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Showing 1 to 12 of 21 entries
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Celecoxib Is Associated With Dystrophic Calcification and Aortic Valve Stenosis.

JACC. Basic to translational science

Bowler MA, Raddatz MA, Johnson CL, Lindman BR, Merryman WD.
PMID: 31061914
JACC Basic Transl Sci. 2019 Feb 22;4(2):135-143. doi: 10.1016/j.jacbts.2018.12.003. eCollection 2019 Apr.

Calcific aortic valve disease is a progressive fibrocalcific process that can only be treated with valve replacement. Cadherin-11 has recently been identified as a potential therapeutic target for calcific aortic valve disease. The already approved drug celecoxib, a cyclooxygenase-2...

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Bowler MA, Raddatz MA, Johnson CL, et al. Celecoxib Is Associated With Dystrophic Calcification and Aortic Valve Stenosis. JACC Basic Transl Sci. 2019;4(2):135-143doi: 10.1016/j.jacbts.2018.12.003.
Bowler, M. A., Raddatz, M. A., Johnson, C. L., Lindman, B. R., & Merryman, W. D. (2019). Celecoxib Is Associated With Dystrophic Calcification and Aortic Valve Stenosis. JACC. Basic to translational science, 4(2), 135-143. https://doi.org/10.1016/j.jacbts.2018.12.003
Bowler, Meghan A, et al. "Celecoxib Is Associated With Dystrophic Calcification and Aortic Valve Stenosis." JACC. Basic to translational science vol. 4,2 (2019): 135-143. doi: https://doi.org/10.1016/j.jacbts.2018.12.003
Bowler MA, Raddatz MA, Johnson CL, Lindman BR, Merryman WD. Celecoxib Is Associated With Dystrophic Calcification and Aortic Valve Stenosis. JACC Basic Transl Sci. 2019 Feb 22;4(2):135-143. doi: 10.1016/j.jacbts.2018.12.003. eCollection 2019 Apr. PMID: 31061914; PMCID: PMC6488810.
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Use of the PsycheMERGE Network to Investigate the Association Between Depression Polygenic Scores and White Blood Cell Count.

JAMA psychiatry

Sealock JM, Lee YH, Moscati A, Venkatesh S, Voloudakis G, Straub P, Singh K, Feng YA, Ge T, Roussos P, Smoller JW, Chen G, Davis LK.
PMID: 34668925
JAMA Psychiatry. 2021 Dec 01;78(12):1365-1374. doi: 10.1001/jamapsychiatry.2021.2959.

IMPORTANCE: Although depression is a common psychiatric disorder, its underlying biological basis remains poorly understood. Pairing depression polygenic scores with the results of clinical laboratory tests can reveal biological processes involved in depression etiology and in the physiological changes...

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Sealock JM, Lee YH, Moscati A, et al. Use of the PsycheMERGE Network to Investigate the Association Between Depression Polygenic Scores and White Blood Cell Count. JAMA Psychiatry. 2021;78(12):1365-1374doi: 10.1001/jamapsychiatry.2021.2959.
Sealock, J. M., Lee, Y. H., Moscati, A., Venkatesh, S., Voloudakis, G., Straub, P., Singh, K., Feng, Y. A., Ge, T., Roussos, P., Smoller, J. W., Chen, G., & Davis, L. K. (2021). Use of the PsycheMERGE Network to Investigate the Association Between Depression Polygenic Scores and White Blood Cell Count. JAMA psychiatry, 78(12), 1365-1374. https://doi.org/10.1001/jamapsychiatry.2021.2959
Sealock, Julia M, et al. "Use of the PsycheMERGE Network to Investigate the Association Between Depression Polygenic Scores and White Blood Cell Count." JAMA psychiatry vol. 78,12 (2021): 1365-1374. doi: https://doi.org/10.1001/jamapsychiatry.2021.2959
Sealock JM, Lee YH, Moscati A, Venkatesh S, Voloudakis G, Straub P, Singh K, Feng YA, Ge T, Roussos P, Smoller JW, Chen G, Davis LK. Use of the PsycheMERGE Network to Investigate the Association Between Depression Polygenic Scores and White Blood Cell Count. JAMA Psychiatry. 2021 Dec 01;78(12):1365-1374. doi: 10.1001/jamapsychiatry.2021.2959. PMID: 34668925; PMCID: PMC8529528.
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Identifying Potential Therapeutic Applications and Diagnostic Harms of Increased Bilirubin Concentrations: A Clinical and Genetic Approach.

Clinical pharmacology and therapeutics

Zanussi JT, Zhao J, Dorn CA, Liu G, Feng Q, Wei W, Mosley JD, Stein CM, Kawai VK.
PMID: 34625956
Clin Pharmacol Ther. 2022 Feb;111(2):435-443. doi: 10.1002/cpt.2441. Epub 2021 Oct 24.

Bilirubin has antioxidant and anti-inflammatory properties in vitro and in animal studies and protects against inflammatory, cardiovascular, and other diseases in observational studies; therefore, bilirubin has potential as a therapeutic agent. However, observational studies could be confounded by many...

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Zanussi JT, Zhao J, Dorn CA, et al. Identifying Potential Therapeutic Applications and Diagnostic Harms of Increased Bilirubin Concentrations: A Clinical and Genetic Approach. Clin Pharmacol Ther. 2021;111(2):435-443doi: 10.1002/cpt.2441.
Zanussi, J. T., Zhao, J., Dorn, C. A., Liu, G., Feng, Q., Wei, W., Mosley, J. D., Stein, C. M., & Kawai, V. K. (2022). Identifying Potential Therapeutic Applications and Diagnostic Harms of Increased Bilirubin Concentrations: A Clinical and Genetic Approach. Clinical pharmacology and therapeutics, 111(2), 435-443. https://doi.org/10.1002/cpt.2441
Zanussi, Jacy T, et al. "Identifying Potential Therapeutic Applications and Diagnostic Harms of Increased Bilirubin Concentrations: A Clinical and Genetic Approach." Clinical pharmacology and therapeutics vol. 111,2 (2022): 435-443. doi: https://doi.org/10.1002/cpt.2441
Zanussi JT, Zhao J, Dorn CA, Liu G, Feng Q, Wei W, Mosley JD, Stein CM, Kawai VK. Identifying Potential Therapeutic Applications and Diagnostic Harms of Increased Bilirubin Concentrations: A Clinical and Genetic Approach. Clin Pharmacol Ther. 2022 Feb;111(2):435-443. doi: 10.1002/cpt.2441. Epub 2021 Oct 24. PMID: 34625956; PMCID: PMC8748314.
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Pleiotropy of systemic lupus erythematosus risk alleles and cardiometabolic disorders: A phenome-wide association study and inverse-variance weighted meta-analysis.

Lupus

Kawai VK, Shi M, Liu G, Feng Q, Wei W, Chung CP, Walunas TL, Gordon AS, Linneman JG, Hebbring SJ, Harley JB, Cox NJ, Roden DM, Stein CM, Mosley JD.
PMID: 33977795
Lupus. 2021 Jul;30(8):1264-1272. doi: 10.1177/09612033211014952. Epub 2021 May 12.

OBJECTIVES: To test the hypothesis that genetic predisposition to systemic lupus erythematosus (SLE) increases the risk of cardiometabolic disorders.METHODS: Using 41 single nucleotide polymorphisms (SNPs) associated with SLE, we calculated a weighted genetic risk score (wGRS) for SLE. In...

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Kawai VK, Shi M, Liu G, et al. Pleiotropy of systemic lupus erythematosus risk alleles and cardiometabolic disorders: A phenome-wide association study and inverse-variance weighted meta-analysis. Lupus. 2021;30(8):1264-1272doi: 10.1177/09612033211014952.
Kawai, V. K., Shi, M., Liu, G., Feng, Q., Wei, W., Chung, C. P., Walunas, T. L., Gordon, A. S., Linneman, J. G., Hebbring, S. J., Harley, J. B., Cox, N. J., Roden, D. M., Stein, C. M., & Mosley, J. D. (2021). Pleiotropy of systemic lupus erythematosus risk alleles and cardiometabolic disorders: A phenome-wide association study and inverse-variance weighted meta-analysis. Lupus, 30(8), 1264-1272. https://doi.org/10.1177/09612033211014952
Kawai, Vivian K, et al. "Pleiotropy of systemic lupus erythematosus risk alleles and cardiometabolic disorders: A phenome-wide association study and inverse-variance weighted meta-analysis." Lupus vol. 30,8 (2021): 1264-1272. doi: https://doi.org/10.1177/09612033211014952
Kawai VK, Shi M, Liu G, Feng Q, Wei W, Chung CP, Walunas TL, Gordon AS, Linneman JG, Hebbring SJ, Harley JB, Cox NJ, Roden DM, Stein CM, Mosley JD. Pleiotropy of systemic lupus erythematosus risk alleles and cardiometabolic disorders: A phenome-wide association study and inverse-variance weighted meta-analysis. Lupus. 2021 Jul;30(8):1264-1272. doi: 10.1177/09612033211014952. Epub 2021 May 12. PMID: 33977795; PMCID: PMC8205989.
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Heart failure clinical care analysis uncovers risk reduction opportunities for preserved ejection fraction subtype.

Scientific reports

Levinson RT, Vaitinidin NS, Farber-Eger E, Roden DM, Lasko TA, Wells QS, Mosley JD.
PMID: 34545125
Sci Rep. 2021 Sep 20;11(1):18618. doi: 10.1038/s41598-021-97831-1.

Heart failure (HF) has no cure and, for HF with preserved ejection fraction (HFpEF), no life-extending treatments. Defining the clinical epidemiology of HF could facilitate earlier identification of high-risk individuals. We define the clinical epidemiology of HF subtypes (HFpEF...

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Levinson RT, Vaitinidin NS, Farber-Eger E, et al. Heart failure clinical care analysis uncovers risk reduction opportunities for preserved ejection fraction subtype. Sci Rep. 2021;11(1):18618doi: 10.1038/s41598-021-97831-1.
Levinson, R. T., Vaitinidin, N. S., Farber-Eger, E., Roden, D. M., Lasko, T. A., Wells, Q. S., & Mosley, J. D. (2021). Heart failure clinical care analysis uncovers risk reduction opportunities for preserved ejection fraction subtype. Scientific reports, 11(1), 18618. https://doi.org/10.1038/s41598-021-97831-1
Levinson, Rebecca T, et al. "Heart failure clinical care analysis uncovers risk reduction opportunities for preserved ejection fraction subtype." Scientific reports vol. 11,1 (2021): 18618. doi: https://doi.org/10.1038/s41598-021-97831-1
Levinson RT, Vaitinidin NS, Farber-Eger E, Roden DM, Lasko TA, Wells QS, Mosley JD. Heart failure clinical care analysis uncovers risk reduction opportunities for preserved ejection fraction subtype. Sci Rep. 2021 Sep 20;11(1):18618. doi: 10.1038/s41598-021-97831-1. PMID: 34545125; PMCID: PMC8452678.
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TPMT and NUDT15 Variants Predict Discontinuation of Azathioprine for Myelotoxicity in Patients with Inflammatory Disease: Real-World Clinical Results.

Clinical pharmacology and therapeutics

Dickson AL, Daniel LL, Zanussi J, Dale Plummer W, Wei WQ, Liu G, Reese T, Anandi P, Birdwell KA, Kawai V, Cox NJ, Dupont WD, Hung AM, Feng Q, Stein CM, Chung CP.
PMID: 34582038
Clin Pharmacol Ther. 2022 Jan;111(1):263-271. doi: 10.1002/cpt.2428. Epub 2021 Oct 12.

Azathioprine is used frequently to treat several inflammatory conditions. However, treatment is limited by adverse events-in particular, myelotoxicity. Thiopurine-S-methyltransferase (TPMT) and nudix hydrolase-15 (NUDT15) are enzymes involved in azathioprine metabolism; variants in the genes encoding these enzymes increase the...

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Dickson AL, Daniel LL, Zanussi J, et al. TPMT and NUDT15 Variants Predict Discontinuation of Azathioprine for Myelotoxicity in Patients with Inflammatory Disease: Real-World Clinical Results. Clin Pharmacol Ther. 2021;111(1):263-271doi: 10.1002/cpt.2428.
Dickson, A. L., Daniel, L. L., Zanussi, J., Dale Plummer, W., Wei, W. Q., Liu, G., Reese, T., Anandi, P., Birdwell, K. A., Kawai, V., Cox, N. J., Dupont, W. D., Hung, A. M., Feng, Q., Stein, C. M., & Chung, C. P. (2022). TPMT and NUDT15 Variants Predict Discontinuation of Azathioprine for Myelotoxicity in Patients with Inflammatory Disease: Real-World Clinical Results. Clinical pharmacology and therapeutics, 111(1), 263-271. https://doi.org/10.1002/cpt.2428
Dickson, Alyson L, et al. "TPMT and NUDT15 Variants Predict Discontinuation of Azathioprine for Myelotoxicity in Patients with Inflammatory Disease: Real-World Clinical Results." Clinical pharmacology and therapeutics vol. 111,1 (2022): 263-271. doi: https://doi.org/10.1002/cpt.2428
Dickson AL, Daniel LL, Zanussi J, Dale Plummer W, Wei WQ, Liu G, Reese T, Anandi P, Birdwell KA, Kawai V, Cox NJ, Dupont WD, Hung AM, Feng Q, Stein CM, Chung CP. TPMT and NUDT15 Variants Predict Discontinuation of Azathioprine for Myelotoxicity in Patients with Inflammatory Disease: Real-World Clinical Results. Clin Pharmacol Ther. 2022 Jan;111(1):263-271. doi: 10.1002/cpt.2428. Epub 2021 Oct 12. PMID: 34582038; PMCID: PMC8678305.
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Systemic inhibition of PTPN22 augments anticancer immunity.

The Journal of clinical investigation

Ho WJ, Croessmann S, Lin J, Phyo ZH, Charmsaz S, Danilova L, Mohan AA, Gross NE, Chen F, Dong J, Aggarwal D, Bai Y, Wang J, He J, Leatherman JM, Yarchoan M, Armstrong TD, Zaidi N, Fertig EJ, Denny JC, Park BH, Zhang ZY, Jaffee EM.
PMID: 34283806
J Clin Invest. 2021 Jul 20; doi: 10.1172/JCI146950. Epub 2021 Jul 20.

Both epidemiologic and cellular studies in the context of autoimmune diseases have established that protein tyrosine phosphatase non-receptor type 22 (PTPN22) is a key regulator of T cell receptor (TCR) signaling. However, its mechanism of action in tumors and...

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Ho WJ, Croessmann S, Lin J, et al. Systemic inhibition of PTPN22 augments anticancer immunity. J Clin Invest. 2021;doi: 10.1172/JCI146950.
Ho, W. J., Croessmann, S., Lin, J., Phyo, Z. H., Charmsaz, S., Danilova, L., Mohan, A. A., Gross, N. E., Chen, F., Dong, J., Aggarwal, D., Bai, Y., Wang, J., He, J., Leatherman, J. M., Yarchoan, M., Armstrong, T. D., Zaidi, N., Fertig, E. J., Denny, J. C., Park, B. H., Zhang, Z. Y., & Jaffee, E. M. (2021). Systemic inhibition of PTPN22 augments anticancer immunity. The Journal of clinical investigation, . https://doi.org/10.1172/JCI146950
Ho, Won Jin, et al. "Systemic inhibition of PTPN22 augments anticancer immunity." The Journal of clinical investigation vol. (2021). doi: https://doi.org/10.1172/JCI146950
Ho WJ, Croessmann S, Lin J, Phyo ZH, Charmsaz S, Danilova L, Mohan AA, Gross NE, Chen F, Dong J, Aggarwal D, Bai Y, Wang J, He J, Leatherman JM, Yarchoan M, Armstrong TD, Zaidi N, Fertig EJ, Denny JC, Park BH, Zhang ZY, Jaffee EM. Systemic inhibition of PTPN22 augments anticancer immunity. J Clin Invest. 2021 Jul 20; doi: 10.1172/JCI146950. Epub 2021 Jul 20. PMID: 34283806; PMCID: PMC8409589.
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Calcium-Sensing Receptor Polymorphisms at rs1801725 Are Associated with Increased Risk of Secondary Malignancies.

Journal of personalized medicine

Actkins KV, Beasley HK, Faucon AB, Davis LK, Sakwe AM.
PMID: 34357109
J Pers Med. 2021 Jul 06;11(7). doi: 10.3390/jpm11070642.

Dysregulation of systemic calcium homeostasis during malignancy is common in most patients with high-grade tumors. However, it remains unclear whether single nucleotide polymorphisms (SNPs) that alter the sensitivity of the calcium-sensing receptor (CaSR) to circulating calcium are associated with...

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Actkins KV, Beasley HK, Faucon AB, et al. Calcium-Sensing Receptor Polymorphisms at rs1801725 Are Associated with Increased Risk of Secondary Malignancies. J Pers Med. 2021;11(7)doi: 10.3390/jpm11070642.
Actkins, K. V., Beasley, H. K., Faucon, A. B., Davis, L. K., & Sakwe, A. M. (2021). Calcium-Sensing Receptor Polymorphisms at rs1801725 Are Associated with Increased Risk of Secondary Malignancies. Journal of personalized medicine, 11(7), . https://doi.org/10.3390/jpm11070642
Actkins, Ky'Era V, et al. "Calcium-Sensing Receptor Polymorphisms at rs1801725 Are Associated with Increased Risk of Secondary Malignancies." Journal of personalized medicine vol. 11,7 (2021). doi: https://doi.org/10.3390/jpm11070642
Actkins KV, Beasley HK, Faucon AB, Davis LK, Sakwe AM. Calcium-Sensing Receptor Polymorphisms at rs1801725 Are Associated with Increased Risk of Secondary Malignancies. J Pers Med. 2021 Jul 06;11(7). doi: 10.3390/jpm11070642. PMID: 34357109; PMCID: PMC8304025.
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Identifying Potential Therapeutic Applications and Diagnostic Harms of Increased Bilirubin Concentrations: A Clinical and Genetic Approach.

Clinical pharmacology and therapeutics

Zanussi JT, Zhao J, Dorn CA, Liu G, Feng Q, Wei W, Mosley JD, Stein CM, Kawai VK.
PMID: 34625956
Clin Pharmacol Ther. 2022 Feb;111(2):435-443. doi: 10.1002/cpt.2441. Epub 2021 Oct 24.

Bilirubin has antioxidant and anti-inflammatory properties in vitro and in animal studies and protects against inflammatory, cardiovascular, and other diseases in observational studies; therefore, bilirubin has potential as a therapeutic agent. However, observational studies could be confounded by many...

Cite
Zanussi JT, Zhao J, Dorn CA, et al. Identifying Potential Therapeutic Applications and Diagnostic Harms of Increased Bilirubin Concentrations: A Clinical and Genetic Approach. Clin Pharmacol Ther. 2021;111(2):435-443doi: 10.1002/cpt.2441.
Zanussi, J. T., Zhao, J., Dorn, C. A., Liu, G., Feng, Q., Wei, W., Mosley, J. D., Stein, C. M., & Kawai, V. K. (2022). Identifying Potential Therapeutic Applications and Diagnostic Harms of Increased Bilirubin Concentrations: A Clinical and Genetic Approach. Clinical pharmacology and therapeutics, 111(2), 435-443. https://doi.org/10.1002/cpt.2441
Zanussi, Jacy T, et al. "Identifying Potential Therapeutic Applications and Diagnostic Harms of Increased Bilirubin Concentrations: A Clinical and Genetic Approach." Clinical pharmacology and therapeutics vol. 111,2 (2022): 435-443. doi: https://doi.org/10.1002/cpt.2441
Zanussi JT, Zhao J, Dorn CA, Liu G, Feng Q, Wei W, Mosley JD, Stein CM, Kawai VK. Identifying Potential Therapeutic Applications and Diagnostic Harms of Increased Bilirubin Concentrations: A Clinical and Genetic Approach. Clin Pharmacol Ther. 2022 Feb;111(2):435-443. doi: 10.1002/cpt.2441. Epub 2021 Oct 24. PMID: 34625956.
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Phenotypic Profiling in Subjects Heterozygous for 1 of 2 Rare Variants in the Hypophosphatasia Gene (.

Journal of the Endocrine Society

Tilden DR, Sheehan JH, Newman JH, Meiler J, Capra JA, Ramirez A, Simmons J, Dahir K.
PMID: 32803091
J Endocr Soc. 2020 Jun 28;4(8):bvaa084. doi: 10.1210/jendso/bvaa084. eCollection 2020 Aug 01.

CONTEXT: Hypophosphatasia (HPP) is a syndrome marked by low serum alkaline phosphatase (AlkP) activity as well as musculoskeletal and/or dental disease. While the majority of subjects with HPP carry a pathogenic variant in the METHODS: Through BioVU, a DNA...

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Tilden DR, Sheehan JH, Newman JH, et al. Phenotypic Profiling in Subjects Heterozygous for 1 of 2 Rare Variants in the Hypophosphatasia Gene (. J Endocr Soc. 2020;4(8):bvaa084doi: 10.1210/jendso/bvaa084.
Tilden, D. R., Sheehan, J. H., Newman, J. H., Meiler, J., Capra, J. A., Ramirez, A., Simmons, J., & Dahir, K. (2020). Phenotypic Profiling in Subjects Heterozygous for 1 of 2 Rare Variants in the Hypophosphatasia Gene (. Journal of the Endocrine Society, 4(8), bvaa084. https://doi.org/10.1210/jendso/bvaa084
Tilden, Daniel R, et al. "Phenotypic Profiling in Subjects Heterozygous for 1 of 2 Rare Variants in the Hypophosphatasia Gene (." Journal of the Endocrine Society vol. 4,8 (2020): bvaa084. doi: https://doi.org/10.1210/jendso/bvaa084
Tilden DR, Sheehan JH, Newman JH, Meiler J, Capra JA, Ramirez A, Simmons J, Dahir K. Phenotypic Profiling in Subjects Heterozygous for 1 of 2 Rare Variants in the Hypophosphatasia Gene (. J Endocr Soc. 2020 Jun 28;4(8):bvaa084. doi: 10.1210/jendso/bvaa084. eCollection 2020 Aug 01. PMID: 32803091; PMCID: PMC7417882.
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TPMT and NUDT15 Variants Predict Discontinuation of Azathioprine for Myelotoxicity in Patients with Inflammatory Disease: Real-World Clinical Results.

Clinical pharmacology and therapeutics

Dickson AL, Daniel LL, Zanussi J, Dale Plummer W, Wei WQ, Liu G, Reese T, Anandi P, Birdwell KA, Kawai V, Cox NJ, Dupont WD, Hung AM, Feng Q, Stein CM, Chung CP.
PMID: 34582038
Clin Pharmacol Ther. 2022 Jan;111(1):263-271. doi: 10.1002/cpt.2428. Epub 2021 Oct 12.

Azathioprine is used frequently to treat several inflammatory conditions. However, treatment is limited by adverse events-in particular, myelotoxicity. Thiopurine-S-methyltransferase (TPMT) and nudix hydrolase-15 (NUDT15) are enzymes involved in azathioprine metabolism; variants in the genes encoding these enzymes increase the...

Cite
Dickson AL, Daniel LL, Zanussi J, et al. TPMT and NUDT15 Variants Predict Discontinuation of Azathioprine for Myelotoxicity in Patients with Inflammatory Disease: Real-World Clinical Results. Clin Pharmacol Ther. 2021;111(1):263-271doi: 10.1002/cpt.2428.
Dickson, A. L., Daniel, L. L., Zanussi, J., Dale Plummer, W., Wei, W. Q., Liu, G., Reese, T., Anandi, P., Birdwell, K. A., Kawai, V., Cox, N. J., Dupont, W. D., Hung, A. M., Feng, Q., Stein, C. M., & Chung, C. P. (2022). TPMT and NUDT15 Variants Predict Discontinuation of Azathioprine for Myelotoxicity in Patients with Inflammatory Disease: Real-World Clinical Results. Clinical pharmacology and therapeutics, 111(1), 263-271. https://doi.org/10.1002/cpt.2428
Dickson, Alyson L, et al. "TPMT and NUDT15 Variants Predict Discontinuation of Azathioprine for Myelotoxicity in Patients with Inflammatory Disease: Real-World Clinical Results." Clinical pharmacology and therapeutics vol. 111,1 (2022): 263-271. doi: https://doi.org/10.1002/cpt.2428
Dickson AL, Daniel LL, Zanussi J, Dale Plummer W, Wei WQ, Liu G, Reese T, Anandi P, Birdwell KA, Kawai V, Cox NJ, Dupont WD, Hung AM, Feng Q, Stein CM, Chung CP. TPMT and NUDT15 Variants Predict Discontinuation of Azathioprine for Myelotoxicity in Patients with Inflammatory Disease: Real-World Clinical Results. Clin Pharmacol Ther. 2022 Jan;111(1):263-271. doi: 10.1002/cpt.2428. Epub 2021 Oct 12. PMID: 34582038; PMCID: PMC8678305.
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Phenome risk classification enables phenotypic imputation and gene discovery in developmental stuttering.

American journal of human genetics

Shaw DM, Polikowsky HP, Pruett DG, Chen HH, Petty LE, Viljoen KZ, Beilby JM, Jones RM, Kraft SJ, Below JE.
PMID: 34861174
Am J Hum Genet. 2021 Dec 02;108(12):2271-2283. doi: 10.1016/j.ajhg.2021.11.004.

Developmental stuttering is a speech disorder characterized by disruption in the forward movement of speech. This disruption includes part-word and single-syllable repetitions, prolongations, and involuntary tension that blocks syllables and words, and the disorder has a life-time prevalence of...

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Shaw DM, Polikowsky HP, Pruett DG, et al. Phenome risk classification enables phenotypic imputation and gene discovery in developmental stuttering. Am J Hum Genet. 2021;108(12):2271-2283doi: 10.1016/j.ajhg.2021.11.004.
Shaw, D. M., Polikowsky, H. P., Pruett, D. G., Chen, H. H., Petty, L. E., Viljoen, K. Z., Beilby, J. M., Jones, R. M., Kraft, S. J., & Below, J. E. (2021). Phenome risk classification enables phenotypic imputation and gene discovery in developmental stuttering. American journal of human genetics, 108(12), 2271-2283. https://doi.org/10.1016/j.ajhg.2021.11.004
Shaw, Douglas M, et al. "Phenome risk classification enables phenotypic imputation and gene discovery in developmental stuttering." American journal of human genetics vol. 108,12 (2021): 2271-2283. doi: https://doi.org/10.1016/j.ajhg.2021.11.004
Shaw DM, Polikowsky HP, Pruett DG, Chen HH, Petty LE, Viljoen KZ, Beilby JM, Jones RM, Kraft SJ, Below JE. Phenome risk classification enables phenotypic imputation and gene discovery in developmental stuttering. Am J Hum Genet. 2021 Dec 02;108(12):2271-2283. doi: 10.1016/j.ajhg.2021.11.004. PMID: 34861174.
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Showing 1 to 12 of 21 entries