Projects per year
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Projects
- 1 Active
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Mannens M.M.A.M.: Clinical Molecular Genetics with emphasis on cardiogenetics and growth malformations
Ensink, J., Krzyzewska, I., Li Yim, A., Mannens, M., Alders, M., Bikker, H., Henneman, P., van Koningsbruggen, S., Lekanne Dit Deprez, R., Lombardi, P., Mook, O., Motazacker, M. & Redeker, B.
1/02/2007 → …
Project: Research
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Further Delineation of Central Congenital Hypothyroidism due to Variants in TBL1X and IRS4
Lauffer, P., Naafs, J. C., Bikker, H., Garrelfs, M. R., Mooij, C. F., Boelen, A., Zwaveling-Soonawala, N. & van Trotsenburg, A. S. P., 1 Jul 2023, In: Thyroid. 33, 7, p. 880-884 5 p.Research output: Contribution to journal › Article › Academic › peer-review
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Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance
Copier, J. S., Bootsma, M., Ng, C. A., Wilde, A. A. M., Bertels, R. A., Bikker, H., Christiaans, I., van der Crabben, S. N., Hol, J. A., Koopmann, T. T., Knijnenburg, J., Lommerse, A. A. J., van der Smagt, J. J., Bezzina, C. R., Vandenberg, J. I., Verkerk, A. O., Barge-Schaapveld, D. Q. C. M. & Lodder, E. M., 1 Apr 2023, In: Human Molecular Genetics. 32, 7, p. 1072-1082 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access1 Citation (Scopus) -
A phenotype-enhanced variant classification framework to decrease the burden of missense variants of uncertain significance in type 1 long QT syndrome
Bains, S., Dotzler, S. M., Krijger, C., Giudicessi, J. R., Ye, D., Bikker, H., Rohatgi, R. K., Tester, D. J., Bos, J. M., Wilde, A. A. M. & Ackerman, M. J., Mar 2022, In: Heart Rhythm. 19, 3, p. 435-442 8 p.Research output: Contribution to journal › Article › Academic › peer-review
11 Citations (Scopus) -
Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility (Nature Genetics, (2022), 54, 3, (232-239), 10.1038/s41588-021-01007-6)
KORA-Study Group & Nantes Referral Center for inherited cardiac arrhythmia, 1 May 2022, In: Nature Genetics. 54, 5, p. 735 1 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic
Open Access -
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death
Walsh, R., Adler, A., Amin, A. S., Abiusi, E., Care, M., Bikker, H., Amenta, S., Feilotter, H., Nannenberg, E. A., Mazzarotto, F., Trevisan, V., Garcia, J., Hershberger, R. E., Perez, M. V., Sturm, A. C., Ware, J. S., Zareba, W., Novelli, V., Wilde, A. A. M. & Gollob, M. H., 14 Apr 2022, In: European Heart journal. 43, 15, p. 1500-1510 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access48 Citations (Scopus)