Research Output

2020

Acupuncture or acupressure for pain management during labour

Smith, C. A., Collins, C. T., Levett, K. M., Armour, M., Dahlen, H. G., Tan, A. L. & Mesgarpour, B., 7 Feb 2020, In : Cochrane Database of Systematic Reviews. 2020, 2, CD009232.

Research output: Contribution to journalReview article

5 Citations (Scopus)

Adjusting for Treatment Switching in Oncology Trials: A Systematic Review and Recommendations for Reporting

Sullivan, T., Latimer, N. R., Gray, J., Sorich, M. J., Salter, A. B. & Karnon, J., 1 Mar 2020, In : Value in Health. 23, 3, p. 388-396 9 p.

Research output: Contribution to journalReview article

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

An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase

Pravata, V. M., Omelková, M., Stavridis, M. P., Desbiens, C. M., Stephen, H. M., Lefeber, D. J., Gecz, J., Gundogdu, M., Õunap, K., Joss, S., Schwartz, C. E., Wells, L. & van Aalten, D. M. F., 1 Jun 2020, In : European Journal of Human Genetics. 28, 6, p. 706-714 9 p.

Research output: Contribution to journalReview article

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., 1 Feb 2020, In : Obstetrical and Gynecological Survey. 75, 2, p. 79-80 2 p.

Research output: Contribution to journalComment/debate

A simple system for measuring the level of free fatty acids in human milk collected as dried milk spot

Gao, C., Liu, G., McPhee, A. J., Miller, J. & Gibson, R. A., 1 Jul 2020, In : Prostaglandins, leukotrienes, and essential fatty acids. 158, 1 p.

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

A Systematic Review of Collection and Analysis of Human Milk for Macronutrient Composition

Leghi, G. E., Middleton, P. F., Netting, M. J., Wlodek, M. E., Geddes, D. T. & Muhlhausler, B. S., 1 Jun 2020, In : Journal of Nutrition. 150, 6, p. 1652-1670 19 p.

Research output: Contribution to journalReview article

A Systematic Review of School-based Programs to Improve Adolescent Sexual and Reproductive Health: Considering the Role of Social Connectedness

Kedzior, S. G. E., Lassi, Z. S., Oswald, T. K., Moore, V. M., Marino, J. L. & Rumbold, A., 1 Jan 2020, In : Adolescent Research Review.

Research output: Contribution to journalReview article

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

Clinical practice guidelines for perinatal bereavement care — An overview

Boyle, F. M., Horey, D., Middleton, P. & Flenady, V., 1 Mar 2020, In : Women and Birth. 33, 2, p. 107-110 4 p.

Research output: Contribution to journalComment/debate

1 Citation (Scopus)

Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance

Thai, M. H. N., Gardner, A., Redpath, L., Mattiske, T., Dearsley, O., Shaw, M., Vulto-van Silfhout, A. T., Pfundt, R., Dixon, J., McGaughran, J., Pérez-Jurado, L. A., Gécz, J. & Shoubridge, C., 1 Jan 2020, (Accepted/In press) In : Human Mutation.

Research output: Contribution to journalArticle

Definition and diagnosis of cerebral palsy in genetic studies: a systematic review

Pham, R., Mol, B. W., Gecz, J., MacLennan, A. H., MacLennan, S. C., Corbett, M. A., van Eyk, C. L., Webber, D. L., Palmer, L. J. & Berry, J. G., 1 Jan 2020, (Accepted/In press) In : Developmental Medicine and Child Neurology.

Research output: Contribution to journalReview article

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., 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 Jul 2020, In : European Journal of Human Genetics. 28, 7, p. 973-978 6 p.

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., Pérez-Jurado, L. A., 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

International compliance with WHO infant feeding guidelines – Is the confusion cause for concern?

Allen, J. W., Edwards, N., Koplin, J. J., Netting, M. & Allen, K. J., 1 Mar 2020, In : Allergy: European Journal of Allergy and Clinical Immunology. 75, 3, p. 673-674 2 p.

Research output: Contribution to journalLetter

1 Citation (Scopus)

Interventions to prevent women from developing gestational diabetes mellitus: an overview of Cochrane Reviews

Griffith, R. J., Alsweiler, J., Moore, A. E., Brown, S., Middleton, P., Shepherd, E. & Crowther, C. A., 11 Jun 2020, In : The Cochrane database of systematic reviews. 6, p. CD012394

Research output: Contribution to journalReview article

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

Macro- and Micronutrients in Milk from Healthy Cambodian Mothers: Status and Interrelations

Whitfield, K. C., Shahab-Ferdows, S., Kroeun, H., Sophonneary, P., Green, T. J., Allen, L. H. & Hampel, D., 1 Jun 2020, In : Journal of Nutrition. 150, 6, p. 1461-1469 9 p.

Research output: Contribution to journalArticle

Open Access

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

Maternal dexamethasone before preterm births: implications for lower middle-income countries – Authors' reply

Crowther, C. A., Ashwood, P., Andersen, C. C., Middleton, P., Tran, T., Doyle, L. W., Robinson, J. S. & Harding, J. E., 1 Jan 2020, In : The Lancet Child and Adolescent Health. 4, 1, p. e2

Research output: Contribution to journalLetter

Measuring thiamine status in dried blood spots

Huang, Y., Gibson, R. A. & Green, T. J., Oct 2020, In : Clinica Chimica Acta. 509, p. 52-59 8 p.

Research output: Contribution to journalArticle

Men's grief following pregnancy loss and neonatal loss: A systematic review and emerging theoretical model

Obst, K. L., Due, C., Oxlad, M. & Middleton, P., 10 Jan 2020, In : BMC pregnancy and childbirth. 20, 1, 11.

Research output: Contribution to journalReview article

Micronutrient intake and prevalence of micronutrient inadequacy among women (15-49 y) and children (6-59 mo) in South Kivu and Kongo Central, Democratic Republic of the Congo (DRC)

Moumin, N. A., Angel, M. D., Karakochuk, C. D., Michaux, K. D., Moursi, M., Sawadogo, K. A. A., Foley, J., Hawes, M. D., Whitfield, K. C., Tugirimana, P. L., Bahizire, E., Akilimali, P. Z., Boy, E., Sullivan, T. R. & Green, T. J., 1 Jan 2020, In : PloS one. 15, 6, p. e0223393

Research output: Contribution to journalArticle

Open Access

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)