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Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey.
Allen S, Loong L, Garrett A, Torr B, Durkie M, Drummond J, Callaway A, Robinson R, Burghel GJ, Hanson H, Field J, McDevitt T, McVeigh TP, Bedenham T, Bowles C, Bradshaw K, Brooks C, Butler S, Del Rey Jimenez JC, Hawkes L, Stinton V, MacMahon S, Owens M, Palmer-Smith S, Smith K, Tellez J, Valganon-Petrizan M, Waskiewicz E, Yau M, Eccles DM, Tischkowitz M, Goel S, McRonald F, Antoniou AC, Morris E, Hardy S, Turnbull C. Allen S, et al. Among authors: tischkowitz m. J Med Genet. 2024 Mar 21;61(4):305-312. doi: 10.1136/jmg-2023-109645. J Med Genet. 2024. PMID: 38154813 Free PMC article.
Proactive breast cancer risk assessment in primary care: a review based on the principles of screening.
Usher-Smith JA, Hindmarch S, French DP, Tischkowitz M, Moorthie S, Walter FM, Dennison RA, Stutzin Donoso F, Archer S, Taylor L, Emery J, Morris S, Easton DF, Antoniou AC. Usher-Smith JA, et al. Among authors: tischkowitz m. Br J Cancer. 2023 May;128(9):1636-1646. doi: 10.1038/s41416-023-02145-w. Epub 2023 Feb 3. Br J Cancer. 2023. PMID: 36737659 Free PMC article. Review.
Exploring the barriers to and facilitators of implementing CanRisk in primary care: a qualitative thematic framework analysis.
Archer S, Donoso FS, Carver T, Yue A, Cunningham AP, Ficorella L, Tischkowitz M, Easton DF, Antoniou AC, Emery J, Usher-Smith J, Walter FM. Archer S, et al. Among authors: tischkowitz m. Br J Gen Pract. 2023 Jul 27;73(733):e586-e596. doi: 10.3399/BJGP.2022.0643. Print 2023 Aug. Br J Gen Pract. 2023. PMID: 37308304 Free PMC article.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
Breast cancer risk assessment for prescription of menopausal hormone therapy in women with a family history of breast cancer: an epidemiological modelling study.
Huntley C, Torr B, Kavanaugh G, George A, Hanson H, Snape K, Broggio J, Glasgow L, Tischkowitz M, Evans DG, Antoniou AC, Turnbull C. Huntley C, et al. Among authors: tischkowitz m. Br J Gen Pract. 2024 Aug 29;74(746):e610-e618. doi: 10.3399/BJGP.2023.0327. Print 2024 Sep. Br J Gen Pract. 2024. PMID: 38724186 Free PMC article.
Risks of second primary cancers among 584,965 female and male breast cancer survivors in England: a 25-year retrospective cohort study.
Allen I, Hassan H, Joko-Fru WY, Huntley C, Loong L, Rahman T, Torr B, Bacon A, Knott C, Jose S, Vernon S, Lüchtenborg M, Pethick J, Lavelle K, McRonald F, Eccles D, Morris EJA, Hardy S, Turnbull C, Tischkowitz M, Pharoah P, Antoniou AC. Allen I, et al. Among authors: tischkowitz m. Lancet Reg Health Eur. 2024 Apr 24;40:100903. doi: 10.1016/j.lanepe.2024.100903. eCollection 2024 May. Lancet Reg Health Eur. 2024. PMID: 38745989 Free PMC article.
The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification.
Rowlands CF, Garrett A, Allen S, Durkie M, Burghel GJ, Robinson R, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, McVeigh TP, Hanson H, Whiffin N, Jones M, Turnbull C; CanVIG-UK. Rowlands CF, et al. J Med Genet. 2024 Sep 24;61(10):983-991. doi: 10.1136/jmg-2024-110034. J Med Genet. 2024. PMID: 39227160 Free PMC article.
352 results