Exome sequencing in patient-parent trios suggests new candidate genes for early-onset primary sclerosing cholangitis

Haisma, S-M., Weersma, R. K., Joosse, M. E., de Koning, B. A., de Meij, T., Koot, B. G., Wolters, V., Norbruis, O., Daly, M. J., Stevens, C., Xavier, R. J., Koskela, J., Rivas, M. A., Visschedijk, M. C., Verkade, H. J., Barbieri, R., Jansen, D. B., Festen, E. A., van Rheenen, P. F. & van Diemen, C. C., 11-Mar-2021, In: Liver International. 14 p.

Research output: Contribution to journal › Article › Academic › peer-review

A cross-omics integrative study of metabolic signatures of chronic obstructive pulmonary disease

Prokić, I., Lahousse, L., de Vries, M., Liu, J., Kalaoja, M., Vonk, J. M., van der Plaat, D. A., van Diemen, C. C., van der Spek, A., Zhernakova, A., Fu, J., Ghanbari, M., Ala-Korpela, M., Kettunen, J., Havulinna, A. S., Perola, M., Salomaa, V., Lind, L., Ärnlöv, J., Stricker, B. H. C. & 4 others, Brusselle, G. G., Boezen, H. M., van Duijn, C. M. & Amin, N., 16-Jul-2020, In: BMC Pulmonary Medicine. 20, 1, 10 p., 193.

Research output: Contribution to journal › Article › Academic › peer-review

A homozygous variant in growth and differentiation factor 2(GDF2)may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis

Aukema, S. M., ten Brinke, G. A., Timens, W., Vos, Y. J., Accord, R. E., Kraft, K. E., Santing, M. J., Morssink, L. P., Streefland, E., van Diemen, C. C., Vrijlandt, E. J. L. E., Hulzebos, C. & Kerstjens-Frederikse, W. S., 2-Jul-2020, In: American Journal of Medical Genetics. Part A. 182, 9, p. 2152-2160 9 p.

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A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound

Corsten-Janssen, N., Bouman, K., Diphoorn, J. C. D., Scheper, A. J., Kinds, R., El Mecky, J., Breet, H., Verheij, J. B. G. M., Suijkerbuijk, R., Duin, L. K., Manten, G. T. R., van Langen, I. M., Sijmons, R. H., Sikkema-Raddatz, B., Westers, H. & van Diemen, C. C., Sep-2020, In: Prenatal Diagnosis. 40, 10, p. 1300-1309 24 p.

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CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations

Li, S., van der Velde, K. J., de Ridder, D., van Dijk, A. D. J., Soudis, D., Zwerwer, L. R., Deelen, P., Hendriksen, D., Charbon, B., van Gijn, M. E., Abbott, K., Sikkema-Raddatz, B., van Diemen, C. C., Kerstjens-Frederikse, W. S., Sinke, R. J. & Swertz, M. A., 24-Aug-2020, In: Genome medicine. 12, 1, p. 75 11 p., 75.

Research output: Contribution to journal › Article › Academic › peer-review