Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA

Genomics England Res Consortium, Viering, D., Schlingmann, K. P., Hureaux, M., Nijenhuis, T., Mallett, A., Chan, M. M. Y., van Beek, A., van Eerde, A. M., Coulibaly, J-M., Vallet, M., Decramer, S., Pelletier, S., Klaus, G., Komhoff, M., Beetz, R., Patel, C., Shenoy, M., Steenbergen, E. J., Anderson, G. & 11 others, Bongers, E. M. H. F., Bergmann, C., Panneman, D., Rodenburg, R. J., Kleta, R., Houillier, P., Konrad, M., Vargas-Poussou, R., Knoers, N. V. A. M., Bockenhauer, D. & de Baaij, J. H. F., Feb-2022, In: Journal of the American Society of Nephrology. 33, 2, p. 305-325 44 p.

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

Behavioral and cognitive functioning in individuals with Cantu syndrome

Roessler, H. I., van Der Heuvel, L. M., Shields, K., Guilliams, K. P., Knoers, N. V. A. M., van Haaften, G., Grange, D. K. & van Haelst, M. M., Aug-2021, In: American Journal of Medical Genetics. Part A. 185, 8, p. 2434-2444 11 p.

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

Clinical Integration of Genome Diagnostics for Congenital Anomalies of the Kidney and Urinary Tract

Westland, R., Renkema, K. Y. & Knoers, N. V. A. M., 7-Jan-2021, In: Clinical Journal of the American Society of Nephrology. 16, 1, p. 128-137 10 p.

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

Clinical versus research genomics in kidney disease

Mallett, A. J., Knoers, N., Sayer, J. & Stark, Z., Sep-2021, In: Nature Reviews Nephrology. 17, 9, p. 570-571 2 p.

Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

Drug Repurposing for Rare Diseases

Roessler, H., Knoers, N. V. A. M., van Haelst, M. M. & van Haaften, G., Apr-2021, In: Trends in Pharmacological Sciences. 42, 4, p. 255-267 13 p.

Research output: Contribution to journal › Review article › Academic › peer-review