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Page 1
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645 Free PMC article.
Distinct Platelet Ribonucleic Acid Signatures in Patients with Pulmonary Hypertension.
Smits AJ, Arkani M, In 't Veld SGJG, Huis In 't Veld AE, Sol N, Groeneveldt JA, Botros L, Braams NJ, Jansen SMA, Ramaker J, Zwaan K, Post E, Nossent EJ, Boonstra A, de Man FS, Vonk Noordegraaf A, Gomez-Arroyo J, Best MG, Wurdinger T, Bogaard HJ. Smits AJ, et al. Among authors: huis in t veld ae. Ann Am Thorac Soc. 2022 Oct;19(10):1650-1660. doi: 10.1513/AnnalsATS.202201-085OC. Ann Am Thorac Soc. 2022. PMID: 35537078
Clinical Characteristics of Patients Undergoing Right Heart Catheterizations in Community Hospitals.
Jansen SMA, Huis In 't Veld AE, Tolen PHCG, Jacobs W, Willemsen HM, Grotjohan HP, Waskowsky M, van der Maten J, van der Weerdt A, Hoekstra R, Pérez Matos AJ, Overbeek MJ, Mollema SA, El Bouazzaoui LHH, Vriend JWJ, Roorda JMM, de Nooijer R, van der Lee I, Voogel AJ, Post JC, Macken T, Aerts JM, van de Ven MJT, Bergman H, Bakker-de Boo M, de Boer RC, Vonk Noordegraaf A, de Man FS, Bogaard HJ. Jansen SMA, et al. Among authors: huis in t veld ae. J Am Heart Assoc. 2022 Sep 6;11(17):e025143. doi: 10.1161/JAHA.121.025143. Epub 2022 Sep 5. J Am Heart Assoc. 2022. PMID: 36062610 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.
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
Whitworth J, Smith PS, Martin JE, West H, Luchetti A, Rodger F, Clark G, Carss K, Stephens J, Stirrups K, Penkett C, Mapeta R, Ashford S, Megy K, Shakeel H, Ahmed M, Adlard J, Barwell J, Brewer C, Casey RT, Armstrong R, Cole T, Evans DG, Fostira F, Greenhalgh L, Hanson H, Henderson A, Hoffman J, Izatt L, Kumar A, Kwong A, Lalloo F, Ong KR, Paterson J, Park SM, Chen-Shtoyerman R, Searle C, Side L, Skytte AB, Snape K, Woodward ER; NIHR BioResource Rare Diseases Consortium; Tischkowitz MD, Maher ER. Whitworth J, et al. Am J Hum Genet. 2018 Jul 5;103(1):3-18. doi: 10.1016/j.ajhg.2018.04.013. Epub 2018 Jun 14. Am J Hum Genet. 2018. PMID: 29909963 Free PMC article.
Noninvasive Prediction of Elevated Wedge Pressure in Pulmonary Hypertension Patients Without Clear Signs of Left-Sided Heart Disease: External Validation of the OPTICS Risk Score.
Jansen SMA, Huis In 't Veld AE, Jacobs W, Grotjohan HP, Waskowsky M, van der Maten J, van der Weerdt A, Hoekstra R, Overbeek MJ, Mollema SA, Tolen PHCG, Hassan El Bouazzaoui LH, Vriend JWJ, Roorda JMM, de Nooijer R, van der Lee I, Voogel BAJ, Peels K, Macken T, Aerts JM, Vonk Noordegraaf A, Handoko ML, de Man FS, Bogaard HJ. Jansen SMA, et al. Among authors: huis in t veld ae. J Am Heart Assoc. 2020 Aug 4;9(15):e015992. doi: 10.1161/JAHA.119.015992. Epub 2020 Jul 31. J Am Heart Assoc. 2020. PMID: 32750312 Free PMC article.
19 results