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2025

Journal Article

Validation of self-reported endometriosis

Gete, Dereje G., Dobson, Annette J., Mortlock, Sally, Montgomery, Grant W., Hockey, Richard, Doust, Jenny and Mishra, Gita D. (2025). Validation of self-reported endometriosis. Maturitas, 199 108642, 108642-199. doi: 10.1016/j.maturitas.2025.108642

Validation of self-reported endometriosis

2025

Journal Article

The influence of genetics on the endocannabinoid system gene expression and relevance for targeting reproductive conditions

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 (2025). The influence of genetics on the endocannabinoid system gene expression and relevance for targeting reproductive conditions. Journal of Cannabis Research, 7 (1) 29, 1-13. doi: 10.1186/s42238-025-00275-x

The influence of genetics on the endocannabinoid system gene expression and relevance for targeting reproductive conditions

2025

Journal Article

Interaction between genetic risk and comorbid conditions in endometriosis

McGrath, Isabelle M., Rukins, Valentina, Laisk, Triin, Mortlock, Sally and Montgomery, Grant W. (2025). Interaction between genetic risk and comorbid conditions in endometriosis. Human Genetics and Genomics Advances, 6 (3) 100456, 100456-3. doi: 10.1016/j.xhgg.2025.100456

Interaction between genetic risk and comorbid conditions in endometriosis

2025

Journal Article

Methylation Risk Score Modelling in Endometriosis: Evidence for Non-Genetic DNA Methylation Effects in a Case–Control Study

Thong, Li Ying, McRae, Allan F., Sirota, Marina, Giudice, Linda, Montgomery, Grant W. and Mortlock, Sally (2025). Methylation Risk Score Modelling in Endometriosis: Evidence for Non-Genetic DNA Methylation Effects in a Case–Control Study. International Journal of Molecular Sciences, 26 (8) 3760, 3760. doi: 10.3390/ijms26083760

Methylation Risk Score Modelling in Endometriosis: Evidence for Non-Genetic DNA Methylation Effects in a Case–Control Study

2024

Journal Article

Endometrial cell-type specific regulation of the endocannabinoids system and the impact of menstrual cycle and endometriosis

Tanaka, Keisuke, Subramaniam, Sugarniya, Atluri, Sharat, Amoako, Akwasi A., Mortlock, Sally, Montgomery, Grant W. and McKinnon, Brett (2024). Endometrial cell-type specific regulation of the endocannabinoids system and the impact of menstrual cycle and endometriosis. Cannabis and Cannabinoid Research. doi: 10.1089/can.2024.0081

Endometrial cell-type specific regulation of the endocannabinoids system and the impact of menstrual cycle and endometriosis

2024

Journal Article

Risk of iron deficiency in women with endometriosis: a population-based prospective cohort study

Gete, Dereje G., Doust, Jenny, Mortlock, Sally, Montgomery, Grant and Mishra, Gita D. (2024). Risk of iron deficiency in women with endometriosis: a population-based prospective cohort study. Women's Health Issues, 34 (3), 317-324. doi: 10.1016/j.whi.2024.03.004

Risk of iron deficiency in women with endometriosis: a population-based prospective cohort study

2024

Journal Article

Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity

Mbarek, Hamdi, Gordon, Scott D., Duffy, David L., Hubers, Nikki, Mortlock, Sally, Beck, Jeffrey J., Hottenga, Jouke-Jan, Pool, René, Dolan, Conor V., Actkins, Ky’Era V., Gerring, Zachary F., Van Dongen, Jenny, Ehli, Erik A., Iacono, William G., Mcgue, Matt, Chasman, Daniel I., Gallagher, C. Scott, Schilit, Samantha L. P., Morton, Cynthia C., Paré, Guillaume, Willemsen, Gonneke, Whiteman, David C., Olsen, Catherine M., Derom, Catherine, Vlietinck, Robert, Gudbjartsson, Daniel, Cannon-Albright, Lisa, Krapohl, Eva, Plomin, Robert ... Martin, Nicholas G. (2024). Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity. Human Reproduction, 39 (1), 240-257. doi: 10.1093/humrep/dead247

Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity

2023

Journal Article

Genomic analysis of lymphoma risk in Bullmastiff dogs

Mortlock, Sally A., Asada, Monica C., Soh, Pamela Xing Yi, Hsu, Wei-Tse, Lee, Carol, Bennett, Peter F., Taylor, Rosanne M., Khatkar, Mehar S. and Williamson, Peter (2023). Genomic analysis of lymphoma risk in Bullmastiff dogs. Veterinary Sciences, 10 (12) 703, 1-14. doi: 10.3390/vetsci10120703

Genomic analysis of lymphoma risk in Bullmastiff dogs

2023

Journal Article

Polygenic risk score phenome-wide association study reveals an association between endometriosis and testosterone

McGrath, Isabelle M., Montgomery, Grant W., Mortlock, Sally and International Endometriosis Genetics Consortium (2023). Polygenic risk score phenome-wide association study reveals an association between endometriosis and testosterone. BMC Medicine, 21 (1) 482, 1-14. doi: 10.1186/s12916-023-03184-z

Polygenic risk score phenome-wide association study reveals an association between endometriosis and testosterone

2023

Journal Article

Gene expression profiles separate endometriosis lesion subtypes and indicate a sensitivity of endometrioma to estrogen suppressive treatments through elevated ESR2 expression

Marla, Sushma, Mortlock, Sally, Heinosalo, Taija, Poutanen, Matti, Montgomery, Grant W. and McKinnon, Brett David (2023). Gene expression profiles separate endometriosis lesion subtypes and indicate a sensitivity of endometrioma to estrogen suppressive treatments through elevated ESR2 expression. BMC Medicine, 21 (1) 460, 1-15. doi: 10.1186/s12916-023-03166-1

Gene expression profiles separate endometriosis lesion subtypes and indicate a sensitivity of endometrioma to estrogen suppressive treatments through elevated ESR2 expression

2023

Journal Article

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, 229 (5), 536.e1-536.e20. doi: 10.1016/j.ajog.2023.07.033

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

2023

Journal Article

A molecular staging model for accurately dating the endometrial biopsy

Teh, W. T., Chung, J., Holdsworth-Carson, S. J., Donoghue, J. F., Healey, M., Rees, H. C., Bittinger, S., Obers, V., Sloggett, C., Kendarsari, R., Fung, J. N., Mortlock, S., Montgomery, G. W., Girling, J. E. and Rogers, P. A. W. (2023). A molecular staging model for accurately dating the endometrial biopsy. Nature Communications, 14 (1) 6222, 6222. doi: 10.1038/s41467-023-41979-z

A molecular staging model for accurately dating the endometrial biopsy

2023

Journal Article

A common genetic factor underlies genetic risk for gynaecological and reproductive disorders and is correlated with risk to depression

Kiewa, Jacqueline, Mortlock, Sally, Meltzer-Brody, Samantha, Middeldorp, Christel, Wray, Naomi R. and Byrne, Enda M. (2023). A common genetic factor underlies genetic risk for gynaecological and reproductive disorders and is correlated with risk to depression. Neuroendocrinology, 113 (10), 1059-1075. doi: 10.1159/000533413

A common genetic factor underlies genetic risk for gynaecological and reproductive disorders and is correlated with risk to depression

2023

Journal Article

Evidence of shared genetic factors in the etiology of gastrointestinal disorders and endometriosis and clinical implications for disease management

Yang, Fei, Wu, Yeda, Hockey, Richard, International Endometriosis Genetics Consortium, Doust, Jenny, Mishra, Gita D., Montgomery, Grant W. and Mortlock, Sally (2023). Evidence of shared genetic factors in the etiology of gastrointestinal disorders and endometriosis and clinical implications for disease management. Cell Reports Medicine, 4 (11) 101250, 1-20. doi: 10.1016/j.xcrm.2023.101250

Evidence of shared genetic factors in the etiology of gastrointestinal disorders and endometriosis and clinical implications for disease management

2023

Journal Article

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

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

2023

Journal Article

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, 1-17. doi: 10.1038/s42003-023-05070-z

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

2023

Journal Article

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

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

2023

Journal Article

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

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

2023

Journal Article

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

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

2023

Journal Article

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

New concepts on the etiology of endometriosis