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2026

Journal Article

Genome-wide association analysis of endometriosis in Indian women supports shared genetic susceptibility and suggestive population specific signals

Anand, Sandhya, Munshi, Hrishikesh, Shekhar, Shashank, Shembekar, Chaitanya, Sankhwar, Pushp Lata, Bagde, Nilajkumar, DasMahapatra, Pramathes, Phukan, Pranay, John, Bimal, Shah, Milind, Kale, Deepali, Kulkarni, Ketki, Mahobia, Swati, Mahajan, Niraj, Humane, Anil, Sardeshpande, Nagendra, Mohan, Reji, Pai, Muralidhar V., Padte, Kedar, Ganatra, Atul, Kumta, Sonal, Gangurde, Sakshi, Barada, Nayna, Khan, Tabassum, Khan, Shagufta, Sachdeva, Geetanjali, Mishra, Gita D., Mahale, Smita D., Montgomery, Grant W. ... the ECGRI Consortium (2026). Genome-wide association analysis of endometriosis in Indian women supports shared genetic susceptibility and suggestive population specific signals. Scientific Reports. doi: 10.1038/s41598-026-69642-9

Genome-wide association analysis of endometriosis in Indian women supports shared genetic susceptibility and suggestive population specific signals

2026

Journal Article

Genetic architecture of endometriosis: risk factors, comorbidities and clinical implications

Montgomery, Grant W, McGrath, Isabelle M, Toft Overgaard, Michael, Nyegaard, Mette and Mortlock, Sally (2026). Genetic architecture of endometriosis: risk factors, comorbidities and clinical implications. Human Reproduction Update dmag023. doi: 10.1093/humupd/dmag023

Genetic architecture of endometriosis: risk factors, comorbidities and clinical implications

2026

Journal Article

A feasibility study to examine the link between lifestyle and environmental exposures and endometriosis phenotype

Knapman, Blake, Ng, Cecilia, McKinnon, Brett, Gonzalez, Adriana Meneses, Amoako, Akwasi, Henders, Anjali K., Abbott, Jason and Mortlock, Sally (2026). A feasibility study to examine the link between lifestyle and environmental exposures and endometriosis phenotype. Reproductive BioMedicine Online, 53 (2) 105500, 1-9. doi: 10.1016/j.rbmo.2026.105500

A feasibility study to examine the link between lifestyle and environmental exposures and endometriosis phenotype

2026

Journal Article

Molecular signature of human endometrial stem/progenitor cells at the single-cell level

Fitzgerald, Harriet C., Mortlock, Sally, Filby, Caitlin E., Cousins, Fiona L., Marquez-Garcia, Elizabeth, Wyatt, Katherine A., McKinnon, Brett, Rombauts, Luk, Tsaltas, Jim, Montgomery, Grant W. and Gargett, Caroline E. (2026). Molecular signature of human endometrial stem/progenitor cells at the single-cell level. Stem Cell Reports, 21 (7) 102952, 102952. doi: 10.1016/j.stemcr.2026.102952

Molecular signature of human endometrial stem/progenitor cells at the single-cell level

2026

Journal Article

Development of an early prediction model for endometriosis risk: the simplified adolescent factors for endometriosis (SAFE) score

Mishra, Gita D., Baneshi, Mohammad Reza, Mortlock, Sally, Montgomery, Grant W., Doust, Jenny, Dobson, Annette J. and Abbott, Jason (2026). Development of an early prediction model for endometriosis risk: the simplified adolescent factors for endometriosis (SAFE) score. eClinicalMedicine, 93 103806, 1-13. doi: 10.1016/j.eclinm.2026.103806

Development of an early prediction model for endometriosis risk: the simplified adolescent factors for endometriosis (SAFE) score

2026

Journal Article

Impact of adverse childhood experiences on health-related quality of life in Australian women with endometriosis: a population-based cohort study

Gete, Dereje G., Doust, Jenny, Mortlock, Sally, Abbott, Jason and Mishra, Gita D. (2026). Impact of adverse childhood experiences on health-related quality of life in Australian women with endometriosis: a population-based cohort study. Quality of Life Research, 35 (3) 59, 1-14. doi: 10.1007/s11136-025-04160-1

Impact of adverse childhood experiences on health-related quality of life in Australian women with endometriosis: a population-based cohort study

2026

Conference Publication

Methylation risk score modelling indicates potential non-genetic DNA methylation effects associated with endometriosis

Thong, Li Ying, McRae, Allan, Sirota, Marina, Giudice, Linda, Montgomery, Grant and Mortlock, Sally (2026). Methylation risk score modelling indicates potential non-genetic DNA methylation effects associated with endometriosis. 58th Conference of the European-Society-of-Human-Genetics (ESHG), Milan, Italy, 24-27 May 2025. London, United Kingdom: Nature Publishing Group.

Methylation risk score modelling indicates potential non-genetic DNA methylation effects associated with endometriosis

2025

Journal Article

M2 macrophages are major mediators of germline risk of endometriosis and explain pleiotropy with comorbid traits

Ochoa, Soledad, Rasquel‐Oliveira, Fernanda S., McKinnon, Brett, Haro, Marcela, Subramaniam, Sugarniya, Coetzee, Simon, Yu, Pak, Anglesio, Michael S., Wright, Kelly N., Meyer, Raanan, Porter, Anne E., Gargett, Caroline E., Mortlock, Sally, Montgomery, Grant W., Rogers, Michael S. and Lawrenson, Kate (2025). M2 macrophages are major mediators of germline risk of endometriosis and explain pleiotropy with comorbid traits. Advanced Science, 12 (41) e15285, 1-15. doi: 10.1002/advs.202415285

M2 macrophages are major mediators of germline risk of endometriosis and explain pleiotropy with comorbid traits

2025

Conference Publication

Deconvolution of bulk endometrial tissue identifies cell type specific gene regulation associated with endometriosis

Hota, Monalisa, McKinnon, Brett, Montgomery, Grant, McRae, Allan and Mortlock, Sally (2025). Deconvolution of bulk endometrial tissue identifies cell type specific gene regulation associated with endometriosis. 58th Conference of the European Society of Human Genetics (ESHG), Milan, Italy, 24 - 27 May 2025. London, United Kingdom: Nature Publishing Group.

Deconvolution of bulk endometrial tissue identifies cell type specific gene regulation associated with endometriosis

2025

Journal Article

Regulation of RNA splicing in endometrial tissue and its association with endometriosis

Yang, Fei, Qi, Ting, McRae, Allan F., Rogers, Peter A.W., Montgomery, Grant W. and Mortlock, Sally (2025). Regulation of RNA splicing in endometrial tissue and its association with endometriosis. iScience, 28 (9) 113207, 113207. doi: 10.1016/j.isci.2025.113207

Regulation of RNA splicing in endometrial tissue and its association with endometriosis

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, 1-7. doi: 10.1016/j.maturitas.2025.108642

Validation of self-reported endometriosis

2025

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 (2025). Endometrial cell-type specific regulation of the endocannabinoids system and the impact of menstrual cycle and endometriosis. Cannabis and Cannabinoid Research, 10 (4) can.2024.0081, 512-526. doi: 10.1089/can.2024.0081

Endometrial cell-type specific regulation of the endocannabinoids system and the impact of menstrual cycle and 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, 1-11. 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 fon-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 fon-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 fon-genetic DNA methylation effects in a case–control study

2024

Conference Publication

Decoding the genetic links between endometriosis and its comorbidities: implications for disease risk and aetiology

McGrath, Isabelle, Montgomery, Grant W. and Mortlock, Sally (2024). Decoding the genetic links between endometriosis and its comorbidities: implications for disease risk and aetiology. 57th Conference of the European-Society-of-Human-Genetics (ESHG), Berlin Germany, Jun 01-04, 2024. LONDON: SPRINGERNATURE.

Decoding the genetic links between endometriosis and its comorbidities: implications for disease risk and aetiology

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

Conference Publication

Dynamic transcriptomic changes in endometrial tissue and its association with endometriosis and related infertility

Yang, Fei, Qi, Ting, Mcrae, Allan F., Rogers, Peter A. W., Mortlock, Sally and Montgomery, Grant W. (2024). Dynamic transcriptomic changes in endometrial tissue and its association with endometriosis and related infertility. 56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow Scotland, Jun 10-13, 2023. LONDON: SPRINGERNATURE.

Dynamic transcriptomic changes in endometrial tissue and its association with endometriosis and related infertility

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