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Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome (Genetics in Medicine, (2020), 22, 5, (867-877), 10.1038/s41436-019-0743-3)

Autor: Cuvertino S., Hartill V., Colyer A., Garner T., Nair N., Al-Gazali L., Canham N., Faundes V., Flinter F., Hertecant J., Holder-Espinasse M., Jackson B., Lynch S. A., Nadat F., Narasimhan V. M., Peckham M., Sellers R., Seri M., Montanari F., Southgate L., Squeo G. M., Trembath R., van Heel D., Venuto S., Weisberg D., Stals K., Ellard S., Barton A., Kimber S. J., Sheridan E., Merla G., Stevens A., Johnson C. A., Banka S.

Correction to: Genetics in Medicine 22:2020 https://doi.org/10.1038/s41436-019-0743-3 published online 17 January 2020. An incorrect reference was cited in the fourth sentence of the Results section. The correct citation should have been Al-Gazali LI

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3730::39a1a4fa0e57cef7ffc2831a4e6708bd
https://hdl.handle.net/11588/913877

Genome-wide association study identifies risk loci for cluster headache

Autor: O'Connor, E., Fourier, C., Ran, C., Sivakumar, P., Liesecke, F., Southgate, L., Harder, A.V.E., Vijfhuizen, L.S., Yip, J., Giffin, N., Silver, N., Ahmed, F., Hostettler, I.C., Davies, B., Cader, M.Z., Simpson, B.S., Sullivan, R., Efthymiou, S., Adebimpe, J., Quinn, O., Campbell, C., Cavalleri, G.L., Vikelis, M., Kelderman, T., Paemeleire, K., Kilbride, E., Grangeon, L., Lagrata, S., Danno, D., Trembath, R., Wood, N.W., Kockum, I., Winsvold, B.S., Steinberg, A., Sjostrand, C., Waldenlind, E., Vandrovcova, J., Houlden, H., Matharu, M., Belin, A.C.

Objective This study was undertaken to identify susceptibility loci for cluster headache and obtain insights into relevant disease pathways. Methods We carried out a genome-wide association study, where 852 UK and 591 Swedish cluster headache cases w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______202::4b6b6d40e2eeb54858b0251f2d47772e
https://hdl.handle.net/1887/3627406

Mendelian randomisation analysis of red cell distribution width in pulmonary arterial hypertension

Autor: Ulrich, A, Wharton, J, Thayer, TE, Swietlik, EM, Assad, TR, Desai, AA, Gräf, S, Harbaum, L, Humbert, M, Morrell, NW, Nichols, WC, Soubrier, F, Southgate, L, Trégouët, D-A, Trembath, RC, Brittain, EL, Wilkins, MR, Prokopenko, I, Rhodes, CJ, NIHR BioResource – Rare Diseases Consortium, UK PAH Cohort Study Consortium, US PAH Biobank Consortium

Pulmonary arterial hypertension (PAH) is a rare disease that leads to premature death from right heart failure. It is strongly associated with elevated red cell distribution width (RDW), a correlate of several iron status biomarkers. High RDW values

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::5d8e24af37d202b069b3d2a7ce4e8632

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

Autor: 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, H-A, 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, 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, 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, D-A, Prokopenko, I, Kittles, R, Gräf, S, Nichols, WC, Trembath, RC, Desai, AA, Morrell, NW, Wilkins, MR, Consortium, UK NIHR Bioresource Rare Diseases, Consortium, UK PAH Cohort Study, Consortium, US PAH Biobank, McCarthy, M

Publikováno v: Lancet Respiratory medicine
Lancet Respiratory medicine, Elsevier, 2019, 7 (3), pp.227-238. ⟨10.1016/S2213-2600(18)30409-0⟩
Lancet respiratory medicine, 7(3), 227-238. Elsevier Limited
The Lancet. Respiratory Medicine
Rhodes, C J, Batai, K, Bleda, M, Haimel, M, Southgate, L, Germain, M, Pauciulo, M W, Hadinnapola, C, Aman, J, Girerd, B, Arora, A, Knight, J, Hanscombe, K B, Karnes, J H, Kaakinen, M, Gall, H, Ulrich, A, Harbaum, L, Cebola, I, Ferrer, J, Lutz, K, Swietlik, E M, Ahmad, F, Amouyel, P, Archer, S L, Argula, R, Austin, E D, Badesch, D, Bakshi, S, Barnett, C, Benza, R, Bhatt, N, Bogaard, H J, Burger, C D, Chakinala, M, Church, C, Coghlan, J G, Condliffe, R, Corris, P A, Danesino, C, Debette, S, Elliott, C G, Elwing, J, Eyries, M, Fortin, T, Franke, A, Frantz, R P, Frost, A, Garcia, J G N, Ghio, S, Ghofrani, H A, Gibbs, J S R, Harley, J, He, H, Hill, N S, Hirsch, R, Houweling, A C, Howard, L S, Ivy, D, Kiely, D G, Klinger, J, Kovacs, G, Lahm, T, Laudes, M, Machado, R D, MacKenzie Ross, R V, Marsolo, K, Martin, L J, Moledina, S, Montani, D, Nathan, S D, Newnham, M, Olschewski, A, Olschewski, H, Oudiz, R J, Ouwehand, W H, Peacock, A J, Pepke-Zaba, J, Rehman, Z, Robbins, I, Roden, D M, Rosenzweig, E B, Saydain, G, Scelsi, L, Schilz, R, Seeger, W, Shaffer, C M, Simms, R W, Simon, M, Sitbon, O, Suntharalingam, J, Tang, H, Tchourbanov, A Y, Thenappan, T, Torres, F, Toshner, M R, Treacy, C M, Vonk Noordegraaf, A, Waisfisz, Q, Walsworth, A K, Walter, R E, Wharton, J, White, R J, Wilt, J, Wort, S J, Yung, D, Lawrie, A, Humbert, M, Soubrier, F, Trégouët, D A, Prokopenko, I, Kittles, R, Gräf, S, Nichols, W C, Trembath, R C, Desai, A A, Morrell, N W, Wilkins, M R, UK NIHR BioResource Rare Diseases Consortium, UK PAH Cohort Study Consortium & US PAH Biobank Consortium 2019, ' Genetic determinants of risk in pulmonary arterial hypertension : international genome-wide association studies and meta-analysis ', Lancet respiratory medicine, vol. 7, no. 3, pp. 227-238 . https://doi.org/10.1016/S2213-2600(18)30409-0, https://doi.org/10.1016/S2213-2600(18)30409-0

Background Raregenetic variantscause pulmonary arterial hypertension, but the contribution of commongenetic variationto disease risk and natural history is poorly characterised. We tested for genome-wide association for pulmonary arterial hypertensio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ae9607d585d112e007c7f8cea64b0b66
https://hal.sorbonne-universite.fr/hal-02154109/file/1-s2.0-S2213260018304090-main.pdf