Maggie MacDonald
Research Coordinator and PA
- MRC Human Genetics Unit
- Institute of Genetics and Cancer
Contact details
Address
- Street
-
Western General Hospital Campus
Crewe Road - City
- Edinburgh
- Post code
- EH4 2XU
Availability
Monday-Thursday
-
CCPG1 Is a Non-canonical Autophagy Cargo Receptor Essential for ER-Phagy and Pancreatic ER Proteostasis
In:
Developmental Cell, vol. 44, pp. P217-232.e11
DOI: https://doi.org/10.1016/j.devcel.2017.11.024
Research output: Contribution to Journal › Article (Published) -
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism
(8 pages)
In:
Nature Genetics, vol. 48, pp. 36-43
DOI: https://doi.org/10.1038/ng.3451
Research output: Contribution to Journal › Article (Published) -
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy
(10 pages)
In:
Nature Genetics, vol. 46, pp. 1283–1292
DOI: https://doi.org/10.1038/ng.3122
Research output: Contribution to Journal › Article (Published) -
Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations
(7 pages)
In:
The American Journal of Medical Genetics - Part A (AJMG), vol. 158A, pp. 2719-25
DOI: https://doi.org/10.1002/ajmg.a.35447
Research output: Contribution to Journal › Article (Published) -
Mutations in the pre-replication complex cause Meier-Gorlin syndrome
(4 pages)
In:
Nature Genetics, vol. 43, pp. 356-359
DOI: https://doi.org/10.1038/ng.775
Research output: Contribution to Journal › Article (Published)