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Evidence supports a causal association between allele-specific vitamin D receptor binding and multiple sclerosis among Europeans.
Adams C, Manouchehrinia A, Quach HL, Quach DL, Olsson T, Kockum I, Schaefer C, Ponting CP, Alfredsson L, Barcellos LF. Adams C, et al. Among authors: ponting cp. Proc Natl Acad Sci U S A. 2024 Feb 20;121(8):e2302259121. doi: 10.1073/pnas.2302259121. Epub 2024 Feb 12. Proc Natl Acad Sci U S A. 2024. PMID: 38346204 Free PMC article.
Genetic mechanisms of critical illness in COVID-19.
Pairo-Castineira E, Clohisey S, Klaric L, Bretherick AD, Rawlik K, Pasko D, Walker S, Parkinson N, Fourman MH, Russell CD, Furniss J, Richmond A, Gountouna E, Wrobel N, Harrison D, Wang B, Wu Y, Meynert A, Griffiths F, Oosthuyzen W, Kousathanas A, Moutsianas L, Yang Z, Zhai R, Zheng C, Grimes G, Beale R, Millar J, Shih B, Keating S, Zechner M, Haley C, Porteous DJ, Hayward C, Yang J, Knight J, Summers C, Shankar-Hari M, Klenerman P, Turtle L, Ho A, Moore SC, Hinds C, Horby P, Nichol A, Maslove D, Ling L, McAuley D, Montgomery H, Walsh T, Pereira AC, Renieri A; GenOMICC Investigators; ISARIC4C Investigators; COVID-19 Human Genetics Initiative; 23andMe Investigators; BRACOVID Investigators; Gen-COVID Investigators; Shen X, Ponting CP, Fawkes A, Tenesa A, Caulfield M, Scott R, Rowan K, Murphy L, Openshaw PJM, Semple MG, Law A, Vitart V, Wilson JF, Baillie JK. Pairo-Castineira E, et al. Among authors: ponting cp. Nature. 2021 Mar;591(7848):92-98. doi: 10.1038/s41586-020-03065-y. Epub 2020 Dec 11. Nature. 2021. PMID: 33307546 Free article.
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.
Fallerini C, Picchiotti N, Baldassarri M, Zguro K, Daga S, Fava F, Benetti E, Amitrano S, Bruttini M, Palmieri M, Croci S, Lista M, Beligni G, Valentino F, Meloni I, Tanfoni M, Minnai F, Colombo F, Cabri E, Fratelli M, Gabbi C, Mantovani S, Frullanti E, Gori M, Crawley FP, Butler-Laporte G, Richards B, Zeberg H, Lipcsey M, Hultström M, Ludwig KU, Schulte EC, Pairo-Castineira E, Baillie JK, Schmidt A, Frithiof R; WES/WGS Working Group Within the HGI; GenOMICC Consortium; GEN-COVID Multicenter Study; Mari F, Renieri A, Furini S. Fallerini C, et al. Hum Genet. 2022 Jan;141(1):147-173. doi: 10.1007/s00439-021-02397-7. Epub 2021 Dec 10. Hum Genet. 2022. PMID: 34889978 Free PMC article.
A ChIP-seq defined genome-wide map of vitamin D receptor binding: associations with disease and evolution.
Ramagopalan SV, Heger A, Berlanga AJ, Maugeri NJ, Lincoln MR, Burrell A, Handunnetthi L, Handel AE, Disanto G, Orton SM, Watson CT, Morahan JM, Giovannoni G, Ponting CP, Ebers GC, Knight JC. Ramagopalan SV, et al. Among authors: ponting cp. Genome Res. 2010 Oct;20(10):1352-60. doi: 10.1101/gr.107920.110. Epub 2010 Aug 24. Genome Res. 2010. PMID: 20736230 Free PMC article.
Genetic risk factors of ME/CFS: a critical review.
Dibble JJ, McGrath SJ, Ponting CP. Dibble JJ, et al. Among authors: ponting cp. Hum Mol Genet. 2020 Sep 30;29(R1):R117-R124. doi: 10.1093/hmg/ddaa169. Hum Mol Genet. 2020. PMID: 32744306 Free PMC article. Review.
Linking protein to phenotype with Mendelian Randomization detects 38 proteins with causal roles in human diseases and traits.
Bretherick AD, Canela-Xandri O, Joshi PK, Clark DW, Rawlik K, Boutin TS, Zeng Y, Amador C, Navarro P, Rudan I, Wright AF, Campbell H, Vitart V, Hayward C, Wilson JF, Tenesa A, Ponting CP, Baillie JK, Haley C. Bretherick AD, et al. Among authors: ponting cp. PLoS Genet. 2020 Jul 6;16(7):e1008785. doi: 10.1371/journal.pgen.1008785. eCollection 2020 Jul. PLoS Genet. 2020. PMID: 32628676 Free PMC article.
Hexa-Longin domain scaffolds for inter-Rab signalling.
Sanchez-Pulido L, Ponting CP. Sanchez-Pulido L, et al. Among authors: ponting cp. Bioinformatics. 2020 Feb 15;36(4):990-993. doi: 10.1093/bioinformatics/btz739. Bioinformatics. 2020. PMID: 31562761 Free PMC article.
352 results