Projects per year
Network
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. B. M., Krzyzewska, I. M., Li Yim, A. Y. F., Mannens, M. M. A. M., Alders, M., Bikker, H., Henneman, P., van Koningsbruggen, S., Lekanne Dit Deprez, R. H., Lombardi, P. P. R., Mook, O. R. F., Motazacker, M. M. & Redeker, B. J. W.
1/02/2007 → …
Project: Research
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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
7 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 Access15 Citations (Scopus) -
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
KORA-Study Group & Nantes Referral Center for inherited cardiac arrhythmia, 1 Mar 2022, In: Nature Genetics. 54, 3, p. 232-239 8 p.Research output: Contribution to journal › Article › Academic › peer-review
15 Citations (Scopus) -
Mild Isolated Congenital Central Hypothyroidism Due to a Novel Homozygous Variant in TSHB: A Case Report
Lauffer, P., Bikker, H., Boelen, A., Jöbsis, J. J., van Trotsenburg, A. S. P. & Zwaveling-Soonawala, N., 1 Apr 2022, In: Thyroid. 32, 4, p. 472-474 3 p.Research output: Contribution to journal › Article › Academic › peer-review