20112019

Research output per year

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2018

Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

Croft, B. M., Ohnesorg, T., Hewitt, J., Bowles, J., Quinn, A., Tan, J., Corbin, V. D. A., Pelosi, E., Van Den Bergen, J., Sreenivasan, R., Knarston, I. M., Robevska, G., Vu, D. C., Hutson, J., Harley, V., Ayers, K., Koopman, P. & Sinclair, A., 14 Dec 2018, In : Nature Communications. 9, 1, 10 p., 5319.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
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17 Citations (Scopus)
2016

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
82 Citations (Scopus)

Increasing incidence of type 2 diabetes in Indigenous and non-Indigenous children in Western Australia, 1990-2012

Haynes, A., Kalic, R., Cooper, M., Hewitt, J. K. & Davis, E. A., 2 May 2016, In : Medical Journal of Australia. 204, 8, p. 303-303 1 p.

Research output: Contribution to journalArticleOtherpeer-review

7 Citations (Scopus)
2014

A guide to understanding the steroid pathway: New insights and diagnostic implications

Greaves, R. F., Jevalikar, G., Hewitt, J. K. & Zacharin, M. R., Oct 2014, In : Clinical Biochemistry. 47, 15, p. 5-15 11 p.

Research output: Contribution to journalArticleResearchpeer-review

17 Citations (Scopus)

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

Thorwarth, A., Schnittert-Hübener, S., Schrumpf, P., Müller, I., Jyrch, S., Dame, C., Biebermann, H., Kleinau, G., Katchanov, J., Schuelke, M., Ebert, G., Steininger, A., Bönnemann, C., Brockmann, K., Christen, H-J., Crock, P., deZegher, F., Griese, M., Hewitt, J., Ivarsson, S. & 9 others, Hübner, C., Kapelari, K., Plecko, B., Rating, D., Stoeva, I., Ropers, H-H., Grüters, A., Ullmann, R. & Krude, H., Jun 2014, In : Journal of Medical Genetics. 51, 6, p. 375-387 13 p.

Research output: Contribution to journalArticleResearchpeer-review

38 Citations (Scopus)
2013

Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study

Inaba, Y., Herlihy, A., Schwartz, C. E., Skinner, C., Bui, Q. M., Cobb, J. E., Shi, E. Z., Francis, D., Arvaj, A., Amor, D. J., Pope, K., Wotton, T., Cohen, J., Hewitt, J. K., Hagerman, R. J., Metcalfe, S. A., Hopper, J. L., Loesch, D. Z., Slater, H. & Godler, D. E., 2013, In : Genetics in Medicine. 15, 4, p. 290 - 298 9 p.

Research output: Contribution to journalArticleResearchpeer-review

13 Citations (Scopus)
2012

A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development

White, S., Hewitt, J., Turbitt, E., van der Zwan, Y., Hersmus, R., Drop, S. L. S., Koopman, P. A., Harley, V. R., Cools, M. C., Looijenga, L. H. & Sinclair, A. H., 2012, In : European Journal of Human Genetics. 20, 3, p. 348 - 351 4 p.

Research output: Contribution to journalArticleResearchpeer-review

29 Citations (Scopus)

Hormone treatment of gender identity disorder in a cohort of children and adolescents

Hewitt, J., Paul, C., Kaslannan, P., Grover, S., Newman, L. K. & Warne, G., 2012, In : Medical Journal of Australia. 196, 9, p. 578 - 581 4 p.

Research output: Contribution to journalArticleResearchpeer-review

29 Citations (Scopus)
2011

Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis

White, S. J., Ohnesorg, T., Notini, A., Roeszler, K., Hewitt, J., Daggag, H., Smith, C., Turbitt, E., Gustin, S., van den Bergen, J., Miles, D., Western, P., Arboleda, V., Schumacher, V., Gordon, L., Bell, K., Bengtsson, H., Speed, T., Hutson, J., Warne, G. L. & 4 others, Harley, V., Koopman, P., Vilain, E. & Sinclair, A., 2011, In : PLoS ONE. 6, 3, 10 p., e17793.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
87 Citations (Scopus)

Improving epinephrine responses in hypoglycemia unawareness with real-time continuous glucose monitoring in adolescents with type 1 diabetes

Ly, T., Hewitt, J., Davey, R. J., Lim, E. M., Davis, E. A. & Jones, T. W., Jan 2011, In : Diabetes Care. 34, 1, p. 50-52 3 p.

Research output: Contribution to journalArticleResearchpeer-review

49 Citations (Scopus)

Metastatic pheochromocytoma/paraganglioma related to primary tumor development in childhood or adolescence: Significant link to SDHB mutations

King, K. S., Prodanov, T., Kantorovich, V., Fojo, T., Hewitt, J. K., Zacharin, M., Wesley, R., Lodish, M., Raygada, M., Gimenez-Roqueplo, A. P., McCormack, S., Eisenhofer, G., Milosevic, D., Kebebew, E., Stratakis, C. A. & Pacak, K., 1 Nov 2011, In : Journal of Clinical Oncology. 29, 31, p. 4137-4142 6 p.

Research output: Contribution to journalArticleResearchpeer-review

102 Citations (Scopus)