-7doi: 10.1093/bioinformatics/btw340.
San Lucas, F. A., Sivakumar, S., Vattathil, S., Fowler, J., Vilar, E., & Scheet, P. (2016). Rapid and powerful detection of subtle allelic imbalance from exome sequencing data with hapLOHseq. Bioinformatics (Oxford, England), 32(19), 3015-7. https://doi.org/10.1093/bioinformatics/btw340
San Lucas, F Anthony, et al. "Rapid and powerful detection of subtle allelic imbalance from exome sequencing data with hapLOHseq." Bioinformatics (Oxford, England) vol. 32,19 (2016): 3015-7. doi: https://doi.org/10.1093/bioinformatics/btw340
San Lucas FA, Sivakumar S, Vattathil S, Fowler J, Vilar E, Scheet P. Rapid and powerful detection of subtle allelic imbalance from exome sequencing data with hapLOHseq. Bioinformatics. 2016 Oct 01;32(19):3015-7. doi: 10.1093/bioinformatics/btw340. Epub 2016 Jun 10. PMID: 27288500; PMCID: PMC5039922.
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Treatment response and outcome of children with T-cell acute lymphoblastic leukemia expressing the gamma-delta T-cell receptor.

Oncoimmunology

Pui CH, Pei D, Cheng C, Tomchuck SL, Evans SN, Inaba H, Jeha S, Raimondi SC, Choi JK, Thomas PG, Dallas MH.
PMID: 31413907
Oncoimmunology. 2019 May 17;8(8):1599637. doi: 10.1080/2162402X.2019.1599637. eCollection 2019.

T-cell malignancies expressing the γδ T-cell receptor (TCR) are often associated with poor prognosis. Here, we determined the clinical outcome of pediatric patients with T-cell acute lymphoblastic leukemia (T-ALL) expressing the γδ TCR. Of 100 newly diagnosed T-ALL patients,...

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Pui CH, Pei D, Cheng C, et al. Treatment response and outcome of children with T-cell acute lymphoblastic leukemia expressing the gamma-delta T-cell receptor. Oncoimmunology. 2019;8(8):1599637doi: 10.1080/2162402X.2019.1599637.
Pui, C. H., Pei, D., Cheng, C., Tomchuck, S. L., Evans, S. N., Inaba, H., Jeha, S., Raimondi, S. C., Choi, J. K., Thomas, P. G., & Dallas, M. H. (2019). Treatment response and outcome of children with T-cell acute lymphoblastic leukemia expressing the gamma-delta T-cell receptor. Oncoimmunology, 8(8), 1599637. https://doi.org/10.1080/2162402X.2019.1599637
Pui, Ching-Hon, et al. "Treatment response and outcome of children with T-cell acute lymphoblastic leukemia expressing the gamma-delta T-cell receptor." Oncoimmunology vol. 8,8 (2019): 1599637. doi: https://doi.org/10.1080/2162402X.2019.1599637
Pui CH, Pei D, Cheng C, Tomchuck SL, Evans SN, Inaba H, Jeha S, Raimondi SC, Choi JK, Thomas PG, Dallas MH. Treatment response and outcome of children with T-cell acute lymphoblastic leukemia expressing the gamma-delta T-cell receptor. Oncoimmunology. 2019 May 17;8(8):1599637. doi: 10.1080/2162402X.2019.1599637. eCollection 2019. PMID: 31413907; PMCID: PMC6682360.
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Genetic association with B-cell acute lymphoblastic leukemia in allogeneic transplant patients differs by age and sex.

Blood advances

Clay-Gilmour AI, Hahn T, Preus LM, Onel K, Skol A, Hungate E, Zhu Q, Haiman CA, Stram DO, Pooler L, Sheng X, Yan L, Liu Q, Hu Q, Liu S, Battaglia S, Zhu X, Block AW, Sait SNJ, Karaesmen E, Rizvi A, Weisdorf DJ, Ambrosone CB, Tritchler D, Ellinghaus E, Ellinghaus D, Stanulla M, Clavel J, Orsi L, Spellman S, Pasquini MC, McCarthy PL, Sucheston-Campbell LE.
PMID: 29296818
Blood Adv. 2017 Sep 08;1(20):1717-1728. doi: 10.1182/bloodadvances.2017006023. eCollection 2017 Sep 12.

The incidence and mortality rates of B-cell acute lymphoblastic leukemia (B-ALL) differ by age and sex. To determine if inherited genetic susceptibility contributes to these differences we performed 2 genome-wide association studies (GWAS) by age, sex, and subtype and...

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Clay-Gilmour AI, Hahn T, Preus LM, et al. Genetic association with B-cell acute lymphoblastic leukemia in allogeneic transplant patients differs by age and sex. Blood Adv. 2017;1(20):1717-1728doi: 10.1182/bloodadvances.2017006023.
Clay-Gilmour, A. I., Hahn, T., Preus, L. M., Onel, K., Skol, A., Hungate, E., Zhu, Q., Haiman, C. A., Stram, D. O., Pooler, L., Sheng, X., Yan, L., Liu, Q., Hu, Q., Liu, S., Battaglia, S., Zhu, X., Block, A. W., Sait, S. N. J., Karaesmen, E., Rizvi, A., Weisdorf, D. J., Ambrosone, C. B., Tritchler, D., Ellinghaus, E., Ellinghaus, D., Stanulla, M., Clavel, J., Orsi, L., Spellman, S., Pasquini, M. C., McCarthy, P. L., & Sucheston-Campbell, L. E. (2017). Genetic association with B-cell acute lymphoblastic leukemia in allogeneic transplant patients differs by age and sex. Blood advances, 1(20), 1717-1728. https://doi.org/10.1182/bloodadvances.2017006023
Clay-Gilmour, Alyssa I, et al. "Genetic association with B-cell acute lymphoblastic leukemia in allogeneic transplant patients differs by age and sex." Blood advances vol. 1,20 (2017): 1717-1728. doi: https://doi.org/10.1182/bloodadvances.2017006023
Clay-Gilmour AI, Hahn T, Preus LM, Onel K, Skol A, Hungate E, Zhu Q, Haiman CA, Stram DO, Pooler L, Sheng X, Yan L, Liu Q, Hu Q, Liu S, Battaglia S, Zhu X, Block AW, Sait SNJ, Karaesmen E, Rizvi A, Weisdorf DJ, Ambrosone CB, Tritchler D, Ellinghaus E, Ellinghaus D, Stanulla M, Clavel J, Orsi L, Spellman S, Pasquini MC, McCarthy PL, Sucheston-Campbell LE. Genetic association with B-cell acute lymphoblastic leukemia in allogeneic transplant patients differs by age and sex. Blood Adv. 2017 Sep 08;1(20):1717-1728. doi: 10.1182/bloodadvances.2017006023. eCollection 2017 Sep 12. PMID: 29296818; PMCID: PMC5728332.
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Individual prediction of nonadherence to oral mercaptopurine in children with acute lymphoblastic leukemia: Results from COG AALL03N1.

Cancer

Hoppmann AL, Chen Y, Landier W, Hageman L, Evans WE, Wong FL, Relling MV, Bhatia S.
PMID: 34161608
Cancer. 2021 Oct 15;127(20):3832-3839. doi: 10.1002/cncr.33760. Epub 2021 Jun 23.

BACKGROUND: Poor mercaptopurine (6MP) adherence (mean adherence rate < 90%) increases the relapse risk among children with acute lymphoblastic leukemia (ALL). 6MP adherence remains difficult to measure in real time. Easily measured patient-level factors could identify patients at risk...

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Hoppmann AL, Chen Y, Landier W, et al. Individual prediction of nonadherence to oral mercaptopurine in children with acute lymphoblastic leukemia: Results from COG AALL03N1. Cancer. 2021;127(20):3832-3839doi: 10.1002/cncr.33760.
Hoppmann, A. L., Chen, Y., Landier, W., Hageman, L., Evans, W. E., Wong, F. L., Relling, M. V., & Bhatia, S. (2021). Individual prediction of nonadherence to oral mercaptopurine in children with acute lymphoblastic leukemia: Results from COG AALL03N1. Cancer, 127(20), 3832-3839. https://doi.org/10.1002/cncr.33760
Hoppmann, Anna L, et al. "Individual prediction of nonadherence to oral mercaptopurine in children with acute lymphoblastic leukemia: Results from COG AALL03N1." Cancer vol. 127,20 (2021): 3832-3839. doi: https://doi.org/10.1002/cncr.33760
Hoppmann AL, Chen Y, Landier W, Hageman L, Evans WE, Wong FL, Relling MV, Bhatia S. Individual prediction of nonadherence to oral mercaptopurine in children with acute lymphoblastic leukemia: Results from COG AALL03N1. Cancer. 2021 Oct 15;127(20):3832-3839. doi: 10.1002/cncr.33760. Epub 2021 Jun 23. PMID: 34161608; PMCID: PMC8478829.
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