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454 results

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Page 1
Population-based BRCA1/2 testing programmes are highly acceptable in the Jewish community: results of the JeneScreen Study.
Tiller JM, Cousens NE, Kaur R, Rowley S, Ko YA, Mahale S, Bankier A, Meiser B, Barlow-Stewart K, Burnett L, Jacobs C, James P, Trainer A, Neil S, Campbell IG, Andrews L, Delatycki M. Tiller JM, et al. Among authors: delatycki m. J Med Genet. 2023 Mar;60(3):265-273. doi: 10.1136/jmedgenet-2022-108519. Epub 2022 Jun 3. J Med Genet. 2023. PMID: 36763037
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, B… See abstract for full author list ➔ Bournazos AM, et al. Among authors: delatycki m. 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.
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.
Archibald AD, McClaren BJ, Caruana J, Tutty E, King EA, Halliday JL, Best S, Kanga-Parabia A, Bennetts BH, Cliffe CC, Madelli EO, Ho G, Liebelt J, Long JC, Braithwaite J, Kennedy J, Massie J, Emery JD, McGaughran J, Marum JE, Boggs K, Barlow-Stewart K, Burnett L, Dive L, Freeman L, Davis MR, Downes MJ, Wallis M, Ferrie MM, Pachter N, Scuffham PA, Casella R, Allcock RJN, Ong R, Edwards S, Righetti S, Lunke S, Lewis S, Walker SP, Boughtwood TF, Hardy T, Newson AJ, Kirk EP, Laing NG, Delatycki MB, The Mackenzie's Mission Study Team. Archibald AD, et al. Among authors: delatycki mb. J Pers Med. 2022 Oct 28;12(11):1781. doi: 10.3390/jpm12111781. J Pers Med. 2022. PMID: 36579509 Free PMC article.
FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women.
Figlioli G, Billaud A, Ahearn TU, Antonenkova NN, Becher H, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Blok MJ, Bogdanova NV, Bonanni B, Burwinkel B, Camp NJ, Campbell A, Castelao JE, Cessna MH, Chanock SJ; NBCS Collaborators; Czene K, Devilee P, Dörk T, Engel C, Eriksson M, Fasching PA, Figueroa JD, Gabrielson M, Gago-Dominguez M, García-Closas M, González-Neira A, Grassmann F, Guénel P, Gündert M, Hadjisavvas A, Hahnen E, Hall P, Hamann U, Harrington PA, He W, Hillemanns P, Hollestelle A, Hooning MJ, Hoppe R, Howell A, Humphreys K; KConFab Investigators; Jager A, Jakubowska A, Khusnutdinova EK, Ko YD, Kristensen VN, Lindblom A, Lissowska J, Lubiński J, Mannermaa A, Manoukian S, Margolin S, Mavroudis D, Newman WG, Obi N, Panayiotidis MI, Rashid MU, Rhenius V, Rookus MA, Saloustros E, Sawyer EJ, Schmutzler RK, Shah M, Sironen R, Southey MC, Suvanto M, Tollenaar RAEM, Tomlinson I, Truong T, van der Kolk LE, van Veen EM, Wappenschmidt B, Yang XR, Bolla MK, Dennis J, Dunning AM, Easton DF, Lush M, Michailidou K, Pharoah PDP, Wang Q, Adank MA, Schmidt MK, Andrulis IL, Chang-Claude J, Nevanlinna H, Chenevix-Trench G, Evans DG, Milne RL, Radice P, Peterlongo P. Figlioli G, et al. Eur J Hum Genet. 2023 May;31(5):578-587. doi: 10.1038/s41431-022-01257-w. Epub 2023 Jan 27. Eur J Hum Genet. 2023. PMID: 36707629 Free PMC article.
Community concerns about genetic discrimination in life insurance persist in Australia: A survey of consumers offered genetic testing.
Tiller J, Bakshi A, Dowling G, Keogh L, McInerney-Leo A, Barlow-Stewart K, Boughtwood T, Gleeson P, Delatycki MB, Winship I, Otlowski M, Lacaze P. Tiller J, et al. Among authors: delatycki mb. Eur J Hum Genet. 2024 Mar;32(3):286-294. doi: 10.1038/s41431-023-01373-1. Epub 2023 May 11. Eur J Hum Genet. 2024. PMID: 37169978 Free PMC article.
Correction: Community concerns about genetic discrimination in life insurance persist in Australia: A survey of consumers offered genetic testing.
Tiller J, Bakshi A, Dowling G, Keogh L, McInerney-Leo A, Barlow-Stewart K, Boughtwood T, Gleeson P, Delatycki MB, Winship I, Otlowski M, Lacaze P. Tiller J, et al. Among authors: delatycki mb. Eur J Hum Genet. 2024 Mar;32(3):365. doi: 10.1038/s41431-023-01391-z. Eur J Hum Genet. 2024. PMID: 37217628 Free PMC article. No abstract available.
Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival.
Morra A, Schreurs MAC, Andrulis IL, Anton-Culver H, Augustinsson A, Beckmann MW, Behrens S, Bojesen SE, Bolla MK, Brauch H, Broeks A, Buys SS, Camp NJ, Castelao JE, Cessna MH, Chang-Claude J, Chung WK; NBCS Collaborators; Colonna SV, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Dennis J, Devilee P, Dörk T, Dunning AM, Dwek M, Easton DF, Eccles DM, Eriksson M, Evans DG, Fasching PA, Fehm TN, Figueroa JD, Flyger H, Gabrielson M, Gago-Dominguez M, García-Closas M, García-Sáenz JA, Genkinger J, Grassmann F, Gündert M, Hahnen E, Haiman CA, Hamann U, Harrington PA, Hartikainen JM, Hoppe R, Hopper JL, Houlston RS, Howell A; ABCTB Investigators; kConFab Investigators; Jakubowska A, Janni W, Jernström H, John EM, Johnson N, Jones ME, Kristensen VN, Kurian AW, Lambrechts D, Le Marchand L, Lindblom A, Lubiński J, Lux MP, Mannermaa A, Mavroudis D, Mulligan AM, Muranen TA, Nevanlinna H, Nevelsteen I, Neven P, Newman WG, Obi N, Offit K, Olshan AF, Park-Simon TW, Patel AV, Peterlongo P, Phillips KA, Plaseska-Karanfilska D, Polley EC, Presneau N, Pylkäs K, Rack B, Radice P, Rashid MU, Rhenius V, Robson M, Romero A, Saloustros E, Sawyer EJ, Schmutzler RK, Schuetze S, Scott C, Shah M, Smichkoska S,… See abstract for full author list ➔ Morra A, et al. Cancer Med. 2023 Aug;12(15):16142-16162. doi: 10.1002/cam4.6272. Epub 2023 Jul 3. Cancer Med. 2023. PMID: 37401034 Free PMC article.
Response to Li and Sun.
Freeman L, Delatycki MB, Scully JL, Kirk EP. Freeman L, et al. Genet Med. 2023 Jan;25(1):157. doi: 10.1016/j.gim.2022.10.003. Epub 2022 Nov 14. Genet Med. 2023. PMID: 36378228 Free article. No abstract available.
Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol.
Bouffler SE, Lee L, Lynch F, Martyn M, Lynch E, Macciocca I, Curnow L, McCorkell G, Lunke S, Chong B, Marum JE, Delatycki M, Downie L, Goranitis I, Vears DF, Best S, Clausen M, Bombard Y, Stark Z, Gaff CL. Bouffler SE, et al. Among authors: delatycki m. BMJ Open. 2023 Jun 2;13(6):e072999. doi: 10.1136/bmjopen-2023-072999. BMJ Open. 2023. PMID: 37270192 Free PMC article.
454 results