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Performance of Polygenic Risk Scores for Primary Open-Angle Glaucoma in Populations of African Descent.
Chang-Wolf JM, Kinzy TG, Driessen SJ, Cruz LA, Iyengar SK, Peachey NS, Aung T, Khor CC, Williams SE, Ramsay M, Olawoye O, Ashaye A, Klaver CCW, Hauser MA, Thiadens AAHJ, Cooke Bailey JN, Bonnemaijer PWM; Genetics in Glaucoma Patients of African Descent (GIGA) Study GroupGenetics of Glaucoma in People of African Descent (GGLAD) Study GroupMillion Veteran Program (MVP). Chang-Wolf JM, et al. JAMA Ophthalmol. 2024 Nov 14:e244784. doi: 10.1001/jamaophthalmol.2024.4784. Online ahead of print. JAMA Ophthalmol. 2024. PMID: 39541127
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. 2024 Oct 24:101305. doi: 10.1016/j.gim.2024.101305. Online ahead of print. Genet Med. 2024. PMID: 39489894 Free 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.
Support US OCTOPUS Act to keep octopuses wild.
Jacquet J, Franks B, Godfrey-Smith P, Sanchez-Suarez W, Abrams P, Ainley D, Alava Saltos JJ, Andrews K, Bach MF, Bergstrom CT, Birch J, Bradshaw K, Bray D, Broad K, Brooks CM, Brotz L, Brown C, Browning H, Burghardt GM, Butler M 4th, Callender C, Chadwin R, Cramer K, Cronin M, Darimont C, Delon N, Derrick S, Dutkiewicz J, Elmore B, Eshel G, Feeley K, Ferrero K, Froese R, Greenburg P, Gruen L, Hayek M, Haywood K, Heath C, Hessler K, Horowitz A, Jacewicz NL, Jackson J, Jamieson D, Johnson A, Khen A, King BJ, Knight A, Kovaka K, Kysar DA, Lara E, Lazarus O, Longo SB, Loy L, Malerbi G, Marceau JF, Marino L, Mather C, Mather JA, McCauley D, McClenachan L, McDermid S, Mikota SK, Mintzer VJ, Monk JD, Montgomery S, Morris V, Nakatani J, Palomares D, Paris C, Pauly D, Pedrazzani ASP, Reiss D, Roberts S, Roddy A, Rozwadowski HM, Safina C, Sala E, Scales H, Schlottmann CP, Schneider M, Schnell AK, Sebo J, Sellars L, Singer P, Smuts BB, Sneddon LU, Sommers T, Staaf D, Stilt KA, Suman D, Supran G, Tao A, Thresher AC, van Neste A, Verkuijl C, Webb C, Willette MM, Woods M, Wyman KM, York R. Jacquet J, et al. Among authors: bradshaw k. Science. 2024 Aug 16;385(6710):721-722. doi: 10.1126/science.adr3813. Epub 2024 Aug 15. Science. 2024. PMID: 39146423 No abstract available.
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: bradshaw k. 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.
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
Correlates of Risk for Disinhibited Behaviors in the Million Veteran Program Cohort.
Barr PB, Bigdeli TB, Meyers JL, Peterson RE, Sanchez-Roige S, Mallard TT, Dick DM, Harden KP, Wilkinson A, Graham DP, Nielsen DA, Swann AC, Lipsky RK, Kosten TR, Aslan M, Harvey PD, Kimbrel NA, Beckham JC; Million Veteran Program (MVP)Cooperative Studies Program (CSP) #572. Barr PB, et al. JAMA Psychiatry. 2024 Feb 1;81(2):188-197. doi: 10.1001/jamapsychiatry.2023.4141. JAMA Psychiatry. 2024. PMID: 37938835 Free PMC article.
168 results