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Items: 1 to 20 of 63

1.

Chronic thromboembolic pulmonary hypertension following long-term peripherally inserted central venous catheter use.

Masding A, Preston SD, Toshner M, Barnett J, Harries C, Dimopoulos K, Kempny A, McCabe C, Jenkins DP, Wort SJ, Price LC.

Pulm Circ. 2019 Apr-Jun;9(2):2045894019859474. doi: 10.1177/2045894019859474.

2.

Germline selection shapes human mitochondrial DNA diversity.

Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP, Bitner-Glindzicz MAK, Black GC, Brennan P, Elliott P, Flinter FA, Floto RA, Houlden H, Irving M, Koziell A, Maher ER, Markus HS, Morrell NW, Newman WG, Roberts I, Sayer JA, Smith KGC, Taylor JC, Watkins H, Webster AR, Wilkie AOM, Williamson C; NIHR BioResource–Rare Diseases; 100,000 Genomes Project–Rare Diseases Pilot, Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E, Chinnery PF.

Science. 2019 May 24;364(6442). pii: eaau6520. doi: 10.1126/science.aau6520. Epub 2019 May 23.

3.

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.

Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11.

PMID:
30982612
4.

Traffic exposures, air pollution and outcomes in pulmonary arterial hypertension: a UK cohort study analysis.

Sofianopoulou E, Kaptoge S, Gräf S, Hadinnapola C, Treacy CM, Church C, Coghlan G, Gibbs JSR, Haimel M, Howard LS, Johnson M, Kiely DG, Lawrie A, Lordan J, MacKenzie Ross RV, Martin JM, Moledina S, Newnham M, Peacock AJ, Price LC, Rhodes CJ, Suntharalingam J, Swietlik EM, Toshner MR, Wharton J, Wilkins MR, Wort SJ, Pepke-Zaba J, Condliffe R, Corris PA, Di Angelantonio E, Provencher S, Morrell NW.

Eur Respir J. 2019 May 30;53(5). pii: 1801429. doi: 10.1183/13993003.01429-2018. Print 2019 May.

PMID:
30923185
5.

Tricuspid regurgitation and the right ventricle: risk stratification and timing of intervention.

Rana B, Robinson S, Francis R, Toshner M, Swaans MJ, Agarwal S, De Silva R, Rana AA, Nihoyannopoulos P.

Echo Res Pract. 2019 Feb 1. pii: ERP-18-0051.R1. doi: 10.1530/ERP-18-0051. [Epub ahead of print] Review.

6.

The ADAMTS13-VWF axis is dysregulated in chronic thromboembolic pulmonary hypertension.

Newnham M, South K, Bleda M, Auger WR, Barberà JA, Bogaard H, Bunclark K, Cannon JE, Delcroix M, Hadinnapola C, Howard LS, Jenkins D, Mayer E, Ng C, Rhodes CJ, Screaton N, Sheares K, Simpson MA, Southwood M, Su L, Taboada D, Traylor M, Trembath RC, Villar SS, Wilkins MR, Wharton J, Gräf S, Pepke-Zaba J, Laffan M, Lane DA, Morrell NW, Toshner M.

Eur Respir J. 2019 Mar 28;53(3). pii: 1801805. doi: 10.1183/13993003.01805-2018. Print 2019 Mar.

7.

Myeloid angiogenic cells exhibit impaired migration, reduced expression of endothelial markers, and increased apoptosis in idiopathic pulmonary arterial hypertension 1.

Zhang Q, Zucco L, Toshner M, Morrell NW, Granton J, Stewart DJ, Kutryk MJB.

Can J Physiol Pharmacol. 2019 Apr;97(4):306-312. doi: 10.1139/cjpp-2018-0424. Epub 2018 Dec 17.

PMID:
30557040
8.

Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis.

Rhodes CJ, Batai K, Bleda M, Haimel M, Southgate L, Germain M, Pauciulo MW, Hadinnapola C, Aman J, Girerd B, Arora A, Knight J, Hanscombe KB, Karnes JH, Kaakinen M, Gall H, Ulrich A, Harbaum L, Cebola I, Ferrer J, Lutz K, Swietlik EM, Ahmad F, Amouyel P, Archer SL, Argula R, Austin ED, Badesch D, Bakshi S, Barnett C, Benza R, Bhatt N, Bogaard HJ, Burger CD, Chakinala M, Church C, Coghlan JG, Condliffe R, Corris PA, Danesino C, Debette S, Elliott CG, Elwing J, Eyries M, Fortin T, Franke A, Frantz RP, Frost A, Garcia JGN, Ghio S, Ghofrani HA, Gibbs JSR, Harley J, He H, Hill NS, Hirsch R, Houweling AC, Howard LS, Ivy D, Kiely DG, Klinger J, Kovacs G, Lahm T, Laudes M, Machado RD, MacKenzie Ross RV, Marsolo K, Martin LJ, Moledina S, Montani D, Nathan SD, Newnham M, Olschewski A, Olschewski H, Oudiz RJ, Ouwehand WH, Peacock AJ, Pepke-Zaba J, Rehman Z, Robbins I, Roden DM, Rosenzweig EB, Saydain G, Scelsi L, Schilz R, Seeger W, Shaffer CM, Simms RW, Simon M, Sitbon O, Suntharalingam J, Tang H, Tchourbanov AY, Thenappan T, Torres F, Toshner MR, Treacy CM, Vonk Noordegraaf A, Waisfisz Q, Walsworth AK, Walter RE, Wharton J, White RJ, Wilt J, Wort SJ, Yung D, Lawrie A, Humbert M, Soubrier F, Trégouët DA, Prokopenko I, Kittles R, Gräf S, Nichols WC, Trembath RC, Desai AA, Morrell NW, Wilkins MR; UK NIHR BioResource Rare Diseases Consortium; UK PAH Cohort Study Consortium; US PAH Biobank Consortium.

Lancet Respir Med. 2019 Mar;7(3):227-238. doi: 10.1016/S2213-2600(18)30409-0. Epub 2018 Dec 5.

9.

Limitations of resting haemodynamics in chronic thromboembolic disease without pulmonary hypertension.

Swietlik EM, Ruggiero A, Fletcher AJ, Taboada D, Knightbridge E, Harlow L, Harvey I, Screaton N, Cannon JE, Sheares KKK, Ng C, Jenkins DP, Pepke-Zaba J, Toshner MR.

Eur Respir J. 2019 Jan 17;53(1). pii: 1801787. doi: 10.1183/13993003.01787-2018. Print 2019 Jan. No abstract available.

PMID:
30409818
10.

BMP9 Morphs into a Potential Player in Portopulmonary Hypertension.

Toshner M.

Am J Respir Crit Care Med. 2019 Apr 1;199(7):819-821. doi: 10.1164/rccm.201810-1886ED. No abstract available.

11.

Increased Antielastase Activity in Idiopathic Pulmonary Arterial Hypertension and Chronic Thromboembolic Pulmonary Hypertension.

Guo J, Lodge K, Newnham M, Bunclark K, Toshner M, Morrell NW, Li W.

Am J Respir Cell Mol Biol. 2018 Nov;59(5):652-655. doi: 10.1165/rcmb.2018-0060LE. No abstract available.

12.

Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension.

Bohnen MS, Ma L, Zhu N, Qi H, McClenaghan C, Gonzaga-Jauregui C, Dewey FE, Overton JD, Reid JG, Shuldiner AR, Baras A, Sampson KJ, Bleda M, Hadinnapola C, Haimel M, Bogaard HJ, Church C, Coghlan G, Corris PA, Eyries M, Gibbs JSR, Girerd B, Houweling AC, Humbert M, Guignabert C, Kiely DG, Lawrie A, MacKenzie Ross RV, Martin JM, Montani D, Peacock AJ, Pepke-Zaba J, Soubrier F, Suntharalingam J, Toshner M, Treacy CM, Trembath RC, Vonk Noordegraaf A, Wharton J, Wilkins MR, Wort SJ, Yates K, Gräf S, Morrell NW, Krishnan U, Rosenzweig EB, Shen Y, Nichols CG, Kass RS, Chung WK.

Circ Genom Precis Med. 2018 Oct;11(10):e002087. doi: 10.1161/CIRCGEN.118.002087.

13.

Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.

Farmery JHR, Smith ML; NIHR BioResource - Rare Diseases, Lynch AG.

Sci Rep. 2018 Sep 3;8(1):13376. doi: 10.1038/s41598-018-31524-0.

14.

Hematopoietic stem cell transplantation alters susceptibility to pulmonary hypertension in Bmpr2-deficient mice.

Crosby A, Toshner MR, Southwood MR, Soon E, Dunmore BJ, Groves E, Moore S, Wright P, Ottersbach K, Bennett C, Guerrero J, Ghevaert C, Morrell NW.

Pulm Circ. 2018 Oct-Dec;8(4):2045894018801642. doi: 10.1177/2045894018801642. Epub 2018 Aug 30.

15.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.

Ito Y, Carss KJ, Duarte ST, Hartley T, Keren B, Kurian MA, Marey I, Charles P, Mendonça C, Nava C, Pfundt R, Sanchis-Juan A, van Bokhoven H, van Essen A, van Ravenswaaij-Arts C; NIHR BioResource; Care4Rare Canada Consortium, Boycott KM, Kernohan KD, Dyack S, Raymond FL.

Am J Hum Genet. 2018 Jul 5;103(1):144-153. doi: 10.1016/j.ajhg.2018.06.001. Epub 2018 Jun 28.

16.

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.

Am J Hum Genet. 2018 Jul 5;103(1):3-18. doi: 10.1016/j.ajhg.2018.04.013. Epub 2018 Jun 14.

17.

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

Gräf S, Haimel M, Bleda M, Hadinnapola C, Southgate L, Li W, Hodgson J, Liu B, Salmon RM, Southwood M, Machado RD, Martin JM, Treacy CM, Yates K, Daugherty LC, Shamardina O, Whitehorn D, Holden S, Aldred M, Bogaard HJ, Church C, Coghlan G, Condliffe R, Corris PA, Danesino C, Eyries M, Gall H, Ghio S, Ghofrani HA, Gibbs JSR, Girerd B, Houweling AC, Howard L, Humbert M, Kiely DG, Kovacs G, MacKenzie Ross RV, Moledina S, Montani D, Newnham M, Olschewski A, Olschewski H, Peacock AJ, Pepke-Zaba J, Prokopenko I, Rhodes CJ, Scelsi L, Seeger W, Soubrier F, Stein DF, Suntharalingam J, Swietlik EM, Toshner MR, van Heel DA, Vonk Noordegraaf A, Waisfisz Q, Wharton J, Wort SJ, Ouwehand WH, Soranzo N, Lawrie A, Upton PD, Wilkins MR, Trembath RC, Morrell NW.

Nat Commun. 2018 Apr 12;9(1):1416. doi: 10.1038/s41467-018-03672-4.

18.

The outcome of reoperative pulmonary endarterectomy surgery.

Ali JM, Dunning J, Ng C, Tsui S, Cannon JE, Sheares KK, Taboada D, Toshner M, Screaton N, Pepke-Zaba J, Jenkins DP.

Interact Cardiovasc Thorac Surg. 2018 Jun 1;26(6):932-937. doi: 10.1093/icvts/ivx424.

PMID:
29373658
19.

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.

Farmery JHR, Smith ML; NIHR BioResource - Rare Diseases, Lynch AG.

Sci Rep. 2018 Jan 22;8(1):1300. doi: 10.1038/s41598-017-14403-y. Erratum in: Sci Rep. 2018 Sep 3;8(1):13376.

20.

The potential effects of pregnancy in a patient with idiopathic pulmonary arterial hypertension responding to calcium channel blockade.

Bostock S, Sheares K, Cannon J, Taboada D, Pepke-Zaba J, Toshner M.

Eur Respir J. 2017 Dec 14;50(6). pii: 1701141. doi: 10.1183/13993003.01141-2017. Print 2017 Dec. No abstract available.

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