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Year Number of Results
1975 1
1980 2
1981 1
1992 1
1993 1
1995 1
2003 1
2005 1
2006 4
2007 2
2008 1
2009 1
2011 2
2013 2
2014 1
2021 2
2022 2
2024 4
2025 4

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30 results

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Page 1
Nationwide, Couple-Based Genetic Carrier Screening.
Kirk EP, Delatycki MB, Archibald AD, Tutty E, Caruana J, Halliday JL, Lewis S, McClaren BJ, Newson AJ, Dive L, Best S, Long JC, Braithwaite J, Downes MJ, Scuffham PA, Massie J, Barlow-Stewart K, Kulkarni A, Ruscigno A, Kanga-Parabia A, Rodrigues B, Bennetts BH, Ebzery C, Hunt C, Cliffe CC, Lee C, Azmanov D, King EA, Madelli EO, Zhang F, Ho G, Danos I, Liebelt J, Fletcher J, Kennedy J, Beilby J, Emery JD, McGaughran J, Marum JE, Scarff K, Fisk K, Harrison K, Boggs K, Giameos L, Fitzgerald L, Thomas L, Burnett L, Freeman L, Harris M, Berbic M, Davis MR, Cifuentes Ochoa M, Wallis M, Wall M, Chow MTM, Ferrie MM, Pachter N, Quayum N, Lang N, Kasi Pandy P, Casella R, Allcock RJN, Ong R, Edwards S, Sundercombe S, Jelenich S, Righetti S, Lunke S, Kaur S, Stock-Myer S, Eggers S, Walker SP, Theodorou T, Catchpool T, Clinch T, Roscioli T, Hardy T, Zhu Y, Fehlberg Z, Boughtwood TF, Laing NG; Mackenzie’s Mission Investigators; Mackenzie's Mission Investigators. Kirk EP, et al. N Engl J Med. 2024 Nov 21;391(20):1877-1889. doi: 10.1056/NEJMoa2314768. N Engl J Med. 2024. PMID: 39565987
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.
Taylor PJ, Maroulis S, Mullan GL, Pedersen RL, Baumli A, Elakis G, Piras S, Walsh C, Prósper-Gutiérrez B, De La Puente-Alonso F, Bell CG, Mowat DR, Johnston HM, Buckley MF. Taylor PJ, et al. Among authors: mullan gl. J Med Genet. 2007 Jun;44(6):368-72. doi: 10.1136/jmg.2006.047464. Epub 2007 Jan 26. J Med Genet. 2007. PMID: 17259292 Free PMC article.
Assisted reproduction technology in multiple sclerosis.
Mullan G, Hughes S, Rog D, Brex P, Dobson R. Mullan G, et al. Pract Neurol. 2025 Jan 19:pn-2024-004459. doi: 10.1136/pn-2024-004459. Online ahead of print. Pract Neurol. 2025. PMID: 39832922 No abstract available.
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.
Results from a multiple sclerosis relapse clinic.
Mullan G, Kee R, Kennedy F, Hughes S, McDonnell GV. Mullan G, et al. Mult Scler Relat Disord. 2025 Jul;99:106459. doi: 10.1016/j.msard.2025.106459. Epub 2025 Apr 25. Mult Scler Relat Disord. 2025. PMID: 40279779 Free article.
Large-scale migration into Britain during the Middle to Late Bronze Age.
Patterson N, Isakov M, Booth T, Büster L, Fischer CE, Olalde I, Ringbauer H, Akbari A, Cheronet O, Bleasdale M, Adamski N, Altena E, Bernardos R, Brace S, Broomandkhoshbacht N, Callan K, Candilio F, Culleton B, Curtis E, Demetz L, Carlson KSD, Edwards CJ, Fernandes DM, Foody MGB, Freilich S, Goodchild H, Kearns A, Lawson AM, Lazaridis I, Mah M, Mallick S, Mandl K, Micco A, Michel M, Morante GB, Oppenheimer J, Özdoğan KT, Qiu L, Schattke C, Stewardson K, Workman JN, Zalzala F, Zhang Z, Agustí B, Allen T, Almássy K, Amkreutz L, Ash A, Baillif-Ducros C, Barclay A, Bartosiewicz L, Baxter K, Bernert Z, Blažek J, Bodružić M, Boissinot P, Bonsall C, Bradley P, Brittain M, Brookes A, Brown F, Brown L, Brunning R, Budd C, Burmaz J, Canet S, Carnicero-Cáceres S, Čaušević-Bully M, Chamberlain A, Chauvin S, Clough S, Čondić N, Coppa A, Craig O, Črešnar M, Cummings V, Czifra S, Danielisová A, Daniels R, Davies A, de Jersey P, Deacon J, Deminger C, Ditchfield PW, Dizdar M, Dobeš M, Dobisíková M, Domboróczki L, Drinkall G, Đukić A, Ernée M, Evans C, Evans J, Fernández-Götz M, Filipović S, Fitzpatrick A, Fokkens H, Fowler C, Fox A, Gallina Z, Gamble M, González Morales MR, González-Rabanal B, Gre… See abstract for full author list ➔ Patterson N, et al. Among authors: mullan g. Nature. 2022 Jan;601(7894):588-594. doi: 10.1038/s41586-021-04287-4. Epub 2021 Dec 22. Nature. 2022. PMID: 34937049 Free PMC article.
Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK).
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, Rowlands CF, McVeigh T, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. Genet Med. 2025 Feb;27(2):101305. doi: 10.1016/j.gim.2024.101305. Epub 2024 Oct 24. Genet Med. 2025. PMID: 39489894 Free article.
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Loong L, Cubuk C, Choi S, Allen S, Torr B, Garrett A, Loveday C, Durkie M, Callaway A, Burghel GJ, Drummond J, Robinson R, Berry IR, Wallace A, Eccles DM, Tischkowitz M, Ellard S, Ware JS, Hanson H, Turnbull C; CanVIG-UK. Loong L, et al. Genet Med. 2022 Mar;24(3):552-563. doi: 10.1016/j.gim.2021.11.011. Epub 2021 Nov 18. Genet Med. 2022. PMID: 34906453 Free PMC article.
Ancient Borrelia genomes document the evolutionary history of louse-borne relapsing fever.
Swali P, Booth T, Tan CCS, McCabe J, Anastasiadou K, Barrington C, Borrini M, Bricking A, Buckberry J, Büster L, Carlin R, Gilardet A, Glocke I, Irish JD, Kelly M, King M, Petchey F, Peto J, Silva M, Speidel L, Tait F, Teoaca A, Valoriani S, Williams M, Madgwick R, Mullan G, Wilson L, Cootes K, Armit I, Gutierrez MG, van Dorp L, Skoglund P. Swali P, et al. Among authors: mullan g. Science. 2025 May 22;388(6749):eadr2147. doi: 10.1126/science.adr2147. Epub 2025 May 22. Science. 2025. PMID: 40403067 Free PMC article.
30 results