Wade, E., & Oliver, R. (2023, November). Teacher development. Workshop presentation at the Genetics Otago (GO) Annual Symposium & Workshops, Dunedin, New Zealand.
Conference Contribution - Verbal presentation and other Conference outputs
Wade, E. M., Goodin, E. A., Wang, Y., Morgan, T., Callon, K. E., Watson, M., Daniel, P. B., … Robertson, S. P. (2023). FLNA-filaminopathy skeletal phenotypes are not due to an osteoblast autonomous loss-of-function. Bone Reports, 18, 101668. doi: 10.1016/j.bonr.2023.101668
Journal - Research Article
Wade, E. M., Parthasarathy, P., Mi, J., Morgan, T., Wollnik, B., Robertson, S. P., & Cundy, T. (2022). Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia [Brief communication]. European Journal of Human Genetics, 30, 480-484. doi: 10.1038/s41431-021-00902-0
Journal - Research Other
Wade, E. M., Jenkins, Z. A., Morgan, T., Gimenez, G., Gibson, H., Peng, H., … Robertson, S. P. (2021). Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia. American Journal of Medical Genetics Part A, 185A, 3675-3682. doi: 10.1002/ajmg.a.62424
Journal - Research Article
Fukushima, K., Parthasarathy, P., Wade, E. M., Morgan, T., Gowrishankar, K., Markie, D. M., & Robertson, S. P. (2021). Intragenic deletions in FLNB are part of the mutational spectrum causing spondylocarpotarsal synostosis syndrome. Genes, 12(4), 528. doi: 10.3390/genes12040528
Journal - Research Other
2023
Journal - Research Article
Wade, E. M., Goodin, E. A., Wang, Y., Morgan, T., Callon, K. E., Watson, M., Daniel, P. B., … Robertson, S. P. (2023). FLNA-filaminopathy skeletal phenotypes are not due to an osteoblast autonomous loss-of-function. Bone Reports, 18, 101668. doi: 10.1016/j.bonr.2023.101668
Conference Contribution - Verbal presentation and other Conference outputs
Wade, E., & Oliver, R. (2023, November). Teacher development. Workshop presentation at the Genetics Otago (GO) Annual Symposium & Workshops, Dunedin, New Zealand.
2022
Journal - Research Other
Wade, E. M., Parthasarathy, P., Mi, J., Morgan, T., Wollnik, B., Robertson, S. P., & Cundy, T. (2022). Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia [Brief communication]. European Journal of Human Genetics, 30, 480-484. doi: 10.1038/s41431-021-00902-0
2021
Journal - Research Article
Wade, E. M., Jenkins, Z. A., Morgan, T., Gimenez, G., Gibson, H., Peng, H., … Robertson, S. P. (2021). Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia. American Journal of Medical Genetics Part A, 185A, 3675-3682. doi: 10.1002/ajmg.a.62424
Blakes, A. J. M., Gaul, E., Lam, W., Shannon, N., Knapp, K. M., Bicknell, L. S., Jackson, M. R., Wade, E. M., Robertson, S., … Douglas, A. G. L. (2021). Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity. European Journal of Human Genetics, 29, 593-603. doi: 10.1038/s41431-020-00766-w
Journal - Research Other
Fukushima, K., Parthasarathy, P., Wade, E. M., Morgan, T., Gowrishankar, K., Markie, D. M., & Robertson, S. P. (2021). Intragenic deletions in FLNB are part of the mutational spectrum causing spondylocarpotarsal synostosis syndrome. Genes, 12(4), 528. doi: 10.3390/genes12040528
2020
Journal - Research Article
Daniel, S., Renwick, M., Chau, V. Q., Datta, S., Maddineni, P., Zode, G., Wade, E. M., Robertson, S. P., … Hulleman, J. D. (2020). Fibulin-3 knockout mice demonstrate corneal dysfunction but maintain normal retinal integrity. Journal of Molecular Medicine, 98, 1639-1656. doi: 10.1007/s00109-020-01974-z
Micale, L., Morlino, S., Biagini, T., Carbone, A., Fusco, C., Ritelli, M., … Wade, E. M., … Castori, M. (2020). Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy. Biochimica et Biophysica Acta: Molecular Basis of Disease, 1866, 165742. doi: 10.1016/j.bbadis.2020.165742
Journal - Research Other
Mi, J., Parthasarathy, P., Halliday, B. J., Morgan, T., Dean, J., Nowaczyk, M. J. M., Markie, D., Robertson, S. P., & Wade, E. M. (2020). Deletion of exon 1 in AMER1 in osteopathia striata with cranial sclerosis. Genes, 11, 1439. doi: 10.3390/genes11121439
Wade, E. M., Halliday, B. J., Jenkins, Z. A., O'Neill, A. C., & Robertson, S. P. (2020). The X-linked filaminopathies: Synergistic insights from clinical and molecular analysis. Human Mutation, 41, 865-883. doi: 10.1002/humu.24002
Driver, S. G. W., Jackson, M. R., Richter, K., Tomlinson, P., Brockway, B., Halliday, B. J., Markie, D. M., Robertson, S. P., & Wade, E. M. (2020). Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype. European Journal of Human Genetics, 28, 445-452. doi: 10.1038/s41431-019-0546-7
2019
Journal - Research Article
Morlino, S., Carbone, A., Ritelli, M., Fusco, C., Giambra, V., Nardella, G., … Wade, E. M., … Micale, L. (2019). TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis. Human Mutation, 40, 1886-1898. doi: 10.1002/humu.23834
2017
Journal - Research Article
Wade, E. M., Jenkins, Z. A., Daniel, P. B., Morgan, T., Addor, M. C., Adés, L. C., … Robertson, S. P. (2017). Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype. American Journal of Medical Genetics Part A, 173(7), 1739-1749. doi: 10.1002/ajmg.a.38267
Conference Contribution - Published proceedings: Abstract
Wade, E. M., Jenkins, Z. A., Daniel, P. B., McInerney-Leo, A., Leo, P. J., Morgan, T., … Markie, D. M., & Robertson, S. P. (2017). Mutations in MAP3K7 and TAB2 cause a distinct autosomal dominant form of frontometaphyseal dysplasia through a gain-of-function mechanism. Proceedings of the Joint Meeting of the Australian & New Zealand Bone & Mineral Society (ANZBMS) and the International Federation of Musculoskeletal Research Societies IFMRS). 2. Retrieved from http://www.anzbms-ifmrs.org/
Conference Contribution - Verbal presentation and other Conference outputs
Wade, E. (2017, September). Mutation discovery in frontometaphyseal dysplasia reveals novel signalling mechanisms in bone. Verbal presentation at the Queenstown Molecular Biology (QMB) Meetings, Queenstown, New Zealand.
2016
Journal - Research Article
Wade, E. M., Daniel, P. B., Jenkins, Z. A., McInerney-Leo, A., Leo, P., Morgan, T., … Markie, D. M., & Robertson, S. P. (2016). Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia. American Journal of Human Genetics, 99(2), 392-406. doi: 10.1016/j.ajhg.2016.05.024
Conference Contribution - Published proceedings: Abstract
Wade, E. M., Daniel, P. B., Jenkins, Z. A., McInerney-Leo, A., Leo, P., Morgan, T., … Markie, D. M., & Robertson, S. P. (2016). Mutations in MAP3K7 and TAB2 that alter the activity of the TAK1 signalling complex cause frontometaphyseal dysplasia. European Journal of Human Genetics, 24(E-Suppl. 1), (pp. 33). [Abstract]
Conference Contribution - Verbal presentation and other Conference outputs
Wade, E. (2016, November). Sensing force in your bones. Verbal presentation at the Women's and Children's Health Research Symposium, Dunedin, New Zealand.
Other Research Output
Wade, E. (2016, May). Signals from bones. Solving the cause of a rare skeletal dysplasia. Department of Women’s and Children’s Health, University of Otago, Dunedin, New Zealand. [Department Seminar].
Awarded Doctoral Degree
Wade, E. M. (2016). Mechanosensing in bone (PhD). University of Otago, Dunedin, New Zealand. Retrieved from http://hdl.handle.net/10523/7015
2015
Journal - Research Article
Basart, H., van de Kar, A., Adès, L., Cho, T.-J., Carter, E., Maas, S. M., … Wade, E. M., Robertson, S. P., & Hennekam, R. C. (2015). Frontometaphyseal dysplasia and keloid formation without FLNA mutations. American Journal of Medical Genetics Part A, 167A, 1215-1222. doi: 10.1002/ajmg.a.37044
2013
Journal - Research Article
Meyers, J. R., Planamento, J., Ebrom, P., Krulewitz, N., Wade, E., & Pownall, M. E. (2013). Sulf1 modulates BMP signaling and is required for somite morphogenesis and development of the horizontal myoseptum. Developmental Biology, 378(2), 107-121. doi: 10.1016/j.ydbio.2013.04.002
2011
Journal - Research Article
Porter, L. F., Urquhart, J. E., O'Donoghue, E., Spencer, A. F., Wade, E. M., Manson, F. D. C., & Black, G. C. M. (2011). Identification of a novel locus for autosomal dominant primary open angle glaucoma on 4q35.1-q35.2. Investigative Ophthalmology & Visual Science, 52(11), 7859-7865. doi: 10.1167/iovs.10-6581
