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Showing 25 to 32 of 32 entries
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How do we measure the epigenome(s)?.

Multiple sclerosis (Houndmills, Basingstoke, England)

Klein HU, De Jager PL.
PMID: 29722595
Mult Scler. 2018 Apr;24(4):446-448. doi: 10.1177/1352458517750772.

No abstract available.

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Klein HU, De Jager PL. How do we measure the epigenome(s)?. Mult Scler. 2018;24(4):446-448doi: 10.1177/1352458517750772.
Klein, H. U., & De Jager, P. L. (2018). How do we measure the epigenome(s)?. Multiple sclerosis (Houndmills, Basingstoke, England), 24(4), 446-448. https://doi.org/10.1177/1352458517750772
Klein, Hans-Ulrich, and De Jager, Philip L. "How do we measure the epigenome(s)?." Multiple sclerosis (Houndmills, Basingstoke, England) vol. 24,4 (2018): 446-448. doi: https://doi.org/10.1177/1352458517750772
Klein HU, De Jager PL. How do we measure the epigenome(s)?. Mult Scler. 2018 Apr;24(4):446-448. doi: 10.1177/1352458517750772. PMID: 29722595.
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TGPred: a tumor gene prediction webserver for analyzing structural and functional impacts of variants.

Journal of molecular cell biology

Liu J, Liu W, Li XL, Li Q, Dai W, Li YY.
PMID: 32246141
J Mol Cell Biol. 2020 Jul 01;12(7):556-558. doi: 10.1093/jmcb/mjaa007.

No abstract available.

Cite
Liu J, Liu W, Li XL, et al. TGPred: a tumor gene prediction webserver for analyzing structural and functional impacts of variants. J Mol Cell Biol. 2020;12(7):556-558doi: 10.1093/jmcb/mjaa007.
Liu, J., Liu, W., Li, X. L., Li, Q., Dai, W., & Li, Y. Y. (2020). TGPred: a tumor gene prediction webserver for analyzing structural and functional impacts of variants. Journal of molecular cell biology, 12(7), 556-558. https://doi.org/10.1093/jmcb/mjaa007
Liu, Jixiang, et al. "TGPred: a tumor gene prediction webserver for analyzing structural and functional impacts of variants." Journal of molecular cell biology vol. 12,7 (2020): 556-558. doi: https://doi.org/10.1093/jmcb/mjaa007
Liu J, Liu W, Li XL, Li Q, Dai W, Li YY. TGPred: a tumor gene prediction webserver for analyzing structural and functional impacts of variants. J Mol Cell Biol. 2020 Jul 01;12(7):556-558. doi: 10.1093/jmcb/mjaa007. PMID: 32246141; PMCID: PMC7493032.
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Establishment of an induced pluripotent stem cell line (WMUi016-A) from a patient with X-linked Dent disease (X-Dent) carrying the hemizygote mutation p.R718* (c.2152C > T) in the CLCN5 gene.

Stem cell research

Chen H, Ding Y, Zhou W, Li J, Qian W, Zhang Z, Li C, Tong H, Rong X, Chu M, Chen C, Wang D, Guo X.
PMID: 33545640
Stem Cell Res. 2021 Mar;51:102209. doi: 10.1016/j.scr.2021.102209. Epub 2021 Jan 29.

The gene mutations of the chloride channel gene (CLCN5) can lead to the inherited X-linked Dent disease (X-Dent). The urine cells of a 4-year-old male X-Dent patient with the hemizygous CLCN5 gene mutation p.R718* (c.2152C > T) were reprogrammed...

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Chen H, Ding Y, Zhou W, et al. Establishment of an induced pluripotent stem cell line (WMUi016-A) from a patient with X-linked Dent disease (X-Dent) carrying the hemizygote mutation p.R718* (c.2152C > T) in the CLCN5 gene. Stem Cell Res. 2021;51:102209doi: 10.1016/j.scr.2021.102209.
Chen, H., Ding, Y., Zhou, W., Li, J., Qian, W., Zhang, Z., Li, C., Tong, H., Rong, X., Chu, M., Chen, C., Wang, D., & Guo, X. (2021). Establishment of an induced pluripotent stem cell line (WMUi016-A) from a patient with X-linked Dent disease (X-Dent) carrying the hemizygote mutation p.R718* (c.2152C > T) in the CLCN5 gene. Stem cell research, 51102209. https://doi.org/10.1016/j.scr.2021.102209
Chen, Huihui, et al. "Establishment of an induced pluripotent stem cell line (WMUi016-A) from a patient with X-linked Dent disease (X-Dent) carrying the hemizygote mutation p.R718* (c.2152C > T) in the CLCN5 gene." Stem cell research vol. 51 (2021): 102209. doi: https://doi.org/10.1016/j.scr.2021.102209
Chen H, Ding Y, Zhou W, Li J, Qian W, Zhang Z, Li C, Tong H, Rong X, Chu M, Chen C, Wang D, Guo X. Establishment of an induced pluripotent stem cell line (WMUi016-A) from a patient with X-linked Dent disease (X-Dent) carrying the hemizygote mutation p.R718* (c.2152C > T) in the CLCN5 gene. Stem Cell Res. 2021 Mar;51:102209. doi: 10.1016/j.scr.2021.102209. Epub 2021 Jan 29. PMID: 33545640.
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Mutation fingerprints encode cellular histories.

Nature

Naxerova K.
PMID: 34433973
Nature. 2021 Sep;597(7876):334-336. doi: 10.1038/d41586-021-02269-0.

No abstract available.

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Naxerova K. Mutation fingerprints encode cellular histories. Nature. 2021;597(7876):334-336doi: 10.1038/d41586-021-02269-0.
Naxerova, K. (2021). Mutation fingerprints encode cellular histories. Nature, 597(7876), 334-336. https://doi.org/10.1038/d41586-021-02269-0
Naxerova, Kamila. "Mutation fingerprints encode cellular histories." Nature vol. 597,7876 (2021): 334-336. doi: https://doi.org/10.1038/d41586-021-02269-0
Naxerova K. Mutation fingerprints encode cellular histories. Nature. 2021 Sep;597(7876):334-336. doi: 10.1038/d41586-021-02269-0. PMID: 34433973.
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Prevalence of class I-III BRAF mutations among 114,662 cancer patients in a large genomic database.

Experimental biology and medicine (Maywood, N.J.)

Owsley J, Stein MK, Porter J, In GK, Salem M, O'Day S, Elliott A, Poorman K, Gibney G, VanderWalde A.
PMID: 33019809
Exp Biol Med (Maywood). 2021 Jan;246(1):31-39. doi: 10.1177/1535370220959657. Epub 2020 Oct 05.

IMPACT STATEMENT: These data represent the largest aggregation of BRAF mutations within a single clinical database to our knowledge. The relative proportions of both BRAF V600 mutations and non-V600 mutations are informative in all cancers and by malignancy, and...

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Owsley J, Stein MK, Porter J, et al. Prevalence of class I-III BRAF mutations among 114,662 cancer patients in a large genomic database. Exp Biol Med (Maywood). 2020;246(1):31-39doi: 10.1177/1535370220959657.
Owsley, J., Stein, M. K., Porter, J., In, G. K., Salem, M., O'Day, S., Elliott, A., Poorman, K., Gibney, G., & VanderWalde, A. (2021). Prevalence of class I-III BRAF mutations among 114,662 cancer patients in a large genomic database. Experimental biology and medicine (Maywood, N.J.), 246(1), 31-39. https://doi.org/10.1177/1535370220959657
Owsley, Jeff, et al. "Prevalence of class I-III BRAF mutations among 114,662 cancer patients in a large genomic database." Experimental biology and medicine (Maywood, N.J.) vol. 246,1 (2021): 31-39. doi: https://doi.org/10.1177/1535370220959657
Owsley J, Stein MK, Porter J, In GK, Salem M, O'Day S, Elliott A, Poorman K, Gibney G, VanderWalde A. Prevalence of class I-III BRAF mutations among 114,662 cancer patients in a large genomic database. Exp Biol Med (Maywood). 2021 Jan;246(1):31-39. doi: 10.1177/1535370220959657. Epub 2020 Oct 05. PMID: 33019809; PMCID: PMC7797994.
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Estimated Cost-effectiveness of Genetic Testing in Siblings of Newborns With Cancer Susceptibility Gene Variants.

JAMA network open

O'Brien G, Christensen KD, Sullivan HK, Stout NK, Diller L, Yeh JM, Wu AC.
PMID: 34661666
JAMA Netw Open. 2021 Oct 01;4(10):e2129742. doi: 10.1001/jamanetworkopen.2021.29742.

No abstract available.

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O'Brien G, Christensen KD, Sullivan HK, et al. Estimated Cost-effectiveness of Genetic Testing in Siblings of Newborns With Cancer Susceptibility Gene Variants. JAMA Netw Open. 2021;4(10):e2129742doi: 10.1001/jamanetworkopen.2021.29742.
O'Brien, G., Christensen, K. D., Sullivan, H. K., Stout, N. K., Diller, L., Yeh, J. M., & Wu, A. C. (2021). Estimated Cost-effectiveness of Genetic Testing in Siblings of Newborns With Cancer Susceptibility Gene Variants. JAMA network open, 4(10), e2129742. https://doi.org/10.1001/jamanetworkopen.2021.29742
O'Brien, Grace, et al. "Estimated Cost-effectiveness of Genetic Testing in Siblings of Newborns With Cancer Susceptibility Gene Variants." JAMA network open vol. 4,10 (2021): e2129742. doi: https://doi.org/10.1001/jamanetworkopen.2021.29742
O'Brien G, Christensen KD, Sullivan HK, Stout NK, Diller L, Yeh JM, Wu AC. Estimated Cost-effectiveness of Genetic Testing in Siblings of Newborns With Cancer Susceptibility Gene Variants. JAMA Netw Open. 2021 Oct 01;4(10):e2129742. doi: 10.1001/jamanetworkopen.2021.29742. PMID: 34661666; PMCID: PMC8524309.
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Sequence error storms and the landscape of mutations in cancer.

Proceedings of the National Academy of Sciences of the United States of America

Kirsch S, Klein CA.
PMID: 22912407
Proc Natl Acad Sci U S A. 2012 Sep 04;109(36):14289-90. doi: 10.1073/pnas.1212246109. Epub 2012 Aug 21.

No abstract available.

Cite
Kirsch S, Klein CA. Sequence error storms and the landscape of mutations in cancer. Proc Natl Acad Sci U S A. 2012;109(36):14289-90doi: 10.1073/pnas.1212246109.
Kirsch, S., & Klein, C. A. (2012). Sequence error storms and the landscape of mutations in cancer. Proceedings of the National Academy of Sciences of the United States of America, 109(36), 14289-90. https://doi.org/10.1073/pnas.1212246109
Kirsch, Stefan, and Klein, Christoph A. "Sequence error storms and the landscape of mutations in cancer." Proceedings of the National Academy of Sciences of the United States of America vol. 109,36 (2012): 14289-90. doi: https://doi.org/10.1073/pnas.1212246109
Kirsch S, Klein CA. Sequence error storms and the landscape of mutations in cancer. Proc Natl Acad Sci U S A. 2012 Sep 04;109(36):14289-90. doi: 10.1073/pnas.1212246109. Epub 2012 Aug 21. PMID: 22912407; PMCID: PMC3437884.
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Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes.

Scientific reports

Arteche-López A, Ávila-Fernández A, Romero R, Riveiro-Álvarez R, López-Martínez MA, Giménez-Pardo A, Vélez-Monsalve C, Gallego-Merlo J, García-Vara I, Almoguera B, Bustamante-Aragonés A, Blanco-Kelly F, Tahsin-Swafiri S, Rodríguez-Pinilla E, Minguez P, Lorda I, Trujillo-Tiebas MJ, Ayuso C.
PMID: 33707547
Sci Rep. 2021 Mar 11;11(1):5697. doi: 10.1038/s41598-021-85182-w.

Despite the improved accuracy of next-generation sequencing (NGS), it is widely accepted that variants need to be validated using Sanger sequencing before reporting. Validation of all NGS variants considerably increases the turnaround time and costs of clinical diagnosis. We...

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Arteche-López A, Ávila-Fernández A, Romero R, et al. Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes. Sci Rep. 2021;11(1):5697doi: 10.1038/s41598-021-85182-w.
Arteche-López, A., Ávila-Fernández, A., Romero, R., Riveiro-Álvarez, R., López-Martínez, M. A., Giménez-Pardo, A., Vélez-Monsalve, C., Gallego-Merlo, J., García-Vara, I., Almoguera, B., Bustamante-Aragonés, A., Blanco-Kelly, F., Tahsin-Swafiri, S., Rodríguez-Pinilla, E., Minguez, P., Lorda, I., Trujillo-Tiebas, M. J., & Ayuso, C. (2021). Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes. Scientific reports, 11(1), 5697. https://doi.org/10.1038/s41598-021-85182-w
Arteche-López, A, et al. "Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes." Scientific reports vol. 11,1 (2021): 5697. doi: https://doi.org/10.1038/s41598-021-85182-w
Arteche-López A, Ávila-Fernández A, Romero R, Riveiro-Álvarez R, López-Martínez MA, Giménez-Pardo A, Vélez-Monsalve C, Gallego-Merlo J, García-Vara I, Almoguera B, Bustamante-Aragonés A, Blanco-Kelly F, Tahsin-Swafiri S, Rodríguez-Pinilla E, Minguez P, Lorda I, Trujillo-Tiebas MJ, Ayuso C. Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes. Sci Rep. 2021 Mar 11;11(1):5697. doi: 10.1038/s41598-021-85182-w. PMID: 33707547; PMCID: PMC7952542.
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Showing 25 to 32 of 32 entries