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First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease.
Prapa M, Lago-Docampo M, Swietlik EM, Montani D, Eyries M, Humbert M, Welch CL, Chung WK, Berger RMF, Bogaard HJ, Danhaive O, Escribano-Subías P, Gall H, Girerd B, Hernandez-Gonzalez I, Holden S, Hunt D, Jansen SMA, Kerstjens-Frederikse W, Kiely DG, Lapunzina P, McDermott J, Moledina S, Pepke-Zaba J, Polwarth GJ, Schotte G, Tenorio-Castaño J, Thompson AAR, Wharton J, Wort SJ, Megy K, Mapeta R, Treacy CM, Martin JM, Li W, Swift AJ, Upton PD, Morrell NW, Gräf S, Valverde D; NIHR BioResource for Translational Research–Rare Diseases; National Cohort Study of Idiopathic and Heritable PAH; PAH Biobank Enrolling Centers’ Investigators. Prapa M, et al. Among authors: mcdermott j. Am J Respir Crit Care Med. 2022 Dec 15;206(12):1522-1533. doi: 10.1164/rccm.202203-0485OC. Am J Respir Crit Care Med. 2022. PMID: 35852389 Free PMC article.
Letters to the Editor.
McDermott JH, Newman WG. McDermott JH, et al. J Paediatr Child Health. 2023 Mar;59(3):600. doi: 10.1111/jpc.16376. Epub 2023 Feb 13. J Paediatr Child Health. 2023. PMID: 36779317 No abstract available.
Patient and public involvement in hearing research: opportunities, impact and reflections with case studies from the Manchester Centre for Audiology and Deafness.
Dawes P, Arru P, Corry R, McDermott JH, Garlick J, Guest H, Howlett E, Jackson I, James R, Keane A, Murray C, Newman W, Visram A, Munro KJ. Dawes P, et al. Among authors: mcdermott jh. Int J Audiol. 2024 Feb;63(2):146-154. doi: 10.1080/14992027.2022.2155881. Epub 2022 Dec 26. Int J Audiol. 2024. PMID: 36573267
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
Szot JO, Cuny H, Martin EM, Sheng DZ, Iyer K, Portelli S, Nguyen V, Gereis JM, Alankarage D, Chitayat D, Chong K, Wentzensen IM, Vincent-Delormé C, Lermine A, Burkitt-Wright E, Ji W, Jeffries L, Pais LS, Tan TY, Pitt J, Wise CA, Wright H, Andrews ID, Pruniski B, Grebe TA, Corsten-Janssen N, Bouman K, Poulton C, Prakash S, Keren B, Brown NJ, Hunter MF, Heath O, Lakhani SA, McDermott JH, Ascher DB, Chapman G, Bozon K, Dunwoodie SL. Szot JO, et al. Among authors: mcdermott jh. J Clin Invest. 2024 Feb 15;134(4):e174824. doi: 10.1172/JCI174824. J Clin Invest. 2024. PMID: 38357931 Free PMC article.
Cause-Specific Health Care Costs Following Hospitalization for Heart Failure and Cost Offset With SGLT2i Therapy.
Kittipibul V, Vaduganathan M, Ikeaba U, Chiswell K, Butler J, DeVore AD, Heidenreich PA, Huang JC, Kittleson MM, Joynt Maddox KE, Linganathan KK, McDermott JJ, Owens AT, Peterson PN, Solomon SD, Vardeny O, Yancy CW, Fonarow GC, Greene SJ. Kittipibul V, et al. Among authors: mcdermott jj. JACC Heart Fail. 2024 Apr 6:S2213-1779(24)00268-3. doi: 10.1016/j.jchf.2024.04.003. Online ahead of print. JACC Heart Fail. 2024. PMID: 38727651
1,252 results