Gijs van Haaften

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome

Efthymiou, S., Scala, M., Nagaraj, V., Ochenkowska, K., Komdeur, F. L., Liang, R. A., Abdel-Hamid, M. S., Sultan, T., Barøy, T., Van Ghelue, M., Vona, B., Maroofian, R., Zafar, F., Alkuraya, F. S., Zaki, M. S., Severino, M., Duru, K. C., Tryon, R. C., Brauteset, L. V., Ansari, M., & 9 othersHamilton, M., van Haelst, M. M., van Haaften, G., Zara, F., Houlden, H., Samarut, É., Nichols, C. G., Smeland, M. F. & McClenaghan, C., 1 May 2024, In: Brain. 147, 5, p. 1822-1836 15 p.

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

Lymphedema as first clinical presentation of Cantu Syndrome: reversed phenotyping after identification of gain-of-function variant in ABCC9

Gao, J., McClenaghan, C., Christiaans, I., Alders, M., van Duinen, K., van Haelst, M. M., van Haaften, G. & Nichols, C. G., Feb 2023, In: European journal of human genetics. 31, 2, p. 188-194 7 p.

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