Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism
ORCID
- Julia Baptista: 0000-0003-0915-5028
Publication Date
2020-01-01
Publication Title
The American Journal of Human Genetics
Volume
106
Issue
2
ISSN
0002-9297
Embargo Period
9999-12-31
First Page
272
Last Page
279
Recommended Citation
Ellard, S., Gunning, A., Strucinska, K., Muñoz, O., Parrish, A., Caswell, R., Stals, K., Durigon, R., Durlacher-Betzer, K., Cunningham, M., Grochowski, C., Baptista, J., Tysoe, C., Baple, E., Lahiri, N., Homfray, T., Scurr, I., Armstrong, C., Dean, J., Fernandez, P., Jones, A., Taylor, R., Misra, V., Yoon, W., Wright, C., Lupski, J., Spinazzola, A., Harel, T., & Holt, I. (2020) 'Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism', The American Journal of Human Genetics, 106(2), pp. 272-279. Available at: 10.1016/j.ajhg.2020.01.007" >https://doi.org/10.1016/j.ajhg.2020.01.007
