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Identification of six new susceptibility loci for invasive epithelial ovarian cancer.
Kuchenbaecker KB, Ramus SJ, Tyrer J, Lee A, Shen HC, Beesley J, Lawrenson K, McGuffog L, Healey S, Lee JM, Spindler TJ, Lin YG, Pejovic T, Bean Y, Li Q, Coetzee S, Hazelett D, Miron A, Southey M, Terry MB, Goldgar DE, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Neuhausen SL, Ding YC, Hansen TV, Jønson L, Gerdes AM, Ejlertsen B, Barrowdale D, Dennis J, Benitez J, Osorio A, Garcia MJ, Komenaka I, Weitzel JN, Ganschow P, Peterlongo P, Bernard L, Viel A, Bonanni B, Peissel B, Manoukian S, Radice P, Papi L, Ottini L, Fostira F, Konstantopoulou I, Garber J, Frost D, Perkins J, Platte R, Ellis S; EMBRACE; Godwin AK, Schmutzler RK, Meindl A, Engel C, Sutter C, Sinilnikova OM; GEMO Study Collaborators; Damiola F, Mazoyer S, Stoppa-Lyonnet D, Claes K, De Leeneer K, Kirk J, Rodriguez GC, Piedmonte M, O'Malley DM, de la Hoya M, Caldes T, Aittomäki K, Nevanlinna H, Collée JM, Rookus MA, Oosterwijk JC; Breast Cancer Family Registry; Tihomirova L, Tung N, Hamann U, Isaccs C, Tischkowitz M, Imyanitov EN, Caligo MA, Campbell IG, Hogervorst FB; HEBON; Olah E, Diez O, Blanco I, Brunet J, Lazaro C, Pujana MA, Jakubowska A, Gronwald J, Lubinski J, Sukiennicki G, Barkardottir RB, Plante M, Sim… See abstract for full author list ➔ Kuchenbaecker KB, et al. Among authors: jensen a, jensen ub. Nat Genet. 2015 Feb;47(2):164-71. doi: 10.1038/ng.3185. Epub 2015 Jan 12. Nat Genet. 2015. PMID: 25581431 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: jensen ub. 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.
Enhanced production of mesencephalic dopaminergic neurons from lineage-restricted human undifferentiated stem cells.
Maimaitili M, Chen M, Febbraro F, Ucuncu E, Kelly R, Niclis JC, Christiansen JR, Mermet-Joret N, Niculescu D, Lauritsen J, Iannielli A, Klæstrup IH, Jensen UB, Qvist P, Nabavi S, Broccoli V, Nykjær A, Romero-Ramos M, Denham M. Maimaitili M, et al. Among authors: jensen ub. Nat Commun. 2023 Dec 5;14(1):7871. doi: 10.1038/s41467-023-43471-0. Nat Commun. 2023. PMID: 38052784 Free PMC article.
Author Correction: Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes.
Møller NB, Boonen DS, Feldner ES, Hao Q, Larsen M, Lænkholm AV, Borg Å, Kvist A, Törngren T, Jensen UB, Boonen SE, Thomassen M, Terkelsen T. Møller NB, et al. Among authors: jensen ub. Sci Rep. 2023 Sep 15;13(1):15294. doi: 10.1038/s41598-023-42606-z. Sci Rep. 2023. PMID: 37714994 Free PMC article. No abstract available.
Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe - A multi-professional survey study.
Koido K, Malmgren CI, Pojskic L, Almos PZ, Bergen SE, Borg I, Božina N, Coviello DA, Degenhardt F, Ganoci L, Jensen UB, Durand-Lennad L, Laurent-Levinson C, McQuillin A, Navickas A, Pace NP, Paneque M, Rietschel M, Grigoroiu-Serbanescu M, Soller MJ, Suvisaari J, Utkus A, Van Assche E, Vissouze L, Zuckerman S, Chaumette B, Tammimies K. Koido K, et al. Among authors: jensen ub. Eur J Med Genet. 2023 Aug;66(8):104805. doi: 10.1016/j.ejmg.2023.104805. Epub 2023 Jul 3. Eur J Med Genet. 2023. PMID: 37406854 Free article.
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Thomassen M, Mesman RLS, Hansen TVO, Menendez M, Rossing M, Esteban-Sánchez A, Tudini E, Törngren T, Parsons MT, Pedersen IS, Teo SH, Kruse TA, Møller P, Borg Å, Jensen UB, Christensen LL, Singer CF, Muhr D, Santamarina M, Brandao R, Andresen BS, Feng BJ, Canson D, Richardson ME, Karam R, Pesaran T, LaDuca H, Conner BR, Abualkheir N, Hoang L, Calléja FMGR, Andrews L, James PA, Bunyan D, Hamblett A, Radice P, Goldgar DE, Walker LC, Engel C, Claes KBM, Macháčková E, Baralle D, Viel A, Wappenschmidt B, Lazaro C, Vega A; ENIGMA Consortium; Vreeswijk MPG, de la Hoya M, Spurdle AB. Thomassen M, et al. Among authors: jensen ub. Hum Mutat. 2022 Dec;43(12):1921-1944. doi: 10.1002/humu.24449. Epub 2022 Oct 23. Hum Mutat. 2022. PMID: 35979650 Free PMC article.
152 results