Research Output 1972 2019

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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

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 othersSisodiya, 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

1 Citation (Scopus)

Approaches to understanding and interpreting the risks of red blood cell transfusion in neonates

Keir, A., New, H., Robitaille, N., Crighton, G. L., Wood, E. M. & Stanworth, S. J., 1 Jan 2019, (Accepted/In press) In : Transfusion Medicine.

Research output: Contribution to journalArticle

Are there interventions that improve breastfeeding and the use of breast milk in late preterm infants?

Evans, L., Hilditch, C. & Keir, A., 1 Apr 2019, In : Journal of Paediatrics and Child Health. 55, 4, p. 477-480 4 p.

Research output: Contribution to journalArticle

Association Between Maternal Iodine Intake in Pregnancy and Childhood Neurodevelopment at Age 18 Months

Zhou, S. J., Condo, D., Ryan, P., Skeaff, S. A., Howell, S., Anderson, P. J., McPhee, A. J. & Makrides, M., 1 Feb 2019, In : American journal of epidemiology. 188, 2, p. 332-338 7 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

B Part of It study: a longitudinal study to assess carriage of Neisseria meningitidis in first year university students in South Australia

McMillan, M., Walters, L., Mark, T., Lawrence, A., Leong, L. E. X., Sullivan, T., Rogers, G., Andrews, R. M. & Marshall, H. S., 3 Apr 2019, In : Human Vaccines and Immunotherapeutics. 15, 4, p. 987-994 8 p.

Research output: Contribution to journalArticle

Can the Bayley Scales of Infant Development at 18 months predict child behaviour at 7 years?

Gould, J., Hunt, E., Roberts, R. M., Louise, J., Collins, C. & Makrides, M., 1 Jan 2019, In : Journal of Paediatrics and Child Health. 55, 1, p. 74-81 8 p.

Research output: Contribution to journalArticle

Cesarean section in Ethiopia: prevalence and sociodemographic characteristics

Yisma, E., Smithers, L. G., Lynch, J. W. & Mol, B., 3 Apr 2019, In : Journal of Maternal-Fetal and Neonatal Medicine. 32, 7, p. 1130-1135 6 p.

Research output: Contribution to journalArticle

Community engagement in the Aboriginal Families Study: Strategies to promote participation

Weetra, D., Glover, K., Miller, R., Wilson, R., Leane, C., Stuart-Butler, D., Mitchell, A., Gartland, D. & Brown, S., 1 Feb 2019, In : Women and Birth. 32, 1, p. 72-79 8 p.

Research output: Contribution to journalArticle

Correction to: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay (Genetics in Medicine, (2018), 10.1038/s41436-018-0290-3)

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 othersSisodiya, S. M., Sanlaville, D., Cheung, S. W., Ernst, C. & Campeau, P. M., 1 Jan 2019, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Docosahexaenoic acid supplementation of preterm infants and parent-reported symptoms of allergic disease at 7 years corrected age: follow-up of a randomized controlled trial

Gunaratne, A. W., Makrides, M., Collins, C. T., Gibson, R. A., McPhee, A. J., Sullivan, T. R., Gould, J. F., Green, T. J., Doyle, L. W., Davis, P. G., French, N. P., Colditz, P. B., Simmer, K., Morris, S. A. & Best, K. P., 9 May 2019, In : The American journal of clinical nutrition.

Research output: Contribution to journalArticle

Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders

Srivastava, S., Niranjan, T., May, M. M., Tarpey, P., Allen, W., Hackett, A., Jouk, P. S., Raymond, L., Briault, S., Skinner, C., Toutain, A., Gecz, J., Heath, W., Stevenson, R. E., Schwartz, C. E. & Wang, T., 1 Apr 2019, In : Molecular Genetics and Genomic Medicine. 7, 4, e00569.

Research output: Contribution to journalArticle

Effects of repeat prenatal corticosteroids given to women at risk of preterm birth: An individual participant data meta-analysis

PRECISE Group, 1 Apr 2019, In : PLoS Medicine. 16, 4, p. e1002771

Research output: Contribution to journalArticle

1 Citation (Scopus)

Exenatide corrects postprandial hyperglycaemia in young people with cystic fibrosis and impaired glucose tolerance: A randomized crossover trial

Geyer, M. C., Sullivan, T., Tai, A., Morton, J. M., Edwards, S., Martin, A. J., Perano, S. J., Gagliardi, L., Rayner, C. K., Horowitz, M. & Couper, J. J., 1 Mar 2019, In : Diabetes, Obesity and Metabolism. 21, 3, p. 700-704 5 p.

Research output: Contribution to journalArticle

Gestational age and maternal status of DHA and other polyunsaturated fatty acids in pregnancy: A systematic review

Wilson, N. A., Mantzioris, E., Middleton, P. & Muhlhausler, B. S., 1 May 2019, In : Prostaglandins Leukotrienes and Essential Fatty Acids. 144, p. 16-31 16 p.

Research output: Contribution to journalArticle

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 Jan 2019, In : International Journal of Obesity.

Research output: Contribution to journalArticle

Maternal dietary ratio of linoleic acid to alpha-linolenic acid during pregnancy has sex-specific effects on placental and fetal weights in the rat

Draycott, S. A. V., Liu, G., Daniel, Z. C., Elmes, M. J., Muhlhausler, B. S. & Langley-Evans, S. C., 3 Jan 2019, In : Nutrition and Metabolism. 16, 1, 1.

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 Jan 2019, In : Journal of Business Research.

Research output: Contribution to journalArticle

Serial fatty acid profiles in a preterm infant with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Suganuma, H., McPhee, A., Bratkovic, D., Gibson, R. & Andersen, C. C., 1 Apr 2019, In : Pediatrics International. 61, 4, p. 415-416 2 p.

Research output: Contribution to journalArticle

Understanding Preferences for Dietary Supplements and Fortified Food during Pregnancy: A Discrete Choice Experiment

Malek, L., Umberger, W. J., Zhou, S. J., Makrides, M. & Huynh, E., 1 Jan 2019, In : Journal of Food Products Marketing.

Research output: Contribution to journalArticle

2018
8 Citations (Scopus)

Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy

Pederick, D. T., Richards, K. L., Piltz, S. G., Kumar, R., Mincheva-Tasheva, S., Mandelstam, S. A., Dale, R. C., Scheffer, I. E., Gecz, J., Petrou, S., Hughes, J. N. & Thomas, P. Q., 3 Jan 2018, In : Neuron. 97, 1, p. 59-66.e5

Research output: Contribution to journalArticle

2 Citations (Scopus)

Accounting for twin births in sample size calculations for randomised trials

Yelland, L., Sullivan, T., Collins, C., Price, D. J., McPhee, A. & Lee, K. J., 1 Jul 2018, In : Paediatric and Perinatal Epidemiology. 32, 4, p. 380-387 8 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Jansen, S., Hoischen, A., Coe, B. P., Carvill, G. L., Van Esch, H., Bosch, D. G. M., Andersen, U. A., Baker, C., Bauters, M., Bernier, R. A., Van Bon, B. W., Claahsen-Van Der Grinten, H. L., Gecz, J., Gilissen, C., Grillo, L., Hackett, A., Kleefstra, T., Koolen, D., Kvarnung, M., Larsen, M. J. & 21 othersMarcelis, C., McKenzie, F., Monin, M. L., Nava, C., Schuurs-Hoeijmakers, J. H., Pfundt, R., Steehouwer, M., Stevens, S. J. C., Stumpel, C. T., Vansenne, F., Vinci, M., Van De Vorst, M., Vries, P. D., Witherspoon, K., Veltman, J. A., Brunner, H. G., Mefford, H. C., Romano, C., Vissers, L. E. L. M., Eichler, E. E. & De Vries, B. B. A., 1 Jan 2018, In : European Journal of Human Genetics. 26, 1, p. 54-63 10 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Anaemia in pregnancy among Aboriginal and Torres Strait Islander women of Far North Queensland: A retrospective cohort study

Leonard, D., Buttner, P., Thompson, F., Makrides, M. & McDermott, R., 1 Jan 2018, In : Nutrition and Dietetics. 75, 5, p. 457-467 11 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)

Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism

Van Eyk, C. L., Corbett, M. A., Gardner, A., Van Bon, B. W., Broadbent, J. L., Harper, K., MacLennan, A. H. & Gecz, J., 1 Dec 2018, In : Translational psychiatry. 8, 1, 88.

Research output: Contribution to journalArticle

2 Citations (Scopus)

Analysis of sequential hair segments reflects changes in the metabolome across the trimesters of pregnancy

Delplancke, T. D. J., De Seymour, J., Tong, C., Sulek, K., Xia, Y., Zhang, H., Han, T. L. & Baker, P. N., 8 Jan 2018, In : Scientific Reports. 8, 1, 36.

Research output: Contribution to journalArticle

A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation

Khayat, W., Hackett, A., Shaw, M., Ilie, A., Dudding-Byth, T., Kalscheuer, V. M., Christie, L., Corbett, M. A., Juusola, J., Friend, K. L., Kirmse, B. M., Gecz, J., Field, M. & Orlowski, J., 17 Oct 2018, In : Human molecular genetics.

Research output: Contribution to journalArticle

1 Citation (Scopus)
3 Citations (Scopus)

Association between maternal exposure to phthalates and lower language ability in offspring derived from hair metabolome analysis

Jones, B., Han, T. L., Delplancke, T., McKenzie, E. J., De Seymour, J., Chua, M. C., Tan, K. H. & Baker, P. N., 30 Apr 2018, In : Scientific Reports. 8, 1, 6745.

Research output: Contribution to journalArticle

1 Citation (Scopus)

A stable method for routine analysis of oxylipins from dried blood spots using ultra-high performance liquid chromatography–tandem mass spectrometry

Hewawasam, E., Liu, G., Jeffery, D. W., Muhlhausler, B. S. & Gibson, R., 1 Oct 2018, In : Prostaglandins Leukotrienes and Essential Fatty Acids. 137, p. 12-18 7 p.

Research output: Contribution to journalArticle

Asymptomatic bacteriuria and urinary tract infection in pregnant women with and without diabetes: Cohort study

Schneeberger, C., Erwich, J. J. H. M., van den Heuvel, E. R., Mol, B., Ott, A. & Geerlings, S. E., 1 Mar 2018, In : European Journal of Obstetrics and Gynecology and Reproductive Biology. 222, p. 176-181 6 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)

A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity

Kolc, K. L., Sadleir, L. G., Scheffer, I. E., Ivancevic, A., Roberts, R., Pham, D. H. & Gecz, J., 11 Jun 2018, (Accepted/In press) In : Molecular psychiatry. p. 1-11 11 p.

Research output: Contribution to journalArticle

8 Citations (Scopus)

A Upf3b-mutant mouse model with behavioral and neurogenesis defects

Huang, L., Shum, E. Y., Jones, S. H., Lou, C. H., Dumdie, J., Kim, H., Roberts, A. J., Jolly, L. A., Espinoza, J. L., Skarbrevik, D. M., Phan, M. H., Cook-Andersen, H., Swerdlow, N. R., Gecz, J. & Wilkinson, M. F., 1 Aug 2018, In : Molecular psychiatry. 23, 8, p. 1773-1786 14 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)

Bigscale: An analytical framework for big-scale single-cell data

Iacono, G., Mereu, E., Guillaumet-Adkins, A., Corominas, R., Cusco, I., Rodríguez-Esteban, G., Gut, M., Perez-Jurado, L., Gut, I. & Heyn, H., 1 Jun 2018, In : Genome Research. 28, 6, p. 878-890 13 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)

B Part of It protocol: A cluster randomised controlled trial to assess the impact of 4CMenB vaccine on pharyngeal carriage of Neisseria meningitidis in adolescents

Marshall, H. S., McMillan, M., Koehler, A., Lawrence, A., Maclennan, J. M., Maiden, M. C. J., Ramsay, M., Ladhani, S. N., Trotter, C., Borrow, R., Finn, A., Sullivan, T., Richmond, P., Kahler, C. M., Whelan, J. & Vadivelu, K., 1 Jul 2018, In : BMJ open. 8, 7, e020988.

Research output: Contribution to journalArticle

11 Citations (Scopus)

Care in subsequent pregnancies following stillbirth: an international survey of parents

Wojcieszek, A. M., Boyle, F. M., Belizán, J. M., Cassidy, J., Cassidy, P., Erwich, J. J. H. M., Farrales, L., Gross, M. M., Heazell, A. E. P., Leisher, S. H., Mills, T., Murphy, M., Pettersson, K., Ravaldi, C., Ruidiaz, J., Siassakos, D., Silver, R. M., Storey, C., Vannacci, A., Middleton, P. & 2 othersEllwood, D. & Flenady, V., 1 Jan 2018, In : BJOG: An International Journal of Obstetrics and Gynaecology. 125, 2, p. 193-201 9 p.

Research output: Contribution to journalArticle

Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability

Francesca, M., Bertrand, I., Omar, A-R., Gunter, A., Lijia, H., Kumar, R., Chandree, B., Gecz, J., Micheil, I., Jean-Louis, M. & Amélie, P., 21 Nov 2018, In : Human molecular genetics.

Research output: Contribution to journalArticle

Clinical implication of FMR1 intermediate alleles in a Spanish population

Alvarez-Mora, M. I., Madrigal, I., Martinez, F., Tejada, M. I., Izquierdo-Alvarez, S., Sanchez-Villar de Saz, P., Caro-Llopis, A., Villate, O., Rodríguez-Santiago, B., Perez-Jurado, L., Rodriguez-Revenga, L. & Milà, M., 1 Jul 2018, In : Clinical Genetics. 94, 1, p. 153-158 6 p.

Research output: Contribution to journalArticle

Community-based antibiotic delivery for possible serious bacterial infections in neonates in low- and middle-income countries

Duby, J., Lassi, Z. & Bhutta, Z. A., 10 Jan 2018, In : Cochrane Database of Systematic Reviews. 2018, 1, CD007646.

Research output: Contribution to journalArticle

2 Citations (Scopus)

Comparing induction of labour with oral misoprostol or Foley catheter at term: cost-effectiveness analysis of a randomised controlled multi-centre non-inferiority trial

ten Eikelder, M. L. G., van Baaren, G. J., Oude Rengerink, K., Jozwiak, M., de Leeuw, J. W., Kleiverda, G., Evers, I., de Boer, K., Brons, J., Bloemenkamp, K. W. M. & Mol, B., 1 Feb 2018, In : BJOG: An International Journal of Obstetrics and Gynaecology. 125, 3, p. 375-383 9 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)

Comparison of Human Milk Fatty Acid Composition of Women From Cambodia and Australia

Gao, C., Liu, G., Whitfield, K. C., Kroeun, H., Green, T. J., Gibson, R. A., Makrides, M. & Zhou, S. J., 1 Aug 2018, In : Journal of Human Lactation. 34, 3, p. 585-591 7 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)

Comparison of planned caesarean delivery and planned vaginal delivery in women with a twin pregnancy: A nation wide cohort study

Goossens, S. M. T. A., Ensing, S., van der Hoeven, M. A. H. B. M., Roumen, F. J. M. E., Nijhuis, J. G. & Mol, B. W., 1 Feb 2018, In : European Journal of Obstetrics and Gynecology and Reproductive Biology. 221, p. 97-104 8 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)

Concentrations of water-soluble forms of choline in human milk from lactating women in Canada and Cambodia

Wiedeman, A. M., Whitfield, K. C., March, K. M., Chen, N. N., Kroeun, H., Sokhoing, L., Sophonneary, P., Dyer, R. A., Xu, Z., Kitts, D. D., Green, T., Innis, S. M. & Barr, S. I., 20 Mar 2018, In : Nutrients. 10, 3, 381.

Research output: Contribution to journalArticle

Correlation between neonatal outcomes of twins depends on the outcome: secondary analysis of twelve randomised controlled trials

Yelland, L. N., Schuit, E., Zamora, J., Middleton, P. F., Lim, A. C., Nassar, A. H., Rode, L., Serra, V., Thom, E. A., Vayssière, C., Mol, B. W. J. & Gates, S., 1 Oct 2018, In : BJOG: An International Journal of Obstetrics and Gynaecology. 125, 11, p. 1406-1413 8 p.

Research output: Contribution to journalArticle

Cross-sectional association of seafood consumption, polyunsaturated fatty acids and depressive symptoms in two Torres Strait communities

Berger, M., Taylor, S., Harriss, L., Campbell, S., Thompson, F., Jones, S., Makrides, M., Gibson, R., Paul Amminger, G., Sarnyai, Z. & McDermott, R., 1 Jan 2018, (Accepted/In press) In : Nutritional Neuroscience.

Research output: Contribution to journalArticle

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Helbig, K. L., Lauerer, R. J., Bahr, J. C., Souza, I. A., Myers, C. T., Uysal, B., Schwarz, N., Gandini, M. A., Huang, S., Keren, B., Mignot, C., Afenjar, A., Billette de Villemeur, T., Héron, D., Nava, C., Valence, S., Buratti, J., Fagerberg, C. R., Soerensen, K. P., Kibaek, M. & 31 othersKamsteeg, E-J., Koolen, D. A., Gunning, B., Schelhaas, H. J., Kruer, M. C., Fox, J., Bakhtiari, S., Jarrar, R., Padilla-Lopez, S., Lindstrom, K., Jin, S. C., Zeng, X., Bilguvar, K., Papavasileiou, A., Xin, Q., Zhu, C., Boysen, K., Vairo, F., Lanpher, B. C., Klee, E. W., Tillema, J-M., Payne, E. T., Cousin, M. A., Kruisselbrink, T. M., Wick, M. J., Baker, J., Haan, E., Smith, N., Corbett, M. A., Gecz, J. & Deciphering Developmental Disorders Study, 1 Nov 2018, In : American Journal of Human Genetics. 103, 5, p. 666-678 13 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)

Diet and cardiometabolic side effects in children treated with second-generation antipsychotics

Barker, M. K., Sable, C. M., Montgomery, S. E., Chow, L., Green, T., Panagiotopoulos, C. & Devlin, A. M., 1 Feb 2018, In : Clinical Nutrition ESPEN. 23, p. 205-211 7 p.

Research output: Contribution to journalArticle