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578 results

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Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.
Martin-Geary AC, Blakes AJM, Dawes R, Findlay SD, Lord J, Walker S, Talbot-Martin J, Wieder N, D'Souza EN, Fernandes M, Hilton S, Lahiri N, Campbell C, Jenkinson S, DeGoede CGEL, Anderson ER, Burge CB, Sanders SJ, Ellingford J, Baralle D, Banka S, Whiffin N. Martin-Geary AC, et al. Among authors: hilton s. medRxiv [Preprint]. 2023 Sep 12:2023.09.12.23295416. doi: 10.1101/2023.09.12.23295416. medRxiv. 2023. PMID: 37745552 Free PMC article. Preprint.
Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features.
Ansari M, Faour KNW, Shimamura A, Grimes G, Kao EM, Denhoff ER, Blatnik A, Ben-Isvy D, Wang L, Helm BM, Firth H, Breman AM, Bijlsma EK, Iwata-Otsubo A, de Ravel TJL, Fusaro V, Fryer A, Nykamp K, Stühn LG, Haack TB, Korenke GC, Constantinou P, Bujakowska KM, Low KJ, Place E, Humberson J, Napier MP, Hoffman J, Juusola J, Deardorff MA, Shao W, Rockowitz S, Krantz I, Kaur M, Raible S, Kliesch S, Singer-Berk M, Groopman E, DiTroia S, Ballal S, Srivastava S, Rothfelder K, Biskup S, Rzasa J, Kerkhof J, McConkey H, O'Donnell-Luria A, Sadikovic B, Hilton S, Banka S, Tüttelmann F, Conrad D, Talkowski ME, FitzPatrick DR, Boone PM. Ansari M, et al. Among authors: hilton s. medRxiv [Preprint]. 2023 Sep 28:2023.09.27.23294269. doi: 10.1101/2023.09.27.23294269. medRxiv. 2023. PMID: 37808847 Free PMC article. Updated. Preprint.
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
Kerkhof J, Rastin C, Levy MA, Relator R, McConkey H, Demain L, Dominguez-Garrido E, Kaat LD, Houge SD, DuPont BR, Fee T, Fletcher RS, Gokhale D, Haukanes BI, Henneman P, Hilton S, Hilton BA, Jenkinson S, Lee JA, Louie RJ, Motazacker MM, Rzasa J, Stevenson RE, Plomp A, van der Laan L, van der Smagt J, Walden KK, Banka S, Mannens M, Skinner SA, Friez MJ, Campbell C, Tedder ML, Alders M, Sadikovic B. Kerkhof J, et al. Among authors: hilton s. Genet Med. 2024 May;26(5):101075. doi: 10.1016/j.gim.2024.101075. Epub 2024 Jan 18. Genet Med. 2024. PMID: 38251460
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
Ansari M, Faour KNW, Shimamura A, Grimes G, Kao EM, Denhoff ER, Blatnik A, Ben-Isvy D, Wang L, Helm BM, Firth H, Breman AM, Bijlsma EK, Iwata-Otsubo A, de Ravel TJL, Fusaro V, Fryer A, Nykamp K, Stühn LG, Haack TB, Korenke GC, Constantinou P, Bujakowska KM, Low KJ, Place E, Humberson J, Napier MP, Hoffman J, Juusola J, Deardorff MA, Shao W, Rockowitz S, Krantz I, Kaur M, Raible S, Dortenzio V, Kliesch S, Singer-Berk M, Groopman E, DiTroia S, Ballal S, Srivastava S, Rothfelder K, Biskup S, Rzasa J, Kerkhof J, McConkey H, Sadikovic B, Hilton S, Banka S, Tüttelmann F, Conrad DF, O'Donnell-Luria A, Talkowski ME, FitzPatrick DR, Boone PM. Ansari M, et al. Among authors: hilton s. HGG Adv. 2024 Apr 11;5(2):100273. doi: 10.1016/j.xhgg.2024.100273. Epub 2024 Jan 30. HGG Adv. 2024. PMID: 38297832 Free PMC article.
Specific and off-target immune responses following COVID-19 vaccination with ChAdOx1-S and BNT162b2 vaccines-an exploratory sub-study of the BRACE trial.
Messina NL, Germano S, McElroy R, Bonnici R, Grubor-Bauk B, Lynn DJ, McDonald E, Nicholson S, Perrett KP, Pittet LF, Rudraraju R, Stevens NE, Subbarao K, Curtis N; BRACE trial. Messina NL, et al. EBioMedicine. 2024 Apr 23;103:105100. doi: 10.1016/j.ebiom.2024.105100. Online ahead of print. EBioMedicine. 2024. PMID: 38663355 Free PMC article.
Drug-regulated CD33-targeted CAR T cells control AML using clinically optimized rapamycin dosing.
Appelbaum J, Price AE, Oda K, Zhang J, Leung WH, Tampella G, Xia D, So PP, Hilton SK, Evandy C, Sarkar S, Martin U, Krostag AR, Leonardi M, Zak DE, Logan R, Lewis P, Franke-Welch S, Ngwenyama N, Fitzgerald M, Tulberg N, Rawlings-Rhea S, Gardner RA, Jones K, Sanabria A, Crago W, Timmer J, Hollands A, Eckelman B, Bilic S, Woodworth J, Lamble A, Gregory PD, Jarjour J, Pogson M, Gustafson JA, Astrakhan A, Jensen MC. Appelbaum J, et al. Among authors: hilton sk. J Clin Invest. 2024 Mar 19;134(9):e162593. doi: 10.1172/JCI162593. J Clin Invest. 2024. PMID: 38502193 Free PMC article. Clinical Trial.
"Arming half-baked people with weapons!" Information enclaving among professionals and the need for a care-centred model for antibiotic use information in Uganda, Tanzania and Malawi.
Nayiga S, MacPherson EE, Mankhomwa J, Nasuwa F, Pongolani R, Kabuleta R, Kesby M, Dacombe R, Hilton S, Grace D, Feasey N, Chandler CIR. Nayiga S, et al. Among authors: hilton s. Glob Health Action. 2024 Dec 31;17(1):2322839. doi: 10.1080/16549716.2024.2322839. Epub 2024 Mar 5. Glob Health Action. 2024. PMID: 38441912 Free PMC article.
578 results