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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. 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.
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.
French CE, Delon I, Dolling H, Sanchis-Juan A, Shamardina O, Mégy K, Abbs S, Austin T, Bowdin S, Branco RG, Firth H; NIHR BioResource—Rare Disease; Next Generation Children Project; Rowitch DH, Raymond FL. French CE, et al. Intensive Care Med. 2019 May;45(5):627-636. doi: 10.1007/s00134-019-05552-x. Epub 2019 Mar 7. Intensive Care Med. 2019. PMID: 30847515 Free PMC article.
ADA2 deficiency complicated by EBV-driven lymphoproliferative disease.
Staples E, Simeoni I, Stephens JC, Allen HL; NIHR-BioResource; Wright P, Davies EG, Javid B, Gkrania-Klotsas E, Gattens M, Firth H, Shamardina O, Deevi SVV, Prapa M, Uttenthal B, Kumararatne D, Thaventhiran JED. Staples E, et al. Among authors: prapa m. Clin Immunol. 2020 Jun;215:108443. doi: 10.1016/j.clim.2020.108443. Epub 2020 Apr 27. Clin Immunol. 2020. PMID: 32353633 Free PMC article.
Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders.
Truelove A, Mulay A, Prapa M, Casey RT, Adler AI, Offiah AC, Poole KES, Trotman J, Al Hasso N, Park SM. Truelove A, et al. Among authors: prapa m. Am J Med Genet A. 2019 Jul;179(7):1330-1337. doi: 10.1002/ajmg.a.61163. Epub 2019 May 1. Am J Med Genet A. 2019. PMID: 31041856 Free article.
49 results