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Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing.
Hocking LJ, Andrews C, Armstrong C, Ansari M, Baty D, Berg J, Bradley T, Clark C, Diamond A, Doherty J, Lampe A, McGowan R, Moore DJ, O'Sullivan D, Purvis A, Santoyo-Lopez J, Westwood P, Abbott M, Williams N; Scottish Genomes Partnership; Aitman TJ, Miedzybrodzka Z. Hocking LJ, et al. Among authors: moore dj. Eur J Hum Genet. 2023 Feb;31(2):231-238. doi: 10.1038/s41431-022-01226-3. Epub 2022 Dec 6. Eur J Hum Genet. 2023. PMID: 36474026 Free PMC article.
Regulatory de novo mutations underlying intellectual disability.
De Vas MG, Boulet F, Joshi SS, Garstang MG, Khan TN, Atla G, Parry D, Moore D, Cebola I, Zhang S, Cui W, Lampe AK, Lam WW; Genomics England Research Consortium; Ferrer J, Pradeepa MM, Atanur SS. De Vas MG, et al. Life Sci Alliance. 2023 Feb 28;6(5):e202201843. doi: 10.26508/lsa.202201843. Print 2023 May. Life Sci Alliance. 2023. PMID: 36854624 Free PMC article.
Improved PCR based methods for detecting C9orf72 hexanucleotide repeat expansions.
Cleary EM, Pal S, Azam T, Moore DJ, Swingler R, Gorrie G, Stephenson L, Colville S, Chandran S, Porteous M, Warner JP. Cleary EM, et al. Among authors: moore dj. Mol Cell Probes. 2016 Aug;30(4):218-224. doi: 10.1016/j.mcp.2016.06.001. Epub 2016 Jun 7. Mol Cell Probes. 2016. PMID: 27288208 Free PMC article.
A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection.
Reijns MAM, Thompson L, Acosta JC, Black HA, Sanchez-Luque FJ, Diamond A, Parry DA, Daniels A, O'Shea M, Uggenti C, Sanchez MC, O'Callaghan A, McNab MLL, Adamowicz M, Friman ET, Hurd T, Jarman EJ, Chee FLM, Rainger JK, Walker M, Drake C, Longman D, Mordstein C, Warlow SJ, McKay S, Slater L, Ansari M, Tomlinson IPM, Moore D, Wilkinson N, Shepherd J, Templeton K, Johannessen I, Tait-Burkard C, Haas JG, Gilbert N, Adams IR, Jackson AP. Reijns MAM, et al. PLoS Biol. 2020 Dec 15;18(12):e3001030. doi: 10.1371/journal.pbio.3001030. eCollection 2020 Dec. PLoS Biol. 2020. PMID: 33320856 Free PMC article. Clinical Trial.
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.
Hall HN, Bengani H, Hufnagel RB, Damante G, Ansari M, Marsh JA, Grimes GR, Kriegsheim AV, Moore D, McKie L, Rahmat J, Mio C, Blyth M, Keng WT, Islam L, McEntargart M, Mannens MM, Heyningen VV, Rainger J, Brooks BP, FitzPatrick DR. Hall HN, et al. PLoS One. 2022 Nov 22;17(11):e0268149. doi: 10.1371/journal.pone.0268149. eCollection 2022. PLoS One. 2022. PMID: 36413568 Free PMC article.
Randomised trial of genetic testing and targeted intervention to prevent the development and progression of Paget's disease of bone.
Phillips J, Subedi D, Lewis SC, Keerie C, Cronin O, Porteous M, Moore D, Cetnarskyj R, Ranganath L, Selby PL, Turgut T, Hampson G, Chandra R, Ho S, Tobias J, Young-Min S, McKenna MJ, Crowley RK, Fraser WD, Tang JCY, Gennari L, Nuti R, Brandi ML, Del Pino-Montes J, Devogelaer JP, Durnez A, Isaia GC, Di Stefano M, Guanabens N, Blanch Rubio J, Seibel MJ, Walsh JP, Rea SL, Kotowicz MA, Nicholson GC, Duncan EL, Major G, Horne A, Gilchrist N, Ralston SH. Phillips J, et al. Ann Rheum Dis. 2024 Mar 12;83(4):529-536. doi: 10.1136/ard-2023-224990. Ann Rheum Dis. 2024. PMID: 38123339 Free PMC article. Clinical Trial.
Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an "HHT-like" syndrome in children.
Hodgson J, Ruiz-Llorente L, McDonald J, Quarrell O, Ugonna K, Bentham J, Mason R, Martin J, Moore D, Bergstrom K, Bayrak-Toydemir P, Wooderchak-Donahue W, Morrell NW, Condliffe R, Bernabeu C, Upton PD. Hodgson J, et al. Mol Genet Genomic Med. 2021 Dec;9(12):e1685. doi: 10.1002/mgg3.1685. Epub 2021 Apr 9. Mol Genet Genomic Med. 2021. PMID: 33834622 Free PMC article.
1,033 results