The University of Queensland

Global endometrial DNA methylation analysis reveals insights into mQTL regulation and associated endometriosis disease risk and endometrial function

Mortlock, Sally, Houshdaran, Sahar, Kosti, Idit, Rahmioglu, Nilufer, Nezhat, Camran, Vitonis, Allison F., Andrews, Shan V., Grosjean, Parker, Paranjpe, Manish, Horne, Andrew W., Jacoby, Alison, Lager, Jeannette, Opoku-Anane, Jessica, Vo, Kim Chi, Manvelyan, Evelina, Sen, Sushmita, Ghukasyan, Zhanna, Collins, Frances, Santamaria, Xavier, Saunders, Philippa, Kober, Kord, McRae, Allan F., Terry, Kathryn L., Vallvé-Juanico, Júlia, Becker, Christian, Rogers, Peter A. W., Irwin, Juan C., Zondervan, Krina, Montgomery, Grant W. ... Giudice, Linda (2023). Global endometrial DNA methylation analysis reveals insights into mQTL regulation and associated endometriosis disease risk and endometrial function. Communications Biology, 6 (1) 780. doi: 10.1038/s42003-023-05070-z

Associations between endometriosis and common symptoms: findings from the Australian Longitudinal Study on Women’s Health

Gete, Dereje G., Doust, Jenny, Mortlock, Sally, Montgomery, Grant and Mishra, Gita D. (2023). Associations between endometriosis and common symptoms: findings from the Australian Longitudinal Study on Women’s Health. American Journal of Obstetrics and Gynecology. doi: 10.1016/j.ajog.2023.07.033

Genomic characterisation of the overlap of endometriosis with 76 comorbidities identifies pleiotropic and causal mechanisms underlying disease risk

McGrath, Isabelle M., Montgomery, Grant W., Mortlock, Sally and International Endometriosis Genetics Consortium (2023). Genomic characterisation of the overlap of endometriosis with 76 comorbidities identifies pleiotropic and causal mechanisms underlying disease risk. Human Genetics, 142 (9), 1345-1360. doi: 10.1007/s00439-023-02582-w

Global analysis of transcription start sites and enhancers in endometrial stromal cells and differences associated with endometriosis

Marla, Sushma, Mortlock, Sally, Yoon, Sohye, Crawford, Joanna, Andersen, Stacey, Mueller, Michael D., McKinnon, Brett, Nguyen, Quan and Montgomery, Grant W. (2023). Global analysis of transcription start sites and enhancers in endometrial stromal cells and differences associated with endometriosis. Cells, 12 (13) 1736, 1-22. doi: 10.3390/cells12131736

Insights from Mendelian randomization and genetic correlation analyses into the relationship between endometriosis and its comorbidities

McGrath, Isabelle M, Montgomery, Grant W and Mortlock, Sally (2023). Insights from Mendelian randomization and genetic correlation analyses into the relationship between endometriosis and its comorbidities. Human Reproduction Update, 29 (5), 655-674. doi: 10.1093/humupd/dmad009

Impact of endometriosis on women's health-related quality of life: A national prospective cohort study

Gete, Dereje G., Doust, Jenny, Mortlock, Sally, Montgomery, Grant and Mishra, Gita D. (2023). Impact of endometriosis on women's health-related quality of life: A national prospective cohort study. Maturitas, 174, 1-7. doi: 10.1016/j.maturitas.2023.04.272

New concepts on the etiology of endometriosis

Cousins, Fiona L., McKinnon, Brett D., Mortlock, Sally, Fitzgerald, Harriet C., Zhang, Chenyu, Montgomery, Grant W. and Gargett, Caroline E. (2023). New concepts on the etiology of endometriosis. Journal of Obstetrics and Gynaecology Research, 49 (4), 1090-1105. doi: 10.1111/jog.15549

The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions

Rahmioglu, Nilufer, Mortlock, Sally, Ghiasi, Marzieh, Møller, Peter L., Stefansdottir, Lilja, Galarneau, Geneviève, Turman, Constance, Danning, Rebecca, Law, Matthew H., Sapkota, Yadav, Christofidou, Paraskevi, Skarp, Sini, Giri, Ayush, Banasik, Karina, Krassowski, Michal, Lepamets, Maarja, Marciniak, Błażej, Nõukas, Margit, Perro, Danielle, Sliz, Eeva, Sobalska-Kwapis, Marta, Thorleifsson, Gudmar, Topbas-Selcuki, Nura F., Vitonis, Allison, Westergaard, David, Arnadottir, Ragnheidur, Burgdorf, Kristoffer S., Campbell, Archie, Cheuk, Cecilia S. K. ... The 23andMe Research Team (2023). The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions. Nature Genetics, 55 (3), 423-436. doi: 10.1038/s41588-023-01323-z

An extremes of phenotype approach confirms significant genetic heterogeneity in patients with ulcerative colitis

Mortlock, Sally, Lord, Anton, Montgomery, Grant, Zakrzewski, Martha, Simms, Lisa A, Krishnaprasad, Krupa, Hanigan, Katherine, Doecke, James D, Walsh, Alissa, Lawrance, Ian C, Bampton, Peter A, Andrews, Jane M, Mahy, Gillian, Connor, Susan J, Sparrow, Miles P, Bell, Sally, Florin, Timothy H., Begun, Jakob, Gearry, Richard B and Radford-Smith, Graham L. (2023). An extremes of phenotype approach confirms significant genetic heterogeneity in patients with ulcerative colitis. Journal of Crohn's and Colitis, 17 (2), 277-288. doi: 10.1093/ecco-jcc/jjac121

Clinical characteristics and surgical management of endometriosis‐associated infertility: A multicenter prospective cohort study

Bhurke, Aishwarya V., DasMahapatra, Pramathes, Balakrishnan, Sheila, Khan, Shagufta A., Mortlock, Sally, Das, Vinita, Chellamma, Nirmala, Cheruvara Vadakkathil, Sowmini, Srivastava, Aarti, Majumdar, Amiya, Pasi, Achhelal, Sachdeva, Geetanjali, Montgomery, Grant W. and Gajbhiye, Rahul K. (2022). Clinical characteristics and surgical management of endometriosis‐associated infertility: A multicenter prospective cohort study. International Journal of Gynecology & Obstetrics, 159 (1), 86-96. doi: 10.1002/ijgo.14115

Protocol for the Endometriosis Research Queensland Study (ERQS): an integrated cohort study approach to improve diagnosis and stratify treatment

Tanaka, Keisuke, Gilroy, Deborah, Subramaniam, Sugarniya, Lakshmi, Preethi, Bhadravathi Lokeshappa, Madhura, Wallace, Leanne M., Atluri, Sharat, Schmidt, Bart, Ganter, Peter, Baartz, David, Smith, Matthew, Mortlock, Sally, Henders, Anjali, Khalil, Akram, Montgomery, Grant, McKinnon, Brett and Amoako, Akwasi (2022). Protocol for the Endometriosis Research Queensland Study (ERQS): an integrated cohort study approach to improve diagnosis and stratify treatment. BMJ Open, 12 (10) e064073, 1-10. doi: 10.1136/bmjopen-2022-064073

Author correction: Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis

Gallagher, C. S., Mäkinen, N., Harris, H. R., Rahmioglu, N., Uimari, O., Cook, J. P., Shigesi, N., Ferreira, T., Velez-Edwards, D. R., Edwards, T. L., Mortlock, S., Ruhioglu, Z., Day, F., Becker, C. M., Karhunen, V., Martikainen, H., Järvelin, M.-R., Cantor, R. M., Ridker, P. M., Terry, K. L., Buring, J. E., Gordon, S. D., Medland, S. E., Montgomery, G. W., Nyholt, D. R., Hinds, D. A., Tung, J. Y., Agee, Michelle, Alipanahi, Babak ... the 23andMe Research Team (2022). Author correction: Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis. Nature Communications, 13 (1) 5543, 5543. doi: 10.1038/s41467-022-33222-y

Altered differentiation of endometrial mesenchymal stromal fibroblasts is associated with endometriosis susceptibility

McKinnon, Brett D., Lukowski, Samuel W., Mortlock, Sally, Crawford, Joanna, Atluri, Sharat, Subramaniam, Sugarniya, Johnston, Rebecca L., Nirgianakis, Konstantinos, Tanaka, Keisuke, Amoako, Akwasi, Mueller, Michael D. and Montgomery, Grant W. (2022). Altered differentiation of endometrial mesenchymal stromal fibroblasts is associated with endometriosis susceptibility. Communications Biology, 5 (1) 600, 600. doi: 10.1038/s42003-022-03541-3

Gene expression of the endocannabinoid system in endometrium through menstrual cycle

Tanaka, Keisuke, Amoako, Akwasi A., Mortlock, Sally, Rogers, Peter A. W., Holdsworth-Carson, Sarah J., Donoghue, Jacqueline F., Teh, Wan Tinn, Montgomery, Grant W. and McKinnon, Brett (2022). Gene expression of the endocannabinoid system in endometrium through menstrual cycle. Scientific Reports, 12 (1) 9400, 9400. doi: 10.1038/s41598-022-13488-4

A multi-level investigation of the genetic relationship between endometriosis and ovarian cancer histotypes

Mortlock, Sally, Corona, Rosario I., Kho, Pik Fang, Pharoah, Paul, Seo, Ji-Heui, Freedman, Matthew L., Gayther, Simon A., Siedhoff, Matthew T., Rogers, Peter A.W., Leuchter, Ronald, Walsh, Christine S., Cass, Ilana, Karlan, Beth Y., Rimel, B.J., Montgomery, Grant W., Lawrenson, Kate and Kar, Siddhartha P. (2022). A multi-level investigation of the genetic relationship between endometriosis and ovarian cancer histotypes. Cell Reports Medicine, 3 (3) 100542, 100542. doi: 10.1016/j.xcrm.2022.100542

Comparison of organoids from menstrual fluid and hormone-treated endometrium: novel tools for gynecological research

Filby, Caitlin E., Wyatt, Katherine A., Mortlock, Sally, Cousins, Fiona L., McKinnon, Brett, Tyson, Kate E., Montgomery, Grant W. and Gargett, Caroline E. (2021). Comparison of organoids from menstrual fluid and hormone-treated endometrium: novel tools for gynecological research. Journal of Personalized Medicine, 11 (12) 1314. doi: 10.3390/jpm11121314

Genetic analyses of gynecological disease identify genetic relationships between uterine fibroids and endometrial cancer, and a novel endometrial cancer genetic risk region at the WNT4 1p36.12 locus

Kho, Pik Fang, Mortlock, Sally, Endometrial Cancer Association Consortium , International Endometriosis Genetics Consortium, Rogers, Peter A. W., Nyholt, Dale R., Montgomery, Grant W., Spurdle, Amanda B., Glubb, Dylan M. and O'Mara, Tracy A. (2021). Genetic analyses of gynecological disease identify genetic relationships between uterine fibroids and endometrial cancer, and a novel endometrial cancer genetic risk region at the WNT4 1p36.12 locus. Human Genetics, 140 (9), 1353-1365. doi: 10.1007/s00439-021-02312-0

Genetic Relationship Between Endometriosis and Melanoma

Yang, Fei, Mortlock, Sally, MacGregor, Stuart, Iles, Mark M., Landi, Maria Teresa, Shi, Jianxin, Law, Matthew H., Montgomery, Grant W. and on behalf of The International Endometriosis Genetics Consortium (2021). Genetic Relationship Between Endometriosis and Melanoma. Frontiers in Reproductive Health, 3 711123, 1-10. doi: 10.3389/frph.2021.711123

Genetic regulation of physiological reproductive lifespan and female fertility

McGrath, Isabelle M., Mortlock, Sally and Montgomery, Grant W. (2021). Genetic regulation of physiological reproductive lifespan and female fertility. International Journal of Molecular Sciences, 22 (5) 2556, 1-13. doi: 10.3390/ijms22052556

Elucidating the role of long intergenic non-coding RNA 339 in human endometrium and endometriosis

Holdsworth-Carson, Sarah J., Churchill, Molly, Donoghue, Jacqueline F., Mortlock, Sally, Fung, Jenny N., Sloggett, Clare, Chung, Jessica, Cann, Leonie, Teh, Wan Tinn, Campbell, Katie-Rose, Luwor, Rodney, Healey, Martin, Montgomery, Grant, Girling, Jane E. and Rogers, Peter A. W. (2021). Elucidating the role of long intergenic non-coding RNA 339 in human endometrium and endometriosis. Molecular Human Reproduction, 27 (3) gaab010. doi: 10.1093/molehr/gaab010

Genetic regulation of transcription in the endometrium in health and disease

Mortlock, Sally, McKinnon, Brett and Montgomery, Grant W. (2021). Genetic regulation of transcription in the endometrium in health and disease. Frontiers in Reproductive Health, 3 795464. doi: 10.3389/frph.2021.795464

Genetic risk factors for endometriosis near estrogen receptor 1 and coexpression of genes in this region in endometrium

Marla, S., Mortlock, S., Houshdaran, S., Fung, J., McKinnon, B., Holdsworth-Carson, S. J., Girling, J. E., Rogers, P. A. W., Giudice, L. C. and Montgomery, G. W. (2021). Genetic risk factors for endometriosis near estrogen receptor 1 and coexpression of genes in this region in endometrium. Molecular Human Reproduction, 27 (1) gaaa082. doi: 10.1093/molehr/gaaa082

Author's reply

Montgomery, Grant W., Mortlock, Sally and Giudice, Linda C. (2020). Author's reply. Journal of Minimally Invasive Gynecology, 27 (6), 1427. doi: 10.1016/j.jmig.2020.04.021

Tissue specific regulation of transcription in endometrium and association with disease

Mortlock, Sally, Kendarsari, Raden I., Fung, Jenny N., Gibson, Greg, Yang, Fei, Restuadi, Restuadi, Girling, Jane E., Holdsworth-Carson, Sarah J., Teh, Wan Tinn, Lukowski, Samuel W., Healey, Martin, Qi, Ting, Rogers, Peter A. W., Yang, Jian, McKinnon, Brett and Montgomery, Grant W. (2020). Tissue specific regulation of transcription in endometrium and association with disease. Human Reproduction, 35 (2), 377-393. doi: 10.1093/humrep/dez279

Obesity does not alter endometrial gene expression in women with endometriosis

Holdsworth-Carson, Sarah J, Chung, Jessica, Sloggett, Clare, Mortlock, Sally, Fung, Jenny N., Montgomery, Grant W., Dior, Uri P., Healey, Martin, Rogers, Peter A.W. and Girling, Jane E. (2020). Obesity does not alter endometrial gene expression in women with endometriosis. Reproductive BioMedicine Online, 41 (1), 113-118. doi: 10.1016/j.rbmo.2020.03.015

The role of the endocannabinoid system in aetiopathogenesis of endometriosis: a potential therapeutic target

Tanaka, Keisuke, Mayne, Leah, Khalil, Akram, Baartz, David, Eriksson, Lars, Mortlock, Sally-Anne, Montgomery, Grant, McKinnon, Brett and Amoako, Akwasi A. (2020). The role of the endocannabinoid system in aetiopathogenesis of endometriosis: a potential therapeutic target. European Journal of Obstetrics and Gynecology and Reproductive Biology, 244, 87-94. doi: 10.1016/j.ejogrb.2019.11.012

Genotype-free demultiplexing of pooled single-cell RNA-seq

Xu, Jun, Falconer, Caitlin, Nguyen, Quan, Crawford, Joanna, McKinnon, Brett D., Mortlock, Sally, Senabouth, Anne, Andersen, Stacey, Chiu, Han Sheng, Jiang, Longda, Palpant, Nathan J., Yang, Jian, Mueller, Michael D., Hewitt, Alex W., Pébay, Alice, Montgomery, Grant W., Powell, Joseph E. and Coin, Lachlan J. M. (2019). Genotype-free demultiplexing of pooled single-cell RNA-seq. Genome Biology, 20 (1) 290, 290. doi: 10.1186/s13059-019-1852-7

Should genetics now be considered the pre-eminent etiologic factor in endometriosis?

Montgomery, Grant W., Mortlock, Sally and Giudice, Linda C. (2019). Should genetics now be considered the pre-eminent etiologic factor in endometriosis?. Journal of Minimally Invasive Gynecology, 27 (2), 280-286. doi: 10.1016/j.jmig.2019.10.020

Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis

Gallagher, C. S., Mäkinen, N., Harris, H. R., Rahmioglu, N., Uimari, O., Cook, J. P., Shigesi, N., Ferreira, T., Velez-Edwards, D. R., Edwards, T. L., Mortlock, S., Ruhioglu, Z., Day, F., Becker, C. M., Karhunen, V., Martikainen, H., Järvelin, M.-R., Cantor, R. M., Ridker, P. M., Terry, K. L., Buring, J. E., Gordon, S. D., Medland, S. E., Montgomery, G. W., Nyholt, D. R., Hinds, D. A., Tung, J. Y., Perry, J. R. B., Lind, P. A. ... Morton, C. C. (2019). Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis. Nature Communications, 10 (1) 4857, 4857. doi: 10.1038/s41467-019-12536-4

Genome-wide association studies of 74 plasma metabolites of German shepherd dogs reveal two metabolites associated with genes encoding their enzymes

Soh, Pamela Xing Yi, Marin Cely, Juliana Maria, Mortlock, Sally-Anne, Jara, Christopher James, Booth, Rachel, Natera, Siria, Roessner, Ute, Crossett, Ben, Cordwell, Stuart, Singh Khatkar, Mehar and Williamson, Peter (2019). Genome-wide association studies of 74 plasma metabolites of German shepherd dogs reveal two metabolites associated with genes encoding their enzymes. Metabolomics, 15 (9) 123, 123. doi: 10.1007/s11306-019-1586-2

Genetic regulation of methylation in human endometrium and blood and gene targets for reproductive diseases

Mortlock, Sally, Restuadi, Restuadi, Levien, Rupert, Girling, Jane E., Holdsworth-Carson, Sarah J., Healey, Martin, Zhu, Zhihong, Qi, Ting, Wu, Yang, Lukowski, Samuel W., Rogers, Peter A. W., Yang, Jian, McRae, Allan F., Fung, Jenny N. and Montgomery, Grant W. (2019). Genetic regulation of methylation in human endometrium and blood and gene targets for reproductive diseases. Clinical Epigenetics, 11 (1) 49, 49. doi: 10.1186/s13148-019-0648-7

Copy number variation and variant discovery in Bullmastiff dogs

Mortlock, S.-A., Williamson, P. and Khatkar, M. S. (2019). Copy number variation and variant discovery in Bullmastiff dogs. Animal Genetics, 50 (2) age.12754, 177-181. doi: 10.1111/age.12754

Generation of immortalized human endometrial stromal cell lines with different endometriosis risk genotypes

Holdsworth-Carson, S. J., Colgrave, E. M., Donoghue, J. F., Fung, J. N., Churchill, M. L., Mortlock, S., Paiva, P., Healey, M., Montgomery, G. W., Girling, J. E. and Rogers, P. A. W. (2019). Generation of immortalized human endometrial stromal cell lines with different endometriosis risk genotypes. MHR: Basic science of reproductive medicine, 25 (4), 194-205. doi: 10.1093/molehr/gaz006

Genetic regulation of disease risk and endometrial gene expression highlights potential target genes for endometriosis and polycystic ovarian syndrome

Fung, Jenny N., Mortlock, Sally, Girling, Jane E., Holdsworth-Carson, Sarah J., Teh, Wan Tinn, Zhu, Zhihong, Lukowski, Samuel W., McKinnon, Brett D., McRae, Allan, Yang, Jian, Healey, Martin, Powell, Joseph E., Rogers, Peter A. W. and Montgomery, Grant W (2018). Genetic regulation of disease risk and endometrial gene expression highlights potential target genes for endometriosis and polycystic ovarian syndrome. Scientific Reports, 8 (1) 11424, 11424. doi: 10.1038/s41598-018-29462-y

Genetic Variation at Chromosome 2q13 and Its Potential Influence on Endometriosis Susceptibility Through Effects on the IL-1 Family

Gajbhiye, Rahul, McKinnon, Brett, Mortlock, Sally, Mueller, Michael and Montgomery, Grant (2018). Genetic Variation at Chromosome 2q13 and Its Potential Influence on Endometriosis Susceptibility Through Effects on the IL-1 Family. Reproductive Sciences, 25 (9), 1933719118768688-1317. doi: 10.1177/1933719118768688

Visualization of genome diversity in german shepherd dogs

Mortlock, Sally-Anne, Booth, Rachel, Mazrier, Hamutal, Khatkar, Mehar S. and Williamson, Peter (2016). Visualization of genome diversity in german shepherd dogs. Bioinformatics and Biology Insights, 9, 37-42. doi: 10.4137/BBI.S30524

Comparative analysis of genome diversity in bullmastiff dogs

Mortlock, Sally-Anne, Khatkar, Mehar S. and Williamson, Peter (2016). Comparative analysis of genome diversity in bullmastiff dogs. PLoS One, 11 (1) e0147941, e0147941. doi: 10.1371/journal.pone.0147941

T-cell activation and early gene response in dogs

Mortlock, Sally-Anne, Wei, Jerry and Williamson, Peter (2015). T-cell activation and early gene response in dogs. PLoS One, 10 (3) e0121169, e0121169. doi: 10.1371/journal.pone.0121169

Cluster Analysis of Tumor Suppressor Genes in Canine Leukocytes Identifies Activation State

Daly, Julie-Anne, Mortlock, Sally-Anne, Taylor, Rosanne M. and Williamson, Peter (2015). Cluster Analysis of Tumor Suppressor Genes in Canine Leukocytes Identifies Activation State. Bioinformatics and Biology Insights, 9 (S2), 59-67. doi: 10.4137/BBI.S30523

Comparison of Organoids from Menstrual Fluid and Endometrium from Women Taking Hormonal Medication: Potential for Modelling Endometriosis

Filby, Caitlin E., Wyatt, Katherine A., Mortlock, Sally, Cousins, Fiona L., McKinnon, Brett, Tyson, Kate, Montgomery, Grant W. and Gargett, Caroline E. (2022). Comparison of Organoids from Menstrual Fluid and Endometrium from Women Taking Hormonal Medication: Potential for Modelling Endometriosis. 69th Annual Meeting of the Society for Reproductive Investigation SRI 2022, Denver, CO United States, 15-19 March 2022. Heidelberg, Germany: Springer.

Genetic Relationship Between Endometriosis and Ovarian Cancer Subtypes

Mortlock, Sally, Lawrenson, Kate, Gayther, Simon, Macgregor, Stuart, Pharoah, Paul, Montgomery, Grant and Kar, Siddhartha (2020). Genetic Relationship Between Endometriosis and Ovarian Cancer Subtypes. 67th Annual Scientific Meeting of the Society-for-Reproductive-Investigation (SRI), Vancouver, Canada, 10-14 March 2020. Heidelberg, Germany: Springer.

Identifying Target Genes for Endometriosis through Integration of Genetic Effects on Transcription and Methylation in Human Endometrium

Mortlock, Sally, Fung, Jenny N., Girling, Jane E., Holdsworth-Carson, Sarah J., Healey, Martin, Lukowski, Samuel W., McKinnon, Brett D., Yang, Jian, McRae, Allan, Rogers, Peter A. W. and Montgomery, Grant W. (2019). Identifying Target Genes for Endometriosis through Integration of Genetic Effects on Transcription and Methylation in Human Endometrium. 66th Annual Scientific Meeting of the Society for Reproductive Investigation (SRI), Paris, France, 12-16 March 2019. Thousand Oaks, CA, United States: Sage.

Dynamic changes in gene regulation in human endometrium

Fung, Jenny N., Mortlock, Sally, Girling, Jane E., Holdsworth-Carson, Sarah J., Teh, Wan Tinn, Healey, Martin, Rogers, Peter A. W. and Montgomery, Grant W. (2018). Dynamic changes in gene regulation in human endometrium. 65th Annual Scientific Meeting of the Society for Reproductive Investigation (SRI), San Diego CA, United States, 6-10 March 2018. Thousand Oaks, CA United States: Sage Publications.