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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: megy k. 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.
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium; Webster AR, Raymond FL. Carss KJ, et al. Among authors: megy k. Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29. Am J Hum Genet. 2017. PMID: 28041643 Free PMC article.
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.
Arno G, Carss KJ, Hull S, Zihni C, Robson AG, Fiorentino A; UK Inherited Retinal Disease Consortium; Hardcastle AJ, Holder GE, Cheetham ME, Plagnol V; NIHR Bioresource - Rare Diseases Consortium; Moore AT, Raymond FL, Matter K, Balda MS, Webster AR. Arno G, et al. Am J Hum Genet. 2017 Feb 2;100(2):334-342. doi: 10.1016/j.ajhg.2016.12.014. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132693 Free PMC article.
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.
Hadinnapola C, Bleda M, Haimel M, Screaton N, Swift A, Dorfmüller P, Preston SD, Southwood M, Hernandez-Sanchez J, Martin J, Treacy C, Yates K, Bogaard H, Church C, Coghlan G, Condliffe R, Corris PA, Gibbs S, Girerd B, Holden S, Humbert M, Kiely DG, Lawrie A, Machado R, MacKenzie Ross R, Moledina S, Montani D, Newnham M, Peacock A, Pepke-Zaba J, Rayner-Matthews P, Shamardina O, Soubrier F, Southgate L, Suntharalingam J, Toshner M, Trembath R, Vonk Noordegraaf A, Wilkins MR, Wort SJ, Wharton J; NIHR BioResource–Rare Diseases Consortium; UK National Cohort Study of Idiopathic and Heritable PAH; Gräf S, Morrell NW. Hadinnapola C, et al. Circulation. 2017 Nov 21;136(21):2022-2033. doi: 10.1161/CIRCULATIONAHA.117.028351. Epub 2017 Sep 28. Circulation. 2017. PMID: 28972005 Free PMC article.
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans.
Tuijnenburg P, Lango Allen H, Burns SO, Greene D, Jansen MH, Staples E, Stephens J, Carss KJ, Biasci D, Baxendale H, Thomas M, Chandra A, Kiani-Alikhan S, Longhurst HJ, Seneviratne SL, Oksenhendler E, Simeoni I, de Bree GJ, Tool ATJ, van Leeuwen EMM, Ebberink EHTM, Meijer AB, Tuna S, Whitehorn D, Brown M, Turro E, Thrasher AJ, Smith KGC, Thaventhiran JE, Kuijpers TW; NIHR BioResource–Rare Diseases Consortium. Tuijnenburg P, et al. J Allergy Clin Immunol. 2018 Oct;142(4):1285-1296. doi: 10.1016/j.jaci.2018.01.039. Epub 2018 Mar 2. J Allergy Clin Immunol. 2018. PMID: 29477724 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. Among authors: megy k. 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.
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH.
Megy K, Downes K, Simeoni I, Bury L, Morales J, Mapeta R, Bellissimo DB, Bray PF, Goodeve AC, Gresele P, Lambert M, Reitsma P, Ouwehand WH, Freson K; Subcommittee on Genomics in Thrombosis and Hemostasis. Megy K, et al. J Thromb Haemost. 2019 Aug;17(8):1253-1260. doi: 10.1111/jth.14479. Epub 2019 Jun 9. J Thromb Haemost. 2019. PMID: 31179617 Free PMC article. No abstract available.
76 results