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2026

Journal Article

Reply to letter to editor “Clarifying exposure heterogeneity in a review of HERVs and neurodegenerative diseases”

Geleta, Leta Adugna, Doyle, Caitlin, Garton, Fleur C., Fowler, Megan, Carr, Jillian M., Akkari, P.Anthony, McRae, Allan F., Rogers, Mary-Louise, Madakkatel, Iqbal and Benyamin, Beben (2026). Reply to letter to editor “Clarifying exposure heterogeneity in a review of HERVs and neurodegenerative diseases”. Brain, Behavior, and Immunity, 137 106834, 106834-106834. doi: 10.1016/j.bbi.2026.106834

Reply to letter to editor “Clarifying exposure heterogeneity in a review of HERVs and neurodegenerative diseases”

2026

Journal Article

Epigenome-wide association study meta-analysis of wellbeing

Bartels, Meike, van de Weijer, Margot P., Azcona-Granada, Natalia, Baselmans, Bart M. L., Suderman, Matthew, Soerensen, Mette, Buchwald, Jadwiga, Mulder, Rosa H., Rawal, Rajesh, Luciano, Michelle, Bonder, Marc Jan, Choudhary, Priyanka, Lowry, Estelle, Lind, Penelope A., Schwartz, Joel, Debrabant, Birgit, Ollikainen, Miina, Felix, Janine F., Bakermans-Kranenburg, Marian J., Tiemeier, Henning, Gieger, Christian, Waldenberger, Melanie, Martin, Nicholas G., Vokonas, Pantel, Baccarelli, Andrea A., Christensen, Kaare, Kaprio, Jaakko, van IJzendoorn, Marinus H., Emeny, Rebecca T. ... van Dongen, Jenny (2026). Epigenome-wide association study meta-analysis of wellbeing. Clinical Epigenetics. doi: 10.1186/s13148-026-02202-0

Epigenome-wide association study meta-analysis of wellbeing

2026

Journal Article

Strategic Amyotrophic Lateral Sclerosis Australia–Systems Genomics Consortium (SALSA-SGC): cohort profile

Henders, Anjali K., Ziser, Laura, Garton, Fleur C., Adams, Lorel, Ernst, Karalyn, Furlong, Sarah, Heads, Judith Anne, Heggie, Susan, Krasniqi, Ruth, Bhadravathi Lokeshappa, Madhura, Mazumder, Srestha, McNamara, Elyshia, MacShane, Amanda, Mekhael, Linda, Nunn, Lorelle, Orden, Bronwen, Ryder, Julie, Thorpe, Kathryn, Toubia, Marie, Wallace, Leanne M., Wickremeratne, Dina, Windebank, Emma, Benyamin, Beben, Ngo, Shyuan, Nicholson, Garth, Pamphlett, Roger, Steyn, Frederik J., Visscher, Peter M., Willams, Kelly L. ... Wray, Naomi R. (2026). Strategic Amyotrophic Lateral Sclerosis Australia–Systems Genomics Consortium (SALSA-SGC): cohort profile. BMJ Open, 16 (6) e110906, 1-10. doi: 10.1136/bmjopen-2025-110906

Strategic Amyotrophic Lateral Sclerosis Australia–Systems Genomics Consortium (SALSA-SGC): cohort profile

2026

Journal Article

Extensive antagonistic variants across the human genome

Bian, Beilei, Hivert, Valentin, Wray, Naomi R. and McRae, Allan F. (2026). Extensive antagonistic variants across the human genome. Nature Communications, 17 (1) 6122, 1-12. doi: 10.1038/s41467-026-71215-3

Extensive antagonistic variants across the human genome

2026

Journal Article

Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis

Hop, Paul J., Kooyman, Maarten, Kenna, Brendan J., Zwamborn, Ramona A. J., van Eijk, Kristel R., Wang, Yan, van Dijk, Charlotte H., Bekema, Erwin, van Rheenen, Wouter, Beele, Paul, van Vugt, Joke J. F. A., Al Khleifat, Ahmad, Iacoangeli, Alfredo, Cooper-Knock, Johnathan, Smith, Bradley N., Topp, Simon, van der Kooi, Anneke J., Fominykh, Vera, Drory, Vivian, Lerner, Yossef, Shovman, Yehuda, Rowe, Dominic B., Williams, Kelly L., McLaughlin, Russell L., Hurt, Jessica, Huang, Yunfeng, Chen, Chia-Yen, Tsai, Ellen, Runz, Heiko ... Veldink, Jan H. (2026). Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis. Nature Genetics, 58 (4), 717-725. doi: 10.1038/s41588-026-02535-9

Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis

2026

Journal Article

Effects of testosterone on gene expression in males and females across 40 human tissues

Cheruiyot, Evans Kiptoo, Zhihong, Zhu and Mcrae, Allan F. (2026). Effects of testosterone on gene expression in males and females across 40 human tissues. Scientific Reports, 16 (1) 10223, 1-11. doi: 10.1038/s41598-026-40863-2

Effects of testosterone on gene expression in males and females across 40 human tissues

2026

Journal Article

Blood-based DNA methylation captures variance in adult height

Hatton, Alesha A., Hillary, Robert F., McCartney, Daniel L., Harris, Sarah E., Cox, Simon R., Evans, Kathryn L., Walker, Rosie M., Suderman, Matthew, Yousefi, Paul, McRae, Allan F. and Marioni, Riccardo E. (2026). Blood-based DNA methylation captures variance in adult height. Genome Biology, 27 (1) 37. doi: 10.1186/s13059-025-03918-7

Blood-based DNA methylation captures variance in adult height

2025

Journal Article

The roles of human endogenous retrovirus in neurodegenerative diseases: a systematic review

Geleta, Leta Adugna, Doyle, Caitlin, Garton, Fleur C., Fowler, Megan, Carr, Jillian M., Akkari, P.Anthony, McRae, Allan F., Rogers, Mary-Louise, Madakkatel, Iqbal and Benyamin, Beben (2025). The roles of human endogenous retrovirus in neurodegenerative diseases: a systematic review. Brain, Behavior, and Immunity, 132 106201. doi: 10.1016/j.bbi.2025.106201

The roles of human endogenous retrovirus in neurodegenerative diseases: a systematic review

2025

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 (2025). 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, May 24-27, 2025. LONDON: SPRINGERNATURE.

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

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

Conference Publication

Investigating epigenetic changes in body mass index trajectories across childhood

Kym-Mai Nguyen, , Flatley, Christopher, Hatton, Alesha, Thong, Li Ying, Evans, David, Warrington, Nicole, McRae, Allan and Gratten, Jacob (2025). Investigating epigenetic changes in body mass index trajectories across childhood. 58th Conference of the European-Society-of-Human-Genetics (ESHG), Milan Italy, May 24-27, 2025. LONDON: SPRINGERNATURE.

Investigating epigenetic changes in body mass index trajectories across childhood

2025

Journal Article

Epigenetic profiles of tissue informative CpGs inform ALS disease status and progression

Caggiano, Christa, Morselli, Marco, Qian, Xiaoyu, Celona, Barbara, Thompson, Michael J., Wani, Shivangi, Tosevska, Anela, Taraszka, Kodi, Heuer, Galen, Ngo, Shyuan T., Steyn, Frederick J., Nestor, Peter J., Wallace, Leanne, Mccombe, Pamela, Heggie, Susan, Thorpe, Kathryn, Mcelligott, Caitlin, English, Gemyka, Henders, Anjali, Henderson, Robert, Lomen-Hoerth, Catherine, Wray, Naomi R., Mcrae, Allan F., Pellegrini, Matteo, Garton, Fleur C. and Zaitlen, Noah (2025). Epigenetic profiles of tissue informative CpGs inform ALS disease status and progression. Genome Medicine, 17 (1) 115, 1-20. doi: 10.1186/s13073-025-01542-5

Epigenetic profiles of tissue informative CpGs inform ALS disease status and progression

2025

Journal Article

Trans-eQTL mapping prioritises USP18 as a negative regulator of interferon response at a lupus risk locus

Freimann, Krista, Brümmer, Anneke, Warmerdam, Robert, Rupall, Tarran S., Hernández-Ledesma, Ana Laura, Chiou, Joshua, Holzinger, Emily R., Maranville, Joseph C., Nakic, Nikolina, Ongen, Halit, Stefanucci, Luca, Turchin, Michael C., Barturen, Guillermo, Alarcón-Riquelme, Marta E., Viñuela, Ana, Dupuis, Théo, Brown, Andrew, Zhernakova, Dasha, Xie, Manke, Wood, Andrew R., Westra, Harm-Jan, Wen, Jia, Weiss, Stefan, Wang, Qingbo S., Völker, Uwe, Visscher, Peter M., Verlouw, Joost, Veldink, Jan, Tönjes, Anke ... Alasoo, Kaur (2025). Trans-eQTL mapping prioritises USP18 as a negative regulator of interferon response at a lupus risk locus. Nature Communications, 16 (1) 8795. doi: 10.1038/s41467-025-63856-7

Trans-eQTL mapping prioritises USP18 as a negative regulator of interferon response at a lupus risk locus

2025

Journal Article

Penetrance of neurodevelopmental copy number variants is associated with variations in cortical morphology

Silva, Ana I., Sønderby, Ida E., Kirov, George, Abdellaoui, Abdel, Agartz, Ingrid, Ames, David, Armstrong, Nicola J., Artiges, Eric, Banaschewski, Tobias, Bassett, Anne S., Bearden, Carrie E., Blangero, John, Boen, Rune, Boomsma, Dorret I., Bülow, Robin, Butcher, Nancy J., Calhoun, Vince, Campbell, Linda E., Chow, Eva W.C., Ciufolini, Simone, Craig, Michael C., Crespo-Farroco, Benedicto, Cunningham, Adam C., Dalvie, Shareefa, Daly, Eileen, Dazzan, Paola, de Geus, Eco J.C., de Zubicaray, Greig I., Doherty, Joanne L. ... for the ENIGMA-CNV working group (2025). Penetrance of neurodevelopmental copy number variants is associated with variations in cortical morphology. Biological Psychiatry: Cognitive Neuroscience and Neuroimaging, 10 (10), 1093-1106. doi: 10.1016/j.bpsc.2025.05.010

Penetrance of neurodevelopmental copy number variants is associated with variations in cortical morphology

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

White blood cell proportions are associated with response to psychosocial therapy in young people at ultra-high risk for psychosis

Barker, Lauren F., McRae, Allan F., Yuen, Hok Pan, Henders, Anjali K., Wallace, Leanne M., Lin, Tian, Phassouliotis, Christina, Spark, Jessica, Kerr, Melissa, Byrne, Enda M., Amminger, G. Paul, Nelson, Barnaby, Wray, Naomi R. and McGorry, Patrick D. (2025). White blood cell proportions are associated with response to psychosocial therapy in young people at ultra-high risk for psychosis. Biological Psychiatry Global Open Science, 5 (5) 100546, 1-11. doi: 10.1016/j.bpsgos.2025.100546

White blood cell proportions are associated with response to psychosocial therapy in young people at ultra-high risk for psychosis

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

2025

Journal Article

GWAS significance thresholds in large cohorts of European ancestry

Cheruiyot, Evans K., Yang, Tingyan and McRae, Allan F (2025). GWAS significance thresholds in large cohorts of European ancestry. Genetics, 230 (1) iyaf056. doi: 10.1093/genetics/iyaf056

GWAS significance thresholds in large cohorts of European ancestry

2025

Journal Article

Ten years preceding a diagnosis of neurodegenerative disease in Europe and Australia: medication use, health conditions, and biomarkers associated with Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis

Wei, Dang, Freydenzon, Anna, Guinebretiere, Octave, Zaidi, Karim, Yang, Fen, Ye, Weimin, Hammar, Niklas, Modig, Karin, Wray, Naomi R., Feychting, Maria, Hamieh, Nadine, Ventelou, Bruno, Lekens, Beranger, Gantzer, Laurene, Durrleman, Stanley, McRae, Allan, Couvy-Duchesne, Baptiste, Fang, Fang and Nedelec, Thomas (2025). Ten years preceding a diagnosis of neurodegenerative disease in Europe and Australia: medication use, health conditions, and biomarkers associated with Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis. eBioMedicine, 113 105585, 1-13. doi: 10.1016/j.ebiom.2025.105585

Ten years preceding a diagnosis of neurodegenerative disease in Europe and Australia: medication use, health conditions, and biomarkers associated with Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis

2025

Journal Article

Genome-wide copy number variation association study in anorexia nervosa

Walker, Alicia, Karlsson, Robert, Szatkiewicz, Jin P., Thornton, Laura M., Yilmaz, Zeynep, Leppä, Virpi M., Savva, Androula, Lin, Tian, Sidorenko, Julia, McRae, Allan, Kirov, George, Davies, Helena L., Fundín, Bengt T., Chawner, Samuel J. R. A., Song, Jie, Borg, Stina, Wen, Jia, Watson, Hunna J., Munn-Chernoff, Melissa A., Baker, Jessica H., Gordon, Scott, Berrettini, Wade H., Brandt, Harry, Crawford, Steven, Halmi, Katherine A., Kaplan, Allan S., Kaye, Walter H., Mitchell, James, Strober, Michael ... Wray, Naomi R. (2025). Genome-wide copy number variation association study in anorexia nervosa. Molecular Psychiatry, 30 (5) 867, 2009-2016. doi: 10.1038/s41380-024-02811-2

Genome-wide copy number variation association study in anorexia nervosa