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Page 1
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Pagnamenta AT, et al. Among authors: uhlig hh. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease.
Schwerd T, Bryant RV, Pandey S, Capitani M, Meran L, Cazier JB, Jung J, Mondal K, Parkes M, Mathew CG, Fiedler K, McCarthy DJ; WGS500 Consortium; Oxford IBD cohort study investigators; COLORS in IBD group investigators; UK IBD Genetics Consortium; Sullivan PB, Rodrigues A, Travis SPL, Moore C, Sambrook J, Ouwehand WH, Roberts DJ, Danesh J; INTERVAL Study; Russell RK, Wilson DC, Kelsen JR, Cornall R, Denson LA, Kugathasan S, Knaus UG, Serra EG, Anderson CA, Duerr RH, McGovern DP, Cho J, Powrie F, Li VS, Muise AM, Uhlig HH. Schwerd T, et al. Among authors: uhlig hh. Mucosal Immunol. 2018 Mar;11(2):562-574. doi: 10.1038/mi.2017.74. Epub 2017 Nov 1. Mucosal Immunol. 2018. PMID: 29091079 Free PMC article.
The Childhood Acute Illness and Nutrition (CHAIN) network nested case-cohort study protocol: a multi-omics approach to understanding mortality among children in sub-Saharan Africa and South Asia.
Njunge JM, Tickell K, Diallo AH, Sayeem Bin Shahid ASM, Gazi MA, Saleem A, Kazi Z, Ali S, Tigoi C, Mupere E, Lancioni CL, Yoshioka E, Chisti MJ, Mburu M, Ngari M, Ngao N, Gichuki B, Omer E, Gumbi W, Singa B, Bandsma R, Ahmed T, Voskuijl W, Williams TN, Macharia A, Makale J, Mitchel A, Williams J, Gogain J, Janjic N, Mandal R, Wishart DS, Wu H, Xia L, Routledge M, Gong YY, Espinosa C, Aghaeepour N, Liu J, Houpt E, Lawley TD, Browne H, Shao Y, Rwigi D, Kariuki K, Kaburu T, Uhlig HH, Gartner L, Jones K, Koulman A, Walson J, Berkley J. Njunge JM, et al. Among authors: uhlig hh. Gates Open Res. 2022 Nov 3;6:77. doi: 10.12688/gatesopenres.13635.2. eCollection 2022. Gates Open Res. 2022. PMID: 36415883 Free PMC article.
Biallelic TLR4 deficiency in humans.
Capitani M, Al-Shaibi AA, Pandey S, Gartner L, Taylor H, Hubrack SZ, Agrebi N, Al-Mohannadi MJ, Al Kaabi S, Vogl T, Roth J, Kotlarz D, Klein C, Charles AK, Vijayakumar V, Karim MY, George B, Travis SP, Elawad M, Lo B, Uhlig HH. Capitani M, et al. Among authors: uhlig hh. J Allergy Clin Immunol. 2023 Mar;151(3):783-790.e5. doi: 10.1016/j.jaci.2022.08.030. Epub 2022 Nov 30. J Allergy Clin Immunol. 2023. PMID: 36462956 Free article.
Genomic testing identifies monogenic causes in patients with very early-onset inflammatory bowel disease: a multicenter survey in an Iranian cohort.
Eslamian G, Jamee M, Momen T, Rohani P, Ebrahimi S, Mesdaghi M, Ghadimi S, Mansouri M, Mahdaviani SA, Sadeghi-Shabestari M, Fallahpour M, Shamsian BS, Eslami N, Sharafian S, Dara N, Nasri P, Amini N, Enayat J, Fallahi M, Ghasemi Hashtrodi L, Shojaei M, Guevara Becerra M, Uhlig HH, Chavoshzadeh Z. Eslamian G, et al. Among authors: uhlig hh. Clin Exp Immunol. 2024 Jun 20;217(1):1-11. doi: 10.1093/cei/uxae037. Clin Exp Immunol. 2024. PMID: 38651248
Human MD2 deficiency-an inborn error of immunity with pleiotropic features.
Li Y, Yu Z, Schenk M, Lagovsky I, Illig D, Walz C, Rohlfs M, Conca R, Muise AM, Snapper SB, Uhlig HH, Garty BZ, Klein C, Kotlarz D. Li Y, et al. Among authors: uhlig hh. J Allergy Clin Immunol. 2023 Mar;151(3):791-796.e7. doi: 10.1016/j.jaci.2022.09.033. Epub 2022 Nov 30. J Allergy Clin Immunol. 2023. PMID: 36462957
Incidence, Management, and Outcomes of Very Early Onset Inflammatory Bowel Diseases and Infantile-Onset Disease: An Epi-IIRN Study.
Atia O, Benchimol EI, Ledderman N, Greenfeld S, Kariv R, Weisband YL, Matz E, Ollech J, Dotan I, Assa A, Shouval DS, Uhlig HH, Muise AM, Olén O, Kuenzig ME, Kaplan GG, Turner D. Atia O, et al. Among authors: uhlig hh. Clin Gastroenterol Hepatol. 2023 Sep;21(10):2639-2648.e6. doi: 10.1016/j.cgh.2022.10.026. Epub 2022 Nov 3. Clin Gastroenterol Hepatol. 2023. PMID: 36336312
A longitudinal single-cell atlas of anti-tumour necrosis factor treatment in inflammatory bowel disease.
Thomas T, Friedrich M, Rich-Griffin C, Pohin M, Agarwal D, Pakpoor J, Lee C, Tandon R, Rendek A, Aschenbrenner D, Jainarayanan A, Voda A, Siu JHY, Sanches-Peres R, Nee E, Sathananthan D, Kotliar D, Todd P, Kiourlappou M, Gartner L, Ilott N, Issa F, Hester J, Turner J, Nayar S, Mackerodt J, Zhang F, Jonsson A, Brenner M, Raychaudhuri S, Kulicke R, Ramsdell D, Stransky N, Pagliarini R, Bielecki P, Spies N, Marsden B, Taylor S, Wagner A, Klenerman P, Walsh A, Coles M, Jostins-Dean L, Powrie FM, Filer A, Travis S, Uhlig HH, Dendrou CA, Buckley CD. Thomas T, et al. Among authors: uhlig hh. Nat Immunol. 2024 Nov;25(11):2152-2165. doi: 10.1038/s41590-024-01994-8. Epub 2024 Oct 22. Nat Immunol. 2024. PMID: 39438660 Free PMC article.
162 results