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Page 1
Genome sequence of Arthrobacter globiformis phage MaGuCo.
Diggins AE, Gubitose MG, Hinrichsen EG, Jones PT, Kearns BS, Lord CE, Parsons MT, Pitt RA, Woods IA, Zarakotas TR, Wilkes BM. Diggins AE, et al. Among authors: parsons mt. Microbiol Resour Announc. 2024 Mar 12;13(3):e0117923. doi: 10.1128/mra.01179-23. Epub 2024 Feb 20. Microbiol Resour Announc. 2024. PMID: 38376341 Free PMC article.
Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant.
Block I, Mateu-Regué À, Do TTN, Miceikaite I, Sdogati D, Larsen MJ, Hao Q, Nielsen HR, Boonen SE, Skytte AB, Jensen UB, Høffding LK, De Nicolo A, Viel A, Tudini E, Parsons MT, Hansen TVO, Rossing M, Kruse TA, Spurdle AB, Thomassen M. Block I, et al. Among authors: parsons mt. Breast Cancer Res. 2024 Jan 9;26(1):6. doi: 10.1186/s13058-023-01755-9. Breast Cancer Res. 2024. PMID: 38195559 Free PMC article.
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.
Davidson AL, Dressel U, Norris S, Canson DM, Glubb DM, Fortuno C, Hollway GE, Parsons MT, Vidgen ME, Holmes O, Koufariotis LT, Lakis V, Leonard C, Wood S, Xu Q, McCart Reed AE, Pickett HA, Al-Shinnag MK, Austin RL, Burke J, Cops EJ, Nichols CB, Goodwin A, Harris MT, Higgins MJ, Ip EL, Kiraly-Borri C, Lau C, Mansour JL, Millward MW, Monnik MJ, Pachter NS, Ragunathan A, Susman RD, Townshend SL, Trainer AH, Troth SL, Tucker KM, Wallis MJ, Walsh M, Williams RA, Winship IM, Newell F, Tudini E, Pearson JV, Poplawski NK, Mar Fan HG, James PA, Spurdle AB, Waddell N, Ward RL. Davidson AL, et al. Among authors: parsons mt. Genome Med. 2023 Sep 19;15(1):74. doi: 10.1186/s13073-023-01223-1. Genome Med. 2023. PMID: 37723522 Free PMC article.
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: parsons mt. 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.
PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants.
Muranen TA, Morra A, Khan S, Barnes DR, Bolla MK, Dennis J, Keeman R, Leslie G, Parsons MT, Wang Q, Ahearn TU, Aittomäki K, Andrulis IL, Arun BK, Behrens S, Bialkowska K, Bojesen SE, Camp NJ, Chang-Claude J, Czene K, Devilee P; HEBON investigators; Domchek SM, Dunning AM, Engel C, Evans DG, Gago-Dominguez M, García-Closas M, Gerdes AM, Glendon G, Guénel P, Hahnen E, Hamann U, Hanson H, Hooning MJ, Hoppe R, Izatt L, Jakubowska A, James PA, Kristensen VN, Lalloo F, Lindeman GJ, Mannermaa A, Margolin S, Neuhausen SL, Newman WG, Peterlongo P, Phillips KA, Pujana MA, Rantala J, Rønlund K, Saloustros E, Schmutzler RK, Schneeweiss A, Singer CF, Suvanto M, Tan YY, Teixeira MR, Thomassen M, Tischkowitz M, Tripathi V, Wappenschmidt B, Zhao E, Easton DF, Antoniou AC, Chenevix-Trench G, Pharoah PDP, Schmidt MK, Blomqvist C, Nevanlinna H. Muranen TA, et al. Among authors: parsons mt. NPJ Breast Cancer. 2023 May 12;9(1):37. doi: 10.1038/s41523-023-00546-x. NPJ Breast Cancer. 2023. PMID: 37173335 Free PMC article.
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2.
O'Mahony DG, Ramus SJ, Southey MC, Meagher NS, Hadjisavvas A, John EM, Hamann U, Imyanitov EN, Andrulis IL, Sharma P, Daly MB, Hake CR, Weitzel JN, Jakubowska A, Godwin AK, Arason A, Bane A, Simard J, Soucy P, Caligo MA, Mai PL, Claes KBM, Teixeira MR, Chung WK, Lazaro C, Hulick PJ, Toland AE, Pedersen IS; HEBON Investigators; Neuhausen SL, Vega A, de la Hoya M, Nevanlinna H, Dhawan M, Zampiga V, Danesi R, Varesco L, Gismondi V, Vellone VG, James PA, Janavicius R, Nikitina-Zake L, Nielsen FC, van Overeem Hansen T, Pejovic T, Borg A, Rantala J, Offit K, Montagna M, Nathanson KL, Domchek SM, Osorio A, García MJ, Karlan BY; GEMO Study Collaborators; De Fazio A, Bowtell D; AOCS Group; McGuffog L, Leslie G, Parsons MT, Dörk T, Speith LM, Dos Santos ES, da Costa AABA, Radice P, Peterlongo P, Papi L, Engel C, Hahnen E, Schmutzler RK, Wappenschmidt B, Easton DF, Tischkowitz M, Singer CF, Tan YY, Whittemore AS, Sieh W, Brenton JD, Yannoukakos D, Fostira F, Konstantopoulou I, Soukupova J, Vocka M; CZECANCA Consortium; Chenevix-Trench G, Pharoah PDP, Antoniou AC, Goldgar DE, Spurdle AB, Michailidou K; Consortium of Investigators of Modifiers of BRCA1/2; Evidence-based Network for the … See abstract for full author list ➔ O'Mahony DG, et al. Among authors: parsons mt. Br J Cancer. 2023 Jun;128(12):2283-2294. doi: 10.1038/s41416-023-02263-5. Epub 2023 Apr 19. Br J Cancer. 2023. PMID: 37076566 Free PMC 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: parsons mt. medRxiv [Preprint]. 2023 Feb 26:2023.02.24.23286431. doi: 10.1101/2023.02.24.23286431. medRxiv. 2023. PMID: 36865205 Free PMC article. Updated. Preprint.
The splicing effect of variants at branchpoint elements in cancer genes.
Canson DM, Dumenil T, Parsons MT, O'Mara TA, Davidson AL, Okano S, Signal B, Mercer TR, Glubb DM, Spurdle AB. Canson DM, et al. Among authors: parsons mt. Genet Med. 2023 Jan;25(1):166. doi: 10.1016/j.gim.2022.11.015. Genet Med. 2023. PMID: 36609150 Free article. No abstract available.
119 results