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2020

Developing a multivariable prediction model for functional outcome after reperfusion therapy for acute ischaemic stroke: study protocol for the Targeting Optimal Thrombolysis Outcomes (TOTO) multicentre cohort study

Holliday, E., Lillicrap, T., Kleinig, T., Choi, P. M. C., Maguire, J., Bivard, A., Lincz, L. F., Hamilton-Bruce, M. A., Rao, S. R., Snel, M. F., Trim, P. J., Lin, L., Parsons, M. W., Worrall, B. B., Koblar, S., Attia, J. & Levi, C., 6 Apr 2020, In : BMJ Open. 10, 4, p. e038180

Research output: Contribution to journalArticle

Developing a multivariable prediction model for functional outcome after reperfusion therapy for acute ischaemic stroke: study protocol for the Targeting Optimal Thrombolysis Outcomes (TOTO) multicentre cohort study

Holliday, E., Lillicrap, T., Kleinig, T., Choi, P. M. C., Maguire, J., Bivard, A., Lincz, L. F., Hamilton-Bruce, M. A., Rao, S. R., Snel, M. F., Trim, P. J., Lin, L., Parsons, M. W., Worrall, B. B., Koblar, S., Attia, J. & Levi, C., 6 Apr 2020, In : BMJ Open. 10, 4, 038180.

Research output: Contribution to journalArticle

Differential gene responses 3 days following infarction in the fetal and adolescent sheep heart

Lock, M. C., Tellam, R. L., Darby, J. R. T., Soo, J. Y., Brooks, D. A., Macgowan, C. K., Selvanayagam, J., Porrello, E. R., Seed, M., Keller-Wood, M. & Morrison, J. L., 1 Jan 2020, In : Physiological Genomics. 52, 3, p. 143-159 17 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Direct assessment of mental health and metabolic syndrome amongst Indonesian adolescents: a study design for a mixed-methods study sampled from school and community settings

Azzopardi, P. S., Willenberg, L., Wulan, N., Devaera, Y., Medise, B., Riyanti, A., Ansariadi, A., Sawyer, S., Wiguna, T., Kaligis, F., Fisher, J., Tran, T., Agius, P. A., Borschmann, R., Brown, A., Cini, K., Clifford, S., Kennedy, E. C., Pedrana, A., Pham, M. D. & 5 others, Wake, M., Zimmet, P., Durrant, K., Wiweko, B. & Luchters, S., 16 Mar 2020, In : Global Health Action. 13, 1, 1732665.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Distribution of Parkinson's disease associated RAB39B in mouse brain tissue

Gao, Y., Wilson, G. R., Stephenson, S. E. M., Oulad-Abdelghani, M., Charlet-Berguerand, N., Bozaoglu, K., McLean, C. A., Thomas, P., Finkelstein, D. I. & Lockhart, P. J., 30 Mar 2020, In : Molecular brain. 13, 1, 52.

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)

Does health information technology improve acknowledgement of radiology results for discharged Emergency Department patients? A before and after study

Li, J., Paoloni, R., Li, L., Callen, J., Westbrook, J. I., Runciman, W. B. & Georgiou, A., 3 Jun 2020, In : BMC Medical Informatics and Decision Making. 20, 1, 100.

Research output: Contribution to journalArticle

Open Access

Do Older Adults with Low Muscle Mass or Strength, in the Presence of Obesity, Have an Increased Risk of Joint Replacement Over 13 Years?

Balogun, S. A., Graves, S. E., Lorimer, M., Cicuttini, F., Scott, D., Jones, G. & Aitken, D., 1 Jul 2020, In : Calcified Tissue International. 107, 1, p. 10-17 8 p.

Research output: Contribution to journalArticle

Drosophila as a model to understand autophagy deregulation in human disorders

Denton, D., O'Keefe, L. & Kumar, S., 1 Jan 2020, Progress in Molecular Biology and Translational Science. Elsevier B.V., (Progress in Molecular Biology and Translational Science).

Research output: Chapter in Book/Report/Conference proceedingChapter

Early markers of cystic fibrosis structural lung disease: Follow-up of the ACFBAL cohort

Australasian Cystic Fibrosis Bronchoalveolar Lavage (ACFBAL) and Follow-up of the ACFBAL (CF-FAB), 1 Apr 2020, In : European Respiratory Journal. 55, 4, 1901694.

Research output: Contribution to journalArticle

1 Citation (Scopus)

EcDBS1R6: A novel cationic antimicrobial peptide derived from a signal peptide sequence

Porto, W. F., Irazazabal, L. N., Humblot, V., Haney, E. F., Ribeiro, S. M., Hancock, R. E. W., Ladram, A. & Franco, O. L., Sep 2020, In : Biochimica et Biophysica Acta - General Subjects. 1864, 9, 129633.

Research output: Contribution to journalArticle

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 Alirocumab on Lipoprotein(a) and Cardiovascular Risk After Acute Coronary Syndrome

ODYSSEY OUTCOMES Committees and Investigators, 21 Jan 2020, In : Journal of the American College of Cardiology. 75, 2, p. 133-144 12 p.

Research output: Contribution to journalArticle

15 Citations (Scopus)

Effect of Balloon Aortic Valvuloplasty on Mortality in Patients With Severe Aortic Stenosis Prior to Conservative Treatment and Surgical or Transcatheter Aortic Valve Replacement

Jones, D. R., Chew, D., Horsfall, M. J., Chuang, A. M., Sinhal, A. R., Joseph, M. X., Baker, R. A., Bennetts, J. S., Selvanayagam, J. & Lehman, S. J., 1 May 2020, In : Heart Lung and Circulation. 29, 5, p. 719-728 10 p.

Research output: Contribution to journalArticle

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

Effects of aging on the motor, cognitive and affective behaviors, neuroimmune responses and hippocampal gene expression

Singhal, G., Morgan, J., Jawahar, M. C., Corrigan, F., Jaehne, E. J., Toben, C., Breen, J., Pederson, S. M., Manavis, J., Hannan, A. J. & Baune, B. T., 6 Apr 2020, In : Behavioural Brain Research. 383, 112501.

Research output: Contribution to journalArticle

Effects of the ACTIVity And TEchnology (ACTIVATE) intervention on health-related quality of life and fatigue outcomes in breast cancer survivors

Vallance, J. K., Nguyen, N. H., Moore, M. M., Reeves, M. M., Rosenberg, D. E., Boyle, T., Milton, S., Friedenreich, C. M., English, D. R. & Lynch, B. M., 1 Jan 2020, In : Psycho-Oncology. 29, 1, p. 204-211 8 p.

Research output: Contribution to journalArticle

Efficacy of combined CDK9/BET inhibition in preclinical models of MLL-rearranged acute leukemia

McCalmont, H., Li, K. L., Jones, L., Toubia, J., Bray, S., Casolari, D. A., Mayoh, C., Samaraweera, S. E., Lewis, I. D., Prinjha, R. K., Smithers, N., Wang, S., Lock, R. B. & D'Andrea, R. J., 28 Jan 2020, In : Blood Advances. 4, 2, p. 296-300 5 p.

Research output: Contribution to journalArticle

Elevated levels of tumour apolipoprotein D independently predict poor outcome in breast cancer patients

Jankovic-Karasoulos, T., Bianco-Miotto, T., Butler, M. S., Butler, L. M., McNeil, C. M., O’Toole, S. A., Millar, E. K. A., Sakko, A. J., Ruiz, A. I., Birrell, S. N., Sutherland, R. L., Hickey, T. E., Tilley, W. D. & Ricciardelli, C., 1 Jun 2020, In : Histopathology. 76, 7, p. 976-987 12 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

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

Enasidenib drives human erythroid differentiation independently of isocitrate dehydrogenase 2

Dutta, R., Zhang, T. Y., Köhnke, T., Thomas, D., Linde, M., Gars, E., Stafford, M., Kaur, S., Nakauchi, Y., Yin, R., Azizi, A., Narla, A. & Majeti, R., 1 Apr 2020, In : Journal of Clinical Investigation. 130, 4, p. 1843-1849 7 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Epicardial and subcutaneous adipose tissue in Indigenous and non-Indigenous individuals: Implications for cardiometabolic diseases

Sun, D. F., Kangaharan, N., Costello, B., Nicholls, S. J., Emdin, C. A., Tse, R., Gallagher, C., Kaur, A., Roberts-Thomson, K. C., Mahajan, R., Lau, D. H., Sanders, P. & Wong, C. X., 1 Jan 2020, In : Obesity Research and Clinical Practice. 14, 1, p. 99-102 4 p.

Research output: Contribution to journalLetter

European LeukemiaNet 2020 recommendations for treating chronic myeloid leukemia

Hochhaus, A., Baccarani, M., Silver, R. T., Schiffer, C., Apperley, J. F., Cervantes, F., Clark, R. E., Cortes, J. E., Deininger, M. W., Guilhot, F., Hjorth-Hansen, H., Hughes, T., Janssen, J. J. W. M., Kantarjian, H. M., Kim, D. W., Larson, R. A., Lipton, J. H., Mahon, F. X., Mayer, J., Nicolini, F. & 14 others, Niederwieser, D., Pane, F., Radich, J. P., Rea, D., Richter, J., Rosti, G., Rousselot, P., Saglio, G., Saußele, S., Soverini, S., Steegmann, J. L., Turkina, A., Zaritskey, A. & Hehlmann, R., 1 Apr 2020, In : Leukemia. 34, 4, p. 966-984 19 p.

Research output: Contribution to journalReview article

12 Citations (Scopus)

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

Exploiting differential Wnt target gene expression to generate a molecular biomarker for colorectal cancer stratification

Kleeman, S. O., Koelzer, V. H., Jones, H. J. S., Vazquez, E. G., Davis, H., East, J. E., Arnold, R., Koppens, M. A. J., Blake, A., Domingo, E., Cunningham, C., Beggs, A. D., Pestinger, V., Loughrey, M. B., Wang, L. M., Lannagan, T. R. M., Woods, S. L., Worthley, D., Consortium, S., Tomlinson, I. & 3 others, Dunne, P. D., Maughan, T. & Leedham, S. J., 1 Jun 2020, In : Gut. 69, 6, p. 1092-1103 12 p.

Research output: Contribution to journalArticle

Extensive rewiring of the EGFR network in colorectal cancer cells expressing transforming levels of KRASG13D

Kennedy, S. A., Jarboui, M-A., Srihari, S., Raso, C., Bryan, K., Dernayka, L., Charitou, T., Bernal-Llinares, M., Herrera-Montavez, C., Krstic, A., Matallanas, D., Kotlyar, M., Jurisica, I., Curak, J., Wong, V., Stagljar, I., LeBihan, T., Imrie, L., Pillai, P., Lynn, M. A. & 21 others, Fasterius, E., Al-Khalili Szigyarto, C., Breen, J., Kiel, C., Serrano, L., Rauch, N., Rukhlenko, O., Kholodenko, B. N., Iglesias-Martinez, L. F., Ryan, C. J., Pilkington, R., Cammareri, P., Sansom, O., Shave, S., Auer, M., Horn, N., Klose, F., Ueffing, M., Boldt, K., Lynn, D. J. & Kolch, W., 24 Jan 2020, In : Nature communications. 11, 1, p. 499

Research output: Contribution to journalArticle

Extensive rewiring of the EGFR network in colorectal cancer cells expressing transforming levels of KRASG13D

Kennedy, S. A., Jarboui, M. A., Srihari, S., Raso, C., Bryan, K., Dernayka, L., Charitou, T., Bernal-Llinares, M., Herrera-Montavez, C., Krstic, A., Matallanas, D., Kotlyar, M., Jurisica, I., Curak, J., Wong, V., Stagljar, I., LeBihan, T., Imrie, L., Pillai, P., Lynn, M. A. & 21 others, Fasterius, E., Al-Khalili Szigyarto, C., Breen, J., Kiel, C., Serrano, L., Rauch, N., Rukhlenko, O., Kholodenko, B. N., Iglesias-Martinez, L. F., Ryan, C. J., Pilkington, R., Cammareri, P., Sansom, O., Shave, S., Auer, M., Horn, N., Klose, F., Ueffing, M., Boldt, K., Lynn, D. J. & Kolch, W., 1 Dec 2020, In : Nature Communications. 11, 1, 499.

Research output: Contribution to journalArticle

2 Citations (Scopus)

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

Feasibility of ventricular volumetry by cardiovascular MRI to assess cardiac function in the fetal sheep

Cho, S. K. S., Darby, J. R. T., Saini, B. S., Lock, M. C., Holman, S. L., Lim, J. M., Perumal, S. R., Macgowan, C. K., Morrison, J. L. & Seed, M., 7 May 2020, In : The Journal of Physiology.

Research output: Contribution to journalArticle

Fetal cardiovascular response to acute hypoxia during maternal anesthesia

Varcoe, T. J., Darby, J. R. T., Holman, S. L., Bradshaw, E. L., Kuchel, T., Vaughan, L., Seed, M., Wiese, M. D. & Morrison, J. L., 1 Feb 2020, In : Physiological Reports. 8, 3, e14365.

Research output: Contribution to journalArticle

Fetal cardiovascular response to acute hypoxia during maternal anesthesia

Varcoe, T. J., Darby, J. R. T., Holman, S. L., Bradshaw, E. L., Kuchel, T., Vaughan, L., Seed, M., Wiese, M. D. & Morrison, J. L., Feb 2020, In : Physiological Reports. 8, 3, p. e14365

Research output: Contribution to journalArticle

First catheter-based high-density endocardial 3D electroanatomical mapping of the right atrium in standing horses

Hesselkilde, E., Linz, D., Saljic, A., Carstensen, H., Kutieleh, R., Jespersen, T., Sanders, P. & Buhl, R., 1 Jan 2020, In : Equine Veterinary Journal.

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

Fixation Method for Hip Arthroplasty Stem Following Hip Fracture: A Population-Level Cost-Effectiveness Analysis

Blythe, R., O'Gorman, P. M., Crawford, R. W., Feenan, R., Hatton, A., Whitehouse, S. L. & Graves, N., Jun 2020, In : Journal of Arthroplasty. 35, 6, p. 1614-1621 8 p.

Research output: Contribution to journalArticle

Functional Atrial Endocardial–Epicardial Dissociation in Patients With Structural Heart Disease Undergoing Cardiac Surgery

Parameswaran, R., Teuwen, C. P., Watts, T., Nalliah, C. J., Royse, A., Goldblatt, J., Larobina, M., Sanders, P., Kistler, P., Orozco-Duque, A., Lee, G. & Kalman, J. M., 1 Jan 2020, In : JACC: Clinical Electrophysiology. 6, 1, p. 34-44 11 p.

Research output: Contribution to journalArticle

Functional screening of GATOR1 complex variants reveals a role for mTORC1 deregulation in FCD and focal epilepsy

Dawson, R. E., Nieto Guil, A. F., Robertson, L., Piltz, S., Hughes, J. N. & Thomas, P., 1 Feb 2020, In : Neurobiology of Disease. 134, 104640.

Research output: Contribution to journalArticle

1 Citation (Scopus)

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)

Genomics of therapy-related myeloid neoplasms

Kuzmanovic, T., Patel, B. J., Sanikommu, S. R., Nagata, Y., Awada, H., Kerr, C. M., Przychodzen, B. P., Jha, B. K., Hiwase, D., Singhal, D., Advani, A. S., Nazha, A., Gerds, A. T., Carraway, H. E., Sekeres, M. A., Mukherjee, S., Maciejewski, J. P. & Radivoyevitch, T., 1 Mar 2020, In : Haematologica. 105, 3, p. E98-E101

Research output: Contribution to journalLetter

1 Citation (Scopus)

GLIPR1 expression is reduced in multiple myeloma but is not a tumour suppressor in mice

Friend, N., Noll, J., Opperman, K. S., Clark, K. C., Mrozik, K., Vandyke, K., Hewett, D. & Zannettino, A., 1 Jan 2020, In : PLoS ONE. 15, 1, e0228408.

Research output: Contribution to journalArticle