Jiddeke van de Kamp

DR.

Medical Specialist, ANS - Complex Trait Genetics Affiliatie VU Medical Specialist, Amsterdam Gastroenterology Endocrinology Metabolism Medical Specialist, Human genetics

Specialization

Focus of research

Latest publications

The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis
Colbert, B. M., Lanting, C., Smeal, M., Blanton, S., Dykxhoorn, D. M., Tang, P-C., Getchell, R. L., Velde, H., Fehrmann, M., Thorpe, R., Chapagain, P., Elkhaligy, H., Kremer, H., Yntema, H., Haer-Wigman, L., Redfield, S., Sun, T., Bruijn, S., Plomp, A., Goderie, T., & 28 othersvan de Kamp, J., Free, R. H., Wassink-Ruiter, J. K., Widdershoven, J., Vanhoutte, E., Rotteveel, L., Kriek, M., van Dooren, M., Hoefsloot, L., de Gier, H. H. W., Schaefer, A., Kolbe, D., Azaiez, H., Rabie, G., Aburayyan, A., Kawas, M., Kanaan, M., Holder, J., Usami, S-I., Chen, Z., Dai, P., Holt, J., Nelson, R., Choi, B. Y., Shearer, E., Smith, R. J. H., Pennings, R. & Liu, X. Z., May 2024, In: Human genetics. 143, 5, p. 721-734 14 p.
Research output: Contribution to journal › Article › Academic › peer-review
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
Bosch, E., Popp, B., Güse, E., Skinner, C., van der Sluijs, P. J., Maystadt, I., Pinto, A. M., Renieri, A., Bruno, L. P., Granata, S., Marcelis, C., Baysal, Ö., Hartwich, D., Holthöfer, L., Isidor, B., Cogne, B., Wieczorek, D., Capra, V., Scala, M., de Marco, P., & 52 othersOgnibene, M., Jamra, R. A., Platzer, K., Carter, L. B., Kuismin, O., van Haeringen, A., Maroofian, R., Valenzuela, I., Cuscó, I., Martinez-Agosto, J. A., Rabani, A. M., Mefford, H. C., Pereira, E. M., Close, C., Anyane-Yeboa, K., Wagner, M., Hannibal, M. C., Zacher, P., Thiffault, I., Beunders, G., Umair, M., Bhola, P. T., McGinnis, E., Millichap, J., van de Kamp, J. M., Prijoles, E. J., Dobson, A., Shillington, A., Graham, B. H., Garcia, E-J., Galindo, M. K., Ropers, F. G., Nibbeling, E. A. R., Hubbard, G., Karimov, C., Goj, G., Bend, R., Rath, J., Morrow, M. M., Millan, F., Salpietro, V., Torella, A., Nigro, V., Kurki, M., Stevenson, R. E., Santen, G. W. E., Zweier, M., Campeau, P. M., Severino, M., Reis, A., Accogli, A. & Vasileiou, G., 1 Nov 2023, In: Genetics in medicine. 25, 11, 100950.
Research output: Contribution to journal › Article › Academic › peer-review
A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy
Rumping, L., Pouwels, P. J. W., Wolf, N. I., Rehmann, H., Wamelink, M. M. C., Waisfisz, Q., Jans, J. J. M., Prinsen, H. C. M. T., van de Kamp, J. M. & van Hasselt, P. M., 1 May 2023, In: JIMD reports. 64, 3, p. 217-222 6 p.
Research output: Contribution to journal › Article › Academic › peer-review
All publications

Jiddeke van de Kamp

Specialization

Focus of research

The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy

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