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

Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia

van de Kamp, J. M., Bökenkamp, A., Smith, D. E. C., Wamelink, M. M. C., Jansen, E. E. W., Struys, E. A., Waisfisz, Q., Verkleij, M., Hartmann, M. F., Wang, R., Wudy, S. A., Paganini, C., Rossi, A. & Finken, M. J. J., Jan 2023, In: Clinical genetics. 103, 1, p. 45-52 8 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

SLC26A1 is a major determinant of sulfate homeostasis in humans

Pfau, A., López-Cayuqueo, K. I., Scherer, N., Wuttke, M., Wernstedt, A., González Fassrainer, D., Smith, D. E., van de Kamp, J. M., Ziegeler, K., Eckardt, K-U., Luft, F. C., Aronson, P. S., Köttgen, A., Jentsch, T. J. & Knauf, F., 1 Feb 2023, In: Journal of clinical investigation. 133, 3, e16184.

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

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

Deciphering Developmental Disorders Study, 7 Apr 2022, In: American journal of human genetics. 109, 4, p. 750-758 9 p.

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