PI
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A Germline Heterozygous Dominant Negative IKZF2 Variant Causing Syndromic Primary Immune Regulatory Disorder and ICHAD
Lu, H. Y., Vaseghi-Shanjani, M., Lam, A. J., Sharma, M., Mohajeri, A., Silva, L. B. R., Gillies, J., Yang, G. X., Lin, S., Fu, M. P., Salman, A., Rahmanian, R., Armstrong, L., Halparin, J., Yang, C. L., Chilvers, M., Henkelman, E., Rehmus, W., Morrison, D. & Setiadi, A. & 7 others, , 1 Dec 2025, In: Journal of clinical immunology. 45, 1, 89.Research output: Contribution to journal › Article › Academic › peer-review
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Patient reported outcomes used in clinical trials and core outcome sets for individuals with genetic intellectual disability: a scoping review
van Silfhout, N. Y., van Muilekom, M. M., van Karnebeek, C. D., Daams, J. G., Haverman, L. & van Eeghen, A. M., 1 Dec 2025, In: JOURNAL OF NEURODEVELOPMENTAL DISORDERS. 17, 1, 43.Research output: Contribution to journal › Review article › Academic › peer-review
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ASXL1 deficiency causes epigenetic dysfunction, combined immunodeficiency, and EBV-associated lymphoma
Fu, M. P., Sharma, M., Yousefi, P., Merrill, S. M., Tan, R., Samra, S., Setiadi, A., Golding, L., Modi, B. P., del Bel, K. L., Deyell, R. J., Rozmus, J., Rehmus, W., Hildebrand, K. J., James, E., Blanchard-Rohner, G. R., Lin, S., Shopsowitz, K. E., Terry, J. & Lee, A. F. & 19 others, , 6 Oct 2025, In: Journal of Experimental Medicine. 222, 10Research output: Contribution to journal › Article › Academic › peer-review
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