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GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes.

Cancers

Caleca L, Colombo M, van Overeem Hansen T, Lázaro C, Manoukian S, Parsons MT, Spurdle AB, Radice P.
PMID: 30696104
Cancers (Basel). 2019 Jan 28;11(2). doi: 10.3390/cancers11020151.

Genetic testing for

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Caleca L, Colombo M, van Overeem Hansen T, et al. GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes. Cancers (Basel). 2019;11(2)doi: 10.3390/cancers11020151.
Caleca, L., Colombo, M., van Overeem Hansen, T., Lázaro, C., Manoukian, S., Parsons, M. T., Spurdle, A. B., & Radice, P. (2019). GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes. Cancers, 11(2), . https://doi.org/10.3390/cancers11020151
Caleca, Laura, et al. "GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes." Cancers vol. 11,2 (2019). doi: https://doi.org/10.3390/cancers11020151
Caleca L, Colombo M, van Overeem Hansen T, Lázaro C, Manoukian S, Parsons MT, Spurdle AB, Radice P. GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes. Cancers (Basel). 2019 Jan 28;11(2). doi: 10.3390/cancers11020151. PMID: 30696104; PMCID: PMC6406614.
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Assessing the Role of Selenium in Endometrial Cancer Risk: A Mendelian Randomization Study.

Frontiers in oncology

Kho PF, Glubb DM, Thompson DJ, Spurdle AB, O'Mara TA.
PMID: 30972295
Front Oncol. 2019 Mar 27;9:182. doi: 10.3389/fonc.2019.00182. eCollection 2019.

Endometrial cancer is the most commonly diagnosed gynecological cancer in developed countries. Based on evidence from observational studies which suggest selenium inhibits the development of several cancers (including lung and prostate cancer), selenium supplementation has been touted as a...

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Kho PF, Glubb DM, Thompson DJ, et al. Assessing the Role of Selenium in Endometrial Cancer Risk: A Mendelian Randomization Study. Front Oncol. 2019;9:182doi: 10.3389/fonc.2019.00182.
Kho, P. F., Glubb, D. M., Thompson, D. J., Spurdle, A. B., & O'Mara, T. A. (2019). Assessing the Role of Selenium in Endometrial Cancer Risk: A Mendelian Randomization Study. Frontiers in oncology, 9182. https://doi.org/10.3389/fonc.2019.00182
Kho, Pik Fang, et al. "Assessing the Role of Selenium in Endometrial Cancer Risk: A Mendelian Randomization Study." Frontiers in oncology vol. 9 (2019): 182. doi: https://doi.org/10.3389/fonc.2019.00182
Kho PF, Glubb DM, Thompson DJ, Spurdle AB, O'Mara TA. Assessing the Role of Selenium in Endometrial Cancer Risk: A Mendelian Randomization Study. Front Oncol. 2019 Mar 27;9:182. doi: 10.3389/fonc.2019.00182. eCollection 2019. PMID: 30972295; PMCID: PMC6445879.
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Large-scale cross-cancer fine-mapping of the 5p15.33 region reveals multiple independent signals.

HGG advances

Chen H, Majumdar A, Wang L, Kar S, Brown KM, Feng H, Turman C, Dennis J, Easton D, Michailidou K, Simard J, Bishop T, Cheng IC, Huyghe JR, Schmit SL, O'Mara TA, Spurdle AB, Gharahkhani P, Schumacher J, Jankowski J, Gocke I, Bondy ML, Houlston RS, Jenkins RB, Melin B, Lesseur C, Ness AR, Diergaarde B, Olshan AF, Amos CI, Christiani DC, Landi MT, McKay JD, Brossard M, Iles MM, Law MH, MacGregor S, Beesley J, Jones MR, Tyrer J, Winham SJ, Klein AP, Petersen G, Li D, Wolpin BM, Eeles RA, Haiman CA, Kote-Jarai Z, Schumacher FR, Brennan P, Chanock SJ, Gaborieau V, Purdue MP, Pharoah P, Hung RJ, Amundadottir LT, Kraft P, Pasaniuc B, Lindström S.
PMID: 34355204
HGG Adv. 2021 Jul 08;2(3). doi: 10.1016/j.xhgg.2021.100041. Epub 2021 Jun 12.

Genome-wide association studies (GWASs) have identified thousands of cancer risk loci revealing many risk regions shared across multiple cancers. Characterizing the cross-cancer shared genetic basis can increase our understanding of global mechanisms of cancer development. In this study, we...

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Chen H, Majumdar A, Wang L, et al. Large-scale cross-cancer fine-mapping of the 5p15.33 region reveals multiple independent signals. HGG Adv. 2021;2(3)doi: 10.1016/j.xhgg.2021.100041.
Chen, H., Majumdar, A., Wang, L., Kar, S., Brown, K. M., Feng, H., Turman, C., Dennis, J., Easton, D., Michailidou, K., Simard, J., Bishop, T., Cheng, I. C., Huyghe, J. R., Schmit, S. L., O'Mara, T. A., Spurdle, A. B., Gharahkhani, P., Schumacher, J., Jankowski, J., Gocke, I., Bondy, M. L., Houlston, R. S., Jenkins, R. B., Melin, B., Lesseur, C., Ness, A. R., Diergaarde, B., Olshan, A. F., Amos, C. I., Christiani, D. C., Landi, M. T., McKay, J. D., Brossard, M., Iles, M. M., Law, M. H., MacGregor, S., Beesley, J., Jones, M. R., Tyrer, J., Winham, S. J., Klein, A. P., Petersen, G., Li, D., Wolpin, B. M., Eeles, R. A., Haiman, C. A., Kote-Jarai, Z., Schumacher, F. R., Brennan, P., Chanock, S. J., Gaborieau, V., Purdue, M. P., Pharoah, P., Hung, R. J., Amundadottir, L. T., Kraft, P., Pasaniuc, B., & Lindström, S. (2021). Large-scale cross-cancer fine-mapping of the 5p15.33 region reveals multiple independent signals. HGG advances, 2(3), . https://doi.org/10.1016/j.xhgg.2021.100041
Chen, Hongjie, et al. "Large-scale cross-cancer fine-mapping of the 5p15.33 region reveals multiple independent signals." HGG advances vol. 2,3 (2021). doi: https://doi.org/10.1016/j.xhgg.2021.100041
Chen H, Majumdar A, Wang L, Kar S, Brown KM, Feng H, Turman C, Dennis J, Easton D, Michailidou K, Simard J, Bishop T, Cheng IC, Huyghe JR, Schmit SL, O'Mara TA, Spurdle AB, Gharahkhani P, Schumacher J, Jankowski J, Gocke I, Bondy ML, Houlston RS, Jenkins RB, Melin B, Lesseur C, Ness AR, Diergaarde B, Olshan AF, Amos CI, Christiani DC, Landi MT, McKay JD, Brossard M, Iles MM, Law MH, MacGregor S, Beesley J, Jones MR, Tyrer J, Winham SJ, Klein AP, Petersen G, Li D, Wolpin BM, Eeles RA, Haiman CA, Kote-Jarai Z, Schumacher FR, Brennan P, Chanock SJ, Gaborieau V, Purdue MP, Pharoah P, Hung RJ, Amundadottir LT, Kraft P, Pasaniuc B, Lindström S. Large-scale cross-cancer fine-mapping of the 5p15.33 region reveals multiple independent signals. HGG Adv. 2021 Jul 08;2(3). doi: 10.1016/j.xhgg.2021.100041. Epub 2021 Jun 12. PMID: 34355204; PMCID: PMC8336922.
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An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy.

Human mutation

Fortuno C, Pesaran T, Dolinsky J, Yussuf A, McGoldrick K, Tavtigian SV, Goldgar D, Spurdle AB, James PA.
PMID: 34273903
Hum Mutat. 2021 Oct;42(10):1351-1361. doi: 10.1002/humu.24264. Epub 2021 Aug 04.

Multigene panel testing has led to an increase in the number of variants of uncertain significance identified in the TP53 gene, associated with Li-Fraumeni syndrome. We previously developed a quantitative model for predicting the pathogenicity of P53 missense variants...

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Fortuno C, Pesaran T, Dolinsky J, et al. An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy. Hum Mutat. 2021;42(10):1351-1361doi: 10.1002/humu.24264.
Fortuno, C., Pesaran, T., Dolinsky, J., Yussuf, A., McGoldrick, K., Tavtigian, S. V., Goldgar, D., Spurdle, A. B., & James, P. A. (2021). An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy. Human mutation, 42(10), 1351-1361. https://doi.org/10.1002/humu.24264
Fortuno, Cristina, et al. "An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy." Human mutation vol. 42,10 (2021): 1351-1361. doi: https://doi.org/10.1002/humu.24264
Fortuno C, Pesaran T, Dolinsky J, Yussuf A, McGoldrick K, Tavtigian SV, Goldgar D, Spurdle AB, James PA. An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy. Hum Mutat. 2021 Oct;42(10):1351-1361. doi: 10.1002/humu.24264. Epub 2021 Aug 04. PMID: 34273903.
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Catastrophic chemotherapy toxicity leading to diagnosis of Fanconi anaemia due to .

Journal of medical genetics

Ip E, McNeil C, Grimison P, Scheinberg T, Tudini E, Ho G, Scott RJ, Brown C, Sandroussi C, Guitera P, Spurdle AB, Goodwin A.
PMID: 34697207
J Med Genet. 2021 Oct 25; doi: 10.1136/jmedgenet-2021-108072. Epub 2021 Oct 25.

Fanconi anaemia due to biallelic loss of

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Ip E, McNeil C, Grimison P, et al. Catastrophic chemotherapy toxicity leading to diagnosis of Fanconi anaemia due to . J Med Genet. 2021;doi: 10.1136/jmedgenet-2021-108072.
Ip, E., McNeil, C., Grimison, P., Scheinberg, T., Tudini, E., Ho, G., Scott, R. J., Brown, C., Sandroussi, C., Guitera, P., Spurdle, A. B., & Goodwin, A. (2021). Catastrophic chemotherapy toxicity leading to diagnosis of Fanconi anaemia due to . Journal of medical genetics, . https://doi.org/10.1136/jmedgenet-2021-108072
Ip, Emilia, et al. "Catastrophic chemotherapy toxicity leading to diagnosis of Fanconi anaemia due to ." Journal of medical genetics vol. (2021). doi: https://doi.org/10.1136/jmedgenet-2021-108072
Ip E, McNeil C, Grimison P, Scheinberg T, Tudini E, Ho G, Scott RJ, Brown C, Sandroussi C, Guitera P, Spurdle AB, Goodwin A. Catastrophic chemotherapy toxicity leading to diagnosis of Fanconi anaemia due to . J Med Genet. 2021 Oct 25; doi: 10.1136/jmedgenet-2021-108072. Epub 2021 Oct 25. PMID: 34697207.
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Analysis of Promoter-Associated Chromatin Interactions Reveals Biologically Relevant Candidate Target Genes at Endometrial Cancer Risk Loci.

Cancers

O'Mara TA, Spurdle AB, Glubb DM.
PMID: 31561579
Cancers (Basel). 2019 Sep 26;11(10). doi: 10.3390/cancers11101440.

The identification of target genes at genome-wide association study (GWAS) loci is a major obstacle for GWAS follow-up. To identify candidate target genes at the 16 known endometrial cancer GWAS risk loci, we performed HiChIP chromatin looping analysis of...

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O'Mara TA, Spurdle AB, Glubb DM. Analysis of Promoter-Associated Chromatin Interactions Reveals Biologically Relevant Candidate Target Genes at Endometrial Cancer Risk Loci. Cancers (Basel). 2019;11(10)doi: 10.3390/cancers11101440.
O'Mara, T. A., Spurdle, A. B., Glubb, D. M. (2019). Analysis of Promoter-Associated Chromatin Interactions Reveals Biologically Relevant Candidate Target Genes at Endometrial Cancer Risk Loci. Cancers, 11(10), . https://doi.org/10.3390/cancers11101440
O'Mara, Tracy A, et al. "Analysis of Promoter-Associated Chromatin Interactions Reveals Biologically Relevant Candidate Target Genes at Endometrial Cancer Risk Loci." Cancers vol. 11,10 (2019). doi: https://doi.org/10.3390/cancers11101440
O'Mara TA, Spurdle AB, Glubb DM. Analysis of Promoter-Associated Chromatin Interactions Reveals Biologically Relevant Candidate Target Genes at Endometrial Cancer Risk Loci. Cancers (Basel). 2019 Sep 26;11(10). doi: 10.3390/cancers11101440. PMID: 31561579; PMCID: PMC6826789.
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Suspected clonal hematopoiesis as a natural functional assay of TP53 germline variant pathogenicity.

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

Fortuno C, McGoldrick K, Pesaran T, Dolinsky J, Hoang L, Weitzel JN, Beshay V, San Leong H, James PA, Spurdle AB.
PMID: 34906512
Genet Med. 2021 Nov 30; doi: 10.1016/j.gim.2021.10.018. Epub 2021 Nov 30.

PURPOSE: Some variants identified by multigene panel testing of DNA from blood present with low variant allele fraction (VAF), often a manifestation of clonal hematopoiesis. Research has shown that the proportion of variants with low VAF is especially high...

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Fortuno C, McGoldrick K, Pesaran T, et al. Suspected clonal hematopoiesis as a natural functional assay of TP53 germline variant pathogenicity. Genet Med. 2021;doi: 10.1016/j.gim.2021.10.018.
Fortuno, C., McGoldrick, K., Pesaran, T., Dolinsky, J., Hoang, L., Weitzel, J. N., Beshay, V., San Leong, H., James, P. A., & Spurdle, A. B. (2021). Suspected clonal hematopoiesis as a natural functional assay of TP53 germline variant pathogenicity. Genetics in medicine : official journal of the American College of Medical Genetics, . https://doi.org/10.1016/j.gim.2021.10.018
Fortuno, Cristina, et al. "Suspected clonal hematopoiesis as a natural functional assay of TP53 germline variant pathogenicity." Genetics in medicine : official journal of the American College of Medical Genetics vol. (2021). doi: https://doi.org/10.1016/j.gim.2021.10.018
Fortuno C, McGoldrick K, Pesaran T, Dolinsky J, Hoang L, Weitzel JN, Beshay V, San Leong H, James PA, Spurdle AB. Suspected clonal hematopoiesis as a natural functional assay of TP53 germline variant pathogenicity. Genet Med. 2021 Nov 30; doi: 10.1016/j.gim.2021.10.018. Epub 2021 Nov 30. PMID: 34906512.
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Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome.

The Journal of molecular diagnostics : JMD

Pope BJ, Clendenning M, Rosty C, Mahmood K, Georgeson P, Joo JE, Walker R, Hutchinson RA, Jayasekara H, Joseland S, Como J, Preston S, Spurdle AB, Macrae FA, Win AK, Hopper JL, Jenkins MA, Winship IM, Buchanan DD.
PMID: 33383211
J Mol Diagn. 2021 Mar;23(3):358-371. doi: 10.1016/j.jmoldx.2020.12.003. Epub 2020 Dec 29.

Patients in whom mismatch repair (MMR)-deficient cancer develops in the absence of pathogenic variants of germline MMR genes or somatic hypermethylation of the MLH1 gene promoter are classified as having suspected Lynch syndrome (SLS). Germline whole-genome sequencing (WGS) and...

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Pope BJ, Clendenning M, Rosty C, et al. Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome. J Mol Diagn. 2020;23(3):358-371doi: 10.1016/j.jmoldx.2020.12.003.
Pope, B. J., Clendenning, M., Rosty, C., Mahmood, K., Georgeson, P., Joo, J. E., Walker, R., Hutchinson, R. A., Jayasekara, H., Joseland, S., Como, J., Preston, S., Spurdle, A. B., Macrae, F. A., Win, A. K., Hopper, J. L., Jenkins, M. A., Winship, I. M., & Buchanan, D. D. (2021). Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome. The Journal of molecular diagnostics : JMD, 23(3), 358-371. https://doi.org/10.1016/j.jmoldx.2020.12.003
Pope, Bernard J, et al. "Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome." The Journal of molecular diagnostics : JMD vol. 23,3 (2021): 358-371. doi: https://doi.org/10.1016/j.jmoldx.2020.12.003
Pope BJ, Clendenning M, Rosty C, Mahmood K, Georgeson P, Joo JE, Walker R, Hutchinson RA, Jayasekara H, Joseland S, Como J, Preston S, Spurdle AB, Macrae FA, Win AK, Hopper JL, Jenkins MA, Winship IM, Buchanan DD. Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome. J Mol Diagn. 2021 Mar;23(3):358-371. doi: 10.1016/j.jmoldx.2020.12.003. Epub 2020 Dec 29. PMID: 33383211; PMCID: PMC7927277.
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A Genetic Risk Score to Personalize Prostate Cancer Screening, Applied to Population Data.

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology

Huynh-Le MP, Fan CC, Karunamuni R, Walsh EI, Turner EL, Lane JA, Martin RM, Neal DE, Donovan JL, Hamdy FC, Parsons JK, Eeles RA, Easton DF, Kote-Jarai Z, Amin Al Olama A, Benlloch Garcia S, Muir K, Grönberg H, Wiklund F, Aly M, Schleutker J, Sipeky C, Tammela TL, Nordestgaard BG, Key TJ, Travis RC, Pharoah PDP, Pashayan N, Khaw KT, Thibodeau SN, McDonnell SK, Schaid DJ, Maier C, Vogel W, Luedeke M, Herkommer K, Kibel AS, Cybulski C, Wokolorczyk D, Kluzniak W, Cannon-Albright LA, Brenner H, Schöttker B, Holleczek B, Park JY, Sellers TA, Lin HY, Slavov CK, Kaneva RP, Mitev VI, Batra J, Clements JA, Spurdle AB, Teixeira MR, Paulo P, Maia S, Pandha H, Michael A, Mills IG, Andreassen OA, Dale AM, Seibert TM.
PMID: 32581112
Cancer Epidemiol Biomarkers Prev. 2020 Sep;29(9):1731-1738. doi: 10.1158/1055-9965.EPI-19-1527. Epub 2020 Jun 24.

BACKGROUND: A polygenic hazard score (PHS), the weighted sum of 54 SNP genotypes, was previously validated for association with clinically significant prostate cancer and for improved prostate cancer screening accuracy. Here, we assess the potential impact of PHS-informed screening.METHODS:...

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Huynh-Le MP, Fan CC, Karunamuni R, et al. A Genetic Risk Score to Personalize Prostate Cancer Screening, Applied to Population Data. Cancer Epidemiol Biomarkers Prev. 2020;29(9):1731-1738doi: 10.1158/1055-9965.EPI-19-1527.
Huynh-Le, M. P., Fan, C. C., Karunamuni, R., Walsh, E. I., Turner, E. L., Lane, J. A., Martin, R. M., Neal, D. E., Donovan, J. L., Hamdy, F. C., Parsons, J. K., Eeles, R. A., Easton, D. F., Kote-Jarai, Z., Amin Al Olama, A., Benlloch Garcia, S., Muir, K., Grönberg, H., Wiklund, F., Aly, M., Schleutker, J., Sipeky, C., Tammela, T. L., Nordestgaard, B. G., Key, T. J., Travis, R. C., Pharoah, P. D. P., Pashayan, N., Khaw, K. T., Thibodeau, S. N., McDonnell, S. K., Schaid, D. J., Maier, C., Vogel, W., Luedeke, M., Herkommer, K., Kibel, A. S., Cybulski, C., Wokolorczyk, D., Kluzniak, W., Cannon-Albright, L. A., Brenner, H., Schöttker, B., Holleczek, B., Park, J. Y., Sellers, T. A., Lin, H. Y., Slavov, C. K., Kaneva, R. P., Mitev, V. I., Batra, J., Clements, J. A., Spurdle, A. B., Teixeira, M. R., Paulo, P., Maia, S., Pandha, H., Michael, A., Mills, I. G., Andreassen, O. A., Dale, A. M., Seibert, T. M. (2020). A Genetic Risk Score to Personalize Prostate Cancer Screening, Applied to Population Data. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 29(9), 1731-1738. https://doi.org/10.1158/1055-9965.EPI-19-1527
Huynh-Le, Minh-Phuong, et al. "A Genetic Risk Score to Personalize Prostate Cancer Screening, Applied to Population Data." Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology vol. 29,9 (2020): 1731-1738. doi: https://doi.org/10.1158/1055-9965.EPI-19-1527
Huynh-Le MP, Fan CC, Karunamuni R, Walsh EI, Turner EL, Lane JA, Martin RM, Neal DE, Donovan JL, Hamdy FC, Parsons JK, Eeles RA, Easton DF, Kote-Jarai Z, Amin Al Olama A, Benlloch Garcia S, Muir K, Grönberg H, Wiklund F, Aly M, Schleutker J, Sipeky C, Tammela TL, Nordestgaard BG, Key TJ, Travis RC, Pharoah PDP, Pashayan N, Khaw KT, Thibodeau SN, McDonnell SK, Schaid DJ, Maier C, Vogel W, Luedeke M, Herkommer K, Kibel AS, Cybulski C, Wokolorczyk D, Kluzniak W, Cannon-Albright LA, Brenner H, Schöttker B, Holleczek B, Park JY, Sellers TA, Lin HY, Slavov CK, Kaneva RP, Mitev VI, Batra J, Clements JA, Spurdle AB, Teixeira MR, Paulo P, Maia S, Pandha H, Michael A, Mills IG, Andreassen OA, Dale AM, Seibert TM. A Genetic Risk Score to Personalize Prostate Cancer Screening, Applied to Population Data. Cancer Epidemiol Biomarkers Prev. 2020 Sep;29(9):1731-1738. doi: 10.1158/1055-9965.EPI-19-1527. Epub 2020 Jun 24. PMID: 32581112; PMCID: PMC7483627.
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Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars.

Human mutation

Canson D, Glubb D, Spurdle AB.
PMID: 32623769
Hum Mutat. 2020 Oct;41(10):1705-1721. doi: 10.1002/humu.24074. Epub 2020 Jul 17.

It is possible to estimate the prior probability of pathogenicity for germline disease gene variants based on bioinformatic prediction of variant effect/s. However, routinely used approaches have likely led to the underestimation and underreporting of variants located outside donor...

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Canson D, Glubb D, Spurdle AB. Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars. Hum Mutat. 2020;41(10):1705-1721doi: 10.1002/humu.24074.
Canson, D., Glubb, D., & Spurdle, A. B. (2020). Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars. Human mutation, 41(10), 1705-1721. https://doi.org/10.1002/humu.24074
Canson, Daffodil, et al. "Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars." Human mutation vol. 41,10 (2020): 1705-1721. doi: https://doi.org/10.1002/humu.24074
Canson D, Glubb D, Spurdle AB. Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars. Hum Mutat. 2020 Oct;41(10):1705-1721. doi: 10.1002/humu.24074. Epub 2020 Jul 17. PMID: 32623769.
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Expressions of Grief in Online Discussion Forums-Linguistic Similarities and Differences in Pet and Human Bereavement.

Omega

Lyons M, Floyd K, McCray H, Peddie C, Spurdle K, Tlusty A, Watkinson C, Brewer G.
PMID: 32249671
Omega (Westport). 2020 Apr 04;30222820914678. doi: 10.1177/0030222820914678. Epub 2020 Apr 04.

We compared online discussion forum posts related to pet loss to those related to human bereavement. Posts (

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Lyons M, Floyd K, McCray H, et al. Expressions of Grief in Online Discussion Forums-Linguistic Similarities and Differences in Pet and Human Bereavement. Omega (Westport). 2020;30222820914678doi: 10.1177/0030222820914678.
Lyons, M., Floyd, K., McCray, H., Peddie, C., Spurdle, K., Tlusty, A., Watkinson, C., & Brewer, G. (2020). Expressions of Grief in Online Discussion Forums-Linguistic Similarities and Differences in Pet and Human Bereavement. Omega, 30222820914678. https://doi.org/10.1177/0030222820914678
Lyons, Minna, et al. "Expressions of Grief in Online Discussion Forums-Linguistic Similarities and Differences in Pet and Human Bereavement." Omega vol. (2020): 30222820914678. doi: https://doi.org/10.1177/0030222820914678
Lyons M, Floyd K, McCray H, Peddie C, Spurdle K, Tlusty A, Watkinson C, Brewer G. Expressions of Grief in Online Discussion Forums-Linguistic Similarities and Differences in Pet and Human Bereavement. Omega (Westport). 2020 Apr 04;30222820914678. doi: 10.1177/0030222820914678. Epub 2020 Apr 04. PMID: 32249671.
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Correction: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers.

European journal of human genetics : EJHG

Walker LC, Marquart L, Pearson JF, Wiggins GAR, O'Mara TA, Parsons MT, Barrowdale D, McGuffog L, Dennis J, Benitez J, Slavin TP, Radice P, Frost D, Godwin AK, Meindl A, Schmutzler RK, Isaacs C, Peshkin BN, Caldes T, Hogervorst FBL, Lazaro C, Jakubowska A, Montagna M, Chen X, Offit K, Hulick PJ, Andrulis IL, Lindblom A, Nussbaum RL, Nathanson KL, Chenevix-Trench G, Antoniou AC, Couch FJ, Spurdle AB.
PMID: 30135485
Eur J Hum Genet. 2019 Jan;27(1):167-168. doi: 10.1038/s41431-018-0216-1.

This Article was originally published under a CC BY-NC-SA 4.0 license, but has now been made available under a CC BY 4.0 license. The PDF and HTML versions of the Article have been modified accordingly.

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Walker LC, Marquart L, Pearson JF, et al. Correction: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers. Eur J Hum Genet. 2019;27(1):167-168doi: 10.1038/s41431-018-0216-1.
Walker, L. C., Marquart, L., Pearson, J. F., Wiggins, G. A. R., O'Mara, T. A., Parsons, M. T., Barrowdale, D., McGuffog, L., Dennis, J., Benitez, J., Slavin, T. P., Radice, P., Frost, D., Godwin, A. K., Meindl, A., Schmutzler, R. K., Isaacs, C., Peshkin, B. N., Caldes, T., Hogervorst, F. B. L., Lazaro, C., Jakubowska, A., Montagna, M., Chen, X., Offit, K., Hulick, P. J., Andrulis, I. L., Lindblom, A., Nussbaum, R. L., Nathanson, K. L., Chenevix-Trench, G., Antoniou, A. C., Couch, F. J., & Spurdle, A. B. (2019). Correction: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers. European journal of human genetics : EJHG, 27(1), 167-168. https://doi.org/10.1038/s41431-018-0216-1
Walker, Logan C, et al. "Correction: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers." European journal of human genetics : EJHG vol. 27,1 (2019): 167-168. doi: https://doi.org/10.1038/s41431-018-0216-1
Walker LC, Marquart L, Pearson JF, Wiggins GAR, O'Mara TA, Parsons MT, Barrowdale D, McGuffog L, Dennis J, Benitez J, Slavin TP, Radice P, Frost D, Godwin AK, Meindl A, Schmutzler RK, Isaacs C, Peshkin BN, Caldes T, Hogervorst FBL, Lazaro C, Jakubowska A, Montagna M, Chen X, Offit K, Hulick PJ, Andrulis IL, Lindblom A, Nussbaum RL, Nathanson KL, Chenevix-Trench G, Antoniou AC, Couch FJ, Spurdle AB. Correction: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers. Eur J Hum Genet. 2019 Jan;27(1):167-168. doi: 10.1038/s41431-018-0216-1. PMID: 30135485; PMCID: PMC6303246.
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