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2020

Afghan families and health professionals’ access to health information during and after pregnancy

Riggs, E., Yelland, J., Szwarc, J., Duell-Piening, P., Wahidi, S., Fouladi, F., Casey, S., Chesters, D. & Brown, S., 1 May 2020, In : Women and Birth. 33, 3, p. e209-e215

Research output: Contribution to journalArticle

Assessing the quality of health research from an Indigenous perspective: the Aboriginal and Torres Strait Islander quality appraisal tool

Harfield, S., Pearson, O., Morey, K., Kite, E., Canuto, K., Glover, K., Gomersall, J. S., Carter, D., Davy, C., Aromataris, E. & Braunack-Mayer, A., 10 Apr 2020, In : BMC medical research methodology. 20, 1, p. 79

Research output: Contribution to journalArticle

Assessing the quality of health research from an Indigenous perspective: The Aboriginal and Torres Strait Islander quality appraisal tool

Harfield, S., Pearson, O., Morey, K., Kite, E., Canuto, K., Glover, K., Gomersall, J., Carter, D., Davy, C., Aromataris, E. & Braunack-Mayer, A., 10 Apr 2020, In : BMC medical research methodology. 20, 1, 79.

Research output: Contribution to journalArticle

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy

Kolc, K. L., Sadleir, L. G., Depienne, C., Marini, C., Scheffer, I. E., Møller, R. S., Trivisano, M., Specchio, N., Pham, D., Kumar, R., Roberts, R. & Gecz, J., 1 Dec 2020, In : Translational Psychiatry. 10, 1, 127.

Research output: Contribution to journalArticle

Chromatin-Binding Protein PHF6 Regulates Activity-Dependent Transcriptional Networks to Promote Hunger Response

Gan, L., Sun, J., Yang, S., Zhang, X., Chen, W., Sun, Y., Wu, X., Cheng, C., Yuan, J., Li, A., Corbett, M. A., Dixon, M. P., Thomas, T., Voss, A. K., Gecz, J., Wang, G. Z., Bonni, A., Li, Q. & Huang, J., 17 Mar 2020, In : Cell Reports. 30, 11, p. 3717-3728.e6

Research output: Contribution to journalArticle

DNA extraction approaches substantially influence the assessment of the human breast milk microbiome

Douglas, C. A., Ivey, K. L., Papanicolas, L. E., Best, K. P., Muhlhausler, B. S. & Rogers, G. B., 10 Jan 2020, In : Scientific Reports. 10, 1, p. 123

Research output: Contribution to journalArticle

1 Citation (Scopus)

Economic burden of maternal morbidity – A systematic review of cost-of-illness studies

Moran, P. S., Wuytack, F., Turner, M., Normand, C., Brown, S., Begley, C. & Daly, D., 1 Jan 2020, In : PLoS ONE. 15, 1, e0227377.

Research output: Contribution to journalArticle

Economic evaluation of an enhanced homestead food production intervention for undernutrition in women and children in rural Cambodia

Dragojlovic, N., Michaux, K. D., Moumin, N. A., Li, K. H., Talukder, Z., Hou, K., Mundy, G., Stormer, A., Ngik, R., Green, T. & Lynd, L. D., 1 Mar 2020, In : Global Food Security. 24, 100335.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Effect of once weekly folic acid supplementation on erythrocyte folate concentrations in women to determine potential to prevent neural tube defects: A randomised controlled dose-finding trial in Malaysia

Samson, K. L. I., Loh, S. P., Khor, G. L., Mohd Shariff, Z., Yelland, L., Leemaqz, S., Makrides, M., Hutcheon, J. A., Sulistyoningrum, D. C., Yu, J. J., Roche, M. L., De-Regil, L. M., Green, T. & Karakochuk, C. D., 5 Feb 2020, In : BMJ Open. 10, 2, e034598.

Research output: Contribution to journalArticle

Emotional-behavioral resilience and competence in preschool children exposed and not exposed to intimate partner violence in early life

Fogarty, A., Giallo, R., Wood, C., Kaufman, J. & Brown, S., 1 Mar 2020, In : International Journal of Behavioral Development. 44, 2, p. 97-106 10 p.

Research output: Contribution to journalArticle

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Groupe DI France, 5 Mar 2020, In : American Journal of Human Genetics. 106, 3, p. 356-370 15 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)

EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities

Shaw, M., Winczewska-Wiktor, A., Badura-Stronka, M., Koirala, S., Gardner, A., Kuszel, Ł., Kowal, P., Steinborn, B., Starczewska, M., Garry, S., Scheffer, I. E., Berkovic, S. F. & Gecz, J., 1 Apr 2020, In : European Journal of Medical Genetics. 63, 4, 103799.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor

Kumar, R., Palmer, E., Gardner, A. E., Carroll, R., Banka, S., Abdelhadi, O., Donnai, D., Elgersma, Y., Curry, C. J., Gardham, A., Suri, M., Malla, R., Brady, L. I., Tarnopolsky, M., Azmanov, D. N., Atkinson, V., Black, M., Baynam, G., Dreyer, L., Hayeems, R. Z. & 8 others, Marshall, C. R., Costain, G., Wessels, M. W., Baptista, J., Drummond, J., Leffler, M., Field, M. & Gecz, J., 11 Feb 2020, In : Frontiers in Molecular Neuroscience. 13, 12.

Research output: Contribution to journalArticle

Extreme downregulation of chromosome Y and Alzheimer's disease in men

Caceres, A., Jene, A., Esko, T., Perez-Jurado, L. & Gonzalez, J. R., 1 Jun 2020, In : Neurobiology of Aging. 90, p. 150.e1-150.e4

Research output: Contribution to journalArticle

Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families

Bennett, M. F., Oliver, K. L., Regan, B. M., Bellows, S. T., Schneider, A. L., Rafehi, H., Sikta, N., Crompton, D. E., Coleman, M., Hildebrand, M. S., Corbett, M. A., Kroes, T., Gecz, J., Scheffer, I. E., Berkovic, S. F. & Bahlo, M., 1 Jan 2020, In : European Journal of Human Genetics.

Research output: Contribution to journalArticle

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

Urreizti, R., Lopez-Martin, E., Martinez-Monseny, A., Pujadas, M., Castilla-Vallmanya, L., Perez-Jurado, L., Serrano, M., Natera-De Benito, D., Martínez-Delgado, B., Posada-De-La-Paz, M., Alonso, J., Marin-Reina, P., O'callaghan, M., Grinberg, D., Bermejo-Sánchez, E. & Balcells, S., 10 Feb 2020, In : Orphanet Journal of Rare Diseases. 15, 1, 44.

Research output: Contribution to journalArticle

Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor

The SOGRI Consortium, 1 Mar 2020, In : Clinical Genetics. 97, 3, p. 467-476 10 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Heterozygous rare genetic variants in non-syndromic early-onset obesity

Serra-Juhé, C., Martos-Moreno, G., Bou de Pieri, F., Flores, R., Chowen, J. A., Perez-Jurado, L. & Argente, J., 1 Apr 2020, In : International Journal of Obesity. 44, 4, p. 830-841 12 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)

Infant sleep and child mental health: A longitudinal investigation

Cook, F., Conway, L. J., Giallo, R., Gartland, D., Sciberras, E. & Brown, S., 1 Jan 2020, In : Archives of Disease in Childhood. 318014.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Infertility in Aboriginal and Torres Strait Islander people: A cause for concern?

Gilbert, E. W., Boyle, J. A., Campbell, S. K. & Rumbold, A. R., 1 Jun 2020, In : Australian and New Zealand Journal of Obstetrics and Gynaecology. 60, 3, p. 479-481 3 p.

Research output: Contribution to journalArticle

Intimate partner violence and maternal mental health ten years after a first birth: An Australian prospective cohort study of first-time mothers

Brown, S., Mensah, F., Giallo, R., Woolhouse, H., Hegarty, K., Nicholson, J. M. & Gartland, D., 1 Feb 2020, In : Journal of Affective Disorders. 262, p. 247-257 11 p.

Research output: Contribution to journalArticle

Intravenous fat induces changes in PUFA and their bioactive metabolites: Comparison between Japanese and Australian preterm infants

Suganuma, H., McPhee, A., Collins, C., Liu, G., Leemaqz, S., Andersen, C. C., Ikeda, N., Ohkawa, N., Taha, A. Y. & Gibson, R., 1 May 2020, In : Prostaglandins Leukotrienes and Essential Fatty Acids. 156, 102026.

Research output: Contribution to journalArticle

Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy

Sadleir, L. G., Kolc, K. L., King, C., Mefford, H. C., Dale, R. C., Gecz, J. & Scheffer, I. E., 1 Jan 2020, In : European Journal of Paediatric Neurology. 24, p. 142-147 6 p.

Research output: Contribution to journalArticle

Linking data from a large clinical trial with the Australian Cerebral Palsy Register

Shepherd, E., Mcintyre, S., Smithers-Sheedy, H., Ashwood, P., Sullivan, T. R., te Velde, A., Doyle, L. W., Makrides, M., Middleton, P. & Crowther, C. A., 1 Jan 2020, (Accepted/In press) In : Developmental Medicine and Child Neurology.

Research output: Contribution to journalArticle

Maternal childhood abuse and children's emotional-behavioral difficulties: Intergenerational transmission via birth outcomes and psychosocial health

Giallo, R., Gartland, D., Seymour, M., Conway, L., Mensah, F., Skinner, L., Fogarty, A. & Brown, S., 1 Feb 2020, In : Journal of Family Psychology. 34, 1, p. 112-121 10 p.

Research output: Contribution to journalArticle

Moderating effects of prior brand usage on visual attention to video advertising and recall: An eye-tracking investigation

Simmonds, L., Bellman, S., Kennedy, R., Nenycz-Thiel, M. & Bogomolova, S., 1 Apr 2020, In : Journal of Business Research. 111, p. 241-248 8 p.

Research output: Contribution to journalArticle

Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies

Bogliolo, M., Pujol, R., Aza-Carmona, M., Muñoz-Subirana, N., Rodriguez-Santiago, B., Casado, J. A., Rio, P., Bauser, C., Reina-Castillón, J., Lopez-Sanchez, M., Gonzalez-Quereda, L., Gallano, P., Catalá, A., Ruiz-Llobet, A., Badell, I., DIaz-Heredia, C., Hladun, R., Senent, L., Argiles, B., Bergua Burgues, J. M. & 48 others, Bañez, F., Arrizabalaga, B., López Almaraz, R., Lopez, M., Figuera, Á., Molinés, A., Pérez De Soto, I., Hernando, I., Muñoz, J. A., Del Rosario Marin, M., Balmaña, J., Stjepanovic, N., Carrasco, E., Cuesta, I., Cosuelo, J. M., Regueiro, A., Moraleda Jimenez, J., Galera-Miñarro, A. M., Rosiñol, L., Carrió, A., Beléndez-Bieler, C., Escudero Soto, A., Cela, E., De La Mata, G., Fernández-Delgado, R., Garcia-Pardos, M. C., Sáez-Villaverde, R., Barragaño, M., Portugal, R., Lendinez, F., Hernadez, I., Vagace, J. M., Tapia, M., Nieto, J., Garcia, M., Gonzalez, M., Vicho, C., Galvez, E., Valiente, A., Antelo, M. L., Ancliff, P., Garcia, F., Dopazo, J., Sevilla, J., Paprotka, T., Perez-Jurado, L., Bueren, J. & Surralles, J., 1 Apr 2020, In : Journal of Medical Genetics. 57, 4, p. 258-268 11 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Plasma oxylipins and unesterified precursor fatty acids are altered by DHA supplementation in pregnancy: Can they help predict risk of preterm birth?

Ramsden, C. E., Makrides, M., Yuan, Z. X., Horowitz, M. S., Zamora, D., Yelland, L. N., Best, K., Jensen, J., Taha, A. Y. & Gibson, R. A., Feb 2020, In : Prostaglandins Leukotrienes and Essential Fatty Acids. 153, 102041.

Research output: Contribution to journalArticle

Recurrence patterns identify aggressive form of human papillomavirus-dependent vulvar cancer

McWhirter, R. E., Otahal, P., Taylor-Thomson, D., Maypilama, E. L., Rumbold, A., Dickinson, J. L., Thorn, J. C., Boyle, J. A. & Condon, J. R., 1 Apr 2020, In : Australian and New Zealand Journal of Obstetrics and Gynaecology. 60, 2, p. 231-237 7 p.

Research output: Contribution to journalArticle

Red blood cell folate likely overestimated in australian national survey: Implications for neural tube defect risk

Hunt, S. E., Netting, M. J., Sullivan, T. R., Best, K. P., Houghton, L. A., Makrides, M., Muhlhausler, B. S. & Green, T. J., May 2020, In : Nutrients. 12, 5, 1283.

Research output: Contribution to journalArticle

The short-term impact of dietary fat and sugar intake on breast milk composition: A clinical trial protocol

Leghi, G. E., Netting, M. & Muhlhausler, B. S., 1 Mar 2020, In : Nutrition and Health. 26, 1, p. 65-72 8 p.

Research output: Contribution to journalArticle

The Victorian Intergenerational Health Cohort Study (VIHCS): Study design of a preconception cohort from parent adolescence to offspring childhood

Spry, E., Olsson, C. A., Hearps, S. J. C., Aarsman, S., Carlin, J. B., Howard, L. M., Moreno-Betancur, M., Romaniuk, H., Doyle, L. W., Brown, S., Borschmann, R., Alway, Y., Coffey, C. & Patton, G. C., 1 Jan 2020, In : Paediatric and Perinatal Epidemiology. 34, 1, p. 86-98 13 p.

Research output: Contribution to journalArticle

Top 10 research priorities for human milk banking and use of donor human milk: A partnership between parents and clinicians

Matthews, E., Collins, C. T., Ellison, V., Hussey, L., Slade, J., Keir, A. & Miller, J., 1 May 2020, In : Journal of Paediatrics and Child Health. 56, 5, p. 770-776 7 p.

Research output: Contribution to journalArticle

X-linked intellectual disability: Phenotypic expression in carrier females

Ziats, C. A., Schwartz, C. E., Gecz, J., Shaw, M., Field, M. J., Stevenson, R. E. & Neri, G., 1 Mar 2020, In : Clinical Genetics. 97, 3, p. 418-425 8 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)

‘It requires something drastic’: Interviews with health care leaders about organisational responses to social disadvantage

Yelland, J., Riggs, E., Dawson, W., Vanpraag, D., Szwarc, J. & Brown, S., 1 Jan 2020, In : Women and Birth.

Research output: Contribution to journalArticle

‘Working Out Dads’ to promote men’s mental and physical health in early fatherhood: A mixed-methods evaluation

Giallo, R., Williams, L. A., Seymour, M., Jillard, C., Peace, R., O’Brien, J., Evans, K., Brown, S. & Wood, C., 1 Jan 2020, In : Journal of Family Studies.

Research output: Contribution to journalArticle

2019

Adequate vitamin b 12 and riboflavin status from menus alone in residential care facilities in the lower mainland, british columbia

Whitfield, K. C., da Silva, L., Feldman, F., Singh, S., McCann, A., McAnena, L., Ward, M., McNulty, H., Barr, S. I. & Green, T., 1 Jan 2019, In : Applied Physiology, Nutrition and Metabolism. 44, 4, p. 414-419 (

Research output: Contribution to journalArticle

Agreement between markers of population iodine status in classifying iodine status of populations: A systematic review

Wassie, M. M., Middleton, P. & Zhou, S. J., 1 Oct 2019, In : American Journal of Clinical Nutrition. 110, 4, p. 949-958 10 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)

A mouse model for intellectual disability caused by mutations in the X-linked 2′‑O‑methyltransferase Ftsj1 gene

Jensen, L. R., Garrett, L., Hölter, S. M., Rathkolb, B., Rácz, I., Adler, T., Prehn, C., Hans, W., Rozman, J., Becker, L., Aguilar-Pimentel, J. A., Puk, O., Moreth, K., Dopatka, M., Walther, D. J., von Bohlen und Halbach, V., Rath, M., Delatycki, M., Bert, B., Fink, H. & 22 others, Blümlein, K., Ralser, M., Van Dijck, A., Kooy, F., Stark, Z., Müller, S., Scherthan, H., Gecz, J., Wurst, W., Wolf, E., Zimmer, A., Klingenspor, M., Graw, J., Klopstock, T., Busch, D., Adamski, J., Fuchs, H., Gailus-Durner, V., de Angelis, M. H., von Bohlen und Halbach, O., Ropers, H. H. & Kuss, A. W., 1 Sep 2019, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1865, 9, p. 2083-2093 11 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)

Anaemia in early childhood among Aboriginal and Torres Strait Islander children of Far North Queensland: a retrospective cohort study

Leonard, D., Buttner, P., Thompson, F., Makrides, M. & McDermott, R., 1 Jun 2019, In : Australian and New Zealand Journal of Public Health. 43, 4, p. 319-327 9 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Analysis of diagnostic data for sexually transmissible infections in South Australian Aboriginal Community Controlled Health Services (2008-16)

Elliott, S., Betts, S., Hobbs, K., Wand, H., Rumbold, A., Ward, J. & Johnson, D. R., 18 Oct 2019, In : Sexual Health. 16, 6, p. 566-573 8 p.

Research output: Contribution to journalArticle

A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

Mucha, B. E., Banka, S., Ajeawung, N. F., Molidperee, S., Chen, G. G., Koenig, M. K., Adejumo, R. B., Till, M., Harbord, M., Perrier, R., Lemyre, E., Boucher, R. M., Skotko, B. G., Waxler, J. L., Thomas, M. A., Hodge, J. C., Gecz, J., Nicholl, J., McGregor, L., Linden, T. & 5 others, Sisodiya, S. M., Sanlaville, D., Cheung, S. W., Ernst, C. & Campeau, P. M., 1 May 2019, In : Genetics in Medicine. 21, 5, p. 1058-1064 7 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)

A randomized trial of prenatal n−3 fatty acid supplementation and preterm delivery

Makrides, M., Best, K., Yelland, L., McPhee, A., Zhou, S., Quinlivan, J., Dodd, J., Atkinson, E., Safa, H., Van Dam, J., Khot, N., Dekker, G., Skubisz, M., Anderson, A., Kean, B., Bowman, A., McCallum, C., Cashman, K. & Gibson, R., 12 Sep 2019, In : New England Journal of Medicine. 381, 11, p. 1035-1045 11 p.

Research output: Contribution to journalArticle

7 Citations (Scopus)