20092018

Research output per year

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Article

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

4 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

18 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

11 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
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83 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

53 Citations (Scopus)
3 Citations (Scopus)

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
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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

17 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

421 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

8 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

12 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
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50 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
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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
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3 Citations (Scopus)

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants [version 1; referees: 3 approved]

Tatton-Brown, K., Zachariou, A., Loveday, C., Renwick, A., Mahamdallie, S., Aksglaede, L., Baralle, D., Barge-Schaapveld, D., Blyth, M., Bouma, M., Breckpot, J., Crabb, B., Dabir, T., Cormier-Daire, V., Fauth, C., Fisher, R., Gener, B., Goudie, D., Homfray, T., Hunter, M. & 31 others, Jorgensen, A., Kant, S. G., Kirally-Borri, C., Koolen, D., Kumar, A., Labilloy, A., Lees, M., Marcelis, C., Mercer, C., Mignot, C., Miller, K., Neas, K., Newbury-Ecob, R., Pilz, D. T., Posmyk, R., Prada, C., Ramsey, K., Randolph, L. M., Selicorni, A., Shears, D., Suri, M., Temple, I. K., Turnpenny, P., Val Maldergem, L., Varghese, V., Veenstra-Knol, H. E., Yachelevich, N., Yates, L., Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study, Deciphering Developmental Disorders (DDD) Study & Rahman, N., 1 Jan 2018, In : Wellcome Open Research. 3, 17 p., 46.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
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18 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

20 Citations (Scopus)