Cancer Center Amsterdam
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The effect of specific SORL1 variants on Alzheimer’s Disease risk supports the existence of highly penetrant SORL1 variants
Holstege, H., de Waal, M. W. J., Tesi, N., van der Lee, S. J., Vogel, M., van Spaendonk, R. M. L., Hulsman, M. & ADES‐consortium, ADSP consortium, StEP‐AD consortium, Knight‐ADRC, UCSF/NYGC/UAB, 1 Dec 2024, In: Alzheimer s & dementia. 20, p. e084836Research output: Contribution to journal › Article › Academic › peer-review
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Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
Parsons, M. T., de la Hoya, M., Richardson, M. E., Tudini, E., Anderson, M., Berkofsky-Fessler, W., Caputo, S. M., Chan, R. C., Cline, M. S., Feng, B.-J., Fortuno, C., Gomez-Garcia, E., Hadler, J., Hiraki, S., Holdren, M., Houdayer, C., Hruska, K., James, P., Karam, R. & Leong, H. S. & 23 others, , 5 Sept 2024, In: American journal of human genetics. 111, 9, p. 2044-2058 15 p.Research output: Contribution to journal › Article › Academic › peer-review
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