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Page 1
Assessing women's preferences towards tests that may reveal uncertain results from prenatal genomic testing: Development of attributes for a discrete choice experiment, using a mixed-methods design.
Hammond J, Klapwijk JE, Riedijk S, Lou S, Ormond KE, Vogel I, Hui L, Sziepe EJ, Buchanan J, Ingvoldstad-Malmgren C, Soller MJ, Harding E, Hill M, Lewis C. Hammond J, et al. Among authors: soller mj. PLoS One. 2022 Jan 28;17(1):e0261898. doi: 10.1371/journal.pone.0261898. eCollection 2022. PLoS One. 2022. PMID: 35089945 Free PMC article. Clinical Trial.
Factors that impact on women's decision-making around prenatal genomic tests: An international discrete choice survey.
Buchanan J, Hill M, Vass CM, Hammond J, Riedijk S, Klapwijk JE, Harding E, Lou S, Vogel I, Hui L, Ingvoldstad-Malmgren C, Soller MJ, Ormond KE, Choolani M, Zheng Q, Chitty LS, Lewis C. Buchanan J, et al. Among authors: soller mj. Prenat Diagn. 2022 Jun;42(7):934-946. doi: 10.1002/pd.6159. Epub 2022 Apr 30. Prenat Diagn. 2022. PMID: 35476801 Free PMC article. Review.
Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting: An international cross-sectional study with healthcare professionals.
Lewis C, Hammond J, Klapwijk JE, Harding E, Lou S, Vogel I, Szepe EJ, Hui L, Ingvoldstad-Malmgren C, Soller MJ, Ormond KE, Choolani M, Hill M, Riedijk S. Lewis C, et al. Among authors: soller mj. Prenat Diagn. 2021 May;41(6):720-732. doi: 10.1002/pd.5932. Epub 2021 Mar 30. Prenat Diagn. 2021. PMID: 33724493 Free PMC article.
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, Chitty LS, Fellmann F, Forzano F, Hall A, Henneman L, Howard HC, Lucassen A, Ormond K, Peterlin B, Radojkovic D, Rogowski W, Soller M, Tibben A, Tranebjærg L, van El CG, Cornel MC; European Society of Human Genetics; American Society of Human Genetics. Dondorp W, et al. Eur J Hum Genet. 2015 Nov;23(11):1438-50. doi: 10.1038/ejhg.2015.57. Epub 2015 Mar 18. Eur J Hum Genet. 2015. PMID: 25782669 Free PMC article.
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations.
Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, Chitty LS, Fellmann F, Forzano F, Hall A, Henneman L, Howard HC, Lucassen A, Ormond K, Peterlin B, Radojkovic D, Rogowski W, Soller M, Tibben A, Tranebjærg L, van El CG, Cornel MC. Dondorp W, et al. Eur J Hum Genet. 2015 Apr 1. doi: 10.1038/ejhg.2015.56. Online ahead of print. Eur J Hum Genet. 2015. PMID: 25828867 Free article. No abstract available.
Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness.
Severin F, Borry P, Cornel MC, Daniels N, Fellmann F, Victoria Hodgson S, Howard HC, John J, Kääriäinen H, Kayserili H, Kent A, Koerber F, Kristoffersson U, Kroese M, Lewis C, Marckmann G, Meyer P, Pfeufer A, Schmidtke J, Skirton H, Tranebjærg L, Rogowski WH; EuroGentest and ESHG/PPPC Priority Consortium. Severin F, et al. Eur J Hum Genet. 2015 Jun;23(6):729-35. doi: 10.1038/ejhg.2014.190. Epub 2014 Sep 24. Eur J Hum Genet. 2015. PMID: 25248395 Free PMC article.
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H, Lagerstedt-Robinson K, Magnusson M, Kvarnung M, Nilsson D, Lesko N, Engvall M, Anderlid BM, Arnell H, Johansson CB, Barbaro M, Björck E, Bruhn H, Eisfeldt J, Freyer C, Grigelioniene G, Gustavsson P, Hammarsjö A, Hellström-Pigg M, Iwarsson E, Jemt A, Laaksonen M, Enoksson SL, Malmgren H, Naess K, Nordenskjöld M, Oscarson M, Pettersson M, Rasi C, Rosenbaum A, Sahlin E, Sardh E, Stödberg T, Tesi B, Tham E, Thonberg H, Töhönen V, von Döbeln U, Vassiliou D, Vonlanthen S, Wikström AC, Wincent J, Winqvist O, Wredenberg A, Ygberg S, Zetterström RH, Marits P, Soller MJ, Nordgren A, Wirta V, Lindstrand A, Wedell A. Stranneheim H, et al. Among authors: soller mj. Genome Med. 2021 Mar 17;13(1):40. doi: 10.1186/s13073-021-00855-5. Genome Med. 2021. PMID: 33726816 Free PMC article.
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, Chitty LS, Fellmann F, Forzano F, Hall A, Henneman L, Howard HC, Lucassen A, Ormond K, Peterlin B, Radojkovic D, Rogowski W, Soller M, Tibben A, Tranebjærg L, van El CG, Cornel MC. Dondorp W, et al. Eur J Hum Genet. 2015 Nov;23(11):1592. doi: 10.1038/ejhg.2015.109. Eur J Hum Genet. 2015. PMID: 26468681 Free PMC article. No abstract available.
Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers.
Blanco I, Kuchenbaecker K, Cuadras D, Wang X, Barrowdale D, de Garibay GR, Librado P, Sánchez-Gracia A, Rozas J, Bonifaci N, McGuffog L, Pankratz VS, Islam A, Mateo F, Berenguer A, Petit A, Català I, Brunet J, Feliubadaló L, Tornero E, Benítez J, Osorio A, Ramón y Cajal T, Nevanlinna H, Aittomäki K, Arun BK, Toland AE, Karlan BY, Walsh C, Lester J, Greene MH, Mai PL, Nussbaum RL, Andrulis IL, Domchek SM, Nathanson KL, Rebbeck TR, Barkardottir RB, Jakubowska A, Lubinski J, Durda K, Jaworska-Bieniek K, Claes K, Van Maerken T, Díez O, Hansen TV, Jønson L, Gerdes AM, Ejlertsen B, de la Hoya M, Caldés T, Dunning AM, Oliver C, Fineberg E, Cook M, Peock S, McCann E, Murray A, Jacobs C, Pichert G, Lalloo F, Chu C, Dorkins H, Paterson J, Ong KR, Teixeira MR; Teixeira; Hogervorst FB, van der Hout AH, Seynaeve C, van der Luijt RB, Ligtenberg MJ, Devilee P, Wijnen JT, Rookus MA, Meijers-Heijboer HE, Blok MJ, van den Ouweland AM, Aalfs CM, Rodriguez GC, Phillips KA, Piedmonte M, Nerenstone SR, Bae-Jump VL, O'Malley DM, Ratner ES, Schmutzler RK, Wappenschmidt B, Rhiem K, Engel C, Meindl A, Ditsch N, Arnold N, Plendl HJ, Niederacher D, Sutter C, Wang-Gohrke S, Steinemann D, Preisler-Adams S, Kas… See abstract for full author list ➔ Blanco I, et al. PLoS One. 2015 Apr 1;10(4):e0120020. doi: 10.1371/journal.pone.0120020. eCollection 2015. PLoS One. 2015. PMID: 25830658 Free PMC article.
58 results