Alpha galactosidase A activity in Parkinson's disease von Alcalay, R.N., Wolf, P., Levy, O.A., Kang, U.J., Waters, C., Fahn, S., Ford, B., Kuo, S.H., Vanegas, N., Shah, H., Liong, C., Narayan, S., Pauciulo, M.W., Nichols, W.C., Gan-Or, Z., Rouleau, G.A., Chung, W.K., Oliva, P., Keutzer, J., Marder, K., Zhang, X.K.

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Heterozygous germline mutations in BMPR2 , encoding a TGF-β receptor, cause familial primary pulmonary hypertension von Lane, Kirk B, Machado, Rajiv D, Pauciulo, Michael W, Thomson, Jennifer R, Phillips, John A, Loyd, James E, Nichols, William C, Trembath, Richard C

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Mendelian randomisation and experimental medicine approaches to IL-6 as a drug target in PAH von Toshner, M, Church, C, Harbaum, L, Rhodes, C, Villar Moreschi, SS, Liley, J, Jones, R, Arora, A, Batai, K, Desai, AA, Coghlan, JG, Gibbs, JSR, Gor, D, Gräf, S, Harlow, L, Hernandez-Sanchez, J, Howard, LS, Humbert, M, Karnes, J, Kiely, DG, Kittles, R, Knightbridge, E, Lam, B, Lutz, KA, Nichols, WC, Pauciulo, MW, Pepke-Zaba, J, Suntharalingam, J, Soubrier, F, Trembath, RC, Schwantes-An, T-HL, Wort, SJ, Wilkins, M, Gaine, S, Morrell, NW, Corris, PA

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Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-β family von Thomson, Jennifer R, Machado, Rajiv D, Pauciulo, Michael W, Morgan, Neil V, Humbert, Marc, Elliott, Greg C, Ward, Ken, Yacoub, Magdi, Mikhail, Ghada, Rogers, Paula, Newman, John, Wheeler, Lisa, Higenbottam, Timothy, Gibbs, J Simon R, Egan, Jim, Crozier, Agnes, Peacock, Andrew, Allcock, Robert, Corris, Paul, Loyd, James E, Trembath, Richard C, Nichols, William C

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A mutation in myotilin causes spheroid body myopathy von FOROUD, T, PANKRATZ, N, FARLOW, M, NICHOLS, W. C, BATCHMAN, A. P, PAUCIULO, M. W, VIDAL, R, MIRAVALLE, L, GOEBEL, H. H, CUSHMAN, L. J, AZZARELLI, B, HORAK, H

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Correction to: Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH von 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, Morrell, NW, Shen, Y, Graf, S, Nichols, WC, Chung, WK

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Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH von 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-Juaregui, C, Lawrie, A, Trembath, RC, Wilkins, MR, Morrell, NW, Shen, Y, Graf, S, Nichols, WC, Chung, WK

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Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension von Koehler, R, Grünig, E, Pauciulo, M W, Hoeper, M M, Olschewski, H, Wilkens, H, Halank, M, Winkler, J, Ewert, R, Bremer, H, Kreuscher, S, Janssen, B, Nichols, W C

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Bayesian inference associates rare KDR variants with specific phenotypes in pulmonary arterial hypertension von Swietlik, EM, Greene, D, Zhu, N, Megy, K, Cogliano, M, Rajaram, S, Pandya, D, Tilly, T, Lutz, KA, Welch, CCL, Pauciulo, MW, Southgate, L, Martin, JM, Treacy, CM, Penkett, CJ, Stephens, JC, Bogaard, HJ, Church, C, Coghlan, G, Coleman, AW, Condliffe, R, Eichstaedt, CA, Eyries, M, Gall, H, Ghio, S, Girerd, B, Grünig, E, Holden, S, Howard, L, Humbert, M, Kiely, DG, Kovacs, G, Lordan, J, Machado, RD, Mackenzie Ross, RV, McCabe, C, Moledina, S, Montani, D, Olschewski, H, Pepke-Zaba, J, Price, L, Rhodes, CJ, Seeger, W, Soubrier, F, Suntharalingam, J, Toshner, MR, Vonk Noordegraaf, A, Wharton, J, Wild, JM, Wort, SJ, Lawrie, A, Wilkins, MR, Trembath, RC, Shen, Y, Chung, WK, Swift, AJ, Nichols, WC, Morrell, NW, Gräf, S

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Linkage stratification and mutation analysis at the parkin locus identifies mutation positive Parkinson's disease families von Nichols, W C, Pankratz, N, Uniacke, S K, Pauciulo, M W, Halter, C, Rudolph, A, Conneally, P M, Foroud, T

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A Physical and Transcript Map Based upon Refinement of the Critical Interval for PPH1, a Gene for Familial Primary Pulmonary Hypertension von Machado, Rajiv D., Pauciulo, Michael W., Fretwell, Neale, Veal, Colin, Thomson, Jennifer R., Vilariño Güell, Carles, Aldred, Micheala, Brannon, Christopher A., Trembath, Richard C., Nichols, William C.

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Bayesian inference associates rare KDR variants with specific phenotypes in pulmonary arterial hypertension von Swietlik, EM, Greene, D, Zhu, N, Megy, K, Cogliano, M, Rajaram, S, Pandya, D, Tilly, T, Lutz, KA, Welch, CCL, Pauciulo, MW, Southgate, L, Martin, JM, Treacy, CM, Penkett, CJ, Stephens, JC, Bogaard, HJ, Church, C, Coghlan, G, Coleman, AW, Condliffe, R, Eichstaedt, CA, Eyries, M, Gall, H, Ghio, S, Girerd, B, Grünig, E, Holden, S, Howard, L, Humbert, M, Kiely, DG, Kovacs, G, Lordan, J, Machado, RD, Mackenzie Ross, RV, McCabe, C, Moledina, S, Montani, D, Olschewski, H, Pepke-Zaba, J, Price, L, Rhodes, CJ, Seeger, W, Soubrier, F, Suntharalingam, J, Toshner, MR, Vonk Noordegraaf, A, Wharton, J, Wild, JM, Wort, SJ, Lawrie, A, Wilkins, MR, Trembath, RC, Shen, Y, Chung, WK, Swift, AJ, Nichols, WC, Morrell, NW, Gräf, S

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Genetic Determinants of Risk and Survival in Pulmonary Arterial Hypertension von Rhodes, CJ, Batai, K, Bleda, M, Haimel, M, Southgate, L, Germain, M, Pauciulo, MW, Hadinnapola, C, Girerd, B, Arora, A, Knight, J, Hanscombe, K, Karnes, J, Kaakinen, M, Gall, HH, Ulrich, A, Harbaum, L, Aman, J, Cebola, I, Ferrer, J, Martin, L, He, H, Frost, AE, White, R, Lutz, K, Walsworth, A, Wharton, J, Lawrie, A, Humbert, M, Soubrier, F, Tregouet, D, Prokopenko, I, Kittles, R, Graef, S, Nichols, WC, Trembath, R, Desai, AA, Morrell, N, Wilkins, M

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