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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
100,000 Genomes Project Pilot Investigators; Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmström K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Gräf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi H, Haque … See abstract for full author list ➔ 100,000 Genomes Project Pilot Investigators, et al. Among authors: thapar n. N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi: 10.1056/NEJMoa2035790. N Engl J Med. 2021. PMID: 34758253 Free PMC article.
Multi-disciplinary Insights from the First European Forum on Visceral Myopathy 2022 Meeting.
Viti F, De Giorgio R, Ceccherini I, Ahluwalia A, Alves MM, Baldo C, Baldussi G, Bonora E, Borrelli O, Dall'Oglio L, De Coppi P, De Filippo C, de Santa Barbara P, Diamanti A, Di Lorenzo C, Di Maulo R, Galeone A, Gandullia P, Hashmi SK, Lacaille F, Lancon L, Leone S, Mahé MM, Molnar MJ, Palmitelli A, Perin S, Prato AP, Thapar N, Vassalli M, Heuckeroth RO. Viti F, et al. Among authors: thapar n. Dig Dis Sci. 2023 Oct;68(10):3857-3871. doi: 10.1007/s10620-023-08066-1. Epub 2023 Aug 31. Dig Dis Sci. 2023. PMID: 37650948 Free PMC article. Review.
Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease.
Serra EG, Schwerd T, Moutsianas L, Cavounidis A, Fachal L, Pandey S, Kammermeier J, Croft NM, Posovszky C, Rodrigues A, Russell RK, Barakat F, Auth MKH, Heuschkel R, Zilbauer M, Fyderek K, Braegger C, Travis SP, Satsangi J, Parkes M, Thapar N, Ferry H, Matte JC, Gilmour KC, Wedrychowicz A, Sullivan P, Moore C, Sambrook J, Ouwehand W, Roberts D, Danesh J, Baeumler TA, Fulga TA, Carrami EM, Ahmed A, Wilson R, Barrett JC, Elkadri A, Griffiths AM; COLORS in IBD group investigators; Oxford IBD cohort study investigators; INTERVAL Study; Swiss IBD cohort investigators; UK IBD Genetics Consortium; NIDDK IBD Genetics Consortium; Snapper SB, Shah N, Muise AM, Wilson DC, Uhlig HH, Anderson CA. Serra EG, et al. Among authors: thapar n. Nat Commun. 2020 Feb 21;11(1):995. doi: 10.1038/s41467-019-14275-y. Nat Commun. 2020. PMID: 32081864 Free PMC article.
Systematic review and meta-analysis: the incidence and prevalence of paediatric coeliac disease across Europe.
Roberts SE, Morrison-Rees S, Thapar N, Benninga MA, Borrelli O, Broekaert I, Dolinsek J, Martin-de-Carpi J, Mas E, Miele E, Pienar C, Ribes-Koninckx C, Thomassen RA, Thomson M, Tzivinikos C, Thorne K, John A, Williams JG. Roberts SE, et al. Among authors: thapar n. Aliment Pharmacol Ther. 2021 Jul;54(2):109-128. doi: 10.1111/apt.16337. Epub 2021 Jun 11. Aliment Pharmacol Ther. 2021. PMID: 34115894 Review.
Management of Gastrointestinal and Nutritional Problems in Children With Neurological Impairment: A Survey of Practice.
Romano C, Dipasquale V, Van Winckel M, Hulst J, Broekaert I, Bronsky J, Dall'Oglio L, Mis NF, Hojsak I, Orel R, Papadopoulou A, Schaeppi M, Thapar N, Wilschanski M, Sullivan P, Gottrand F. Romano C, et al. Among authors: thapar n. J Pediatr Gastroenterol Nutr. 2021 Apr 1;72(4):e97-e101. doi: 10.1097/MPG.0000000000003020. J Pediatr Gastroenterol Nutr. 2021. PMID: 33346573
European guideline on indications, performance and clinical impact of 13 C-breath tests in adult and pediatric patients: An EAGEN, ESNM, and ESPGHAN consensus, supported by EPC.
Keller J, Hammer HF, Afolabi PR, Benninga M, Borrelli O, Dominguez-Munoz E, Dumitrascu D, Goetze O, Haas SL, Hauser B, Pohl D, Salvatore S, Sonyi M, Thapar N, Verbeke K, Fox MR; European 13C-breath test group. Keller J, et al. Among authors: thapar n. United European Gastroenterol J. 2021 Jun;9(5):598-625. doi: 10.1002/ueg2.12099. Epub 2021 Jun 14. United European Gastroenterol J. 2021. PMID: 34128346 Free PMC article. Review.
Engineering transplantable jejunal mucosal grafts using patient-derived organoids from children with intestinal failure.
Meran L, Massie I, Campinoti S, Weston AE, Gaifulina R, Tullie L, Faull P, Orford M, Kucharska A, Baulies A, Novellasdemunt L, Angelis N, Hirst E, König J, Tedeschi AM, Pellegata AF, Eli S, Snijders AP, Collinson L, Thapar N, Thomas GMH, Eaton S, Bonfanti P, De Coppi P, Li VSW. Meran L, et al. Among authors: thapar n. Nat Med. 2020 Oct;26(10):1593-1601. doi: 10.1038/s41591-020-1024-z. Epub 2020 Sep 7. Nat Med. 2020. PMID: 32895569 Free PMC article.
176 results