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Publications

2025

Gete D.G. Dobson A.J. Montgomery G.W. Baneshi M.R. Doust J. and Mishra G.D. (2025) Hospitalisations and length of stays in women with endometriosis: a data linkage prospective cohort study. EClinicalMedicine 80: 103030.

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Gete DG Dobson AJ Mortlock S Montgomery GW Hockey R Doust J and Mishra GD (2025) Validation of self-reported endometriosis. Maturitas 199: 108642.

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McGrath I.M. Rukins V. Laisk T. Estonian Biobank Research T. Mortlock S. and Montgomery G.W. (2025) Interaction between genetic risk and comorbid conditions in endometriosis. Human Genetics and Genomics Advances 6: 100456.

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Mishra G.D. Gete D.G. Baneshi M.R. Montgomery G. Taylor J. Doust J. and Abbott J. (2025) Patterns of health service use before and after diagnosis of endometriosis: a data linkage prospective cohort study. Human Reproduction 40: 612-622.

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Ochoa S. Rasquel-Oliveira F.S. McKinnon B. Haro M. Subramaniam S. Yu P. Coetzee S. Anglesio M.S. Wright K.N. Meyer R. (2025) M2 Macrophages are Major Mediators of Germline Risk of Endometriosis and Explain Pleiotropy With Comorbid Traits. Advanced Science 12, e15285.

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Tanaka K. Amoako A.A. Mortlock S. Rogers P.A.W. Holdsworth-Carson S.J. Donoghue J.F. Teh W.T. Montgomery G.W. and McKinnon B. (2025) The influence of genetics on the endocannabinoid system gene expression and relevance for targeting reproductive conditions. Journal of Cannabis Research 7: 29.

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Tanaka K. Subramaniam S. Atluri S. Amoako A.A. Mortlock S. Montgomery G.W. McKinnon B. (2025) Endometrial Cell-Type Specific Regulation of the Endocannabinoids System and the Impact of Menstrual Cycle and Endometriosis. Cannabis Cannabinoid Research 10, 512-526.

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Thong L.Y. McRae A.F. Sirota M. Giudice L. Montgomery G.W. and Mortlock S. (2025) Methylation Risk Score Modelling in Endometriosis: Evidence for Non-Genetic DNA Methylation Effects in a Case-Control Study. International Journal of Molecular Science 26: 3760.

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2024

Gete D.G. Doust J. Mortlock S. Montgomery G. and Mishra G.D. (2024) Risk of Iron Deficiency in Women With Endometriosis: A Population-Based Prospective Cohort Study. Womens Health Issues 34: 317-324.

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Hatton A.A. Cheng F.F. Lin T. Shen R.J. Chen J. Zheng Z. Qu J. Lyu F. Harris S.E. Cox S.R. et al. (2024) Genetic control of DNA methylation is largely shared across European and East Asian populations. Nature Communications 15: 2713.

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Holdsworth-Carson S.J. Chung J. Machalek D.A. Li R. Jun B.K. Griffiths M.J. Churchill M. McCaughey T. Nisbet D. Dior U. et al. (2024) Predicting disease recurrence in patients with endometriosis: an observational study. BMC Medicine 22: 320.

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Ingold N. Seviiri M. Ong J.S. Neale R.E. Pandeya N. Whiteman D.C. Olsen C.M. Martin N.G. Duffy D.L. Khosrotehrani K. et al. (2024) Exploring the Germline Genetics of In Situ and Invasive Cutaneous Melanoma: A Genome-Wide Association Study Meta-Analysis. JAMA Dermatology 160: 964-971.

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Kentistou K.A. Kaisinger L.R. Stankovic S. Vaudel M. Mendes de Oliveira E. Messina A. Walters R.G. Liu X. Busch A.S. Helgason H. et al. (2024) Understanding the genetic complexity of puberty timing across the allele frequency spectrum. Nature Genetics 56: 1397-1411.

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Mbarek H. Gordon S.D. Duffy D.L. Hubers N. Mortlock S. Beck J.J. Hottenga J.J. Pool R. Dolan C.V. Actkins K.V. et al. (2024) Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity. Human Reproduction 39: 240-257.

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Montgomery G.W. (2024) Genetic regulation of ovulation rate and multiple births. Reproduction Fertility and Development 36: RD24083.

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Scholz M. Horn K. Pott J. Wuttke M. Kuhnapfel A. Nasr M.K. Kirsten H. Li Y. Hoppmann A. Gorski M. et al. (2024) X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements. Nature Communications 15: 586.

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Tanaka K. Subramaniam S. Atluri S. Amoako A.A. Mortlock S. Montgomery G.W. and McKinnon B. (2024) Endometrial Cell-Type Specific Regulation of the Endocannabinoids System and the Impact of Menstrual Cycle and Endometriosis. Cannabis and Cannabinoid Research (in press).

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2023

Chundru V.K. Marioni R.E. Prendergast J.G.D. Lin T. Beveridge A.J. Martin N.G. Montgomery G.W. Hume D.A. Deary I.J. Visscher P.M. et al. (2023) Rare genetic variants underlie outlying levels of DNA methylation and gene-expression. Human Molecular Genetics 32: 1912-1921.

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Cousins F.L. McKinnon B.D. Mortlock S. Fitzgerald H.C. Zhang C. Montgomery G.W. and Gargett C.E. (2023) New concepts on the etiology of endometriosis. Journal of Obstetrics and Gynaecological Research 49: 1090-1105.

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Gete D.G. Doust J. Mortlock S. Montgomery G. and Mishra G.D. (2023) Impact of endometriosis on women's health-related quality of life: A national prospective cohort study. Maturitas 174: 1-7.

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Gete D.G. Doust J. Mortlock S. Montgomery G. and Mishra G.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: 536.e1-536.e20.

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Gordon S.D. Duffy D.L. Whiteman D.C. Olsen C.M. McAloney K. Adsett J.M. Garden N.A. Cross S.M. List-Armitage S.E. Brown J. et al. (2023) GWAS of Dizygotic Twinning in an Enlarged Australian Sample of Mothers of DZ Twins. Twin Research and Human Genetics 23: 1-12.

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Lagou V. Jiang L. Ulrich A. Zudina L. Gonzalez K.S.G. Balkhiyarova Z. Faggian A. Maina J.G. Chen S. Todorov P.V. et al. (2023) GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification. Nature Genetics 55: 1448-1461.

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Marla S. Mortlock S. Yoon S. Crawford J. Andersen S. Mueller M. McKinnon B. Nguyen Q. and Montgomery G.W. (2023) Global Analysis of Transcription Start Sites and Enhancers in Endometrial Stromal Cells and Differences Associated with Endometriosis. Cells 12: 1736.

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Marla S. Mortlock S. Heinosalo T. Poutanen M. Montgomery G.W. and McKinnon B.D. (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: 460.

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McGrath I.M. Montgomery G.W. and Mortlock S. (2023) Insights from Mendelian randomization and genetic correlation analyses into the relationship between endometriosis and its comorbidities. Human Reproduction Update 29: 655-674.

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McGrath I.M. International Endometriosis Genetics C. Montgomery G.W. and Mortlock S. (2023) Genomic characterisation of the overlap of endometriosis with 76 comorbidities identifies pleiotropic and causal mechanisms underlying disease risk. Human Genetics 142: 1345-1360.

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McGrath I.M. International Endometriosis Genetics C. Montgomery G.W. and Mortlock S. (2023) Polygenic risk score phenome-wide association study reveals an association between endometriosis and testosterone. BMC Medicine 21: 482.

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Mortlock S. Lord A. Montgomery G. Zakrzewski M. Simms L.A. Krishnaprasad K. Hanigan K. Doecke J.D. Walsh A. Lawrance I.C. et al. (2023) An extremes of phenotype approach confirms significant genetic heterogeneity in patients with ulcerative colitis. Journal of Crohns and Colitis 17: 277-288.

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Mortlock S. Houshdaran S. Kosti I. Rahmioglu N. Nezhat C. Vitonis A.F. Andrews S.V. Grosjean P. Paranjpe M. Horne A.W. et al. (2023) Global endometrial DNA methylation analysis reveals insights into mQTL regulation and associated endometriosis disease risk and endometrial function. Communications Biology 6: 780.

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Ng C.H.M. Michelmore A.G. Mishra G.D. Montgomery G.W. Rogers P. and Abbott J. (2023) Establishing the Australian National Endometriosis Clinical and Scientific Trials (NECST) Registry: A protocol paper. Reproduction and Fertility 4: e230014.

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Rahmioglu N. Mortlock S. Ghiasi M. Moller P.L. Stefansdottir L. Galarneau G. Turman C. Danning R. Law M.H. Sapkota Y. et al. (2023) The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions. Nature Genetics 55: 423-436.

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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. et al. (2023) A molecular staging model for accurately dating the endometrial biopsy. Nature Communications 14: 6222.

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Yang F. Wu Y. Hockey R. International Endometriosis Genetics C. Doust J. Mishra G.D. Montgomery G.W. and Mortlock S. (2023) Evidence of shared genetic factors in the etiology of gastrointestinal disorders and endometriosis and clinical implications for disease management. Cell Reports Medicine 4: 101250.

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2022

Bhurke A.V. DasMahapatra P. Balakrishnan S. Khan S.A. Mortlock S. Das V. Chellamma N. Cheruvara Vadakkathil S. Srivastava A. Majumdar A. et al. (2022) Clinical characteristics and surgical management of endometriosis-associated infertility: A multicenter prospective cohort study. International Journal of Gynaecology and Obstetrics 159: 86-96.

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Chan H.W. Dharmage S. Dobson A. Chung H.F. Loxton D. Doust J. Montgomery G. Stamatakis E. Huxley R.R. Hamer M. et al. (2022) Cohort profile: a prospective Australian cohort study of women's reproductive characteristics and risk of chronic disease from menarche to premenopause (M-PreM). BMJ Open 12: e064333.

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Gaddis N. Mathur R. Marks J. Zhou L. Quach B. Waldrop A. Levran O. Agrawal A. Randesi M. Adelson M. et al. (2022) Multi-trait genome-wide association study of opioid addiction: OPRM1 and beyond. Scientific Reports 12: 16873.

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McKinnon B.D. Lukowski S.W. Mortlock S. Crawford J. Johnston R.L. Nirgianakis K. Mueller M.D. and Montgomery G.W. (2022) Altered differentiation of endometrial mesenchymal stromal fibroblasts is associated with endometriosis susceptibility. Communications Biology 5: 600.

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Mortlock S. Corona R.I. Kho P.F. Pharoah P. Seo J.H. Freedman M.L. Gayther S.A. Siedhoff M.T. Rogers P.A.W. Leuchter R. et al. (2022) A multi-level investigation of the genetic relationship between endometriosis and ovarian cancer histotypes. Cell Reports Medicine 3: 100542.

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Rowlands I. Hockey R. Abbott J. Montgomery G. and Mishra G. (2022) Longitudinal changes in employment following a diagnosis of endometriosis: Findings from an Australian cohort study. Annals of Epidemiology 69: 1-8.

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Rowlands I.J. Hockey R. Abbott J.A. Montgomery G.W. and Mishra G.D. (2022) Body mass index and the diagnosis of endometriosis: Findings from a national data linkage cohort study. Obesity Research & Clinical Practice 16: 235-241.

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Silventoinen K. Piirtola M. Jelenkovic A. Sund R. Tarnoki A.D. Tarnoki D.L. Medda E. Nistico L. Toccaceli V. Honda C. et al. (2022) Smoking remains associated with education after controlling for social background and genetic factors in a study of 18 twin cohorts. Scientific Reports 12: 13148.

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Silventoinen K. Li W. Jelenkovic A. Sund R. Yokoyama Y. Aaltonen S. Piirtola M. Sugawara M. Tanaka M. Matsumoto S. et al. (2022) Changing genetic architecture of body mass index from infancy to early adulthood: an individual based pooled analysis of 25 twin cohorts. International Journal of Obesity 46: 1901-1909.

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Tanaka K. Amoako A.A. Mortlock S. Rogers P.A.W. Holdsworth-Carson S.J. Donoghue J.F. Teh W.T. Montgomery G.W. and McKinnon B. (2022) Gene expression of the endocannabinoid system in endometrium through menstrual cycle. Scientific Reports 12: 9400.

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Tanaka K. Gilroy D. Subramaniam S. Lakshmi P. Bhadravathi Lokeshappa M. Wallace L.M. Atluri S. Schmidt B. Ganter P. Baartz D. et al. (2022) Protocol for the Endometriosis Research Queensland Study (ERQS): an integrated cohort study approach to improve diagnosis and stratify treatment. BMJ Open 12: e064073.

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Whitfield J.B. Colodro-Conde L. Zhu G. Timmers P. Joshi P.K. Montgomery G.W. and Martin N.G. (2022) Co-Inheritance of Variation in All-Cause Mortality and Biochemical Risk Factors. Twin Research and Human Genetics 25: 107-114.

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Winkler T.W. Rasheed H. Teumer A. Gorski M. Rowan B.X. Stanzick K.J. Thomas L.F. Tin A. Hoppmann A. Chu A.Y. et al. (2022) Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals. Communications Biology 5: 580.

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2021

Adewuyi E.O. Mehta D. Sapkota Y. International Endogene C. andMe Research T. Auta A. Yoshihara K. Nyegaard M. Griffiths L.R. Montgomery G.W. et al. (2021) Genetic analysis of endometriosis and depression identifies shared loci and implicates causal links with gastric mucosa abnormality. Human Genetics 140: 529-552.

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Filby C.E. Wyatt K.A. Mortlock S. Cousins F.L. McKinnon B. Tyson K.E. Montgomery G.W. and Gargett C.E. (2021) Comparison of Organoids from Menstrual Fluid and Hormone-Treated Endometrium: Novel Tools for Gynecological Research. Journal of Personalized Medicine 11: 

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Gajbhiye R.K. Montgomery G. Pai M.V. Phukan P. Shekhar S. Padte K. DasMahapatra P. John B.M. Shembekar C. Bhurke A.V. et al. (2021) Protocol for a case-control study investigating the clinical phenotypes and genetic regulation of endometriosis in Indian women: the ECGRI study. BMJ Open 11: e050844.

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Hemani G. Powell J.E. Wang H. Shakhbazov K. Westra H.J. Esko T. Henders A.K. McRae A.F. Martin N.G. Metspalu A. et al. (2021) Phantom epistasis between unlinked loci. Nature 596: E1-E3.

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Holdsworth-Carson S.J. Churchill M. Donoghue J.F. Mortlock S. Fung J.N. Sloggett C. Chung J. Cann L. Teh W.T. Campbell K.R. et al. (2021) Elucidating the role of long intergenic non-coding RNA 339 in human endometrium and endometriosis. Molecular Human Reproduction 27: 

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Kho P.F. Mortlock S. Endometrial Cancer Association C. International Endometriosis Genetics C. Rogers P.A.W. Nyholt D.R. Montgomery G.W. Spurdle A.B. Glubb D.M. and O'Mara T.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: 1353-1365.

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Mangantig E. MacGregor S. Iles M.M. Scolyer R.A. Cust A.E. Hayward N.K. Montgomery G.W. Duffy D.L. Thompson J.F. Henders A. et al. (2021) Germline variants are associated with increased primary melanoma tumor thickness at diagnosis. Human Molecular Genetics 29: 3578-3587.

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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: gaaa082.

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McGrath I.M. Mortlock S. and Montgomery G.W. (2021) Genetic Regulation of Physiological Reproductive Lifespan and Female Fertility. International Journal of Molecular Sciences 22: 2556.

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Min J.L. Hemani G. Hannon E. Dekkers K.F. Castillo-Fernandez J. Luijk R. Carnero-Montoro E. Lawson D.J. Burrows K. Suderman M. et al. (2021) Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation. Nature Genetics 53: 1311-1321.

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Mullins N. Forstner A.J. O'Connell K.S. Coombes B. Coleman J.R.I. Qiao Z. Als T.D. Bigdeli T.B. Borte S. Bryois J. et al. (2021) Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology. Nature Genetics 53: 817-829.

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Munn-Chernoff M.A. Johnson E.C. Chou Y.L. Coleman J.R.I. Thornton L.M. Walters R.K. Yilmaz Z. Baker J.H. Hubel C. Gordon S. et al. (2021) Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies. Addiction Biology 26: e12880.

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Nabais M.F. Laws S.M. Lin T. Vallerga C.L. Armstrong N.J. Blair I.P. Kwok J.B. Mather K.A. Mellick G.D. Sachdev P.S. et al. (2021) Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders. Genome Biology 22: 90.

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Rowlands I.J. Abbott J.A. Montgomery G.W. Hockey R. Rogers P. and Mishra G.D. (2021) Prevalence and incidence of endometriosis in Australian women: a data linkage cohort study. British Journal of Obstetrics and Gynaecology 128: 657-665.

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Ruth K.S. Day F.R. Hussain J. Martinez-Marchal A. Aiken C.E. Azad A. Thompson D.J. Knoblochova L. Abe H. Tarry-Adkins J.L. et al. (2021) Genetic insights into biological mechanisms governing human ovarian ageing. Nature 596: 393-397.

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Silventoinen K. Bogl L.H. Jelenkovic A. Vuoksimaa E. Latvala A. Li W. Tan Q. Zhang D. Pang Z. Ordonana J.R. et al. (2021) Educational attainment of same-sex and opposite-sex dizygotic twins: An individual-level pooled study of 19 twin cohorts. Hormones and Behaviour 136: 105054.

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Tapmeier T.T. Rahmioglu N. Lin J. De Leo B. Obendorf M. Raveendran M. Fischer O.M. Bafligil C. Guo M. Harris R.A. et al. (2021) Neuropeptide S receptor 1 is a nonhormonal treatment target in endometriosis. Science Translational Medicine 13: 

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van Dongen J. Gordon S.D. McRae A.F. Odintsova V.V. Mbarek H. Breeze C.E. Sugden K. Lundgren S. Castillo-Fernandez J.E. Hannon E. et al. (2021) Identical twins carry a persistent epigenetic signature of early genome programming. Nature Communications 12: 5618.

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Vosa U. Claringbould A. Westra H.J. Bonder M.J. Deelen P. Zeng B. Kirsten H. Saha A. Kreuzhuber R. Yazar S. et al. (2021) Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression. Nature Genetics 53: 1300-1310.

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Yang F. Mortlock S. MacGregor S. Iles M.M. Landi M.T. Shi J. Law M.H. and Montgomery G.W. (2021) Genetic Relationship Between Endometriosis and Melanoma. Frontiers in Reproductive Health 3: 711123.

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2020

Adewuyi E.O. Sapkota Y. International Endogene Consortium I. andMe Research T. International Headache Genetics Consortium I. Auta A. Yoshihara K. Nyegaard M. Griffiths L.R. Montgomery G.W. et al. (2020) Shared Molecular Genetic Mechanisms Underlie Endometriosis and Migraine Comorbidity. Genes (Basel) 11: 268-293.

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Craig J.E. Han X. Qassim A. Hassall M. Cooke Bailey J.N. Kinzy T.G. Khawaja A.P. An J. Marshall H. Gharahkhani P. et al. (2020) Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression. Nature Genetics 52: 160-166.

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Filby C.E. Rombauts L. Montgomery G.W. Giudice L.C. and Gargett C.E. (2020) Cellular Origins of Endometriosis: Towards Novel Diagnostics and Therapeutics. Seminars in Reproductive Medicine 38: 201-215.

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Ho Y.Y.W. Mina-Vargas A. Zhu G. Brims M. McNevin D. Montgomery G.W. Martin N.G. Medland S.E. and Painter J.N. (2020) Comparison of Genome-Wide Association Scans for Quantitative and Observational Measures of Human Hair Curvature. Twin Research and Human Genetics 23: 271-277.

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Holdsworth-Carson S.J. Chung J. Sloggett C. Mortlock S. Fung J.N. Montgomery G.W. Dior U.P. Healey M. Rogers P.A. and Girling J.E. (2020) Obesity does not alter endometrial gene expression in women with endometriosis. Reproductive Biomedicine Online 41: 113-118.

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Johnson E.C. Demontis D. Thorgeirsson T.E. Walters R.K. Polimanti R. Hatoum A.S. Sanchez-Roige S. Paul S.E. Wendt F.R. Clarke T.K. et al. (2020) A large-scale genome-wide association study meta-analysis of cannabis use disorder. Lancet Psychiatry 7: 1032-1045.

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Laisk T. Soares A.L.G. Ferreira T. Painter J.N. Censin J.C. Laber S. Bacelis J. Chen C.Y. Lepamets M. Lin K. et al. (2020) The genetic architecture of sporadic and multiple consecutive miscarriage. Nature Communications 11: 5980.

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Landi M.T. Bishop D.T. MacGregor S. Machiela M.J. Stratigos A.J. Ghiorzo P. Brossard M. Calista D. Choi J. Fargnoli M.C. et al. (2020) Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility. Nature Genetics 52: 494-504.

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Law M.H. Aoude L.G. Duffy D.L. Long G.V. Johansson P.A. Pritchard A.L. Khosrotehrani K. Mann G.J. Montgomery G.W. Iles M.M. et al. (2020) Multiplex melanoma families are enriched for polygenic risk. Human Molecular Genetics 29: 2976-2985.

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Li C. Stoma S. Lotta L.A. Warner S. Albrecht E. Allione A. Arp P.P. Broer L. Buxton J.L. Da Silva Couto Alves A. et al. (2020) Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length. American Journal of Human Genetics 106: 389-404.

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Montgomery G.W. Mortlock S. and Giudice L.C. (2020) Should Genetics Now Be Considered the Pre-eminent Etiologic Factor in Endometriosis? Journal of Minimally Invasive Gynecology 27: 280-286.

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Montgomery G.W. (2020) Commentary: lessons from molecular genetic studies on reporting false-positive results. Reproduction Fertility and Development 32: 1298-1300.

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Mortlock S. Kendarsari R.I. Fung J.N. Gibson G. Yang F. Restuadi R. Girling J.E. Holdsworth-Carson S.J. Teh W.T. Lukowski S.W. et al. (2020) Tissue specific regulation of transcription in endometrium and association with disease. Human Reproduction 35: 377-393.

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Silventoinen K. Jelenkovic A. Sund R. Latvala A. Honda C. Inui F. Tomizawa R. Watanabe M. Sakai N. Rebato E. et al. (2020) Genetic and environmental variation in educational attainment: an individual-based analysis of 28 twin cohorts. Scientific Reports 10: 12681.

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Tanaka K. Mayne L. Khalil A. Baartz D. Eriksson L. Mortlock S.A. Montgomery G. McKinnon B. and Amoako A.A. (2020) The role of the endocannabinoid system in aetiopathogenesis of endometriosis: A potential therapeutic target. European Journal of Obstetrics & Gynecology and Reproductive Biology 244: 87-94.

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Vallerga C.L. Zhang F. Fowdar J. McRae A.F. Qi T. Nabais M.F. Zhang Q. Kassam I. Henders A.K. Wallace L. et al. (2020) Analysis of DNA methylation associates the cystine-glutamate antiporter SLC7A11 with risk of Parkinson's disease. Nature Communications 11: 1238.

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Whitfield J.B. Colodro-Conde L. Timmers P. Joshi P.K. Montgomery G.W. and Martin N.G. (2020) Comparison of Familial, Polygenic and Biochemical Predictors of Mortality. Twin Research and Human Genetics 23: 307-315.

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2019

Clark D.W. Okada Y. Moore K.H.S. Mason D. Pirastu N. Gandin I. Mattsson H. Barnes C.L.K. Lin K. Zhao J.H. et al. (2019) Associations of autozygosity with a broad range of human phenotypes. Nature Communications 10: 4957.

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Dior U.P. Nisbet D. Fung J.N. Foster G. Healey M. Montgomery G.W. Rogers P.A.W. Holdsworth-Carson S.J. and Girling J.E. (2019) The Association of Sonographic Evidence of Adenomyosis with Severe Endometriosis and Gene Expression in Eutopic Endometrium. Journal of Minimally Invasive Gynecology 26: 941-948.

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Gabbett M.T. Laporte J. Sekar R. Nandini A. McGrath P. Sapkota Y. Jiang P. Zhang H. Burgess T. Montgomery G.W. et al. (2019) Molecular Support for Heterogonesis Resulting in Sesquizygotic Twinning. New England Journal of Medicine 380: 842-849.

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2018

Fung J.N. Mortlock S. Girling J.E. Holdsworth-Carson S.J. Teh W.T. Zhu Z. Lukowski S.W. McKinnon B.D. McRae A. Yang J. et al. (2018) Genetic regulation of disease risk and endometrial gene expression highlights potential target genes for endometriosis and polycystic ovarian syndrome. Science Reports 8: 11424.

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Gajbhiye R. Fung J.N. Montgomery G.W. (2018) Complex genetics of female fertility. NPJ Genomic Medicine 3, 29.

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2017

Day F.R. Thompson D.J. Helgason H. Chasman D.I. Finucane H. Sulem P. Ruth K.S. Whalen S. Sarkar A.K. Albrecht E. et al. (2017) Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk. Nature Genetics 49, 834-41.

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Sapkota Y. Steinthorsdottir V. Morris A.P. Fassbender A. Rahmioglu N. De Vivo I. Buring J.E. Zhang F. Edwards T.L. Jones S. et al. (2017) Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism. Nature Communications 8: 15539.

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2016

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2015

Day F.R, Ruth K.S. Thompson D.J. Lunetta K.L. Pervjakova N, Chasman D.I. Stolk L., Finucane H.K. Sulem P. Bulik-Sullivan B. et al. (2015) Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. Nature Genetics 47, 1294-303.

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2014

Perry J.R. Day F. Elks C.E. Sulem P. Thompson D.J. Ferreira T. He C. Chasman D.I. Esko T., Thorleifsson G. et al. (2014) Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. Nature 514, 92-7.

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2013

Lee S.H. Harold D. Nyholt D.R. Goddard M.E. Zondervan K.T. Williams J. Montgomery G.W. Wray N.R. and Visscher P.M. (2013) Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer's disease, multiple sclerosis and endometriosis. Human Molecular Genetics 22: 832-841.

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Perry J.R. Corre T.Esko T. Chasman D.I. Fischer K. Franceschini N. He C. Kutalik Z. Mangino M. Rose L.M. et al. (2013) A genome-wide association study of early menopause and the combined impact of identified variants. Human molecular genetics 22, 1465-72.

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2012

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2011

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2007

Souter V.L. Parisi M.A. Nyholt D.R. Kapur R.A. Henders A.K. Opheim K.E. Gunther D.F. Mitchell M.E. Glass I.A. and Montgomery G.W. (2007) A case of true hermaphroditism reveals an unusual mechanism of twinning. Human Genet 121: 179-185.

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2006

Palmer JS, Zhao ZZ, Hoekstra C, Hayward NK, Webb PM, Whiteman DC, Martin NG, Boomsma DI, Duffy DL, Montgomery GW (2006) Novel variants in growth differentiation factor 9 in mothers of dizygotic twins. Journal of Clinical Endocrinology and Metabolism 91, 4713-6.

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2003

Souter V. Kapur R.P. Nyholt D.R. Skogerboe K. Myerson D. Ton C. Easterling T. Shields L. Montgomery G.W. and Glass I.A. (2003) A report of dizygous monochorionic twins. New England Journal of Medicine 349: 152-156.

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2001

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2000

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1993

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