Research output per year
Research output per year
Research output
- 6 Article
Search results
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2025
CDK4 Loss of Function Mutations Cause Microcephaly and Short Stature
Verdu Schlie, A., Arismendi, M. I., Leitch, A., Stok, C., leal, A. C., Parry, D. A., Lerário, A. M., Haley, M., Lucheze, B., Carroll, P. L., Musialik, K., Auer, J., Martin, C.-A., Gerasimavicius, L., Quigley, A. J., Correia-Deur, J. E. D. M., Marsh, J. A., Reijns, M. A. M., Lampe, A. K. & Jackson, A. P. & 2 others, , 10 Apr 2025, (E-pub ahead of print) In: Genes & Development.Research output: Contribution to journal › Article › peer-review
Open AccessFile -
2018
CCPG1 Is a Non-canonical Autophagy Cargo Receptor Essential for ER-Phagy and Pancreatic ER Proteostasis
Smith, M. D., Harley, M. E., Kemp, A. J., Wills, J., Lee, M., Arends, M., von Kriegsheim, A., Behrends, C. & Wilkinson, S., 22 Jan 2018, In: Developmental Cell. 44, 2, p. P217-232.e11Research output: Contribution to journal › Article › peer-review
Open AccessFile -
2016
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism
Harley, M. E., Murina, O., Leitch, A., Higgs, M., Bicknell, L. S., Yigit, G., Blackford, A., Zlatanou, A., Mackenzie, K. J., Reddy, K., Halachev, M., McGlasson, S., Reijns, M. A. M., Fluteau, A., Martin, C.-A., Sabbioneda, S., Elcioglu, N. H., Altmuller, J., Thiele, H. & Greenhalgh, L. & 10 others, , Jan 2016, In: Nature Genetics. 48, 1, p. 36-43 8 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile -
2014
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy
Martin, C.-A., Ahmad, I., Klingseisen, A., Hussain, M. S., Bicknell, L. S., Leitch, A., Nürnberg, G., Toliat, M. R., Murray, J. E., Hunt, D., Khan, F., Ali, Z., Tinschert, S., Ding, J., Keith, C., Harley, M. E., Heyn, P., Müller, R., Hoffmann, I. & Daire, V. C. & 18 others, , Dec 2014, In: Nature Genetics. 46, 12, p. 1283–1292 10 p.Research output: Contribution to journal › Article › peer-review
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2012
Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations
Bober, M. B., Niiler, T., Duker, A. L., Murray, J. E., Ketterer, T., Harley, M. E., Alvi, S., Flora, C., Rustad, C., Bongers, E. M. H. F., Bicknell, L. S., Wise, C. & Jackson, A. P., Nov 2012, In: The American Journal of Medical Genetics - Part A (AJMG). 158A, 11, p. 2719-25 7 p.Research output: Contribution to journal › Article › peer-review
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2011
Mutations in the pre-replication complex cause Meier-Gorlin syndrome
Bicknell, L. S., Bongers, E. M. H. F., Leitch, A., Brown, S., Schoots, J., Harley, M. E., Aftimos, S., Al-Aama, J. Y., Bober, M., Brown, P. A. J., van Bokhoven, H., Dean, J., Edrees, A. Y., Feingold, M., Fryer, A., Hoefsloot, L. H., Kau, N., Knoers, N. V. A. M., Mackenzie, J. & Opitz, J. M. & 7 others, , Apr 2011, In: Nature Genetics. 43, 4, p. 356-359 4 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile