Caitlin T Fierheller, Wejdan M Alenezi, Patricia N Tonin. Cancers (Basel) 2021
Times Cited: 4
Times Cited: 4
Times Cited
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A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.
Jannah Shamsani, Stephen H Kazakoff, Irina M Armean, Will McLaren, Michael T Parsons, Bryony A Thompson, Tracy A O'Mara, Sarah E Hunt, Nicola Waddell, Amanda B Spurdle. Bioinformatics 2019
Jannah Shamsani, Stephen H Kazakoff, Irina M Armean, Will McLaren, Michael T Parsons, Bryony A Thompson, Tracy A O'Mara, Sarah E Hunt, Nicola Waddell, Amanda B Spurdle. Bioinformatics 2019
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Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines.
Rajarshi Ghosh, Ninad Oak, Sharon E Plon. Genome Biol 2017
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Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma.
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The mutational constraint spectrum quantified from variation in 141,456 humans.
Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Jessica Alföldi, Qingbo Wang, Ryan L Collins, Kristen M Laricchia, Andrea Ganna, Daniel P Birnbaum,[...]. Nature 2020
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Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer: a proof-of-concept trial.
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M William Audeh, James Carmichael, Richard T Penson, Michael Friedlander, Bethan Powell, Katherine M Bell-McGuinn, Clare Scott, Jeffrey N Weitzel, Ana Oaknin, Niklas Loman,[...]. Lancet 2010
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Reference-based phasing using the Haplotype Reference Consortium panel.
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Po-Ru Loh, Petr Danecek, Pier Francesco Palamara, Christian Fuchsberger, Yakir A Reshef, Hilary K Finucane, Sebastian Schoenherr, Lukas Forer, Shane McCarthy, Goncalo R Abecasis,[...]. Nat Genet 2016
50
Olaparib maintenance therapy in patients with platinum-sensitive relapsed serous ovarian cancer: a preplanned retrospective analysis of outcomes by BRCA status in a randomised phase 2 trial.
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High-throughput carrier screening using TaqMan allelic discrimination.
Anastasia Fedick, Jing Su, Chaim Jalas, Lesley Northrop, Batsal Devkota, Josef Ekstein, Nathan R Treff. PLoS One 2013
Anastasia Fedick, Jing Su, Chaim Jalas, Lesley Northrop, Batsal Devkota, Josef Ekstein, Nathan R Treff. PLoS One 2013
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Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers.
Karoline B Kuchenbaecker, John L Hopper, Daniel R Barnes, Kelly-Anne Phillips, Thea M Mooij, Marie-José Roos-Blom, Sarah Jervis, Flora E van Leeuwen, Roger L Milne, Nadine Andrieu,[...]. JAMA 2017
Karoline B Kuchenbaecker, John L Hopper, Daniel R Barnes, Kelly-Anne Phillips, Thea M Mooij, Marie-José Roos-Blom, Sarah Jervis, Flora E van Leeuwen, Roger L Milne, Nadine Andrieu,[...]. JAMA 2017
50
Contribution of the PALB2 c.2323C>T [p.Q775X] founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian descent.
Marc Tischkowitz, Nelly Sabbaghian, Nancy Hamel, Carly Pouchet, William D Foulkes, Anne-Marie Mes-Masson, Diane M Provencher, Patricia N Tonin. BMC Med Genet 2013
Marc Tischkowitz, Nelly Sabbaghian, Nancy Hamel, Carly Pouchet, William D Foulkes, Anne-Marie Mes-Masson, Diane M Provencher, Patricia N Tonin. BMC Med Genet 2013
50
ClinVar: improving access to variant interpretations and supporting evidence.
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Cohort profile of the CARTaGENE study: Quebec's population-based biobank for public health and personalized genomics.
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Germline mutations in RAD51D confer susceptibility to ovarian cancer.
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CADD: predicting the deleteriousness of variants throughout the human genome.
Philipp Rentzsch, Daniela Witten, Gregory M Cooper, Jay Shendure, Martin Kircher. Nucleic Acids Res 2019
Philipp Rentzsch, Daniela Witten, Gregory M Cooper, Jay Shendure, Martin Kircher. Nucleic Acids Res 2019
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Identifying a high fraction of the human genome to be under selective constraint using GERP++.
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Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families.
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BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.
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Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women.
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Pathology update to the Manchester Scoring System based on testing in over 4000 families.
D Gareth Evans, Elaine F Harkness, Inga Plaskocinska, Andrew J Wallace, Tara Clancy, Emma R Woodward, Tony A Howell, Marc Tischkowitz, Fiona Lalloo. J Med Genet 2017
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Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families.
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REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.
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Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies.
Chengliang Dong, Peng Wei, Xueqiu Jian, Richard Gibbs, Eric Boerwinkle, Kai Wang, Xiaoming Liu. Hum Mol Genet 2015
Chengliang Dong, Peng Wei, Xueqiu Jian, Richard Gibbs, Eric Boerwinkle, Kai Wang, Xiaoming Liu. Hum Mol Genet 2015
50
In silico prediction of splice-altering single nucleotide variants in the human genome.
Xueqiu Jian, Eric Boerwinkle, Xiaoming Liu. Nucleic Acids Res 2014
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Significant proportion of breast and/or ovarian cancer families of French Canadian descent harbor 1 of 5 BRCA1 and BRCA2 mutations.
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Ovarian cancer.
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Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.
Abel González-Pérez, Nuria López-Bigas. Am J Hum Genet 2011
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Population history and its impact on medical genetics in Quebec.
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Olaparib monotherapy in patients with advanced cancer and a germline BRCA1/2 mutation.
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Efficient haplotype matching and storage using the positional Burrows-Wheeler transform (PBWT).
Richard Durbin. Bioinformatics 2014
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A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor.
Amélie Rodrigue, Guillaume Margaillan, Thiago Torres Gomes, Yan Coulombe, Gemma Montalban, Simone da Costa E Silva Carvalho, Larissa Milano, Mandy Ducy, Giuliana De-Gregoriis, Graham Dellaire,[...]. Nucleic Acids Res 2019
Amélie Rodrigue, Guillaume Margaillan, Thiago Torres Gomes, Yan Coulombe, Gemma Montalban, Simone da Costa E Silva Carvalho, Larissa Milano, Mandy Ducy, Giuliana De-Gregoriis, Graham Dellaire,[...]. Nucleic Acids Res 2019
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50
Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D.
Xin Yang, Honglin Song, Goska Leslie, Christoph Engel, Eric Hahnen, Bernd Auber, Judit Horváth, Karin Kast, Dieter Niederacher, Clare Turnbull,[...]. J Natl Cancer Inst 2020
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Founder BRCA1 and BRCA2 mutations in French Canadian ovarian cancer cases unselected for family history.
P N Tonin, A M Mes-Masson, S A Narod, P Ghadirian, D Provencher. Clin Genet 1999
P N Tonin, A M Mes-Masson, S A Narod, P Ghadirian, D Provencher. Clin Genet 1999
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A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO.
D G R Evans, D M Eccles, N Rahman, K Young, M Bulman, E Amir, A Shenton, A Howell, F Lalloo. J Med Genet 2004
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A targeted analysis identifies a high frequency of BRCA1 and BRCA2 mutation carriers in women with ovarian cancer from a founder population.
Moria H Belanger, Lena Dolman, Suzanna L Arcand, Zhen Shen, George Chong, Anne-Marie Mes-Masson, Diane Provencher, Patricia N Tonin. J Ovarian Res 2015
Moria H Belanger, Lena Dolman, Suzanna L Arcand, Zhen Shen, George Chong, Anne-Marie Mes-Masson, Diane Provencher, Patricia N Tonin. J Ovarian Res 2015
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Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR.
Hui Yang, Kai Wang. Nat Protoc 2015
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Comprehensive BRCA1 and BRCA2 mutation analyses and review of French Canadian families with at least three cases of breast cancer.
Luca Cavallone, Suzanna L Arcand, Christine M Maugard, Serge Nolet, Louis A Gaboury, Anne-Marie Mes-Masson, Parviz Ghadirian, Diane Provencher, Patricia N Tonin. Fam Cancer 2010
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Familial Risk and Heritability of Cancer Among Twins in Nordic Countries.
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Olaparib tablets as maintenance therapy in patients with platinum-sensitive, relapsed ovarian cancer and a BRCA1/2 mutation (SOLO2/ENGOT-Ov21): a double-blind, randomised, placebo-controlled, phase 3 trial.
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Poly(ADP)-ribose polymerase inhibition: frequent durable responses in BRCA carrier ovarian cancer correlating with platinum-free interval.
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Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene.
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Nonsense-mediated mRNA decay in humans at a glance.
Tatsuaki Kurosaki, Lynne E Maquat. J Cell Sci 2016
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dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs.
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NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020.
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Effective variant filtering and expected candidate variant yield in studies of rare human disease.
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Hereditary breast and ovarian cancer: new genes in confined pathways.
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Rare Germline Genetic Variants and the Risks of Epithelial Ovarian Cancer.
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A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.
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Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.