المؤلفون: Zhu, N, Swietlik, EM, Welch, CL, Pauciulo, MW, Hagen, JJ, Zhou, X, Guo, Y, Karten, J, Pandya, D, Tilly, T, Lutz, KA, Martin, JM, Treacy, CM, Rosenzweig, EB, Krishnan, U, Coleman, AW, Gonzaga-Jauregui, C, Lawrie, A, Trembath, RC, Wilkins, MR, Regeneron Genetics Center, PAH Biobank Enrolling Centers’ Investigators, NIHR BioResource for Translational Research - Rare Diseases, National Cohort Study of Idiopathic and Heritable PAH, Morrell, NW, Shen, Y, Gräf, S, Nichols, WC, Chung, WK

وصف الملف: application/pdf; application/vnd.ms-powerpoint; application/vnd.openxmlformats-officedocument.wordprocessingml.document

Relation: https://openaccess.sgul.ac.uk/id/eprint/113408/1/s13073-021-00891-1.pdf; https://openaccess.sgul.ac.uk/id/eprint/113408/9/13073_2021_891_MOESM1_ESM.pptx; https://openaccess.sgul.ac.uk/id/eprint/113408/10/13073_2021_891_MOESM2_ESM.docx; Zhu, N; Swietlik, EM; Welch, CL; Pauciulo, MW; Hagen, JJ; Zhou, X; Guo, Y; Karten, J; Pandya, D; Tilly, T; et al. Zhu, N; Swietlik, EM; Welch, CL; Pauciulo, MW; Hagen, JJ; Zhou, X; Guo, Y; Karten, J; Pandya, D; Tilly, T; Lutz, KA; Martin, JM; Treacy, CM; Rosenzweig, EB; Krishnan, U; Coleman, AW; Gonzaga-Jauregui, C; Lawrie, A; Trembath, RC; Wilkins, MR; Regeneron Genetics Center; PAH Biobank Enrolling Centers’ Investigators; NIHR BioResource for Translational Research - Rare Diseases; National Cohort Study of Idiopathic and Heritable PAH; Morrell, NW; Shen, Y; Gräf, S; Nichols, WC; Chung, WK (2021) Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH. Genome Med, 13 (1). p. 80. ISSN 1756-994X https://doi.org/10.1186/s13073-021-00891-1 SGUL Authors: Southgate, Laura

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/113408/
https://openaccess.sgul.ac.uk/id/eprint/113408/1/s13073-021-00891-1.pdf
https://openaccess.sgul.ac.uk/id/eprint/113408/9/13073_2021_891_MOESM1_ESM.pptx
https://openaccess.sgul.ac.uk/id/eprint/113408/10/13073_2021_891_MOESM2_ESM.docx

المؤلفون: Zhu, N., Swietlik, E.M., Welch, C.L., Pauciulo, M.W., Hagen, J.J., Zhou, X., Guo, Y., Karten, J., Pandya, D., Tilly, T., Lutz, K.A., Martin, J.M., Treacy, C.M., Rosenzweig, E.B., Krishnan, U., Coleman, A.W., Gonzaga-Juaregui, C., Lawrie, A., Trembath, R.C., Wilkins, M.R., Morrell, N.W., Shen, Y., Gräf, S., Nichols, W.C., Chung, W.K.

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/174584/1/Rare%20variant%20analysis%20of%204241%20pulmonary%20arterial%20hypertension%20cases%20from%20an%20international%20consortium%20implicates%20FBLN2,%20PDGFD.pdf; Zhu, N., Swietlik, E.M., Welch, C.L. et al. (22 more authors) (2021) Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH. Genome Medicine, 13 (1). p. 80. ISSN 1756-994X

الاتاحة: https://eprints.whiterose.ac.uk/174584/
https://eprints.whiterose.ac.uk/174584/1/Rare%20variant%20analysis%20of%204241%20pulmonary%20arterial%20hypertension%20cases%20from%20an%20international%20consortium%20implicates%20FBLN2,%20PDGFD.pdf

المؤلفون: Abittan, B., San Roman, G., Karten, J., Brownridge, S., Goldman, R.

المصدر: Fertility and Sterility ; volume 113, issue 4, page e31-e32 ; ISSN 0015-0282

الاتاحة: http://dx.doi.org/10.1016/j.fertnstert.2020.02.068
https://api.elsevier.com/content/article/PII:S0015028220301606?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0015028220301606?httpAccept=text/plain

المؤلفون: Turro E, Astle WJ, Graf S, Greene D, Allen HL, Frontini M, Stephens J, Downes K, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Caulfield MJ, Chinnery PF, Dixon PH, James R, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Tan RYY, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Abbs S, Abulhoul L, Adlard J, Ahmed M, Alachkar H, Allsup DJ, Almeida-King J, Ancliff P, Antrobus R, Armstrong R, Arno G, Ashford S, Attwood A, Aurora P, Babbs C, Bacchelli C, Bakchoul T, Banka S, Bariana T, Barwell J, Batista J, Baxendale HE, Beales PL, Bentley DR, Bierzynska A, Biss T, Bitner-Glindzicz MAK, Black GC, Bleda M, Blesneac I, Bockenhauer D, Bogaard H, Bourne CJ, Boyce S, Bradley JR, Bragin E, Breen G, Brennan P, Brewer C, Brown M, Browning AC, Browning MJ, Buchan RJ, Buckland MS, Bueser T, Diz CB, Burn J, Burns SO, Burren OS, Burrows N, Campbell C, Carr-White G, Carss K, Casey R, Chambers J, Chan MMY, Cheah C, Cheng F, Chitre M, Christian MT, Church C, Clayton-Smith J, Cleary M, Brod NC, Coghlan G, Colby E, Cole TRP, Collins J, Collins PW, Colombo C, Compton CJ, Condliffe R, Cook S, Cook HT, Cooper N, Corris PA, Furnell A, Cunningham F, Curry NS, Cutler AJ, Daniels MJ, Dattani M, Daugherty LC, Davis J, De Soyza A, Dent T, Deshpande C, Dewhurst EF, Douzgou S, Drazyk AM, Drewe E, Duarte D, Dutt T, Edgar JDM, Edwards K, Egner W, Ekani MN, Elliott P, Erber WN, Erwood M, Estiu MC, Evans DG, Evans G, Everington T, Eyries M, Fassihi H, Favier R, Findhammer J, Fletcher D, Flinter FA, Floto RA, Fowler T, Fox J, Frary AJ, French CE, Freson K, Gale DP, Gall H, Ganesan V, Gattens M, Geoghegan C, Gerighty TSA, Gharavi AG, Ghio S, Ghofrani H-A, Gibbs JSR, Gibson K, Gilmour KC, Girerd B, Gleadall NS, Goddard S, Goldstein DB, Gomez K, Gordins P, Gosal D, Graham J, Grassi L, Greenhalgh L, Greinacher A, Gresele P, Griffiths P, Grigoriadou S, Grocock RJ, Grozeva D, Gurnell M, Hackett S, Hadinnapola C, Hague WM, Hague R, Haimel M, Hall M, Hanson HL, Haque E, Harkness K, Harper AR, Harris CL, Hart D, Hassan A, Hayman G, Henderson A, Herwadkar A, Hoffman J, Holden S, Horvath R, Houlden H, Houweling AC, Howard LS, Hu F, Hudson G, Hughes J, Huissoon AP, Humbert M, Hunter S, Hurles M, Irving M, Izatt L, Johnson SA, Jolles S, Jolley J, Josifova D, Jurkute N, Karten T, Karten J, Kasanicki MA, Kazkaz H, Kazmi R, Kelleher P, Kelly AM, Kelsall W, Kempster C, Kiely DG, Kingston N, Klima R, Koelling N, Kostadima M, Kovacs G, Koziell A, Kreuzhuber R, Kuijpers TW, Kumar A, Kumararatne D, Kurian MA, Lalloo F, Lambert M, Lawrie A, Layton DM, Lench N, Lentaigne C, Lester T, Linger R, Longhurst H, Lorenzo LE, Louka E, Lyons PA, Machado RD, MacKenzie Ross RV, Madan B, Maimaris J, Malka S, Mangles S, Mapeta R, Marchbank KJ, Marks S, Marschall H-U, Marshall A, Martin J, Mathias M, Matthews E, Maxwell H, McAlinden P, McCarthy MI, McKinney H, McMahon A, Meacham S, Mead AJ, Castello IM, Megy K, Mehta SG, Michaelides M, Millar C, Mohammed SN, Moledina S, Montani D, Moore AT, Mozere M, Muir KW, Nemeth AH, Newman WG, Newnham M, Noorani S, Nurden P, O'Sullivan J, Obaji S, Odhams C, Okoli S, Olschewski A, Olschewski H, Ong KR, Oram SH, Ormondroyd E, Ouwehand WH, Palles C, Papadia S, Park S-M, Parry D, Patel S, Paterson J, Peacock A, Pearce SH, Peden J, Peerlinck K, Pepke-Zaba J, Petersen R, Pilkington C, Poole KES, Prathalingam R, Psaila B, Pyle A, Quinton R, Rahman S, Rao A, Raymond FL, Rayner-Matthews PJ, Rees C, Renton T, Rhodes CJ, Rice ASC, Richter A, Robert L, Rogers A, Rose SJ, Ross-Russell R, Roughley C, Ruddy DM, Sadeghi-Alavijeh O, Samani N, Samarghitean C, Sanchis-Juan A, Sargur RB, Sarkany RN, Satchell S, Savic S, Sayer JA, Sayer G, Scelsi L, Schaefer AM, Schulman S, Scott R, Scully M, Searle C, Seeger W, Sen A, Sewell WAC, Seyres D, Shah N, Shamardina O, Shapiro SE, Shaw AC, Short PJ, Sibson K, Side L, Simeoni I, Simpson MA, Sims MC, Sivapalaratnam S, Smedley D, Smith KR, Snape K, Soranzo N, Soubrier F, Southgate L, Spasic-Boskovic O, Staines S, Staples E, Stark H, Steward C, Stirrups KE, Stuckey A, Suntharalingam J, Swietlik EM, Syrris P, Tait RC, Talks K, Tate K, Taylor JM, Taylor JC, Thaventhiran JE, Themistocleous AC, Thomas E, Thomas D, Thomas MJ, Thomas P, Thomson K, Threadgold G, Thys C, Tilly T, Tischkowitz M, Titterton C, Todd JA, Toh C-H, Tolhuis B, Tomlinson IP, Toshner M, Traylor M, Treacy C, Treadaway P, Trembath R, Turek W, Twiss P, Vale T, Geet CV, Zuydam N, Vandekuilen M, Vandersteen AM, Vazquez-Lopez M, von Ziegenweidt J, Noordegraaf AV, Wagner A, Waisfisz Q, Walker SM, Walker N, Walter K, Ware JS, Watt C, Wedderburn L, Wei W, Welch SB, Wessels J, Westbury SK, Westwood J-P, Wharton J, Whitehorn D, Wilkie AOM, Wilson BT, Wong EKS, Wood N, Wood Y, Woods CG, Woodward ER, Wort SJ, Worth A, Wright M, Yates K, Yong PFK, Young T, Yu P, Yu-Wai-Man P, Zlamalova E, Penkett CJ

المصدر: Nature, 2020

Relation: https://eprints.ncl.ac.uk/267825

الاتاحة: https://eprints.ncl.ac.uk/267825

المؤلفون: Gogineni, E., Wotman, M., Rana, Z.H., Karten, J., Riegel, A.C., Maduro, L.A., Marrero, M., Kamdar, D., Frank, D., Paul, D., Teckie, S., Seetharamu, N., Ghaly, M.

المصدر: International Journal of Radiation Oncology*Biology*Physics ; volume 105, issue 1, page E594 ; ISSN 0360-3016

الاتاحة: http://dx.doi.org/10.1016/j.ijrobp.2019.06.1195
https://api.elsevier.com/content/article/PII:S0360301619320309?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0360301619320309?httpAccept=text/plain

المؤلفون: Gogineni, E., Rana, Z.H., Vempati, P., Karten, J., Sharma, A., Taylor, P.K., Pereira, L., Gabalski, E., Paul, D., Seetharamu, N., Teckie, S., Ghaly, M.

المصدر: International Journal of Radiation Oncology*Biology*Physics ; volume 105, issue 1, page E399-E400 ; ISSN 0360-3016

الاتاحة: http://dx.doi.org/10.1016/j.ijrobp.2019.06.1584
https://api.elsevier.com/content/article/PII:S0360301619324198?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0360301619324198?httpAccept=text/plain

المؤلفون: Benigni, D, Weaver, D, Baumes, J, Karten, J, Kosmoski, M, Phillips, L

المصدر: Planta Medica ; volume 81, issue 11 ; ISSN 0032-0943 1439-0221

الاتاحة: http://dx.doi.org/10.1055/s-0035-1556416
http://www.thieme-connect.de/DOI/DOI?10.1055/s-0035-1556416

المؤلفون: Karten, J H, Fite, K V, Brecha, N

المصدر: Proceedings of the National Academy of Sciences of the United States of America; April 1977, Vol. 74 Issue: 4 p1753-1756, 4p