20112019

Research output per year

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Research Output

2019

Author Correction: Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9 (Nature Communications, (2018), 9, 1, (5319), 10.1038/s41467-018-07784-9)

Croft, B., Ohnesorg, T., Hewitt, J., Bowles, J., Quinn, A., Tan, J., Corbin, V., Pelosi, E., van den Bergen, J., Sreenivasan, R., Knarston, I., Robevska, G., Vu, D. C., Hutson, J., Harley, V., Ayers, K., Koopman, P. & Sinclair, A., 1 Dec 2019, In : Nature Communications. 10, 1, 3351.

Research output: Contribution to journalComment / DebateOtherpeer-review

Open Access
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
File
17 Citations (Scopus)
2017

Prophylactic Vitamin D Supplementation in High-Risk Breastfed Infants

Pinto, S., Bergman, P., Brown, J., Welch, J. & Hewitt, J. K., 1 Dec 2017, In : Journal of Paediatrics and Child Health. 53, 12, 1 p.

Research output: Contribution to journalLetterOtherpeer-review

1 Citation (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
83 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)

Preventing female virilisation in congenital adrenal hyperplasia: The controversial role of antenatal dexamethasone

Heland, S., Hewitt, J. K., McGillivray, G. & Walker, S. P., Jun 2016, In : Australian and New Zealand Journal of Obstetrics and Gynaecology. 56, 3, p. 225-232 8 p.

Research output: Contribution to journalReview ArticleResearchpeer-review

7 Citations (Scopus)
2015

Hormone replacement in disorders of sex development: Current thinking

Hewitt, J. & Zacharin, M., Jun 2015, In : Best Practice and Research in Clinical Endocrinology and Metabolism. 29, 3, p. 437-447 11 p.

Research output: Contribution to journalReview ArticleResearchpeer-review

7 Citations (Scopus)

Premature thelarche in the setting of high lavender oil exposure

Linklater, A. & Hewitt, J. K., 1 Feb 2015, In : Journal of Paediatrics and Child Health. 51, 2, p. 235 1 p.

Research output: Contribution to journalLetterOtherpeer-review

3 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

Fertility in turner syndrome

Hewitt, J. K., Jayasinghe, Y., Amor, D. J., Gillam, L. H., Warne, G. L., Grover, S. & Zacharin, M. R., Nov 2013, In : Clinical Endocrinology. 79, 5, p. 606-614 9 p.

Research output: Contribution to journalReview ArticleResearchpeer-review

41 Citations (Scopus)

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)

Reactive pituitary hyperplasia associated with paediatric primary hypothyroidism

Mills, N. J. W., Wong, S. C., Sabin, M. A. & Hewitt, J. K., May 2013, In : Journal of Paediatrics and Child Health. 49, 5, p. 421-422 2 p.

Research output: Contribution to journalLetterOtherpeer-review

2 Citations (Scopus)
2012

46, xx Disorders of Sex Development

Warne, G. L. & Hewitt, J. K., 1 Jan 2012, Disorders of Sex Development: An Integrated Approach to Management. Springer, p. 53-61 9 p.

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

1 Citation (Scopus)

46, XY DSD

Hewitt, J. K. & Warne, G. L., 1 Jan 2012, Disorders of Sex Development: An Integrated Approach to Management. Springer, p. 63-80 18 p.

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

1 Citation (Scopus)

Adverse effects of adult topical androgen use on children

Hewitt, J. K. & Zacharin, M. R., 5 Nov 2012, In : Medical Journal of Australia. 197, 9, p. 490 1 p.

Research output: Contribution to journalComment / DebateOtherpeer-review

2 Citations (Scopus)

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)

Ethical Principles for the Management of Children with Disorders of Sex Development: A Systematic Approach for Individual Cases

Gillam, L., Hewitt, J. K. & Warne, G. L., 1 Jan 2012, Disorders of Sex Development: An Integrated Approach to Management. Springer, p. 147-157 11 p.

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

2 Citations (Scopus)

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

Hewitt, J., Paul, C. & Newman, L. K., 2012, In : Medical Journal of Australia. 197, 5, p. 274 - 274 1 p.

Research output: Contribution to journalLetterOther

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)

Mixed Sex Chromosome and Ovo-Testicular DSD

Hewitt, J. K. & Warne, G. L., 1 Jan 2012, Disorders of Sex Development: An Integrated Approach to Management. Springer, p. 81-87 7 p.

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

1 Citation (Scopus)

The Medical Management of Disorders of Sex Development

Warne, G. L. & Hewitt, J. K., 1 Jan 2012, Disorders of Sex Development: An Integrated Approach to Management. Springer, p. 159-172 14 p.

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

1 Citation (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)

Ethical principles: An essential part of the process in disorders of sex development care

Gillam, L. H., Hewitt, J. K. & Warne, G. L., Nov 2011, In : Hormone Research in Paediatrics. 76, 5, p. 367-368 2 p.

Research output: Contribution to journalComment / DebateOtherpeer-review

7 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

50 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)