I am primarily interested in improving the diagnostic yield of
genome sequencing of patients who have a rare disease. I do this by
integrating population genetics and transcriptomics.
Deelen, P., van Dam, S., Herkert,
J. C., Karjalainen, J. M., Brugge, H.,
Abbott, K. M., van Diemen, C. C.,
van der Zwaag, P. A., Gerkes, E. H.,
Zonneveld-Huijssoon, E., Boer-Bergsma, J. J.,
Folkertsma, P., Gillett, T., van
der Velde, K. J., Kanninga, R., van den Akker, P.
C., Jan, S. Z., Hoorntje, E. T., Te
Rijdt, W. P., Vos, Y. J., & 7 othersJongbloed, J. D. H., van
Ravenswaaij-Arts, C. M. A., Sinke,
R., Sikkema-Raddatz, B., Kerstjens-Frederikse, W. S., Swertz, M. A. & Franke, L., 28-Jun-2019, In:
Nature Communications.10, 1,
13 p., 2837.
Research output:Contribution to journal ›Article› Academic› peer-review
Pital-Zhernakova, D., Deelen, P.,
Vermaat, M., van Iterson, M., van Galen, M., Arindrarto, W., van 't
Hof, P., Mei, H., van Dijk, F., Westra,
H-J., Bonder, M. J., van Rooij, J., Verkerk,
M., Jhamai, P. M., Moed, M., Kielbasa, S. M., Bot, J., Nooren, I.,
Pool, R., van Dongen, J., & 27 othersHottenga,
J. J., Stehouwer, C. D. A., van der
Kallen, C. J. H., Schalkwijk, C. G., Zhernakova, A., Li,
Y., Tigchelaar, E. F., de
Klein, N., Beekman, M., Deelen,
J., van Heemst, D., van den Berg, L.
H., Hofman, A., Uitterlinden, A.
G., van Greevenbroek, M. M. J., Veldink,
J. H., Boomsma, D. I., van Duijn, C.
M., Wijmenga, C.,
Slagboom, P. E., Swertz, M.
A., Isaacs, A., van Meurs, J. B.
J., Jansen, R., Heijmans, B. T.,
't Hoen, P. A. C. & Franke,
L., Jan-2017, In: Nature Genetics.49, 1,
p. 139-1457
p.
Research output:Contribution to journal ›Letter› Academic› peer-review
Deelen, P., Zhernakova, D. V., de Haan, M.,
van der Sijde, M., Bonder, M.
J., Karjalainen, J., van
der Velde, K. J., Abbott, K. M.,
Fu, J., Wijmenga,
C., Sinke, R. J., Swertz, M. A. & Franke, L., 27-Mar-2015, In:
Genome medicine.7,
1, 13 p., 30.
Research output:Contribution to journal ›Article› Academic› peer-review
de Klein, N., Tsai, E. A., Vochteloo, M.,
Baird, D., Huang, Y., Chen, C. Y., van Dam, S.,
Oelen, R., Deelen, P., Bakker, O.
B., El Garwany, O., Ouyang, Z., Marshall, E. E., Zavodszky,
M. I., van Rheenen, W., Bakker, M. K., Veldink, J., Gaunt, T. R.,
Runz, H., Franke, L., & 1 othersWestra, H. J., Mar-2023, In:
Nature genetics.55, 3,
p. 377-38812 p.
Research output:Contribution to journal ›Article› Academic› peer-review
BBJ, BioMe, BioVU, Canadian Partnership for Tomorrow's Health/OHS,
China Kadoorie Biobank Collaborative Group, Colorado Center for
Personalized Medicine, deCODE Genetics, ESTBB, FinnGen, Generation
Scotland, Genes & Health, LifeLines, Mass General Brigham
Biobank, Michigan Genomics Initiative, QIMR Berghofer Biobank,
Taiwan Biobank, The HUNT Study, UCLA ATLAS Community Health
Initiative, UKBB, Wang, Y., & 22 othersNamba,
S., Lopera, E., Tsuo,
K., Läll, K., Kanai, M.,
Zhou, W., Wu, K. H. H., Favé,
M. J., Bhatta, L., Awadalla, P.,
Brumpton, B., Deelen, P.,
Hveem, K., Lo Faro, V.,
Mägi, R., Murakami, Y., Sanna, S., Smoller, J. W.,
Uzunovic, J., Wolford, B. N.,
Martin, A. R. & Hirbo, J. B.,
11-Jan-2023, In:
Cell Genomics.3,
1, 18 p., 100241.
Research output:Contribution to journal ›Article› Academic› peer-review
Genomics England Research Consortium, Boulogne, F.,
Claus, L. R., Wiersma, H., Oelen, R.,
Schukking, F., de Klein, N., Li, S.,
Westra, H. J., van der Zwaag, B., van Reekum, F.,
Sierks, D., Schönauer, R., Li, Z., Bijlsma, E. K., Bos, W. J.
W., Halbritter, J., Knoers, N. V. A. M., Besse, W.,
Deelen, P., & 2 othersFranke, L. & van Eerde, A.
M., 20-Feb-2023, (E-pub
ahead of print) In: European Journal of
Human Genetics.9
p.
Research output:Contribution to journal ›Article› Academic› peer-review
The Netherlands A. C. M./P. L. N. Registry,
Lifelines Cohort Study, Lopera-Maya, E. A., Li,
S., de Brouwer, R., Nolte, I. M., van Breen, J.,
Jongbloed, J. D. H., Swertz, M. A., Snieder,
H., Franke, L., Wijmenga, C., de Boer,
R. A., Deelen, P., van der Zwaag, P. A. & Sanna, S., 2023,
(Accepted/In press) In: Journal of
cardiovascular translational research.
Research output:Contribution to journal ›Article› Academic› peer-review
Lifelines Corona Research initiative,
Goërtz, Y. M. J., Spruit, M. A.,
Van Herck, M., Dukers-Muijrers, N.,
van der Kallen, C. J. H., Burtin, C.
& Janssen, D. J. A., Dec-2023, In:
Scientific Reports.13, 9 p.,
11713.
Research output:Contribution to journal ›Article› Academic› peer-review
Lifelines Corona Research initiative, Mobach, M. P., Boezen,
H. M., Mierau, J. O., Franke, H.
L., Dekens, J., Deelen, P.,
Lanting, P., Vonk, J. M., Nolte,
I., Ori, A. P. S., Claringbould,
A., Boulogne, F., Dijkema, M. X. L.,
Wiersma, H. H., Warmerdam, R.,
Jankipersadsing, S. A., van Blokland, I.,
de Bock, G. T. H., Rosmalen, J. G. M., & 1 othersWijmenga, C., 5-Jan-2023, In:
PLoS ONE.18, 1, 19
p., e0279902.
Research output:Contribution to journal ›Article› Academic› peer-review
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