20092018
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Research Output 2009 2018

2018
2 Citations (Scopus)

Pitfalls of immunotherapy: Lessons from a patient with CTLA-4 haploinsufficiency 11 Medical and Health Sciences 1107 Immunology

Watson, L. R., Slade, C. A., Ojaimi, S., Barnes, S., Fedele, P., Smith, P., Marum, J., Lunke, S., Stark, Z., Hunter, M. F., Bryant, V. L. & Low, M. S. Y., 22 Oct 2018, In : Allergy, Asthma and Clinical Immunology. 14, 1, 5 p., 65.

Research output: Contribution to journalArticleOtherpeer-review

Open Access
File
2 Citations (Scopus)

Prenatal diagnosis of fragile X syndrome in a twin pregnancy complicated by a complete retraction

Prawer, Y., Hunter, M., Cronin, S., Ling, L., Vera, S. A., Fahey, M., Gelfand, N., Oertel, R., Bartlett, E., Francis, D. & Godler, D., 7 Jun 2018, In : Genes. 9, 6, 11 p., 287.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
File
2017

Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch

Ibrahim, M., Hunter, M., Gugasyan, L., Chan, Y., Malhotra, A., Seghal, A. & Tan, K., Feb 2017, In : Clinical Case Reports. 5, 2, p. 164-169 6 p.

Research output: Contribution to journalArticleOtherpeer-review

Open Access
File
2016
77 Citations (Scopus)

Disorders of sex development: Insights from targeted gene sequencing of a large international patient cohort

Eggers, S., Sadedin, S., van den Bergen, J. A., Robevska, G., Ohnesorg, T., Hewitt, J., Lambeth, L., Bouty, A., Knarston, I. M., Tan, T. Y., Cameron, F., Werther, G., Hutson, J., O'Connell, M., Grover, S. R., Heloury, Y., Zacharin, M., Bergman, P., Kimber, C., Brown, J. & 7 others, Webb, N., Hunter, M. F., Lafferty, A. R., Harley, V., Koopman, P., Ayers, K. L. & Sinclair, A. H., 29 Nov 2016, In : Genome Biology. 17, 1, 21 p., 243.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
File
12 Citations (Scopus)

Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report

Hwang, Y. T., Aliaga, S. M., Arpone, M., Francis, D., Li, X., Chong, B., Slater, H. R., Rogers, C., Bretherton, L., Hunter, M., Heard, R. & Godler, D. E., 1 Dec 2016, In : American Journal of Medical Genetics Part A. 170, 12, p. 3327-3332 6 p.

Research output: Contribution to journalArticleOtherpeer-review

49 Citations (Scopus)

Phenotypic insights into ADCY5-associated disease

Chang, F. C. F., Westenberger, A., Dale, R. C., Smith, M., Pall, H. S., Perez-Dueñas, B., Grattan-Smith, P., Ouvrier, R. A., Mahant, N., Hanna, B. C., Hunter, M., Lawson, J. A., Max, C., Sachdev, R., Meyer, E., Crimmins, D., Pryor, D., Morris, J. G. L., Münchau, A., Grozeva, D. & 5 others, Carss, K. J., Raymond, L., Kurian, M. A., Klein, C. & Fung, V. S. C., 1 Jul 2016, In : Movement Disorders. 31, 7, p. 1033-1040 8 p.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
File
2 Citations (Scopus)

Severe connective tissue laxity including aortic dilatation in Sotos syndrome

Hood, R. L., Mcgillivray, G., Hunter, M. F., Roberston, S. P., Bulman, D., Boycott, K., Stark, Z., Boycott, K., MacKenzie, A., Majewski, J., Brudno, M., Bulman, D., Dyment, D. & Care4Rare Canada Consortium, 1 Feb 2016, In : American Journal of Medical Genetics, Part A. 170, 2, p. 531-535 5 p.

Research output: Contribution to journalLetterResearchpeer-review

2015
4 Citations (Scopus)

A familial 7q36.3 duplication associated with agenesis of the corpus callosum

Wong, K., Moldrich, R., Hunter, M., Edwards, M., Finlay, D., O'Donnell, S., Macdougall, T., Bain, N. & Kamien, B., 1 Sep 2015, In : American Journal of Medical Genetics Part A. 167, 9, p. 2201-2208 8 p.

Research output: Contribution to journalArticleResearchpeer-review

19 Citations (Scopus)

THOC2 mutations implicate mRNA-Export pathway in X-Linked intellectual disability

Kumar Sharma, R., Corbett, M. A., Van Bon, B. W. M., Woenig, J. A., Weir, L., Douglas, E., Friend, K. L., Gardner, A., Shaw, M., Jolly, L. A., Tan, C., Hunter, M., Hackett, A. K., Field, M., Palmer, E. E., Leffler, M., Rogers, C. J., Boyle, J., Bienek, M., Jensen, C. & 11 others, Van Buggenhout, G., Van Esch, H., Hoffmann, K., Raynaud, M., Zhao, H., Reed, R., Hu, H., Haas, S. A., Haan, E., Kalscheuer, V. M. & Gecz, J., 2015, In : American Journal of Human Genetics. 97, p. 302 - 310 9 p.

Research output: Contribution to journalArticleResearchpeer-review

2014
8 Citations (Scopus)

Outfoxed by RBFOX1-A caution about ascertainment bias

Kamien, B., Lionel, A. C., Bain, N., Scherer, S. W. & Hunter, M., Jun 2014, In : American Journal of Medical Genetics Part A. 164, 6, p. 1411-1418 8 p.

Research output: Contribution to journalArticleResearchpeer-review

2013

Börjeson-Forssman-Lehmann Syndrome and PHF6

Corbett, M. A., Hunter, M. F. & Gecz, J., 2013, Inborn Errors of Development, the molecular basis of clinical disorders of morphogenesis (3rd edition). Oxford University Press, USA

Research output: Chapter in Book/Report/Conference proceedingChapter (Book)Researchpeer-review

51 Citations (Scopus)

FOXP1 mutations cause intellectual disability and a recognizable phenotype

Le Fevre, A. K., Taylor, S., Malek, N. H., Horn, D., Carr, C. W., Abdul-Rahman, O. A., O'Donnell, S., Burgess, T., Shaw, M., Gecz, J., Bain, N., Fagan, K. & Hunter, M. F., Dec 2013, In : American Journal of Medical Genetics, Part A. 161, 12, p. 3166-3175 10 p.

Research output: Contribution to journalArticleResearchpeer-review

17 Citations (Scopus)

Maternal attitudes to newborn screening for fragile X syndrome

Christie, L., Wotton, T., Bennetts, B., Wiley, V., Wilcken, B., Rogers, C., Boyle, J., Turner, C., Hansen, J., Hunter, M., Goel, H. & Field, M., Feb 2013, In : American Journal of Medical Genetics, Part A. 161, 2, p. 301-311 11 p.

Research output: Contribution to journalArticleResearchpeer-review

2011
11 Citations (Scopus)

Alpers syndrome with mutations in POLG: Clinical and investigative features

Hunter, M. F., Peters, H., Salemi, R., Thorburn, D. & MacKay, M. T., Nov 2011, In : Pediatric Neurology. 45, 5, p. 311-318 8 p.

Research output: Contribution to journalArticleResearchpeer-review

2010
18 Citations (Scopus)

A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33

Traylor, R. N., Bruno, D. L., Burgess, T., Wildin, R., Spencer, A., Ganesamoorthy, D., Amor, D. J., Hunter, M., Caplan, M., Rosenfeld, J. A., Theisen, A., Torchia, B. S., Shaffer, L. G., Ballif, B. C. & Slater, H. R., 2010, In : PLoS ONE. 5, 8, e12462.

Research output: Contribution to journalArticleResearchpeer-review

2009
3 Citations (Scopus)
416 Citations (Scopus)

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Rice, G. I., Bond, J., Asipu, A., Brunette, R. L., Manfield, I. W., Carr, I. M., Fuller, J. C., Jackson, R. M., Lamb, T., Briggs, T. A., Ali, M., Gornall, H., Couthard, L. R., Aeby, A., Attard-Montalto, S. P., Bertini, E., Bodemer, C., Brockmann, K., Brueton, L. A., Corry, P. C. & 31 others, Desguerre, I., Fazzi, E., Cazorla, A. G., Gener, B., Hamel, B. C. J., Heiberg, A., Hunter, M., Van Der Knaap, M. S., Kumar, R., Lagae, L., Landrieu, P. G., Lourenco, C. M., Marom, D., McDermott, M. F., Van Der Merwe, W., Orcesi, S., Prendiville, J. S., Rasmussen, M., Shalev, S. A., Soler, D. M., Shinawi, M., Spiegel, R., Tan, T. Y., Vanderver, A., Wakeling, E. L., Wassmer, E., Whittaker, E., Lebon, P., Stetson, D. B., Bonthron, D. T. & Crow, Y. J., Jul 2009, In : Nature Genetics. 41, 7, p. 829-832 4 p.

Research output: Contribution to journalArticleResearchpeer-review