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Page 1
Identification of novel locus associated with coronary artery aneurysms and validation of loci for susceptibility to Kawasaki disease.
Hoggart C, Shimizu C, Galassini R, Wright VJ, Shailes H, Bellos E, Herberg JA, Pollard AJ, O'Connor D, Choi SW, Seaby EG, Menikou S, Hibberd M, Sallah N, Burgner D, Brogan P, Patel H, Kim J, Tremoulet AH, Salo E, van Stijn D, Kuijpers T, Burns JC, Levin M; International Kawasaki Disease Genetics Consortium; UK Kawasaki Disease Genetics Consortium; EUCLIDS Consortium. Hoggart C, et al. Among authors: seaby eg. Eur J Hum Genet. 2021 Dec;29(12):1734-1744. doi: 10.1038/s41431-021-00838-5. Epub 2021 Mar 26. Eur J Hum Genet. 2021. PMID: 33772158 Free PMC article.
Genome-wide Association Studies in Infectious Diseases.
Seaby EG, Wright VJ, Levin M. Seaby EG, et al. Pediatr Infect Dis J. 2016 Jul;35(7):802-4. doi: 10.1097/INF.0000000000001183. Pediatr Infect Dis J. 2016. PMID: 27097352 Free article. Review. No abstract available.
Treatment of Multisystem Inflammatory Syndrome in Children.
McArdle AJ, Vito O, Patel H, Seaby EG, Shah P, Wilson C, Broderick C, Nijman R, Tremoulet AH, Munblit D, Ulloa-Gutierrez R, Carter MJ, De T, Hoggart C, Whittaker E, Herberg JA, Kaforou M, Cunnington AJ, Levin M; BATS Consortium. McArdle AJ, et al. Among authors: seaby eg. N Engl J Med. 2021 Jul 1;385(1):11-22. doi: 10.1056/NEJMoa2102968. Epub 2021 Jun 16. N Engl J Med. 2021. PMID: 34133854 Free PMC article.
Immunoglobulin, glucocorticoid, or combination therapy for multisystem inflammatory syndrome in children: a propensity-weighted cohort study.
Channon-Wells S, Vito O, McArdle AJ, Seaby EG, Patel H, Shah P, Pazukhina E, Wilson C, Broderick C, D'Souza G, Keren I, Nijman RG, Tremoulet A, Munblit D, Ulloa-Gutierrez R, Carter MJ, Ramnarayan P, De T, Hoggart C, Whittaker E, Herberg JA, Kaforou M, Cunnington AJ, Blyuss O, Levin M; Best Available Treatment Study (BATS) consortium. Channon-Wells S, et al. Among authors: seaby eg. Lancet Rheumatol. 2023 Apr;5(4):e184-e199. doi: 10.1016/S2665-9913(23)00029-2. Epub 2023 Feb 14. Lancet Rheumatol. 2023. PMID: 36855438 Free PMC article.
Treatment of Multisystem Inflammatory Syndrome in Children: Understanding Differences in Results of Comparative Effectiveness Studies.
Melgar M, Seaby EG, McArdle AJ, Young CC, Campbell AP, Murray NL, Patel MM, Levin M, Randolph AG, Son MBF; BATS Consortium and the Overcoming COVID-19 Investigators. Melgar M, et al. Among authors: seaby eg. ACR Open Rheumatol. 2022 Sep;4(9):804-810. doi: 10.1002/acr2.11478. Epub 2022 Jun 27. ACR Open Rheumatol. 2022. PMID: 35759535 Free PMC article.
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.
Pérez Baca MDR, Jacobs EZ, Vantomme L, Leblanc P, Bogaert E, Dheedene A, De Cock L, Haghshenas S, Foroutan A, Levy MA, Kerkhof J, McConkey H, Chen CA, Batzir NA, Wang X, Palomares M, Carels M; ZFHX3 consortium; Dermaut B, Sadikovic B, Menten B, Yuan B, Vergult S, Callewaert B. Pérez Baca MDR, et al. Am J Hum Genet. 2024 Mar 7;111(3):509-528. doi: 10.1016/j.ajhg.2024.01.013. Epub 2024 Feb 26. Am J Hum Genet. 2024. PMID: 38412861
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.
Wojcik MH, Lemire G, Zaki MS, Wissman M, Win W, White S, Weisburd B, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, Straub V, Stenton SL, Snow H, Singer-Berk M, Silver J, Shril S, Seaby EG, Schneider R, Sankaran VG, Sanchis-Juan A, Russell KA, Reinson K, Ravenscroft G, Pierce EA, Place EM, Pajusalu S, Pais L, Õunap K, Osei-Owusu I, Okur V, Oja KT, O'Leary M, O'Heir E, Morel C, Marchant RG, Mangilog BE, Madden JA, MacArthur D, Lovgren A, Lerner-Ellis JP, Lin J, Laing N, Hildebrandt F, Groopman E, Goodrich J, Gleeson JG, Ghaoui R, Genetti CA, Gazda HT, Ganesh VS, Ganapathy M, Gallacher L, Fu J, Evangelista E, England E, Donkervoort S, DiTroia S, Cooper ST, Chung WK, Christodoulou J, Chao KR, Cato LD, Bujakowska KM, Bryen SJ, Brand H, Bonnemann C, Beggs AH, Baxter SM, Agrawal PB, Talkowski M, Austin-Tse C, Rehm HL, O'Donnell-Luria A. Wojcik MH, et al. Among authors: seaby eg. medRxiv [Preprint]. 2023 Aug 13:2023.08.08.23293829. doi: 10.1101/2023.08.08.23293829. medRxiv. 2023. PMID: 38328047 Free PMC article. Preprint.
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes.
Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, Alföldi J, Watts NA, Vittal C, Gauthier LD, Poterba T, Wilson MW, Tarasova Y, Phu W, Grant R, Yohannes MT, Koenig Z, Farjoun Y, Banks E, Donnelly S, Gabriel S, Gupta N, Ferriera S, Tolonen C, Novod S, Bergelson L, Roazen D, Ruano-Rubio V, Covarrubias M, Llanwarne C, Petrillo N, Wade G, Jeandet T, Munshi R, Tibbetts K; Genome Aggregation Database Consortium; O'Donnell-Luria A, Solomonson M, Seed C, Martin AR, Talkowski ME, Rehm HL, Daly MJ, Tiao G, Neale BM, MacArthur DG, Karczewski KJ. Chen S, et al. Nature. 2024 Feb;626(7997):E1. doi: 10.1038/s41586-024-07050-7. Nature. 2024. PMID: 38225470 No abstract available.
53 results