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Research Output

No evidence for increased prevalence of colorectal carcinoma in 399 Dutch patients with Birt-Hogg-Dubé syndrome

van de Beek, I., Glykofridis, I. E., Wolthuis, R. M. F., Gille, H. J. J. P., Johannesma, P. C., Meijers-Heijboer, H. E. J., van Moorselaar, J. R. A. & Houweling, A. C., Feb 2020, In : British Journal of Cancer. 122, 4, p. 590-594 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant

Overwater, E., Efrat, R., Barge-Schaapveld, D. Q. C. M., Lakeman, P., Weiss, M. M., Maugeri, A., van Tintelen, J. P. & Houweling, A. C., Feb 2019, In : Molecular Genetics and Genomic Medicine. 7, 2, e00518.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension

Hodgson, J., Swietlik, E. M., Salmon, R. M., Hadinnapola, C., Nikolic, I., Wharton, J., Guo, J., Liley, J., Haimel, M., Bleda, M., Southgate, L., Machado, R. D., Martin, J. M., Treacy, C. M., Yates, K., Daugherty, L. C., Shamardina, O., Whitehorn, D., Holden, S., Bogaard, H. J. & 41 others, Church, C., Coghlan, G., Condliffe, R., Corris, P. A., Danesino, C., Eyries, M., Gall, H., Ghio, S., Ghofrani, H-A., Gibbs, J. S. R., Girerd, B., Houweling, A. C., Howard, L., Humbert, M., Kiely, D. G., Kovacs, G., Lawrie, A., MacKenzie Ross, R. V., Moledina, S., Montani, D., Olschewski, A., Olschewski, H., Ouwehand, W. H., Peacock, A. J., Pepke-Zaba, J., Prokopenko, I., Rhodes, C. J., Scelsi, L., Seeger, W., Soubrier, F., Suntharalingam, J., Toshner, M. R., Trembath, R. C., Vonk Noordegraaf, A., Wort, S. J., Wilkins, M. R., Yu, P. B., Li, W., Gräf, S., Upton, P. D. & Morrell, N. W., 29 Oct 2019, In : American Journal of Respiratory and Critical Care Medicine.

Research output: Contribution to journalArticleAcademicpeer-review

Fatal neonatal hypertrophic cardiomyopathy caused by compound heterozygous truncating MYBPC3 mutation

Alsters, S., Wong, L., Peferoen, L., Niessen, H. W. M., Bikker, H., Elting, M. W. & Houweling, A. C., 1 May 2019, In : Netherlands Heart Journal. 27, 5, p. 282-283 2 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

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

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. & 101 others, 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, 1 Mar 2019, In : Lancet respiratory medicine. 7, 3, p. 227-238 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Prizes

CVON DOLPHIN-GENESIS: Detection of Latent Pulmonary Hypertension In Genetically Susceptible Individuals

Harm Jan Bogaard (Recipient), Peter van Tintelen (Recipient), Imke Christiaans (Recipient), Marie-José T. H. Goumans (Recipient), Frances de Man (Recipient), Arjan Houweling (Recipient) & Anton Vonk Noordegraaf (Recipient), 2017

Prize: Honorary award