Publications

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Selected publications below, for complete list including publications dating pre-2010 please see Distinguished Professor Griffiths’ ePrints by clicking here.

Sex differences in muscle protein expression and DNA methylation in response to exercise training

Landen, Shanie, Jacques, Macsue, Hiam, Danielle, Alvarez-Romero, Javier, Schittenhelm, Ralf B., Shah, Anup D., Huang, Cheng, Steele, Joel R., Harvey, Nicholas R., Haupt, Larisa M., et al. (2023) Sex differences in muscle protein expression and DNA methylation in response to exercise training. Biology of Sex Differences, 14 (1), pp.Article number: 56.
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Exonic mutations in cell–cell adhesion may contribute to CADASIL-related CSVD pathology

Dunn, Paul J., Lea, Rodney A., Maksemous, Neven, Smith, Robert A., Sutherland, Heidi G., Haupt, Larisa M., Griffiths, Lyn R. (2023) Exonic mutations in cell–cell adhesion may contribute to CADASIL-related CSVD pathology. Human Genetics, 142 (9), pp.1361-1373.
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Diagnosing sepsis in the ICU: Comparison of a gene expression signature to pre-existing biomarkers

Denny, Kerina J., Lea, Rodney A., Lindell-Innes, Ross, Haupt, Larisa M., Heffernan, Aaron J., Harvey, Nicholas R., Hughes, Oliver, Cao, Van T., Stuart, Janine, Paterson, David L., et al. (2023) Diagnosing sepsis in the ICU: Comparison of a gene expression signature to pre-existing biomarkers. Journal of Critical Care, 76, pp.Article number: 154286.
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GSTM1 and GSTT1 polymorphisms associated with pain in a chemotherapy-induced peripheral neuropathy cohort

Dunn, Paul J, Griffiths, Lyn R, Yates, Patsy, Haupt, Larisa M, Alexander, Kim E (2023) GSTM1 and GSTT1 polymorphisms associated with pain in a chemotherapy-induced peripheral neuropathy cohort. Journal of Cancer Research and Clinical Oncology, 149 (10), pp.7405-7412.
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SDC4-rs1981429 and ATM-rs228590 may provide early biomarkers of breast cancer risk

Vuorinen, Sofia I., Okolicsanyi, Rachel K., Gyimesi, Martina, Meyjes-Brown, Jacob, Saini, Deepa, Pham, Son H., Griffiths, Lyn R., Haupt, Larisa M. (2023) SDC4-rs1981429 and ATM-rs228590 may provide early biomarkers of breast cancer risk. Journal of Cancer Research and Clinical Oncology, 149 (8), pp.4563-4578.
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Exercise is associated with younger methylome and transcriptome profiles in human skeletal muscle

Voisin, Sarah, Seale, Kirsten, Jacques, Macsue, Landen, Shanie, Harvey, Nicholas R., Haupt, Larisa M., Griffiths, Lyn R., Ashton, Kevin J., Coffey, Vernon G., Thompson, Jamie Lee M., et al. (2023) Exercise is associated with younger methylome and transcriptome profiles in human skeletal muscle. Aging Cell, pp.Article number: e13859.
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Syndecan-4 regulates the HER2-positive breast cancer cell proliferation cells via CK19/AKT signalling

Pham, Son H., Vuorinen, Sofia I., Arif, KM Taufiqul, Griffiths, Lyn R., Okolicsanyi, Rachel K., Haupt, Larisa M. (2023) Syndecan-4 regulates the HER2-positive breast cancer cell proliferation cells via CK19/AKT signalling. Biochimie, 207, pp.49-61.
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Data on 2D culture characterisation of potential markers in human HER2-positive breast cancer cell lines

Pham, Son H., Griffiths, Lyn R., Okolicsanyi, Rachel K., Haupt, Larisa M. (2023) Data on 2D culture characterisation of potential markers in human HER2-positive breast cancer cell lines. Data in Brief, 46, pp.Article number: 108880.
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MicroRNA-Target Identification: A Combinatorial In Silico Approach

Arif, K. M.Taufiqul, Okolicsanyi, Rachel K., Haupt, Larisa M., Griffiths, Lyn R. (2023) MicroRNA-Target Identification: A Combinatorial In Silico Approach. In Dalmay, Tamas (Ed.), MicroRNA Detection and Target Identification: Methods and Protocols.[ 2nd ed.], Methods in Molecular Biology, pp.215-230.
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Global reported impacts of COVID-19 on lymphoma patients and the emerging clinical management approaches in response to the ongoing pandemic

Elliott, Esther K., Hensen, Robert, Haupt, Larisa M., Griffiths, Lyn R. (2023) Global reported impacts of COVID-19 on lymphoma patients and the emerging clinical management approaches in response to the ongoing pandemic. European Journal of Haematology, 110 (5), pp.457-469.
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Evaluation of an ancestry prediction strategy for historical military remains using a World War II-era sample and pedigrees with family-level admixture

Ghaiyed, A. P., Sutherland, H., Lea, R. A., Gardam, T., Chaseling, J., James, K., Bernie, A., Haupt, L. M., Christie, J., Griffiths, L. R., et al. (2023) Evaluation of an ancestry prediction strategy for historical military remains using a World War II-era sample and pedigrees with family-level admixture. Australian Journal of Forensic Sciences, 55 (4), pp.456-473.
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Syndecan-1 and -4 influence Wnt signaling and cell migration in human breast cancers

Pham, Son H., Pratt, Kaylah, Okolicsanyi, Rachel K., Oikari, Lotta E., Yu, Chieh, Peall, Ian W., Arif, KM Taufiqul, Chalmers, Te Arn, Gyimesi, Martina, Griffiths, Lyn R., et al. (2022) Syndecan-1 and -4 influence Wnt signaling and cell migration in human breast cancers. Biochimie, 198, pp.60-75.
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Association of polymorphisms in ARRB2 and clinical response to methadone for pain in advanced cancer

Ozberk, Deniz, Haywood, Alison, Sutherland, Heidi G., Yu, Chieh, Albury, Cassie L., Zunk, Mathew, George, Rani, Good, Phillip, Griffiths, Lyn R., Hardy, Janet, et al. (2022) Association of polymorphisms in ARRB2 and clinical response to methadone for pain in advanced cancer. Pharmacogenomics, 23 (5), pp.281-289.
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Discriminating head trauma outcomes using machine learning and genomics

Ibrahim, Omar, Sutherland, Heidi G., Lea, Rodney A., Nasrallah, Fatima, Maksemous, Neven, Smith, Robert A., Haupt, Larisa M., Griffiths, Lyn R. (2022) Discriminating head trauma outcomes using machine learning and genomics. Journal of Molecular Medicine, 100 (2), pp.303-312.
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Pedigree derived mutation rate across the entire mitochondrial genome of the Norfolk Island population

Connell, J. R., Benton, M. C., Lea, R. A., Sutherland, H. G., Chaseling, J., Haupt, L. M., Wright, K. M., Griffiths, L. R. (2022) Pedigree derived mutation rate across the entire mitochondrial genome of the Norfolk Island population. Scientific Reports, 12, pp.Article number: 6827.
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Association of KCNJ6 rs2070995 and methadone response for pain management in advanced cancer at end-of-life

Ozberk, Deniz, Haywood, Alison, Sutherland, Heidi G., Yu, Chieh, Albury, Cassie L., Zunk, Mathew, George, Rani, Good, Phillip, Griffiths, Lyn R., Hardy, Janet, et al. (2022) Association of KCNJ6 rs2070995 and methadone response for pain management in advanced cancer at end-of-life. Scientific Reports, 12, pp.Article number: 17422.
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A saturated map of common genetic variants associated with human height

Yengo, Loïc, Vedantam, Sailaja, Marouli, Eirini, Sidorenko, Julia, Bartell, Eric, Sakaue, Saori, Graff, Marielisa, Eliasen, Anders U., Jiang, Yunxuan, Raghavan, Sridharan, et al. (2022) A saturated map of common genetic variants associated with human height. Nature, 610 (7933), pp.704-712.
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Evaluating the suitability of current mitochondrial DNA interpretation guidelines for multigenerational whole mitochondrial genome comparisons

Connell, Jasmine R., Benton, Miles C., Lea, Rodney A., Sutherland, Heidi G., Haupt, Larisa M., Wright, Kirsty M., Griffiths, Lyn R. (2022) Evaluating the suitability of current mitochondrial DNA interpretation guidelines for multigenerational whole mitochondrial genome comparisons. Journal of Forensic Sciences, 67 (5), pp.1766-1775.
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Investigation of Mitochondrial Related Variants in a Cerebral Small Vessel Disease Cohort

Dunn, P. J., Harvey, N. R., Maksemous, N., Smith, R. A., Sutherland, H. G., Haupt, L. M., Griffiths, L. R. (2022) Investigation of Mitochondrial Related Variants in a Cerebral Small Vessel Disease Cohort. Molecular Neurobiology, 59 (9), pp.5366-5378.
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Investigation of CACNA1I Cav3.3 Dysfunction in Hemiplegic Migraine

Maksemous, Neven, Blayney, Claire D, Sutherland, Heidi, Smith, Robert, Lea, Rodney, Tran, Kim Ngan, Abdelrahman, Omar, McArthur, Jeffrey R., Haupt, Larisa, Cader, M. Zameel, et al. (2022) Investigation of CACNA1I Cav3.3 Dysfunction in Hemiplegic Migraine. Frontiers in Molecular Neuroscience, 15, pp.Article number: 892820.
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Antroquinonol administration in animal preclinical studies for Alzheimer's disease (AD): A new avenue for modifying progression of AD pathophysiology

Fernandez, Francesca, Aust, Caitlin, Lye, Sarah, Griffiths, Lyn (2022) Antroquinonol administration in animal preclinical studies for Alzheimer's disease (AD): A new avenue for modifying progression of AD pathophysiology. Brain, Behavior, and Immunity - Health, 21, pp.Article number: 100435.
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Investigating a Genetic Link Between Alzheimer’s Disease and CADASIL-Related Cerebral Small Vessel Disease

Dunn, Paul J., Lea, Rodney A., Maksemous, Neven, Smith, Robert A., Sutherland, Heidi G., Haupt, Larisa M., Griffiths, Lyn R. (2022) Investigating a Genetic Link Between Alzheimer’s Disease and CADASIL-Related Cerebral Small Vessel Disease. Molecular Neurobiology, 59 (12), pp.7293-7302.
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Development of an accurate genomic ancestry prediction strategy to enable the accounting of Australian and Japanese historical military remains

Ghaiyed, A. P., Chaseling, J., Lea, R. A., Bernie, A., Haupt, L. M., Griffiths, L. R., Wright, K. M. (2022) Development of an accurate genomic ancestry prediction strategy to enable the accounting of Australian and Japanese historical military remains. Australian Journal of Forensic Sciences, 54 (3), pp.416-436.
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Genetic Association Analysis Implicates Six MicroRNA-Related SNPs With Increased Risk of Breast Cancer in Australian Caucasian Women

Arif, K. M.Taufiqul, Bradshaw, Gabrielle, Nguyen, Thanh T.N., Smith, Robert A., Okolicsanyi, Rachel K., Youl, Philippa H., Haupt, Larisa M., Griffiths, Lyn R. (2021) Genetic Association Analysis Implicates Six MicroRNA-Related SNPs With Increased Risk of Breast Cancer in Australian Caucasian Women. Clinical Breast Cancer, 21 (6), pp.e694-e703.
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Skeletal muscle methylome and transcriptome integration reveals profound sex differences related to muscle function and substrate metabolism

Landen, Shanie, Jacques, Macsue, Hiam, Danielle, Alvarez-Romero, Javier, Harvey, Nicholas R., Haupt, Larisa M., Griffiths, Lyn R., Ashton, Kevin J., Lamon, Séverine, Voisin, Sarah, et al. (2021) Skeletal muscle methylome and transcriptome integration reveals profound sex differences related to muscle function and substrate metabolism. Clinical Epigenetics, 13 (1), pp.Article number: 202.
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Genome wide association study of response to interval and continuous exercise training: the Predict-HIIT study

Williams, Camilla J., Li, Zhixiu, Harvey, Nicholas, Lea, Rodney A., Gurd, Brendon J., Bonafiglia, Jacob T., Papadimitriou, Ioannis, Jacques, Macsue, Croci, Ilaria, Stensvold, Dorthe, et al. (2021) Genome wide association study of response to interval and continuous exercise training: the Predict-HIIT study. Journal of Biomedical Science, 28, pp.Article number: 37.
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Epigenetic Regulation of miR-92a and TET2 and Their Association in Non-Hodgkin Lymphoma

Elliott, Esther K., Hopkins, Lloyd N., Hensen, Robert, Sutherland, Heidi G., Haupt, Larisa M., Griffiths, Lyn R. (2021) Epigenetic Regulation of miR-92a and TET2 and Their Association in Non-Hodgkin Lymphoma. Frontiers in Genetics, 12, pp.Article number: 768913.
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Evaluation of an ancestry prediction strategy for historical military remains using a World War II-era sample and pedigrees with family-level admixture

Ghaiyed, A. P., Sutherland, H., Lea, R. A., Gardam, T., Chaseling, J., James, K., Bernie, A., Haupt, L. M., Christie, J., Griffiths, L. R., et al. (2021) Evaluation of an ancestry prediction strategy for historical military remains using a World War II-era sample and pedigrees with family-level admixture. Australian Journal of Forensic Sciences.
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SLC17A3 rs9379800 and Ischemic Stroke Susceptibility at the Northern Region of Malaysia

Ching, Shu Chai, Wen, Lim Jing, Ismail, Nor Ismaliza Mohd, Looi, Irene, Kooi, Cheah Wee, Peng, Long Soo, Mui, Lee Soon, Tamibmaniam, Jayashamani, Muninathan, Prema, Hooi, Ong Beng, et al. (2021) SLC17A3 rs9379800 and Ischemic Stroke Susceptibility at the Northern Region of Malaysia. Journal of Stroke and Cerebrovascular Diseases, 30 (10), pp.Article number: 105908.
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Novel compound heterozygous missense mutations in GDAP1 cause Charcot–Marie–Tooth type 4A

Xue, Huiqin, Maksemous, Neven, Sidhom, David, Ma, Lan, Chen, Shaohui, Wu, Jianrui, Feng, Yu, Haupt, Larisa M., Griffiths, Lyn R. (2021) Novel compound heterozygous missense mutations in GDAP1 cause Charcot–Marie–Tooth type 4A. Journal of Genetics, 100 (2), pp.Article number: 58.
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Multi-phenotype genome-wide association studies of the Norfolk Island isolate implicate pleiotropic loci involved in chronic kidney disease

Tran, Ngan K., Lea, Rodney A., Holland, Samuel, Nguyen, Quan, Raghubar, Arti M., Sutherland, Heidi G., Benton, Miles C., Haupt, Larisa M., Blackburn, Nicholas B., Curran, Joanne E., et al. (2021) Multi-phenotype genome-wide association studies of the Norfolk Island isolate implicate pleiotropic loci involved in chronic kidney disease. Scientific Reports, 11 (1), pp.Article number: 19425.
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A combinatorial in silico approach for microRNA-target identification: Order out of chaos

Arif, KM Taufiqul, Okolicsanyi, Rachel K., Haupt, Larisa M., Griffiths, Lyn R. (2021) A combinatorial in silico approach for microRNA-target identification: Order out of chaos. Biochimie, 187, pp.121-130.
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Meta-analysis of genome-wide DNA methylation and integrative omics of age in human skeletal muscle

Voisin, Sarah, Jacques, Macsue, Landen, Shanie, Harvey, Nicholas R., Haupt, Larisa M., Griffiths, Lyn R., Gancheva, Sofiya, Ouni, Meriem, Jähnert, Markus, Ashton, Kevin J., et al. (2021) Meta-analysis of genome-wide DNA methylation and integrative omics of age in human skeletal muscle. Journal of Cachexia, Sarcopenia and Muscle, 12 (4), pp.1064-1078.
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Cerebrovascular Function in Hormonal Migraine: An Exploratory Study

Dzator, Jemima S.A., Howe, Peter R.C., Griffiths, Lyn R., Coupland, Kirsten G., Wong, Rachel H.X. (2021) Cerebrovascular Function in Hormonal Migraine: An Exploratory Study. Frontiers in Neurology, 12, pp.Article number: 694980.
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Using Monozygotic Twins to Dissect Common Genes in Posttraumatic Stress Disorder and Migraine

Bainomugisa, Charlotte K., Sutherland, Heidi G., Parker, Richard, Mcrae, Allan F., Haupt, Larisa M., Griffiths, Lyn R., Heath, Andrew, Nelson, Elliot C., Wright, Margaret J., Hickie, Ian B., et al. (2021) Using Monozygotic Twins to Dissect Common Genes in Posttraumatic Stress Disorder and Migraine. Frontiers in Neuroscience, 15, pp.Article number: 678350.
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Techniques for RNA extraction from cells cultured in starPEG-heparin hydrogels

Jaeschke, Anna, Harvey, Nicholas R., Tsurkan, Mikhail, Werner, Carsten, Griffiths, Lyn R., Haupt, Larisa M., Bray, Laura J. (2021) Techniques for RNA extraction from cells cultured in starPEG-heparin hydrogels. Open Biology, 11 (6), pp.Article number: 200388.
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A genome-wide methylation study of body fat traits in the Norfolk Island isolate

Cao, Van T., Lea, Rodney A., Sutherland, Heidi G., Benton, Miles C., Pishva, Reza S., Haupt, Larisa M., Griffiths, Lyn R. (2021) A genome-wide methylation study of body fat traits in the Norfolk Island isolate. Nutrition, Metabolism and Cardiovascular Diseases, 31 (5), pp.1556-1563.
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The MinION as a cost-effective technology for diagnostic screening of the SCN1A gene in epilepsy patients

Ngo, Thi Tuyet Dieu, Lea, Rodney A., Maksemous, Neven, Eccles, David A., Smith, Robert A., Dunn, Paul J., Thao, Van Cao, Ha, Thi Minh Thi, Bùi, Chi Bao, Haupt, Larisa M., et al. (2021) The MinION as a cost-effective technology for diagnostic screening of the SCN1A gene in epilepsy patients. Epilepsy Research, 172, pp.Article number: 106593.
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Exploring the hereditary nature of migraine

Bron, Charlene, Sutherland, Heidi G., Griffiths, Lyn R. (2021) Exploring the hereditary nature of migraine. Neuropsychiatric Disease and Treatment, 17, pp.1183-1194.
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Three-Dimensional Human Neural Stem Cell Models to Mimic Heparan Sulfate Proteoglycans and the Neural Niche

Peall, Ian W., Okolicsanyi, Rachel K., Griffiths, Lyn R., Haupt, Larisa M. (2021) Three-Dimensional Human Neural Stem Cell Models to Mimic Heparan Sulfate Proteoglycans and the Neural Niche. Seminars in Thrombosis and Hemostasis, 47 (3), pp.308-315.
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Mini review: genome and transcriptome editing using CRISPR-cas systems for haematological malignancy gene therapy

Elliott, Esther K., Haupt, Larisa M., Griffiths, Lyn R. (2021) Mini review: genome and transcriptome editing using CRISPR-cas systems for haematological malignancy gene therapy. Transgenic Research, 30 (2), pp.129-141.
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Exploring new avenues for modifying course of progression of Alzheimer's disease: The rise of natural medicine

Lye, Sarah, Aust, Caitlin E., Griffiths, Lyn R., Fernandez, Francesca (2021) Exploring new avenues for modifying course of progression of Alzheimer's disease: The rise of natural medicine. Journal of the Neurological Sciences, 422, pp.Article number: 117332.
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Genetic analysis of endometriosis and depression identifies shared loci and implicates causal links with gastric mucosa abnormality

Adewuyi, Emmanuel O., Mehta, Divya, Sapkota, Yadav, Auta, Asa, Yoshihara, Kosuke, Nyegaard, Mette, Griffiths, Lyn R., Montgomery, Grant W., Chasman, Daniel I., Nyholt, Dale R. (2021) Genetic analysis of endometriosis and depression identifies shared loci and implicates causal links with gastric mucosa abnormality. Human Genetics, 140 (3), pp.529–552.
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Long‐term consumption of anthocyanin‐rich fruit juice: impact on gut microbiota and antioxidant markers in lymphocytes of healthy males

Groh, Isabel Anna Maria, Riva, Alessandra, Braun, Dominik, Sutherland, Heidi G., Williams, Owen, Bakuradze, Tamara, Pahlke, Gudrun, Richling, Elke, Haupt, Larisa M., Griffiths, Lyn R., et al. (2021) Long‐term consumption of anthocyanin‐rich fruit juice: impact on gut microbiota and antioxidant markers in lymphocytes of healthy males. Antioxidants, 10 (1), pp.Article number: 27.
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Syndecan-1 facilitates the human mesenchymal stem cell osteo-adipogenic balance

Yu, Chieh, Peall, Ian W., Pham, Son H., Okolicsanyi, Rachel K., Griffiths, Lyn R., Haupt, Larisa M. (2020) Syndecan-1 facilitates the human mesenchymal stem cell osteo-adipogenic balance. International Journal of Molecular Sciences, 21 (11), pp.Article number: 3884.
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HSPGs glypican‐1 and glypican‐4 are human neuronal proteins characteristic of different neural phenotypes

Oikari, Lotta E., Yu, Chieh, Okolicsanyi, Rachel K., Avgan, Nesli, Peall, Ian W., Griffiths, Lyn R., Haupt, Larisa M. (2020) HSPGs glypican‐1 and glypican‐4 are human neuronal proteins characteristic of different neural phenotypes. Journal of Neuroscience Research, 98 (8), pp.1619-1645.
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Investigating diagnostic sequencing techniques for CADASIL diagnosis

Dunn, P. J., Maksemous, N., Sutherland, H. G., Haupt, L. M., Griffiths, L. R. (2020) Investigating diagnostic sequencing techniques for CADASIL diagnosis. Human Genomics, 14, pp.Article number: 2.
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Development of an accurate genomic ancestry prediction strategy to enable the accounting of Australian and Japanese historical military remains

Ghaiyed, A. P., Chaseling, J., Lea, R. A., Bernie, A., Haupt, L. M., Griffiths, L. R., Wright, K. M. (2020) Development of an accurate genomic ancestry prediction strategy to enable the accounting of Australian and Japanese historical military remains. Australian Journal of Forensic Sciences.
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Investigating the influence of mtDNA and nuclear encoded mitochondrial variants on high intensity interval training outcomes

Harvey, N. R., Voisin, S., Lea, R. A., Yan, X., Benton, M. C., Papadimitriou, I. D., Jacques, M., Haupt, L. M., Ashton, K. J., Eynon, N., et al. (2020) Investigating the influence of mtDNA and nuclear encoded mitochondrial variants on high intensity interval training outcomes. Scientific Reports, 10 (1), pp.Article number: 11089.
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Comprehensive Exonic Sequencing of Hemiplegic Migraine-Related Genes in a Cohort of Suspected Probands Identifies Known and Potential Pathogenic Variants

Sutherland, Heidi G., Maksemous, Neven, Albury, Cassie L., Ibrahim, Omar, Smith, Robert A., Lea, Rod A., Haupt, Larisa M., Jenkins, Bronwyn, Tsang, Benjamin, Griffiths, Lyn R. (2020) Comprehensive Exonic Sequencing of Hemiplegic Migraine-Related Genes in a Cohort of Suspected Probands Identifies Known and Potential Pathogenic Variants. Cells, 9 (11), pp.Article number: 2638.
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Regulatory mechanisms of epigenetic miRNA relationships in human cancer and potential as therapeutic targets

Taufiqul Arif, K. M., Elliot, Esther K., Haupt, Larisa M., Griffiths, Lyn R. (2020) Regulatory mechanisms of epigenetic miRNA relationships in human cancer and potential as therapeutic targets. Cancers, 12 (10), pp.Article number: 2922.
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Exploring neuronal vulnerability to head trauma using a whole exome approach

Ibrahim, Omar, Sutherland, Heidi G., Maksemous, Neven, Smith, Robert, Haupt, Larisa M., Griffiths, Lyn R. (2020) Exploring neuronal vulnerability to head trauma using a whole exome approach. Journal of Neurotrauma, 37 (17), pp.1870-1879.
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An epigenetic clock for human skeletal muscle

Voisin, Sarah, Harvey, Nicholas R., Haupt, Larisa M., Griffiths, Lyn R., Ashton, Kevin J., Coffey, Vernon G., Doering, Thomas M., Thompson, Jamie Lee M., Benedict, Christian, Cedernaes, Jonathan, et al. (2020) An epigenetic clock for human skeletal muscle. Journal of Cachexia, Sarcopenia and Muscle, 11 (4), pp.887-898.
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An investigation of genetic polymorphisms in heparan sulfate proteoglycan core proteins and key modification enzymes in an Australian Caucasian multiple sclerosis population

Okolicsanyi, Rachel K., Bluhm, Julia, Miller, Cassandra, Griffiths, Lyn R., Haupt, Larisa M. (2020) An investigation of genetic polymorphisms in heparan sulfate proteoglycan core proteins and key modification enzymes in an Australian Caucasian multiple sclerosis population. Human Genomics, 14, pp.Article number: 18.
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Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease

Bryois, Julien, Skene, Nathan G., Hansen, Thomas Folkmann, Kogelman, Lisette J.A., Watson, Hunna J., Liu, Zijing, Adan, Roger, Alfredsson, Lars, Ando, Tetsuya, Andreassen, Ole, et al. (2020) Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease. Nature Genetics, 52 (5), pp.482-493.
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Comprehensive exonic sequencing of known ataxia genes in episodic ataxia

Maksemous, Neven, Sutherland, Heidi G., Smith, Robert A., Haupt, Larisa M., Griffiths, Lyn R. (2020) Comprehensive exonic sequencing of known ataxia genes in episodic ataxia. Biomedicines, 8 (5), pp.Article number: 134.
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Tiered analysis of whole-exome sequencing for epilepsy diagnosis

Dunn, Paul J., Maher, Bridget H., Albury, Cassie L., Stuart, Shani, Sutherland, Heidi G., Maksemous, Neven, Benton, Miles C., Smith, Robert A., Haupt, Larisa M., Griffiths, Lyn R. (2020) Tiered analysis of whole-exome sequencing for epilepsy diagnosis. Molecular Genetics and Genomics, 295 (3), pp.751-763.
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Genetic variants associated with exercise performance in both moderately trained and highly trained individuals

Harvey, N. R., Voisin, Sarah, Dunn, Paul J., Sutherland, H., Yan, Xu, Jacques, Macsue, Papadimitriou, Ioannis D., Haseler, Luke J., Ashton, Kevin J., Haupt, L. M., et al. (2020) Genetic variants associated with exercise performance in both moderately trained and highly trained individuals. Molecular Genetics and Genomics, 295 (2), pp.515-523.
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Saliva as a comparable-quality source of DNA for Whole Exome Sequencing on Ion platforms

Abdelrahman, Omar, Sutherland, Heidi, Haupt, Larisa, Griffiths, Lyn (2020) Saliva as a comparable-quality source of DNA for Whole Exome Sequencing on Ion platforms. Genomics, 112 (2), pp.1437-1443.
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Shared molecular genetic mechanisms underlie endometriosis and migraine comorbidity

Adewuyi, Emmanuel Olorunleke, Sapkota, Yadav, Auta, Asa, Yoshihara, Kosuke, Nyegaard, Mette, Griffiths, Lyn, Montgomery, Grant W., Chasman, Daniel I., Nyholt, Dale, other, and (2020) Shared molecular genetic mechanisms underlie endometriosis and migraine comorbidity. Genes, 11 (3), pp.Article number: 268.
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Investigating diagnostic sequencing techniques for CADASIL diagnosis

Dunn, P. J., Maksemous, N., Sutherland, H. G., Haupt, L. M., Griffiths, L. R. (2020) Investigating diagnostic sequencing techniques for CADASIL diagnosis. Human Genomics, 14, pp.Article number: 2.
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Ion torrent high throughput mitochondrial genome sequencing (HTMGS)

Harvey, N. R., Albury, C.L., Stuart, S., Benton, M. C., Eccles, D. A., Sutherland, H. G., Allcock, R. J.N., Lea, R. A., Haupt, L. M., Griffiths, L. R. (2019) Ion torrent high throughput mitochondrial genome sequencing (HTMGS). PLoS One, 14 (11), pp.Article number: e0224847 1-13.
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Genome-wide allele-specific methylation is enriched at gene regulatory regions in a multi-generation pedigree from the Norfolk Island isolate

Benton, Miles C., Lea, Rodney A., MacArtney-Coxson, Donia, Sutherland, Heidi G., White, Nicole, Kennedy, Daniel, Mengersen, Kerry, Haupt, Larisa M., Griffiths, Lyn R. (2019) Genome-wide allele-specific methylation is enriched at gene regulatory regions in a multi-generation pedigree from the Norfolk Island isolate. Epigenetics and Chromatin, 12, pp.Article number: 60 1-10.
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Advances in genetics of migraine

Sutherland, Heidi G., Albury, Cassie L., Griffiths, Lyn R. (2019) Advances in genetics of migraine. Journal of Headache and Pain, 20, pp.Article number: 72.
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Single nucleotide polymorphisms in MIR143 contribute to protection against non-Hodgkin lymphoma (NHL) in Caucasian populations

Bradshaw, Gabrielle, Haupt, Larisa, Aquino, Eunise, Lea, Rodney, Sutherland, Heidi, Griffiths, Lyn (2019) Single nucleotide polymorphisms in MIR143 contribute to protection against non-Hodgkin lymphoma (NHL) in Caucasian populations. Genes, 10 (3), pp.Article number: 185 1-20.
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Targeted next generation sequencing identifies a genetic spectrum of DNA variants in patients with hemiplegic migraine

Maksemous, Neven, Smith, Robert, Sutherland, Heidi, Maher, Bridget, Abdelrahman, Omar, Nicholson, Garth A., Carpenter, Elisabeth, Lea, Rodney, Cader, Zameel M., Griffiths, Lyn (2019) Targeted next generation sequencing identifies a genetic spectrum of DNA variants in patients with hemiplegic migraine. Cephalalgia Reports, 2, pp.1-9.

Variant Call Format (VCF)-Diagnostic Annotation and Reporting Tool (VCF-DART) A Customizable Analysis Pipeline for Identification of Clinically Relevant Genetic Variants in Next-Generation Sequencing Data

Benton, Miles, Smith, Robert, Haupt, Larisa, Sutherland, Heidi, Dunn, Paul, Albury, Cassie, Maksemous, Neven, Lea, Rodney, Griffiths, Lyn (2019) Variant Call Format (VCF)-Diagnostic Annotation and Reporting Tool (VCF-DART) A Customizable Analysis Pipeline for Identification of Clinically Relevant Genetic Variants in Next-Generation Sequencing Data. Journal of Molecular Diagnostics, 21 (6), pp.951-960.
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Associations of autozygosity with a broad range of human phenotypes

Clark, David W, Okada, Yukinori, Moore, Kristjan H S, Mason, Dan, Pirastu, Nicola, Gandin, Ilaria, Mattsson, Hannele, Barnes, Catriona L K, Lin, Kuang, Zhao, Jing Hua, et al. (2019) Associations of autozygosity with a broad range of human phenotypes. Nature Communications, 10, pp.Article number: 4957.
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A causal role for TRESK loss of function in migraine mechanisms

Pettingill, Philippa, Weir, Greg A., Wei, Tina, Wu, Yukyee, Flower, Grace, Lalic, Tatjana, Handel, Adam, Duggal, Galbha, Chintawar, Satyan, Cheung, Jonathan, et al. (2019) A causal role for TRESK loss of function in migraine mechanisms. Brain, 142 (12), pp.3852-3867.
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Clinical and genetic spectrum of SCN2A-associated episodic ataxia

Schwarz, N., Bast, T., Gaily, E., Golla, G., Gorman, K. M., Griffiths, L. R., Hahn, A., Hukin, J., King, M., Korff, C., et al. (2019) Clinical and genetic spectrum of SCN2A-associated episodic ataxia. European Journal of Paediatric Neurology, 23 (3), pp.438-447.
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Meta-analysis of factor V, factor VII, factor XII, and factor XIII-A gene polymorphisms and ischemic stroke

Wei, Loo Keat, Griffiths, Lyn R., Kooi, Cheah Wee, Irene, Looi (2019) Meta-analysis of factor V, factor VII, factor XII, and factor XIII-A gene polymorphisms and ischemic stroke. Medicina (Lithuania), 55 (4), pp.Article number: 101.
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Coffee and chemoprevention – the genotype decides

Boettler, Ute, Haupt, Larisa M., Smith, Robert A., Bytof, Gerhard, Lantz, Ingo, Griffiths, Lyn R., Marko, Doris (2019) Coffee and chemoprevention – the genotype decides

Differential stability of variant OPN1LW gene transcripts in myopic patients

Mountford, Jessica K., Davies, Wayne I.L., Griffiths, Lyn R., Yazar, Seyhan, Mackey, David A., Hunt, David M. (2019) Differential stability of variant OPN1LW gene transcripts in myopic patients. Molecular Vision, 25, pp.183-193.
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Association of NOTCH3 gene polymorphisms with ischemic stroke and its subtypes : A meta-analysis

Wei, Loo Keat, Griffiths, Lyn R., Looi, Irene, Kooi, Cheah Wee (2019) Association of NOTCH3 gene polymorphisms with ischemic stroke and its subtypes : A meta-analysis. Medicina, 55 (7), pp.Article number: 351.
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Investigation of the CADM2 polymorphism rs17518584 in memory and executive functions measures in a cohort of young healthy individuals

Abdelrahman, Omar, Sutherland, Heidi, Avgan, Nesli, Spriggens, Lauren, Lea, Rodney, Haupt, Larisa, Shum, David, Griffiths, Lyn (2018) Investigation of the CADM2 polymorphism rs17518584 in memory and executive functions measures in a cohort of young healthy individuals. Neurobiology of Learning and Memory, 155, pp.330-336.
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An emerging role for epigenetic factors in relation to executive function

Abdelrahman, Omar, Sutherland, Heidi, Haupt, Larisa, Griffiths, Lyn (2018) An emerging role for epigenetic factors in relation to executive function. Briefings in Functional Genomics, 17 (3), pp.170-180.
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Heparan sulfate proteoglycans as drivers of neural progenitors derived from human mesenchymal stem cells

Okolicsanyi, Rachel, Oikari, Lotta Emilia, Yu, Chieh, Griffiths, Lyn, Haupt, Larisa (2018) Heparan sulfate proteoglycans as drivers of neural progenitors derived from human mesenchymal stem cells. Frontiers in Molecular Neuroscience, 11, pp.Article number: 134 1-16.
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Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case

Bradshaw, Gabrielle, Lualhati, Robbie, Albury, Cassie, Maksemous, Neven, Roos-Araujo, Deidre, Smith, Robert, Benton, Miles, Eccles, David, Lea, Rodney, Sutherland, Heidi, et al. (2018) Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case. Frontiers in Immunology, 9, pp.Article number: 420 1-9.
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Whole-exome sequencing implicates SCN2A in episodic ataxia, but multiple ion channel variants may contribute to phenotypic complexity

Maksemous, Neven, Smith, Robert, Sutherland, Heidi, Sampaio, Hugo, Griffiths, Lyn (2018) Whole-exome sequencing implicates SCN2A in episodic ataxia, but multiple ion channel variants may contribute to phenotypic complexity. International Journal of Molecular Sciences, 19 (10), pp.Article number: 3113 1-9.
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Current understanding of DNA methylation and age-related disease

Aquino, Eunise, Benton, Miles, Haupt, Larisa, Sutherland, Heidi, Griffiths, Lyn, Lea, Rodney (2018) Current understanding of DNA methylation and age-related disease. OBM Genetics, 2 (2), pp.Article number: 016 1-17.

Next generation sequencing methods for diagnosis of epilepsy syndromes

Dunn, Paul, Albury, Cassie, Maksemous, Neven, Benton, Miles, Sutherland, Heidi, Smith, Robert, Haupt, Larisa, Griffiths, Lyn (2018) Next generation sequencing methods for diagnosis of epilepsy syndromes. Frontiers in Genetics, 9, pp.Article number: 20 1-11.
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The NRP1 migraine risk variant shows evidence of association with menstrual migraine

Pollock, Charmaine, Sutherland, Heidi, Maher, Bridget, Lea, Rodney, Haupt, Larisa, Frith, Alison, MacGregor, E. Anne, Griffiths, Lyn (2018) The NRP1 migraine risk variant shows evidence of association with menstrual migraine. Journal of Headache and Pain, 19, pp.Article number: 31 1-7.
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Expression QTL analysis of glaucoma endophenotypes in the Norfolk Island isolate provides evidence that immune-related genes are associated with optic disc size

Lea RA, Fang Kho P, Benton MC, Eccles D, Haupt LM, Hewitt AW, Sherwin JC,Mackey DA, Griffiths LR. (2018) Expression QTL analysis of glaucoma endophenotypes in the Norfolk Island isolate provides evidence that immune-related genes are associated with optic disc size. J Hum Genet.

Investigation of polymorphisms in genes involved in estrogen metabolism in menstrual migraine

Sutherland, Heidi, Champion, Morgane, Plays, Amelie, Stuart, Shani, Haupt, Larisa, Frith, Alison, MacGregor, E. Anne, Griffiths, Lyn (2017) Investigation of polymorphisms in genes involved in estrogen metabolism in menstrual migraine. Gene, 607, pp.36-40.
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Polymorphisms of MTHFR, eNOS, ACE, AGT, ApoE, PON1, PDE4D, and ischemic stroke: Meta-analysis

Loo, Keat Wei, Au, Anthony, Menon, Saras, Griffiths, Lyn, Kooi, Cheah Wee, Looi, Irene, Zhao, Jiangyang, Lee, Chaeyoung, Alekseevna, Avdonina Maria, Abdul Hassan, Muhammad Radzi, et al. (2017) Polymorphisms of MTHFR, eNOS, ACE, AGT, ApoE, PON1, PDE4D, and ischemic stroke: Meta-analysis. Journal of Stroke and Cerebrovascular Diseases, 26 (11), pp.2482-2493.
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Exploiting heparan sulfate proteoglycans in human neurogenesis—controlling lineage specification and fate

Yu, Chieh, Griffiths, Lyn, Haupt, Larisa (2017) Exploiting heparan sulfate proteoglycans in human neurogenesis—controlling lineage specification and fate. Frontiers in Integrative Neuroscience, 11, pp.Article number: 28 1-15.
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Genome-wide linkage and association analysis of primary open-angle glaucoma endophenotypes in the Norfolk Island isolate

Matovinovic, Elizabeth, Kho, Pik Fang, Lea, Rodney, Benton, Miles, Eccles, David, Haupt, Larisa, Hewitt, Alex, Sherwin, Justin, Mackey, David, Griffiths, Lyn (2017) Genome-wide linkage and association analysis of primary open-angle glaucoma endophenotypes in the Norfolk Island isolate. Molecular Vision, 23, pp.660-665.
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Accounting for cell lineage and sex effects in the identification of cell-specific DNA methylation using a Bayesian model selection algorithm

White, Nicole, Benton, Miles, Kennedy, Daniel, Fox, Andrew, Griffiths, Lyn, Lea, Rodney, Mengersen, Kerrie (2017) Accounting for cell lineage and sex effects in the identification of cell-specific DNA methylation using a Bayesian model selection algorithm. PLoS One, 12 (9), pp.Article number: e0182455 1-18.
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Novel STAT binding elements mediate IL-6 regulation of MMP-1 and MMP-3

Cutler, Samuel, Doecke, James, Ghazawi, Ibtisam, Yang, Jinbo, Griffiths, Lyn, Spring, Kevin, Ralph, Stephen, Mellick, Albert (2017) Novel STAT binding elements mediate IL-6 regulation of MMP-1 and MMP-3. Scientific Reports, 7, pp.Article number: 8526 1-12.
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Genetic and biochemical changes of the serotonergic system in migraine pathobiology

Gasparini, Claudia, Smith, Robert, Griffiths, Lyn (2017) Genetic and biochemical changes of the serotonergic system in migraine pathobiology. Journal of Headache and Pain, 18, pp.Article number: 20 1-24.
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Ion channelopathies and migraine pathogenesis

Albury, Cassie, Stuart, Shani, Haupt, Larisa, Griffiths, Lyn (2017) Ion channelopathies and migraine pathogenesis. Molecular Genetics and Genomics, 292 (4), pp.729-739.
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The impact of APOA5 , APOB , APOC3 and ABCA1 gene polymorphisms on ischemic stroke: Evidence from a meta-analysis

Au, Anthony, Griffiths, Lyn, Looi, Irene, Kooi, Cheah Wee, Loo, Keat Wei (2017) The impact of APOA5 , APOB , APOC3 and ABCA1 gene polymorphisms on ischemic stroke: Evidence from a meta-analysis. Atherosclerosis, 265, pp.60-70.
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BDNF variants may modulate long-term visual memory performance in a healthy cohort

Avgan, Nesli, Sutherland, Heidi, Spriggens, Lauren, Yu, Chieh, Abdelrahman, Omar Ezzeldin Ibrahim, Bellis, Claire, Haupt, Larisa, Shum, David, Griffiths, Lyn (2017) BDNF variants may modulate long-term visual memory performance in a healthy cohort. International Journal of Molecular Sciences, 18 (3), pp.Article number: 655 1-14.
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Methylome-wide association study of whole blood DNA in the Norfolk Island isolate identifies robust loci associated with age

Benton, Miles, Sutherland, Heidi, Macartney-Coxson, Donia, Haupt, Larisa, Lea, Rodney, Griffiths, Lyn (2017) Methylome-wide association study of whole blood DNA in the Norfolk Island isolate identifies robust loci associated with age. Aging, 9 (3), pp.753-768.
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Dysregulation of the expression of asparagine-linked glycosylation 13 short isoform 2 affects nephrin function by altering its N-linked glycosylation

Esposito, Teresa, De Stefano, G., Reccia, M., Di Lorenzo, I., Napolitano, F., Scalabri, F., Lombardi, A., Saleem, M., Griffiths, Lyn, Gianfrancesco, Fernando (2017) Dysregulation of the expression of asparagine-linked glycosylation 13 short isoform 2 affects nephrin function by altering its N-linked glycosylation. Experimental Nephrology, 136 (2), pp.143-150.
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A genome-wide association study of essential hypertension in an Australian population using a DNA pooling approach

Fowdar, Javed, Grealy, Rebecca, Lu, Yi, Griffiths, Lyn (2017) A genome-wide association study of essential hypertension in an Australian population using a DNA pooling approach. Molecular Genetics and Genomics, 292 (2), pp.307-324.
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Response to interferon-beta treatment in multiple sclerosis patients: A genome-wide association study

Mahurkar, Sunil, Moldovan, Max, Suppiah, Vijay, Sorosina, Melissa, Clarelli, Ferdinando, Griffiths, Lyn, other, and (2017) Response to interferon-beta treatment in multiple sclerosis patients: A genome-wide association study. Pharmacogenomics Journal, 17, pp.312-318.
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Gene-centric analysis implicates nuclear encoded mitochondrial protein gene variants in migraine susceptibility

Stuart, Shani, Benton, Miles, Eccles, David, Sutherland, Heidi, Haupt, Larisa, Lea, Rodney, Griffiths, Lyn (2017) Gene-centric analysis implicates nuclear encoded mitochondrial protein gene variants in migraine susceptibility. Molecular Genetics and Genomic Medicine, 5 (2), pp.157-163.
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Genetics of migraine: Insights into the molecular basis of migraine disorders

Sutherland, Heidi, Griffiths, Lyn (2017) Genetics of migraine: Insights into the molecular basis of migraine disorders. Headache, 57 (4), pp.537-569.
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The gene SMART study: Method, study design, and preliminary findings

Yan, Xu, Eynon, Nir, Papadimitriou, Ioannis, Kuang, Jujiao, Munson, Fiona, Tirosh, Oren, O'Keefe, Lannie, Griffiths, Lyn, Ashton, Kevin, Byrne, Nuala, et al. (2017) The gene SMART study: Method, study design, and preliminary findings. BMC Genomics, 18 (S8), pp.Article number: 821 1-14.
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Differential methylation at MHC in CD4(+) T cells is associated with multiple sclerosis independently of HLA-DRB1.

Lea RA, Maltby VE, Sanders KA, White N, Benton MC, Scott RJ, Lechner-Scott J. (2017) Differential methylation at MHC in CD4(+) T cells is associated with multiple sclerosis independently of HLA-DRB1.. Clin Epigenetics.

The effect of 1 mg folic acid supplementation on clinical outcomes in female migraine with aura patients

Menon, Saras, Nasir, Bushra, Avgan, Nesli, Ghassabian, Sussan, Oliver, Chris, Lea, Rodney, Smith, Maree, Griffiths, Lyn (2016) The effect of 1 mg folic acid supplementation on clinical outcomes in female migraine with aura patients. Journal of Headache and Pain, 17, pp.Article number: 60 1-7.
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Methylenetetrahydrofolate reductase CpG islands: Epigenotyping

Loo, Keat Wei, Sutherland, Heidi, Au, Anthony, Camilleri, Emily, Haupt, Larisa, Gan, Siew Hua, Griffiths, Lyn (2016) Methylenetetrahydrofolate reductase CpG islands: Epigenotyping. Journal of Clinical Laboratory Analysis, 30 (4), pp.335-344.
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Next generation sequencing identifies novel CACNA1A gene mutations in Episodic Ataxia type 2

Maksemous, Neven, Roy, Bishakha, Smith, Robert, Griffiths, Lyn (2016) Next generation sequencing identifies novel CACNA1A gene mutations in Episodic Ataxia type 2. Molecular Genetics and Genomic Medicine, 4 (2), pp.211-222.
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Association of the microRNA-Single Nucleotide Polymorphism rs2910164 in miR146a with sporadic breast cancer susceptibility: A case control study

Upadhyaya, Ash, Smith, Robert, Chacon Cortes, Diego Fernando, Revechon, Gwladys, Bellis, Claire, Lea, Rodney, Haupt, Larisa, Chambers, Suzanne, Youl, Philippa, Griffiths, Lyn (2016) Association of the microRNA-Single Nucleotide Polymorphism rs2910164 in miR146a with sporadic breast cancer susceptibility: A case control study. Gene, 576 (1 Part 2), pp.256-260.
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Cell surface heparan sulfate proteoglycans as novel markers of human neural stem cell fate determination

Oikari, Lotta Emilia, Okolicsanyi, Rachel, Qin, Aro, Yu, Chieh, Griffiths, Lyn, Haupt, Larisa (2016) Cell surface heparan sulfate proteoglycans as novel markers of human neural stem cell fate determination. Stem Cell Research, 16 (1), pp.92-104.
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Blood gene expression studies in migraine: Potential and caveats

Gerring, Zac, Rodriguez-Acevedo, Astrid, Powell, Joseph, Griffiths, Lyn, Montgomery, Grant, Nyholt, Dale (2016) Blood gene expression studies in migraine: Potential and caveats. Cephalalgia, 36 (7), pp.669-678.
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Data defining markers of human neural stem cell lineage potential

Oikari, Lotta Emilia, Okolicsanyi, Rachel, Griffiths, Lyn, Haupt, Larisa (2016) Data defining markers of human neural stem cell lineage potential. Data in Brief, 7, pp.206-215.
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Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

Gormley, Padhraig, Anttila, Verneri, Winsvold, Bendik, Palta, Priit, Esko, Tonu, Nyholt, Dale, other, and (2016) Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine. Nature Genetics, 48 (8), pp.856-866.
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Common and low frequency variants in MERTK are independently associated with Multiple Sclerosis susceptibility with discordant association dependent upon HLA-DRB1*15:01 status

Binder, Michele, Fox, Andrew, Merlo, Daniel, Johnson, Laura, Giuffrida, Lauren, Brown, Matt, other, and (2016) Common and low frequency variants in MERTK are independently associated with Multiple Sclerosis susceptibility with discordant association dependent upon HLA-DRB1*15:01 status. PLoS Genetics, 12 (3), pp.Article number: e1005853 1-25.
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Dysregulated microRNA expression profiles and potential cellular, circulating and polymorphic biomarkers in Non-Hodgkin Lymphoma

Bradshaw, Gabrielle, Sutherland, Heidi, Haupt, Larisa, Griffiths, Lyn (2016) Dysregulated microRNA expression profiles and potential cellular, circulating and polymorphic biomarkers in Non-Hodgkin Lymphoma. Genes, 7 (12), pp.Article number: 130 1-19.
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Genetic insights into migraine and glutamate: A protagonist driving the headache

Gasparini, Claudia, Smith, Robert, Griffiths, Lyn (2016) Genetic insights into migraine and glutamate: A protagonist driving the headache. Journal of the Neurological Sciences, 367, pp.258-268.
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Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients

Maksemous, Neven, Smith, Robert, Haupt, Larisa, Griffiths, Lyn (2016) Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients. Human Genomics, 10, pp.Article number: 38 1-12.
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Eye movement disorders are an early manifestation of CACNA1A mutations in children

Tantsis, Esther, Gill, Deepak, Griffiths, Lyn, Gupta, Sachin, Lawson, John, Maksemous, Neven, Ouvrier, Robert, Riant, Florence, Smith, Robert, Troedson, Christopher, et al. (2016) Eye movement disorders are an early manifestation of CACNA1A mutations in children. Developmental Medicine and Child Neurology, 58 (6), pp.639-644.
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Signaling pathway genes for blood pressure, folate and cholesterol levels among hypertensives : an epistasis analysis

Wei, Keat, Menon, Saras, Griffiths, Lyn, Gan, Siew Hua (2015) Signaling pathway genes for blood pressure, folate and cholesterol levels among hypertensives : an epistasis analysis. Journal of Human Hypertension, 29 (2), pp.99-104.
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The influence of OLR1 and PCSK9 gene polymorphisms on ischemic stroke: Evidence from a meta-analysis

Au, Anthony, Griffiths, Lyn, Cheng, Kian-Kai, Kooi, Cheah Wee, Looi, Irene, Loo, Keat Wei (2015) The influence of OLR1 and PCSK9 gene polymorphisms on ischemic stroke: Evidence from a meta-analysis. Scientific Reports, 5, pp.Article number: 18224 1-11.
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Genetic and epigenetic variants in the MTHFR gene are not associated with non-Hodgkin lymphoma

Bradshaw, Gabrielle, Sutherland, Heidi, Camilleri, Emily, Lea, Rodney, Haupt, Larisa, Griffiths, Lyn (2015) Genetic and epigenetic variants in the MTHFR gene are not associated with non-Hodgkin lymphoma. Meta Gene, 6, pp.91-95.
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Common polygenic variation contributes to risk of migraine in the Norfolk Island population

Rodriguez-Acevedo, Astrid, Ferreira, Manuel, Benton, Miles, Carless, Melanie, Goring, Harald, Curran, Joanne, Blangero, John, Lea, Rodney, Griffiths, Lyn (2015) Common polygenic variation contributes to risk of migraine in the Norfolk Island population. Human Genetics, 134 (10), pp.1079-1087.
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Human mesenchymal stem cells retain multilineage differentiation capacity including neural marker expression after extended in vitro expansion

Okolicsanyi, Rachel, Camilleri, Emily, Oikari, Lotta Emilia, Yu, Chieh, Cool, Simon, van Wijnen, Andre, Griffiths, Lyn, Haupt, Larisa (2015) Human mesenchymal stem cells retain multilineage differentiation capacity including neural marker expression after extended in vitro expansion. PLoS One, 10 (9), pp.Article number: e0137255 1-29.
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'Mutiny on the Bounty': The genetic history of Norfolk Island reveals extreme gender-biased admixture

Benton, Miles, Stuart, Shani, Bellis, Claire, Macartney-Coxson, Donia, Eccles, David, Curran, Joanne, Chambers, Geoff, Blangero, John, Lea, Rodney, Griffiths, Lyn (2015) 'Mutiny on the Bounty': The genetic history of Norfolk Island reveals extreme gender-biased admixture. Investigative Genetics, 6, pp.Article number: 11 1-8.
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A novel fully validated LC–MS/MS method for quantification of pyridoxal-5′-phosphate concentrations in samples of human whole blood

Ghassabian, Sussan, Griffiths, Lyn, Smith, Maree (2015) A novel fully validated LC–MS/MS method for quantification of pyridoxal-5′-phosphate concentrations in samples of human whole blood. Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences, 1000, pp.77-83.
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Clinical relevance of MTHFR, eNOS, ACE, and ApoE gene polymorphisms and serum vitamin profile among Malay patients with ischemic stroke

Loo, Keat Wei, Au, Anthony, Menon, Saras, Gan, Siew Hua, Griffiths, Lyn (2015) Clinical relevance of MTHFR, eNOS, ACE, and ApoE gene polymorphisms and serum vitamin profile among Malay patients with ischemic stroke. Journal of Stroke and Cerebrovascular Diseases, 24 (9), pp.2017-2025.
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Directional dominance on stature and cognition in diverse human populations

Joshi, Peter, Esko, Tonu, Mattsson, Hannele, Eklund, Niina, Gandin, Ilaria, Nutile, Teresa, Jackson, Anne, Schurmann, Claudia, Smith, Albert, Benton, Miles, et al. (2015) Directional dominance on stature and cognition in diverse human populations. Nature, 523 (7561), pp.459-462.
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Association of microRNA 17–92 cluster host gene (MIR17HG) polymorphisms with breast cancer

Chacon Cortes, Diego Fernando, Smith, Robert, Lea, Rodney, Youl, Philippa, Griffiths, Lyn (2015) Association of microRNA 17–92 cluster host gene (MIR17HG) polymorphisms with breast cancer. Tumor Biology, 36 (7), pp.5369-5376.
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Case-control study of ADARB1 and ADARB2 gene variants in migraine

Gasparini, Claudia, Sutherland, Heidi, Maher, Bridget, Rodriguez Acevedo, Astrid Jannet, Khlifi, Elhame, Haupt, Larisa, Griffiths, Lyn (2015) Case-control study of ADARB1 and ADARB2 gene variants in migraine. Journal of Headache and Pain, 16, pp.Article number: 31 1-8.
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Association of heparan sulfate proteoglycans SDC1 and SDC4 polymorphisms with breast cancer in an Australian Caucasian population

Okolicsanyi, Rachel, Buffiere, Anne, Jacinto, Jose, Chacon Cortes, Diego Fernando, Chambers, Suzanne, Youl, Philippa, Haupt, Larisa, Griffiths, Lyn (2015) Association of heparan sulfate proteoglycans SDC1 and SDC4 polymorphisms with breast cancer in an Australian Caucasian population. Tumor Biology, 36 (3), pp.1731-1738.
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A potential epigenetic marker mediating serum folate and vitamin B12 levels contributes to ischemic stroke risk

Loo, Keat Wei, Sutherland, Heidi, Au, Anthony, Camilleri, Emily, Haupt, Larisa, Gan, Siew Hua, Griffiths, Lyn (2015) A potential epigenetic marker mediating serum folate and vitamin B12 levels contributes to ischemic stroke risk. BioMed Research International, 2015, pp.Article number: 167976 1-4.
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Effects of dietary folate intake on migraine disability and frequency

Menon, Saras, Lea, Rodney, Ingle, Sarah, Sutherland, Heidi, Wee, Shirley, Haupt, Larisa, Palmer, Michelle, Griffiths, Lyn (2015) Effects of dietary folate intake on migraine disability and frequency. Headache, 55 (2), pp.301-309.
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An analysis of DNA methylation in human adipose tissue reveals differential modification of obesity genes before and after gastric bypass and weight loss

Benton, Miles, Johnstone, Alice, Eccles, David, Harmon, Brennan, Hayes, Mark, Lea, Rodney, Griffiths, Lyn, Hoffman, Eric, Stubbs, Richard, Macartney-Coxson, Donia (2015) An analysis of DNA methylation in human adipose tissue reveals differential modification of obesity genes before and after gastric bypass and weight loss. Genome Biology, 16, pp.Article number: 8 1-21.
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Mitochondrial genome acquisition restores respiratory function and tumorigenic potential of cancer cells without mitochondrial DNA

Tan, An, Baty, James, Dong, Lan-Feng, Bezawork-Geleta, Ayenachew, Endaya, Berwini, Goodwin, Jacob, Bajzikova, Martina, Kovarova, Jaromira, Peterka, Martin, Yan, Bing, et al. (2015) Mitochondrial genome acquisition restores respiratory function and tumorigenic potential of cancer cells without mitochondrial DNA. Cell Metabolism, 21 (1), pp.81-94.
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A Phenomic Scan of the Norfolk Island Genetic Isolate Identifies a Major Pleiotropic Effect Locus Associated with Metabolic and Renal Disorder Markers

Benton, Miles, Lea, Rodney, Macartney-Coxson, Donia, Hanna, Michelle, Eccles, David, Carless, Melanie, Chambers, Geoff, Bellis, Claire, Goring, Harald, Curran, Joanne, et al. (2015) A Phenomic Scan of the Norfolk Island Genetic Isolate Identifies a Major Pleiotropic Effect Locus Associated with Metabolic and Renal Disorder Markers. PLoS Genetics, 11 (10), pp.Article number: e1005593 1-17.
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Genetic association analysis of miRNA SNPs implicates MIR145 in breast cancer susceptibility

Chacon Cortes, Diego Fernando, Smith, Robert, Haupt, Larisa, Lea, Rodney, Youl, Philippa, Griffiths, Lyn (2015) Genetic association analysis of miRNA SNPs implicates MIR145 in breast cancer susceptibility. BMC Medical Genetics, 16, pp.Article number: 107 1-11.
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A rare P2X7 variant Arg307Gln with absent pore formation function protects against neuroinflammation in multiple sclerosis

Gu, Ben, Field, Judith, Dutertre, Sebastien, Ou, Amber, Kilpatrick, Trevor, Lechner-Scott, Jeannette, Scott, Rodney, Lea, Rodney, Taylor, Bruce, Stankovich, Jim, et al. (2015) A rare P2X7 variant Arg307Gln with absent pore formation function protects against neuroinflammation in multiple sclerosis. Human Molecular Genetics, 24 (19), pp.5644-5654.
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Evaluation of a 7-gene genetic profile for athletic endurance phenotype in Ironman championship triathletes

Grealy, Rebecca, Herruer, Jasper, Smith, Carl, Hiller, Doug, Haseler, Luke, Griffiths, Lyn (2015) Evaluation of a 7-gene genetic profile for athletic endurance phenotype in Ironman championship triathletes. PLoS One, 10 (12), pp.Article number: e0145171 1-20.
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The MS risk allele of CD40 is associated with reduced cell-membrane bound expression in antigen presenting cells: Implications for gene function

Field, Judith, Shahijanian, Fernando, Schibeci, Stephen, Johnson, Laura, Gresle, Melissa, Laverick, Louise, Parnell, Grant, Stewart, Graeme, McKay, Fiona, Kilpatrick, Trevor, et al. (2015) The MS risk allele of CD40 is associated with reduced cell-membrane bound expression in antigen presenting cells: Implications for gene function. PLoS One, 10 (6), pp.Article number: e0127080 1-14.
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Genetic analysis of GRIA2 and GRIA4 genes in Migraine.

Gasparini, Claudia, Sutherland, Heidi, Haupt, Larisa, Griffiths, Lyn (2014) Genetic analysis of GRIA2 and GRIA4 genes in migraine. Headache, 54 (2), pp.303-312.
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Heparan sulfate proteoglycans and human breast cancer epithelial cell tumorigenicity

Okolicsanyi, Rachel, van Wijnen, Andre, Cool, Simon, Stein, Gary, Griffiths, Lyn, Haupt, Larisa (2014) Heparan sulfate proteoglycans and human breast cancer epithelial cell tumorigenicity. Journal of Cellular Biochemistry, 115 (5), pp.967-976.
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Brain derived neurotrophic factor gene (BDNF) variants in migraine.

Sutherland, Heidi, Maher, Bridget, Rodriguez Acevedo, Astrid Jannet, Haupt, Larisa, Griffiths, Lyn (2014) Investigation of brain-derived neurotrophic factor (BDNF) gene variants in migraine. Headache, 54 (7), pp.1184-1193.
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Epigenetics and Migraine; could mitochondrial genome methylation play an important role in disease susceptibility.

Roos-Araujo, Deidre, Stuart, Shani, Lea, Rodney, Haupt, Larisa, Griffiths, Lyn (2014) Epigenetics and migraine; complex mitochondrial interactions contributing to disease susceptibility. Gene, 543 (1), pp.1-7.
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Fully validated LC–MS/MS method for quantification of homocysteine concentrations in samples of human serum : a new approach

Ghassabian, Sussan, Rethwan, Nur Syazwani Ahmad, Griffiths, Lyn, Smith, Maree (2014) Fully validated LC–MS/MS method for quantification of homocysteine concentrations in samples of human serum: A new approach. Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences, 972, pp.14-21.
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Potential antioxidant response to coffee - A matter of genotype?

Hassmann, Ute, Haupt, Larisa, Smith, Robert, Winkler, Swantje, Bytof, Gerhard, Lantz, Ingo, Griffiths, Lyn, Marko, Doris (2014) Potential antioxidant response to coffee - A matter of genotype?. Meta Gene, 2, pp.525-539.
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Computational epigenetic profiling of CpG islets in MTHFR

Wei, Keat, Sutherland, Heidi, Camilleri, Emily, Haupt, Larisa, Griffiths, Lyn, Gan, Siew Hua (2014) Computational epigenetic profiling of CpG islets in MTHFR. Molecular Biology Reports, 41 (12), pp.8285-8292.
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Association of the SNP rs2623047 in the HSPG modification enzyme SULF1 with an Australian Caucasian Breast Cancer Cohort

Okolicsanyi, Rachel, Faure, Marion, Jacinto, Jose, Chacon Cortes, Diego Fernando, Chambers, Suzanne, Youl, Philippa, Haupt, Larisa, Griffiths, Lyn (2014) Association of the SNP rs2623047 in the HSPG modification enzyme SULF1 with an Australian Caucasian Breast Cancer Cohort. Gene, 547 (1), pp.50-54.
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Association study of MTHFD1 coding polymorphisms R134K and R653Q with migraine susceptibility

Sutherland, Heidi, Hermile, Heloise, Sanche, Rebecca, Menon, Saras, Lea, Rodney, Haupt, Larisa, Griffiths, Lyn (2014) Association study of MTHFD1 coding polymorphisms R134K and R653Q with migraine susceptibility. Headache, 54 (9), pp.1506-1514.
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Methods for extracting genomic DNA from whole blood samples : current perspectives

Chacon Cortes, Diego Fernando, Griffiths, Lyn (2014) Methods for extracting genomic DNA from whole blood samples : current perspectives. Journal of Biorepository Science for Applied Medicine, 2014 (2), pp.1-9.

In silico analyses reveal common cellular pathways affected by loss of heterozygosity (LOH) events in the lymphomagenesis of Non-Hodgkin’s lymphoma (NHL)

Aya Bonilla, Carlos, Camilleri, Emily, Haupt, Larisa, Lea, Rodney, Gandhi, Maher, Griffiths, Lyn (2014) In silico analyses reveal common cellular pathways affected by loss of heterozygosity (LOH) events in the lymphomagenesis of Non-Hodgkin’s lymphoma (NHL). BMC Genomics, 15, pp.Article number: 390 1-12.
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Mesenchymal stem cells, neural lineage potential, heparan sulfate proteoglycans and the matrix

Okolicsanyi, Rachel, Griffiths, Lyn, Haupt, Larisa (2014) Mesenchymal stem cells, neural lineage potential, heparan sulfate proteoglycans and the matrix. Developmental Biology, 388 (1), pp.1-10.
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A sweet promise among Malaysians [Letter to the Editor]

Loo, Keat Wei, Griffiths, Lyn, Gan, Siew Hua (2014) A sweet promise among Malaysians [Letter to the Editor]. Journal of Diabetes, 6 (5), pp.447-447.
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Genetic polymorphisms in miRNAs targeting the estrogen receptor and their effect on breast cancer risk

Nguyen-Dien, Giang, Smith, Robert, Haupt, Larisa, Griffiths, Lyn, Nguyen, Hue (2014) Genetic polymorphisms in miRNAs targeting the estrogen receptor and their effect on breast cancer risk. Meta Gene, 2, pp.226-236.
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Genetic association and gene expression studies suggest that genetic variants in the SYNE1 and TNF genes are related to menstrual migraine

Rodriguez Acevedo, Astrid Jannet, Smith, Robert, Roy, Bishakha, Sutherland, Heidi, Lea, Rodney, Frith, Alison, MacGregor, Anne, Griffiths, Lyn (2014) Genetic association and gene expression studies suggest that genetic variants in the SYNE1 and TNF genes are related to menstrual migraine. Journal of Headache and Pain, 15, pp.Article number: 62 1-9.
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No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis

Goris, An, van Setten, Jessica, Diekstra, Frank, Ripke, Stephan, Patsopoulos, Nikolaos, Sawcer, Stephen, van Es, Michael, Griffiths, Lyn, other, and (2014) No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis. Human Molecular Genetics, 23 (7), pp.1916-1922.
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The CYP27B1 variant associated with increased risk of autoimmune disease is under expressed in tolerising dendritic cells

Shahijanian, Fernando, Parnell, Grant, McKay, Fiona, Gatt, Prudence, Shojoei, Maryam, O'Connor, Kate, Schibeci, Stephen, Brilot, Fabienne, Liddle, Christopher, Batten, Marcel, et al. (2014) The CYP27B1 variant associated with increased risk of autoimmune disease is under expressed in tolerising dendritic cells. Human Molecular Genetics, 23 (6), pp.1425-1434.
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Variation h452y in htr2a gene affects immediate visual memory

Avgan, Nesli, Sutherland, Heidi, Spriggens, Lauren, Rodriguez-Acevedo, Astrid, Haupt, Larisa, Shum, David, Griffiths, Lyn (2014) Variation h452y in htr2a gene affects immediate visual memory. Journal of Genetics and Genome Research, 1 (2), pp.1-4.

Psip1/Ledgf p75 restrains Hox gene expression by recruiting both trithorax and polycomb group proteins

Pradeepa, Madapura, Grimes, Graeme, Taylor, Gillian, Sutherland, Heidi, Bickmore, Wendy (2014) Psip1/Ledgf p75 restrains Hox gene expression by recruiting both trithorax and polycomb group proteins. Nucleic Acids Research, 42 (14), pp.9021-9032.
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Investigation of lymphotoxin genetic variants in migraine

Oikari, Lotta, Stuart, Shani, Okolicsanyi, Rachel, Cox, Hannah, Dixit, Sonum, Lea, Rodney, Haupt, Larisa, Griffiths, Lyn (2013) Investigation of lymphotoxin α genetic variants in migraine. Gene, 512 (2), pp.527-531.
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Molecular genetics of migraine

Stuart, Shani, Maher, Bridget, Oikari, Lotta, Griffiths, Lyn (2013) Molecular genetics of migraine. eLS.

The biology of the glutamatergic system and potential role in migraine

Gasparini, Claudia, Griffiths, Lyn (2013) The biology of the glutamatergic system and potential role in migraine. International Journal of Biomedical Science, 9 (1), pp.1-8.
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Perianal disease combined with NOD2 genotype predicts need for IBD-related surgery in Crohn’s Disease patients from a population-based cohort

Nasir, Bushra, Griffiths, Lyn, Nasir, Aslam, Roberts, Rebecca, Barclay, Murray, Gearry, Richard, Lea, Rodney (2013) Perianal disease combined with NOD2 genotype predicts need for IBD-related surgery in Crohn’s Disease patients from a population-based cohort. Journal of Clinical Gastroenterology, 47 (3), pp.242-245.
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CD4+ Tumor infiltrating lymphocytes are prognostic and independent of R-IPI in patients with DLBCL receiving R-CHOP chemo-immunotherapy.

Keane, Colm, Gill, Devinder, Vari, Frank, Cross, Donna, Griffiths, Lyn, Gandhi, Maher (2013) CD4+ tumor infiltrating lymphocytes are prognostic and independent of R-IPI in patients with DLBCL receiving R-CHOP chemo-immunotherapy. American Journal of Hematology, 88 (4), pp.273-276.
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High-resolution loss of heterozygosity screening implicates PTPRJ as a potential tumor suppressor gene that affects susceptibility to non-Hodgkin's Lymphoma

Aya-Bonilla, Carlos, Green, Michael, Camilleri, Emily, Benton, Miles, Keane, Colm, Marlton, Paula, Lea, Rodney, Gandhi, Maher, Griffiths, Lyn (2013) High-resolution loss of heterozygosity screening implicates PTPRJ as a potential tumor suppressor gene that affects susceptibility to non-Hodgkin's Lymphoma. Genes Chromosomes and Cancer, 52 (5), pp.467-479.
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Association of oestrogen-receptor gene (ESR1) polymorphisms with migraine in the large Norfolk Island pedigree

Rodriguez-Acevedo, Astrid, Maher, Bridget, Lea, Rodney, Benton, Miles, Griffiths, Lyn (2013) Association of oestrogen-receptor gene (ESR1) polymorphisms with migraine in the large Norfolk Island pedigree. Cephalalgia, 33 (14), pp.1139-1147.
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Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.

Esposito, Teresa, Lea, Rodney, Maher, Bridget, Moses, Dianne, Cox, Hannah, Magliocca, Sara, Angius, Andrea, Nyholt, Dale, Titus, Thomas, Kay, Troy, et al. (2013) Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene. Human Molecular Genetics, 22 (18), pp.3654-3666.
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Review: Alternative splicing (AS) of genes as an approach for generating protein complexity.

Roy, Bishakha, Haupt, Larisa, Griffiths, Lyn (2013) Review : alternative splicing (AS) of genes as an approach for generating protein complexity. Current Genomics, 14 (3), pp.182-194.
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The Genetics of Endurance: Frequency of the ACTN3 R577X variant in Ironman World Championship Athletes.

Grealy, Rebecca, Smith, Carl, Chen, Timothy, Hiller, Doug, Haseler, Luke, Griffiths, Lyn (2013) The genetics of endurance : frequency of the ACTN3 R577X variant in Ironman World Championship athletes. Journal of Science and Medicine in Sport, 16 (4), pp.365-371.
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Investigation of APOE isoforms and the association between APOE E3 and E4 with migraine in the Australian Caucasian population.

Stuart, Shani, Donges, Bianca, Murrell, Melanie, Haupt, Larisa, Lea, Rodney, Griffiths, Lyn (2013) Investigation of APOE isoforms and the association between APOE E3 and E4 with migraine in the Australian Caucasian population. NeuroReport, 24 (10), pp.499-503.
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Analysis of 3 common polymorphisms in the KCNK18 gene in an Australian Migraine Case-control cohort.

Maher, Bridget, Taylor, Megan, Stuart, Shani, Okolicsanyi, Rachel, Roy, Bishakha, Sutherland, Heidi, Haupt, Larisa, Griffiths, Lyn (2013) Analysis of 3 common polymorphisms in the KCNK18 gene in an Australian migraine case-control cohort. Gene, 528 (2), pp.343-346.
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BDNF and TNF-a polymorphisms in retrospective and prospective memory

Yogeetha, B.S., Haupt, Larisa, McKenzie, K., Sutherland, Heidi, Okolicsanyi, Rachel, Lea, Rodney, Maher, Bridget, Chan, Raymond, Shum, David, Griffiths, Lyn (2013) BDNF and TNF-α polymorphisms in memory. Molecular Biology Reports, 40 (9), pp.5483-5490.
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Genetic variation in cytokine-related genes and migraine susceptibility.

Stuart, Shani, Maher, Bridget, Sutherland, Heidi, Benton, Miles, Rodriguez-Acevedo, Astrid, Lea, Rodney, Haupt, Larisa, Griffiths, Lyn (2013) Genetic variation in cytokine-related genes and migraine susceptibility. Twin Research and Human Genetics, 16 (6), pp.1076-1086.
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Association of a GRIA3 gene polymorphism and migraine susceptibility in an Australian case-control cohort.

Maher, Bridget, Lea, Rodney, Follett, Jordan, Cox, Hannah, Fernandez, Francesca, Esposito, Teresa, Gianfrancesco, Fernando, Haupt, Larisa, Griffiths, Lyn (2013) Association of a GRIA3 gene polymorphism with migraine in an Australian case-control cohort. Headache, 53 (8), pp.1245-1249.
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Studies on the pathophysiology and molecular basis of migraine.

(2013) Studies on the pathophysiology and molecular basis of migraine.. .

Polyalanine repeat polymorphism in RUNX2 is associated with site-specific fracture in post-menopausal females.

Morrison, Nigel, Stephens, Alexandre, Osato, Motomi, Pasco, Julie, Fozzard, Nicolette, Stein, Gary, Polly, Patsie, Griffiths, Lyn, Nicholson, Geoff (2013) Polyalanine repeat polymorphism in RUNX2 is associated with site-specific fracture in post-menopausal females. PLoS One, 8 (9), pp.1-8.
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Identity-by-descent mapping to detect rare variants conferring susceptibility to multiple sclerosis

Lin, Rui, Charlesworth, Jac, Stankovich, Jim, Perreau, Victoria, Brown, Matthew, Taylor, Bruce, other, and (2013) Identity-by-descent mapping to detect rare variants conferring susceptibility to multiple sclerosis. PLoS One, 8 (3), pp.Article number: e56379 1-8.
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Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer's disease, multiple sclerosis and endometriosis

Hong lee, Sang, Harold, Denise, Nyholt, Dale, Goddard, Michael, Zondervan, Krina, Williams, Julie, Montgomery, Grant, Wray, Naomi, Visscher, Peter (2013) Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer's disease, multiple sclerosis and endometriosis. Human Molecular Genetics, 22 (4), pp.832-841.
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Association study of the calcitonin gene-related polypeptide-alpha (CALCA) and the receptor activity modifying 1 (RAMP1) genes with migraine

Sutherland, Heidi, Buteri, J., Menon, Saras, Haupt, Larisa, MacGregor, E., Lea, Rodney, Griffiths, Lyn (2013) Association study of the calcitonin gene-related polypeptide-alpha (CALCA) and the receptor activity modifying 1 (RAMP1) genes with migraine. Gene, 515 (1), pp.187-192.
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Nutraceuticals in migraine treatment

Menon, Saras, Griffiths, Lyn (2013) Nutraceuticals in migraine treatment. In Diener, H C (Ed.), Novel approaches in migraine treatment, pp.134-145.
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Polyalanine repeat polymorphism in RUNX2 is associated with site-specific fracture in post-menopausal females

Morrison, Nigel, Stephens, Alexandre, Osato, Motomi, Pasco, Julie, Fozzard, Nicolette, Stein, Gary, Polly, Patsie, Griffiths, Lyn, Nicholson, Geoff (2013) Polyalanine repeat polymorphism in RUNX2 is associated with site-specific fracture in post-menopausal females. PLoS One, 8 (9), pp.1-8.
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An envirogenomic signature is associated with risk of IBD-related surgery in a population-based Crohn’s Disease cohort

Nasir, Bushra, Griffiths, Lyn, Nasir, Aslam, Roberts, Rebecca, Barclay, Murray, Gearry, Richard, Lea, Rodney (2013) An envirogenomic signature is associated with risk of IBD-related surgery in a population-based Crohn’s Disease cohort. Journal of Gastrointestinal Surgery, 17 (9), pp.1643-1650.
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Mapping eQTLs in the Norfolk Island genetic isolate identifies candidate genes for CVD risk traits

Benton, Miles, Lea, Rodney, Macartney-Coxson, Donia, Carless, Melanie, Goring, Harold, Bellis, Claire, Hanna, Michelle, Eccles, David, Chambers, Geoff, Curran, Joanne, et al. (2013) Mapping eQTLs in the Norfolk Island genetic isolate identifies candidate genes for CVD risk traits. American Journal of Human Genetics, 93 (6), pp.1087-1099.
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Fine-mapping the genetic association of the major histocompatibility complex in multiple sclerosis: HLA and non-HLA effects

Patsopoulos, Nikolaos, Barcellos, Lisa, Hintzen, Rogier, Schaefer, Catherine, van Duijn, Cornelia, Noble, Janelle, Raj, Towfique, Griffiths, Lyn, other, and (2013) Fine-mapping the genetic association of the major histocompatibility complex in multiple sclerosis: HLA and non-HLA effects. PLoS Genetics, 9 (11), pp.Article number: e1003926 1-10.
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Resequencing and fine-mapping of the chromosome 12q13-14 locus associated with multiple sclerosis refines the number of implicated genes

Cortes, Adrian, Field, Judith, Glazov, Evgeny, Hadler, Johanna, Stankovich, Jim, Brown, Matthew, Baxter, Alan, Kermode, Allan, Taylor, Bruce, Booth, David, et al. (2013) Resequencing and fine-mapping of the chromosome 12q13-14 locus associated with multiple sclerosis refines the number of implicated genes. Human Molecular Genetics, 22 (11), pp.2283-2292.
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Emerging genomic biomarkers in migraine

Menon, Saras, Griffiths, Lyn (2013) Emerging genomic biomarkers in migraine. Future Neurology, 8 (1), pp.87-101.
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The association between pterygium and conjunctival ultraviolet autofluorescence : The Norfolk Island Eye Study

Sherwin, Justin, Hewitt, Alex, Kearns, Lisa, Griffiths, Lyn, Mackey, David, Coroneo, Minas (2013) The association between pterygium and conjunctival ultraviolet autofluorescence : The Norfolk Island Eye Study. Acta Ophthalmologica, 91 (4), pp.363-370.
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Functional analysis of missense variants in the TRESK (KCNK18) K+ channel

Andres-Enguix, Isabelle, Shang, Lijun, Stansfeld, Phillip, Morahan, Julia, Sansom, Mark, Lafreniere, Ronald, Roy, Bishakha, Griffiths, Lyn, Rouleau, Guy, Ebers, George, et al. (2012) Functional analysis of missense variants in the TRESK (KCNK18) K+ channel. Scientific Reports, 2, pp.1-7.
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Genotypes of the MTHFR C677T and MTRR A66G genes act independently to reduce migraine disability in response to vitamin supplementation

Menon, Saras, Lea, Rodney, Roy, Bishakha, Hanna, Michelle, Wee, Shirley, Haupt, Larisa, Oliver, Chris, Griffiths, Lyn (2012) Genotypes of the MTHFR C677T and MTRR A66G genes act independently to reduce migraine disability in response to vitamin supplementation. Pharmacogenetics and Genomics, 22 (10), pp.741-749.
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Induction of antioxidative Nrf2 gene transcription by coffee in humans : depending on genotype?

Boettler, Ute, Volz, Nadine, Teller, Nicole, Haupt, Larisa, Bakuradze, Tamara, Eisenbrand, Gerhard, Bytof, Gerhard, Lantz, Ingo, Griffiths, Lyn, Marko, Doris (2012) Induction of antioxidative Nrf2 gene transcription by coffee in humans : depending on genotype?. Molecular Biology Reports, 39 (6), pp.7155-7162.
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Comparison of genomic DNA extraction techniques from whole blood samples : a time, cost and quality evaluation study

Chacon-Cortes, Diego, Haupt, Larisa, Lea, Rodney, Griffiths, Lyn (2012) Comparison of genomic DNA extraction techniques from whole blood samples : a time, cost and quality evaluation study. Molecular Biology Reports, 39 (5), pp.5961-5966.
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Heritability and genome-wide linkage analysis of migraine in the genetic isolate of Norfolk Island

Cox, Hannah, Lea, Rodney, Bellis, Claire, Nyholt, Dale, Dyer, Thomas, Haupt, Larisa, Charlesworth, Jac, Matovinovic, Elizabeth, Blangero, John, Griffiths, Lyn (2012) Heritability and genome-wide linkage analysis of migraine in the genetic isolate of Norfolk Island. Gene, 494 (1), pp.119-123.
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Complete mitochondrial genome sequencing reveals novel haplotypes in a Polynesian population

Benton, Miles, Macartney-Coxson, Donia, Eccles, David, Griffiths, Lyn, Chambers, Geoff, Lea, Rodney (2012) Complete mitochondrial genome sequencing reveals novel haplotypes in a Polynesian population. PLoS One, 7 (4), pp.1-8.
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Environments for Healthy Living (EFHL) Griffith Birth Cohort Study : background and methods

Cameron, Cate, Scuffham, Paul, Spinks, Anneliese, Scott, Rani, Sipe, Neil, Ng, ShuKay (Angus), Wilson, Andrew, Searle, Judy, Lyons, Ronan, Kendall, Elizabeth, et al. (2012) Environments for Healthy Living (EFHL) Griffith Birth Cohort Study : background and methods. Maternal and Child Health Journal, 16 (9), pp.1896-1905.
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Investigation of the role of the GABRG2 gene variant in migraine

Chen, Timothy, Murrell, Melanie, Fowdar, Javed, Roy, Bishakha, Grealy, Rebecca, Griffiths, Lyn (2012) Investigation of the role of the GABRG2 gene variant in migraine. Journal of the Neurological Sciences, 318 (1 - 2), pp.112-114.
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A genome-wide analysis of 'Bounty' descendants implicates several novel variants in migraine susceptibility

Cox, Hannah, Lea, Rodney, Bellis, Claire, Carless, Melanie, Dyer, Thomas, Curran, Joanne, Charlesworth, Jac, Macgregor, Stuart, Nyholt, Dale, Chasman, Daniel, et al. (2012) A genome-wide analysis of 'Bounty' descendants implicates several novel variants in migraine susceptibility. Neurogenetics, 13 (3), pp.261-266.
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Role of the apolipoprotein E and catechol-O-methyltransferase genes in prospective and retrospective memory traits

Donges, Bianca, Haupt, Larisa, Lea, Rodney, Chan, Raymond, Shum, David, Griffiths, Lyn (2012) Role of the apolipoprotein E and catechol-O-methyltransferase genes in prospective and retrospective memory traits. Gene, 506 (1), pp.135-140.
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Investigation of homocysteine-pathway-related variants in essential hypertension

Fowdar, Javed, Lason, Marta, Szvetko, Attila, Lea, Rodney, Griffiths, Lyn (2012) Investigation of homocysteine-pathway-related variants in essential hypertension. International Journal of Hypertension, 2012, pp.1-9.
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Closing the case of APOE in multiple sclerosis : no association with disease risk in over 29,000 subjects

Lill, Christina, Liu, Tian, Schjeide, Brit-Maren, Roehr, Johannes, Akkad, Denis, Damotte, Vincent, Alcina, Antonio, Ortiz, Miguel, Arroyo, Rafa, de Lapuente, Aitzkoa Lopez, et al. (2012) Closing the case of APOE in multiple sclerosis : no association with disease risk in over 29,000 subjects. Journal of Medical Genetics, 49 (9), pp.558-562.
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Common PPARγ variants C161T and Pro12Ala are not associated with inflammatory bowel disease in an Australian cohort

Hume, Georgia, Fowler, Elizabeth, Griffiths, Lyn, Doecke, James, Radford-Smith, Graham (2012) Common PPARγ variants C161T and Pro12Ala are not associated with inflammatory bowel disease in an Australian cohort. Journal of Gastrointestinal and Liver Diseases, 21 (4), pp.349-355.
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A novel multiplex PCR-RFLP method for simultaneous detection of the MTHFR 677 C > T, eNOS +894 G > T and - eNOS -786 T > C variants among Malaysian Malays

Loo, Keat Wei, Griffiths, Lyn, Gan, Siew Hua (2012) A novel multiplex PCR-RFLP method for simultaneous detection of the MTHFR 677 C > T, eNOS +894 G > T and - eNOS -786 T > C variants among Malaysian Malays. BMC Medical Genetics, 13, pp.1-9.
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An X chromosome association scan of the Norfolk Island genetic isolate provides evidence for a novel migraine susceptibility locus at Xq12

Maher, Bridget, Lea, Rodney, Benton, Miles, Cox, Hannah, Bellis, Claire, Carless, Melanie, Dyer, Thomas, Curran, Joanne, Charlesworth, Jac, Buring, Julie, et al. (2012) An X chromosome association scan of the Norfolk Island genetic isolate provides evidence for a novel migraine susceptibility locus at Xq12. PLoS One, 7 (5), pp.1-7.
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Epistatic effects of potassium channel variation on cardiac repolarization and atrial fibrillation risk

Mann, Stefan, Otway, Robyn, Guo, Guanglan, Soka, Magdalena, Karlsdotter, Lina, Trivedi, Gunjan, Ohanian, Monique, Zodgekar, Poonam, Smith, Robert, Wouters, Merridee, et al. (2012) Epistatic effects of potassium channel variation on cardiac repolarization and atrial fibrillation risk. Journal of the American College of Cardiology, 59 (11), pp.1017-1025.
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Cardiomyopathy classification : ongoing debate in the genomics era

McCartan, Charles, Mason, Robert, Jayasinghe, S.R., Griffiths, Lyn (2012) Cardiomyopathy classification : ongoing debate in the genomics era. Biochemistry Research International, 2012, pp.1-10.
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The human μ-opioid receptor gene polymorphism (A118G) is associated with head pain severity in a clinical cohort of female migraine with aura patients

Menon, Saras, Lea, Rodney, Roy, Bishakha, Hanna, Michelle, Wee, Shirley, Haupt, Larisa, Griffiths, Lyn (2012) The human μ-opioid receptor gene polymorphism (A118G) is associated with head pain severity in a clinical cohort of female migraine with aura patients. Journal of Headache and Pain, 13 (7), pp.513-519.
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The association between time spent outdoors and myopia using a novel biomarker of outdoor light exposure

Sherwin, Justin, Hewitt, Alex, Coroneo, Minas, Kearns, Lisa, Griffiths, Lyn, Mackey, David (2012) The association between time spent outdoors and myopia using a novel biomarker of outdoor light exposure. Investigative Ophthalmology and Visual Science, 53 (8), pp.4363-4370.
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Authors' response -- Approach to evaluating the reliability and validity of conjunctival ultraviolet autofluorescence measurement

Sherwin, Justin, Hewitt, Alex, McKnight, Charlotte, Griffiths, Lyn, Coroneo, Minas, Mackey, David (2012) Authors' response -- Approach to evaluating the reliability and validity of conjunctival ultraviolet autofluorescence measurement. British Journal of Ophthalmology, 96 (9), pp.1271-1271.
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Circulating microRNAs involved in multiple sclerosis

Rutherford Siegel, Sue, Mackenzie, Jason, Chaplin, George, Jablonski, Nina, Griffiths, Lyn (2012) Circulating microRNAs involved in multiple sclerosis. Molecular Biology Reports, 39 (5), pp.6219-6225.
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A genetic variant located in miR-423 is associated with reduced breast cancer risk

Smith, Robert, Jedlinski, Dominik, Gabrovska, Plamena, Weinstein, Stephen, Haupt, Larisa, Griffiths, Lyn (2012) A genetic variant located in miR-423 is associated with reduced breast cancer risk. Cancer Genomics and Proteomics, 9 (3), pp.115-118.
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A possible role for mitochondrial dysfunction in migraine

Stuart, Shani, Griffiths, Lyn (2012) A possible role for mitochondrial dysfunction in migraine. Molecular Genetics and Genomics, 287 (11 - 12), pp.837-844.
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The role of the MTHFR gene in migraine

Stuart, Shani, Cox, Hannah, Lea, Rodney, Griffiths, Lyn (2012) The role of the MTHFR gene in migraine. Headache, 52 (3), pp.515-520.
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Detection of a novel mutation in the CACNA1A gene

Stuart, Shani, Roy, Bishakha, Davies, Gail, Maksemous, Nevene, Smith, Robert, Griffiths, Lyn (2012) Detection of a novel mutation in the CACNA1A gene. Twin Research and Human Genetics, 15 (1), pp.120-125.
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Effect of coffee combining green coffee bean constituents with typical roasting products on the Nrf2/ARE pathway in vitro and in vivo

Volz, Nadine, Boettler, Ute, Winkler, Swantje, Teller, Nicole, Schwarz, Christoph, Bakuradze, Tamara, Eisenbrand, Gerhard, Haupt, Larisa, Griffiths, Lyn, Stiebitz, Herbert, et al. (2012) Effect of coffee combining green coffee bean constituents with typical roasting products on the Nrf2/ARE pathway in vitro and in vivo. Journal of Agricultural and Food Chemistry, 60 (38), pp.9631-9641.
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Development of an eight gene expression profile implicating human breast tumours of all grade

Gabrovska, P.N., Smith, Robert, Tiang, Thomas, Weinstein, Stephen, Haupt, Larisa, Griffiths, Lyn (2012) Development of an eight gene expression profile implicating human breast tumours of all grade. Molecular Biology Reports, 39 (4), pp.3879-3892.
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Confirmation that Xq27 and Xq28 are susceptibility loci for migraine in independent pedigrees and a case-control cohort

Maher, Bridget, Kerr, M., Cox, Hannah, MacMillan, J.C., Brimage, P.J., Esposito, Teresa, Gianfrancesco, Fernando, Haupt, Larisa, Nyholt, Dale, Lea, Rodney, et al. (2012) Confirmation that Xq27 and Xq28 are susceptibility loci for migraine in independent pedigrees and a case-control cohort. Neurogenetics, 13 (1), pp.97-101.
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Psip1/Ledgf p52 binds methylated histone H3K36 and splicing factors and contributes to the regulation of alternative splicing

Pradeepa, Madapura, Sutherland, Heidi, Ule, Jernej, Grimes, Graeme, Bickmore, Wendy (2012) Psip1/Ledgf p52 binds methylated histone H3K36 and splicing factors and contributes to the regulation of alternative splicing. PLoS Genetics, 8 (5), pp.Article number: e1002717 1-15.
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Investigation of two Wnt signalling pathway single nucleotide polymorphisms in a breast cancer-affected Australian population

Gabrovska, Plamena, Smith, Robert, Haupt, Larisa, Griffiths, Lyn (2011) Investigation of two Wnt signalling pathway single nucleotide polymorphisms in a breast cancer-affected Australian population. Twin Research and Human Genetics, 14 (6), pp.562-567.
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Investigation of the 1758G>C and 2880A>G variants within the NCOA3 gene in a breast cancer affected Australian population

Gabrovska, P.N., Smith, Robert, O'Leary, G., Haupt, Larisa, Griffiths, Lyn (2011) Investigation of the 1758G>C and 2880A>G variants within the NCOA3 gene in a breast cancer affected Australian population. Gene, 482 (1 - 2), pp.68-72.
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Investigation of Association between PFO complicated by cryptogenic stroke and a common variant of the cardiac transcription factor GATA4

Marjaneh, Mahdi Moradi, Kirk, Edwin, Posch, Maximilian, Ozcelik, Cemil, Berger, Felix, Hetzer, Roland, Otway, Robyn, Butler, Tanya, Blue, Gillian, Griffiths, Lyn, et al. (2011) Investigation of Association between PFO complicated by cryptogenic stroke and a common variant of the cardiac transcription factor GATA4. PLoS One, 6 (6), pp.1-7.
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Variants in the human potassium channel gene (KCNN3) are associated with migraine in a high risk genetic isolate

Cox, Hannah, Lea, Rodney, Bellis, Claire, Carless, Melanie, Dyer, Thomas, Blangero, John, Griffiths, Lyn (2011) Variants in the human potassium channel gene (KCNN3) are associated with migraine in a high risk genetic isolate. Journal of Headache and Pain, 12 (6), pp.603-608.
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Semaphorin–plexin signalling genes associated with human breast tumourigenesis

Gabrovska, Plamena, Smith, Robert, Tiang, Thomas, Weinstein, Stephen, Haupt, Larisa, Griffiths, Lyn (2011) Semaphorin–plexin signalling genes associated with human breast tumourigenesis. Gene, 489 (2), pp.63-69.
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A novel immunodeficiency disorder characterized by genetic amplification of interleukin 25

Green, Michael, Camilleri, Emily, Gandhi, Maher, Peake, Jane, Griffiths, Lyn (2011) A novel immunodeficiency disorder characterized by genetic amplification of interleukin 25. Genes and Immunity, 12 (8), pp.663-666.
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Integrative genomic profiling reveals conserved genetic mechanisms for tumorigenesis in common entities of non-Hodgkin's lymphoma

Green, Michael, Aya-Bonilla, Carlos, Gandhi, Maher, Lea, Rodney, Wellwood, Jeremy, Wood, Peter, Marlton, Paula, Griffiths, Lyn (2011) Integrative genomic profiling reveals conserved genetic mechanisms for tumorigenesis in common entities of non-Hodgkin's lymphoma. Genes Chromosomes and Cancer, 50 (5), pp.313-326.
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Single nucleotide polymorphism in hsa-mir-196a-2 and breast cancer risk : a case control study

Jedlinski, Dominik, Gabrovska, Plamena, Weinstein, Stephen, Smith, Robert, Griffiths, Lyn (2011) Single nucleotide polymorphism in hsa-mir-196a-2 and breast cancer risk : a case control study. Twin Research and Human Genetics, 14 (5), pp.417-421.
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The Norfolk Island Eye Study (NIES) : rationale, methodology and distribution of ocular biometry (Biometry of the Bounty)

Mackey, David, Sherwin, Justin, Kearns, Lisa, Ma, Yaling, Kelly, John, Chu, Byoung-Sun, MacMillan, Robert, Barbour, Julie, Wilkinson, Colleen, Matovinovic, Elizabeth, et al. (2011) The Norfolk Island Eye Study (NIES) : rationale, methodology and distribution of ocular biometry (Biometry of the Bounty). Twin Research and Human Genetics, 14 (1), pp.42-52.
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Identification of molecular genetic factors that influence migraine

Maher, Bridget, Griffiths, Lyn (2011) Identification of molecular genetic factors that influence migraine. Molecular Genetics and Genomics, 285 (6), pp.433-446.
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EBV-positive DLBCL of the elderly expresses EBNA3A with conserved CD8+ T-cell epitopes.

Nguyen-Van, D., Keane, C., Han, E., Jones, K., Nourse, J. P., Vari, F., Ross, N., Crooks, P., Ramuz, O., Green, M., et al. (2011) EBV-positive DLBCL of the elderly expresses EBNA3A with conserved CD8+ T-cell epitopes.. American Journal of Blood Research, 1 (2), pp.146-159.

Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly expresses EBNA3A with conserved CD8+ T-cell epitopes

Nguyen-Van, Do, Keane, Colm, Hane, Erica, Jones, Kimberley, Nourse, Jamie, Vari, Frank, Ross, Nathan, Crooks, Pauline, Ramuz, Olivier, Green, Michael, et al. (2011) Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly expresses EBNA3A with conserved CD8+ T-cell epitopes. American Journal of Blood Research, 1 (2), pp.146-159.

Familial recurrence risks for multiple sclerosis in Australia

O'Gorman, Cullen, Freeman, Sue, Taylor, Bruce, Butzkueven, Helmut, Broadley, Simon, Griffiths, Lyn, other, and (2011) Familial recurrence risks for multiple sclerosis in Australia. Journal of Neurology, Neurosurgery and Psychiatry, 82 (12), pp.1351-1354.
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Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci

Patsopoulos, Nikolaos, de Bakker, Paul, Griffiths, Lyn, other, and (2011) Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. Annals of Neurology, 70 (6), pp.897-912.
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Significant differences in gene expression of GABA receptors in peripheral blood leukocytes of migraineurs

Plummer, Prue, Colson, Natalie, Lewohl, Joanne, MacKay, Rachel, Fernandez, Francesca, Haupt, Larisa, Griffiths, Lyn (2011) Significant differences in gene expression of GABA receptors in peripheral blood leukocytes of migraineurs. Gene, 490 (1 - 2), pp.32-36.
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Comparing genotyping algorithms for Illumina's Infinium whole-genome SNP BeadChips

Ritchie, Matthew, Liu, Ruijie, Carvalho, Benilton, Griffiths, Lyn, Irizarry, Rafael (2011) Comparing genotyping algorithms for Illumina's Infinium whole-genome SNP BeadChips. BMC Bioinformatics, 12, pp.1-12.
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Distribution of conjunctival ultraviolet autoflourescence in a population-based study : the Norfolk Island Eye Study

Sherwin, Justin, Hewitt, Alex, Kearns, Lisa, Coroneo, Minas, Griffiths, Lyn, Mackey, David (2011) Distribution of conjunctival ultraviolet autoflourescence in a population-based study : the Norfolk Island Eye Study. Eye, 25 (7), pp.893-900.
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Prevalence of chronic ocular diseases in a genetic isolate : the Norfolk Island Eye Study (NIES)

Sherwin, Justin, Kearns, Lisa, Hewitt, Alex, Ma, Yaling, Kelly, John, Griffiths, Lyn, Mackey, David (2011) Prevalence of chronic ocular diseases in a genetic isolate : the Norfolk Island Eye Study (NIES). Ophthalmic Epidemiology, 18 (2), pp.61-71.
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Prevalence and predictors of refractive error in a genetically isolated population : the Norfolk Island Eye Study

Sherwin, Justin, Kelly, John, Hewitt, Alex, Kearns, Lisa, Griffiths, Lyn, Mackey, David (2011) Prevalence and predictors of refractive error in a genetically isolated population : the Norfolk Island Eye Study. Clinical and Experimental Ophthalmology, 39 (8), pp.734-742.
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Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data

Wang, Joanne, Pappas, Derek, De Jager, Philip, Pelletier, Daniel, de Bakker, Paul, Kappos, Ludwig, Polman, Chris, Chibnik, Lori, Hafler, David, Matthews, Paul, et al. (2011) Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data. Genome Medicine, 3 (1), pp.1-11.
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Saliva-derived DNA performs well in large-scale, high-density single-nucleotide polymorphism microarray studies

Bahlo, Melanie, Stankovich, Jim, Danoy, Patrick, Hickey, Peter, Taylor, Bruce, Browning, Sharon, Brown, Matthew, Rubio, Justin, Griffiths, Lyn, other, and (2010) Saliva-derived DNA performs well in large-scale, high-density single-nucleotide polymorphism microarray studies. Cancer Epidemiology Biomarkers and Prevention, 19 (3), pp.794-799.
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A polymorphism in the HLA-DPB1 gene is associated with susceptibility to multiple sclerosis

Field, Judith, Browning, Sharon, Johnson, Laura, Danoy, Patrick, Varney, Michael, Tait, Brian, Gandhi, Kaushal, Charlesworth, Jac, Heard, Robert, Stewart, Graeme, et al. (2010) A polymorphism in the HLA-DPB1 gene is associated with susceptibility to multiple sclerosis. PLoS One, 5 (10), pp.Article number: e13454 1-7.
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Genetics of menstrual migraine : the molecular evidence

Colson, Natalie, Fernandez, Francesca, Griffiths, Lyn (2010) Genetics of menstrual migraine : the molecular evidence. Current Pain and Headache Reports, 14 (5), pp.389-395.
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Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility

Formicola, Daniela, Aloia, Andrea, Sampaolo, Simone, Farina, Olimpia, Diodato, Daria, Griffiths, Lyn, Gianfrancesco, Fernando, Di Iorio, Giuseppe, Esposito, Teresa (2010) Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility. BMC Medical Genetics, 11, pp.1-12.
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Gene expression profiling in human breast cancer – toward personalised therapeutics?

Gabrovska, Plamena, Smith, Robert, Haupt, Larisa, Griffiths, Lyn (2010) Gene expression profiling in human breast cancer – toward personalised therapeutics?. The Open Breast Cancer Journal, 2, pp.46-59.

A new method to detect loss of heterozygosity using cohort heterozygosity comparisons

Green, Michael, Jardine, Paul, Wood, Peter, Wellwood, Jeremy, Lea, Rodney, Marlton, Paula, Griffiths, Lyn (2010) A new method to detect loss of heterozygosity using cohort heterozygosity comparisons. BMC Cancer, 10, pp.1-9.
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A transcription factor map as revealed by a genome-wide gene expression analysis of whole-blood mRNA transcriptome in multiple sclerosis

Riveros, Carlos, Mellor, Drew, Gandhi, Kaushal, McKay, Fiona, Cox, Mathew, Berretta, Regina, Vaezpour, S. Yahya, Inostroza-Ponta, Mario, Broadley, Simon, Heard, Robert, et al. (2010) A transcription factor map as revealed by a genome-wide gene expression analysis of whole-blood mRNA transcriptome in multiple sclerosis. PLoS One, 5 (12), pp.1-28.
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Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients

Jensen, Cathy, Stankovich, Jim, van der Walt, Anneke, Bahlo, Melanie, Taylor, Bruce, Van der Mei, Ingrid, Foote, Simon, Kilpatrick, Trevor, Johnson, Laura, Wilkins, Ella, et al. (2010) Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients. PLoS One, 5 (4), pp.Article number: e10003 1-7.
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A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura

Lafreniere, Ronald, Cader, Zameel, Poulin, Jean-Francois, Andres-Enguix, Isabelle, Simoneau, Maryse, Gupta, Namrata, Boisvert, Karine, Lafreniere, Francois, McLaughlan, Shannon, Dube, Marie-Pierre, et al. (2010) A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura. Nature Medicine, 16 (10), pp.1157-1160.
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Analysis of the MTHFR C677T variant with migraine phenotypes

Liu, Annie, Menon, Saras, Colson, Natalie, Quinlan, Sharon, Cox, Hannah, Peterson, Madelyn, Tiang, Thomas, Haupt, Larisa, Lea, Rodney, Griffiths, Lyn (2010) Analysis of the MTHFR C677T variant with migraine phenotypes. BMC Research Notes, 3, pp.1-6.
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Shorter telomere length in peripheral blood cells associated with migraine in women

Ren, Hua, Collins, Veronica, Fernandez, Francesca, Quinlan, Sharon, Griffiths, Lyn, Choo, K.H. Andy (2010) Shorter telomere length in peripheral blood cells associated with migraine in women. Headache, 50 (6), pp.965-972.
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Investigation of the [−/A]8 and C1236T genetic variations within the human toll-like receptor 3 gene for association with multiple sclerosis

Szvetko, Attila, Jones, Ashleigh, Mackenzie, Jason, Tajouri, Lotti, Csurhes, Peter, Greer, Judith, Pender, Michael, Griffiths, Lyn (2010) Investigation of the [−/A]8 and C1236T genetic variations within the human toll-like receptor 3 gene for association with multiple sclerosis. Neurological Research, 32 (4), pp.438-441.
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European and Polynesian admixture in the Norfolk Island population

McEvoy, Brian, Zhao, Zhen Zhen, Macgregor, Stuart, Bellis, Claire, Lea, Rodney, Cox, Hannah, Montgomery, Grant, Griffiths, Lyn, Visscher, Peter (2010) European and Polynesian admixture in the Norfolk Island population. Heredity, 105 (2), pp.229-234.
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Current status of pharmacogenomics testing for anti-tumor drug therapies : approaches to non-melanoma skin cancer

Grealy, Rebecca, Griffiths, Lyn (2009) Current status of pharmacogenomics testing for anti-tumor drug therapies : approaches to non-melanoma skin cancer. Molecular Diagnosis and Therapy, 13 (2), pp.65-72.
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The heparan sulfate proteoglycan (HSPG) glypican-3 mediates commitment of MC3T3-E1 cells toward osteogenesis

Haupt, Larisa, Murali, Sadasivam, Mun, Foong, Teplyuk, Nadiya, Mei, Leong, Stein, Gary, Van Wijnen, Andre, Nurcombe, Victor, Cool, Simon (2009) The heparan sulfate proteoglycan (HSPG) glypican-3 mediates commitment of MC3T3-E1 cells toward osteogenesis. Journal of Cellular Physiology, 220 (3), pp.780-791.
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The osteogenic transcription factor Runx2 regulates components of the fibroblast growth factor/proteoglycan signaling axis in osteoblasts

Teplyuk, Nadiya, Haupt, Larisa, Ling, Ling, Dombrowski, Christian, Kin Mun, Foong, Nathan, Saminathan, Lian, Jane, Stein, Janet, Stein, Gary, Cool, Simon, et al. (2009) The osteogenic transcription factor Runx2 regulates components of the fibroblast growth factor/proteoglycan signaling axis in osteoblasts. Journal of Cellular Biochemistry, 107 (1), pp.144-154.
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Heparan sulfate proteoglycans, tumour progression and the cancer stem cell niche

Haupt, Larisa, Griffiths, Lyn (2009) Heparan sulfate proteoglycans, tumour progression and the cancer stem cell niche. Current Cancer Therapy Reviews, 5 (4), pp.256-260.
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Novel NOD2 haplotype strengthens the association between TLR4 Asp299gly and Crohnʼs disease in an Australian population

Hume, Georgia, Fowler, Elizabeth, Doecke, James, Simms, Lisa, Huang, Ning, Palmieri, Orazio, Griffiths, Lyn, Florin, Timothy, Annese, Vito, Radford-Smith, Graham (2008) Novel NOD2 haplotype strengthens the association between TLR4 Asp299gly and Crohnʼs disease in an Australian population. Inflammatory Bowel Diseases, 14 (5), pp.585-590.
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Immunodeficiency-associated lymphomas

Tran, Huy, Nourse, Jamie, Hall, Sara, Green, Michael, Griffiths, Lyn, Gandhi, Maher (2008) Immunodeficiency-associated lymphomas. Blood Reviews, 22 (5), pp.261-281.
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G9a histone methyltransferase contributes to imprinting in the mouse placenta

Wagschal, Alexandre, Sutherland, Heidi, Woodfine, Kathryn, Henckel, Amandine, Chebli, Karim, Schulz, Reiner, Oakey, Rebecca, Bickmore, Wendy, Feil, Robert (2008) G9a histone methyltransferase contributes to imprinting in the mouse placenta. Molecular and Cellular Biology, 28 (3), pp.1104-1113.
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In vitro and in vivo MMP gene expression localisation by In Situ-RT-PCR in cell culture and paraffin embedded human breast cancer cell line xenografts

Haupt, Larisa, Thompson, Rik, Trezise, Ann, Irving, Rachel, Irving, Michael, Griffiths, Lyn (2006) In vitro and in vivo MMP gene expression localisation by In Situ-RT-PCR in cell culture and paraffin embedded human breast cancer cell line xenografts. BMC Cancer, 6, pp.1-10.
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Critique of "sibpair studies implicate chromosome 18 in essential hypertension" by S. Rutherford, M.P. Johnson, and L.R. Griffiths. 2004. Am J Med Genet 126A:241-247

Griffiths, Lyn R., Morris, Brian J. (2005) Critique of "sibpair studies implicate chromosome 18 in essential hypertension" by S. Rutherford, M.P. Johnson, and L.R. Griffiths. 2004. Am J Med Genet 126A:241-247. American Journal of Medical Genetics Part A, 132A (4), pp.456-457.
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Genetic variants of angiotensin converting enzyme and methylenetetrahydrofolate reductase may act in combination to increase migraine susceptibility

Lea, Rodney, Ovcaric, Mick, Sundholm, James, Solyom, Leah, Macmillan, John, Griffiths, Lyn (2005) Genetic variants of angiotensin converting enzyme and methylenetetrahydrofolate reductase may act in combination to increase migraine susceptibility. Molecular Brain Research, 136 (1 - 2), pp.112-117.
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Loss of chromosomal integrity in human mammary epithelial cells subsequent to escape from senescence

Tlsty, Thea D., Romanov, Serguei R., Kozakiewicz, B. Krystyna, Holst, Charles R., Haupt, Larisa M., Crawford, Yongping G. (2001) Loss of chromosomal integrity in human mammary epithelial cells subsequent to escape from senescence. Journal of Mammary Gland Biology and Neoplasia, 6 (2), pp.235-243.

Normal human mammary epithelial cells spontaneously escape senescence and acquire genomic changes

Romanov, Serguei R., Kozakiewicz, B. Krystyna, Holst, Charles R., Stampfer, Martha R., Haupt, Larisa M., Tlsty, Thea D. (2001) Normal human mammary epithelial cells spontaneously escape senescence and acquire genomic changes. Nature, 409 (6820), pp.633-637.
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Cross-sectional study of a microsatellite marker in the low density lipoprotein receptor gene in obese normotensives

Griffiths, Lyn R., Nyholt, Dale R., Curtain, Robert P., Gaffney, Philip T., Morris, Brian J. (1995) Cross-sectional study of a microsatellite marker in the low density lipoprotein receptor gene in obese normotensives. Clinical and Experimental Pharmacology and Physiology, 22 (6-7), pp.496-498.
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