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Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms
van Walree, E. S., Dombrowsky, G., Jansen, I. E., Mirkov, M. U., Zwart, R., Ilgun, A., Guo, D., Clur, S.-A. B., Amin, A. S., Savage, J. E., van der Wal, A. C., Waisfisz, Q., Maugeri, A., Wilsdon, A., Bu’Lock, F. A., Hurles, M. E., Dittrich, S., Berger, F., Audain Martinez, E. & Christoffels, V. M. & 6 others, , Jan 2021, In: Genetics in medicine. 23, 1, p. 103-110 8 p.Research output: Contribution to journal › Article* › Academic › peer-review
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Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults
ENIGMA Consortium, 1 Dec 2020, In: Nature communications. 11, 1, 4796.Research output: Contribution to journal › Article* › Academic › peer-review
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Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity (Acta Neuropathologica, (2019), 138, 2, (237-250), 10.1007/s00401-019-02026-8): A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity (Acta Neuropathologica, (2019), 138, 2, (237-250), 10.1007/s00401-019-02026-8)
DESGESCO (Dementia Genetics Spanish Consortium), EADB (Alzheimer Disease European DNA biobank), IFGC (International FTD-Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium), RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia), Netherlands Brain Bank (NBB) & The GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group, 1 May 2020, In: Acta neuropathologica. 139, 5, p. 959-962 4 p.Research output: Contribution to journal › Comment/Letter to the editor* › Academic
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