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Did you mean carson d (1,122 results)?
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.
Walker LC, Hoya M, Wiggins GAR, Lindy A, Vincent LM, Parsons MT, Canson DM, Bis-Brewer D, Cass A, Tchourbanov A, Zimmermann H, Byrne AB, Pesaran T, Karam R, Harrison SM, Spurdle AB; ClinGen Sequence Variant Interpretation Working Group. Walker LC, et al. Among authors: canson dm. Am J Hum Genet. 2023 Jul 6;110(7):1046-1067. doi: 10.1016/j.ajhg.2023.06.002. Epub 2023 Jun 22. Am J Hum Genet. 2023. PMID: 37352859 Free PMC article.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Bournazos AM, Riley LG, Bommireddipalli S, Ades L, Akesson LS, Al-Shinnag M, Alexander SI, Archibald AD, Balasubramaniam S, Berman Y, Beshay V, Boggs K, Bojadzieva J, Brown NJ, Bryen SJ, Buckley MF, Chong B, Davis MR, Dawes R, Delatycki M, Donaldson L, Downie L, Edwards C, Edwards M, Engel A, Ewans LJ, Faiz F, Fennell A, Field M, Freckmann ML, Gallacher L, Gear R, Goel H, Goh S, Goodwin L, Hanna B, Harraway J, Higgins M, Ho G, Hopper BK, Horton AE, Hunter MF, Huq AJ, Josephi-Taylor S, Joshi H, Kirk E, Krzesinski E, Kumar KR, Lemckert F, Leventer RJ, Lindsey-Temple SE, Lunke S, Ma A, Macaskill S, Mallawaarachchi A, Marty M, Marum JE, McCarthy HJ, Menezes MP, McLean A, Milnes D, Mohammad S, Mowat D, Niaz A, Palmer EE, Patel C, Patel SG, Phelan D, Pinner JR, Rajagopalan S, Regan M, Rodgers J, Rodrigues M, Roxburgh RH, Sachdev R, Roscioli T, Samarasekera R, Sandaradura SA, Savva E, Schindler T, Shah M, Sinnerbrink IB, Smith JM, Smith RJ, Springer A, Stark Z, Strom SP, Sue CM, Tan K, Tan TY, Tantsis E, Tchan MC, Thompson BA, Trainer AH, van Spaendonck-Zwarts K, Walsh R, Warwick L, White S, White SM, Williams MG, Wilson MJ, Wong WK, Wright DC, Yap P, Yeung A, Young H, Jones KJ, Bennetts… See abstract for full author list ➔ Bournazos AM, et al. Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906502 Free article.
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Walker LC, de la Hoya M, Wiggins GAR, Lindy A, Vincent LM, Parsons MT, Canson DM, Bis-Brewer D, Cass A, Tchourbanov A, Zimmermann H, Byrne AB, Pesaran T, Karam R, Harrison S, Spurdle AB. Walker LC, et al. Among authors: canson dm. medRxiv [Preprint]. 2023 Feb 26:2023.02.24.23286431. doi: 10.1101/2023.02.24.23286431. medRxiv. 2023. Update in: Am J Hum Genet. 2023 Jul 6;110(7):1046-1067. doi: 10.1016/j.ajhg.2023.06.002. PMID: 36865205 Free PMC article. Updated. Preprint.
Multi-tissue expression and splicing data prioritise anatomical subsite- and sex-specific colorectal cancer susceptibility genes.
Hazelwood E, Canson DM, Deslandes B, Wang X, Kho PF, Legge D, Constantinescu AE, Lee MA, Bishop DT, Chan AT, Gruber SB, Hampe J, Le Marchand L, Woods MO, Pai RK, Schmit SL, Figueiredo JC, Zheng W, Huyghe JR, Murphy N, Gunter MJ, Richardson TG, Whitehall VLJ, Vincent EE, Glubb DM, O'Mara TA. Hazelwood E, et al. Among authors: canson dm. Nat Commun. 2025 May 30;16(1):5043. doi: 10.1038/s41467-025-60275-6. Nat Commun. 2025. PMID: 40447568 Free PMC article.
GWAS meta-analysis identifies five susceptibility loci for endometrial cancer.
Ramachandran D, Wang X, Laisk T, Zheng Y, Ingold N, Canson DM, Kho PF, Naumann BJ, Chapman CJ, Bousset K, Krause AV, Schürmann P, Wieland B, Hanel P, Hülse F, Häfner N, Runnebaum I, Dubrowinskaja N, Turmanov N, Yugay T, Yessimsiitova ZB, Amant F, Annibali D, Beckmann MW, Bodelon C, Buchanan DD, Chen C, Clarke MA, Cook LS, De Vivo I, De Wispelaere W, Du M, Easton DF, Emons J, Fasching PA, Friedenreich CM, Gallagher G, Giles GG, Goode EL, Harris HR, Hunter DJ, Kolin DL, Kraft P, Lacey JV, Lambrechts D, Lu L, Mutter GL, Naduparambil J, O'Connell K, Patel AV, Pharoah PDP, Rebbeck TR, Ricceri F, Risch HA, Ruebner M, Sacerdote C, Scott RJ, Setiawan VW, Shu XO, Southey MC, Tham E, Tomlinson I, Turman C, Wentzensen N, Xu W, Yu H, Zheng W, Spurdle AB, Yarden Y; Estonian Biobank Research Team; Mägi R, Hillemanns P, Glubb DM, Dörk T, O'Mara TA. Ramachandran D, et al. Among authors: canson dm. EBioMedicine. 2025 Aug;118:105830. doi: 10.1016/j.ebiom.2025.105830. Epub 2025 Jul 8. EBioMedicine. 2025. PMID: 40633141 Free PMC article.
Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.
Johnatty SE, Tudini E, Parsons MT, Michailidou K, Zanti M, Canson D, Davidson AL, Berger T, Rosti RO, Kratz CP, Kalb R, McReynolds LJ, Giri N, Richardson M, Pesaran T, Surrallés J, Pujol R, Vundinti BR, George M, Maxwell KN, Nathanson K, Domchek S, Fiesco-Roa MÓ, Frias S, Garcia-de-Teresa B, Jongmans M, Lalani S, Maiburg M, Prescott K, Robinson R, Rajagopalan S, Blok LS, Temple SEL, Tucker K, Auerbach AD, Cancio MI, Kennedy JA, MacMillan ML, Tryon R, Wagner JE, Walsh M, Boddicker NJ, Hu C, Weitzel JN, Dingemans AJM, Hadler J, Rotenberg N, Ramadane-Morchadi L, de la Hoya M, James P, Van Overeem Hansen T, Vreeswijk MPG, Walker LC, Sharan SK, Easton DF, Couch F, Smogorzewska A, Nelson A, Ngeow J, Tischkowitz M, Gomez-Garcia E, Spurdle AB. Johnatty SE, et al. Among authors: canson d. medRxiv [Preprint]. 2025 May 26:2025.05.25.25327887. doi: 10.1101/2025.05.25.25327887. medRxiv. 2025. PMID: 40568666 Free PMC article. Preprint.
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