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2025

Journal Article

Amyotrophic lateral sclerosis established as a multistep process across phenotypes

Ziser, Laura, van Eijk, Ruben P. A., Kiernan, Matthew C., McRae, Allan, Henderson, Robert D., Schultz, David, Needham, Merrilee, Mathers, Susan, McCombe, Pam, Talman, Paul and Vucic, Steve (2025). Amyotrophic lateral sclerosis established as a multistep process across phenotypes. European Journal of Neurology, 32 (1) e16532. doi: 10.1111/ene.16532

Amyotrophic lateral sclerosis established as a multistep process across phenotypes

2024

Journal Article

Liver‐specific deletion of de novo DNA methyltransferases protects against glucose intolerance in high‐fat diet‐fed male mice

Yao, S., Prates, K., Freydenzon, A., Assante, G., McRae, A. F., Morris, M. J. and Youngson, N. A. (2024). Liver‐specific deletion of de novo DNA methyltransferases protects against glucose intolerance in high‐fat diet‐fed male mice. The FASEB Journal, 38 (10) e23690, e23690. doi: 10.1096/fj.202301546rr

Liver‐specific deletion of de novo DNA methyltransferases protects against glucose intolerance in high‐fat diet‐fed male mice

2024

Journal Article

Genetic control of DNA methylation is largely shared across European and East Asian populations

Hatton, Alesha A., Cheng, Fei-Fei, Lin, Tian, Shen, Ren-Juan, Chen, Jie, Zheng, Zhili, Qu, Jia, Lyu, Fan, Harris, Sarah E., Cox, Simon R., Jin, Zi-Bing, Martin, Nicholas G., Fan, Dongsheng, Montgomery, Grant W., Yang, Jian, Wray, Naomi R., Marioni, Riccardo E., Visscher, Peter M. and McRae, Allan F. (2024). Genetic control of DNA methylation is largely shared across European and East Asian populations. Nature Communications, 15 (1) 2713, 1-12. doi: 10.1038/s41467-024-47005-0

Genetic control of DNA methylation is largely shared across European and East Asian populations

2023

Journal Article

The correlates of neonatal complement component 3 and 4 protein concentrations with a focus on psychiatric and autoimmune disorders

Borbye-Lorenzen, Nis, Zhu, Zhihong, Agerbo, Esben, Albiñana, Clara, Benros, Michael E., Bian, Beilei, Børglum, Anders D., Bulik, Cynthia M., Debost, Jean-Christophe Philippe Goldtsche, Grove, Jakob, Hougaard, David M., McRae, Allan F., Mors, Ole, Mortensen, Preben Bo, Musliner, Katherine L., Nordentoft, Merete, Petersen, Liselotte V., Privé, Florian, Sidorenko, Julia, Skogstrand, Kristin, Werge, Thomas, Wray, Naomi R., Vilhjálmsson, Bjarni J. and McGrath, John J. (2023). The correlates of neonatal complement component 3 and 4 protein concentrations with a focus on psychiatric and autoimmune disorders. Cell Genomics, 3 (12) 100457, 1-23. doi: 10.1016/j.xgen.2023.100457

The correlates of neonatal complement component 3 and 4 protein concentrations with a focus on psychiatric and autoimmune disorders

2023

Journal Article

Integration of datasets for individual prediction of DNA methylation-based biomarkers

Merzbacher, Charlotte, Ryan, Barry, Goldsborough, Thibaut, Hillary, Robert F., Campbell, Archie, Murphy, Lee, McIntosh, Andrew M., Liewald, David, Harris, Sarah E., McRae, Allan F., Cox, Simon R., Cannings, Timothy I., Vallejos, Catalina A., McCartney, Daniel L. and Marioni, Riccardo E. (2023). Integration of datasets for individual prediction of DNA methylation-based biomarkers. Genome Biology, 24 (1) 278. doi: 10.1186/s13059-023-03114-5

Integration of datasets for individual prediction of DNA methylation-based biomarkers

2023

Journal Article

Blood-based genome-wide DNA methylation correlations across body-fat- and adiposity-related biochemical traits

Hatton, Alesha A., Hillary, Robert F., Bernabeu, Elena, McCartney, Daniel L., Marioni, Riccardo E. and McRae, Allan F. (2023). Blood-based genome-wide DNA methylation correlations across body-fat- and adiposity-related biochemical traits. The American Journal of Human Genetics, 110 (9), 1564-1573. doi: 10.1016/j.ajhg.2023.08.004

Blood-based genome-wide DNA methylation correlations across body-fat- and adiposity-related biochemical traits

2023

Journal Article

Beyond the Global Brain Differences: Intra-individual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers

Boen, Rune, Kaufmann, Tobias, van der Meer, Dennis, Frei, Oleksandr, Agartz, Ingrid, Ames, David, Andersson, Micael, Armstrong, Nicola J., Artiges, Eric, Atkins, Joshua R., Bauer, Jochen, Benedetti, Francesco, Boomsma, Dorret I., Brodaty, Henry, Brosch, Katharina, Buckner, Randy L., Cairns, Murray J., Calhoun, Vince, Caspers, Svenja, Cichon, Sven, Corvin, Aiden P., Facorro, Benedicto Crespo, Dannlowski, Udo, David, Friederike S., de Geus, Eco J.C., de Zubicaray, Greig I., Desrivières, Sylvane, Doherty, Joanne L., Donohoe, Gary ... Sonderby, Ida E. (2023). Beyond the Global Brain Differences: Intra-individual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers. Biological Psychiatry, 95 (2), 147-160. doi: 10.1016/j.biopsych.2023.08.018

Beyond the Global Brain Differences: Intra-individual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers

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

Rare genetic variants underlie outlying levels of DNA methylation and gene-expression

Chundru, V. Kartik, Marioni, Riccardo E., Pendergast, James G. D., Lin, Tian, Beveridge, Allan J., Martin, Nicholas G, Montgomery, Grant W., Hume, David A., Deary, Ian J., Visscher, Peter M., Wray, Naomi R. and McRae, Allan F. (2023). Rare genetic variants underlie outlying levels of DNA methylation and gene-expression. Human Molecular Genetics, 32 (11), 1912-1921. doi: 10.1093/hmg/ddad028

Rare genetic variants underlie outlying levels of DNA methylation and gene-expression

2023

Journal Article

An overview of DNA methylation-derived trait score methods and applications

Nabais, Marta F., Gadd, Danni A., Hannon, Eilis, Mill, Jonathan, McRae, Allan F. and Wray, Naomi R. (2023). An overview of DNA methylation-derived trait score methods and applications. Genome Biology, 24 (1) 28, 28. doi: 10.1186/s13059-023-02855-7

An overview of DNA methylation-derived trait score methods and applications

2023

Journal Article

Epigenome-wide association study reveals CpG sites associated with thyroid function and regulatory effects on KLF9

Weihs, Antoine, Chaker, Layal, Martin, Tiphaine Christiane, Braun, Kim V.E., Campbell, Purdey J, Cox, Simon R, Fornage, Myriam, Gieger, Christian, Grabe, Hans J, Grallert, Harald, Harris, Sarah E, Kühnel, Brigitte, Marioni, Riccardo E, Martin, Nicholas G, McCartney, Daniel L, McRae, Allan F, Meisinger, Christa, Meurs, Joyce van, Nano, Jana, Nauck, Matthias, Peters, Annette, Prokisch, Holger, Roden, Michael, Selvin, Elizabeth, Beekman, Marian, van Heemst, Diana, Slagboom, Eline P, Swenson, Brenton R, Tin, Adrienne ... Teumer, Alexander (2023). Epigenome-wide association study reveals CpG sites associated with thyroid function and regulatory effects on KLF9. Thyroid (ja), 301-311. doi: 10.1089/thy.2022.0373

Epigenome-wide association study reveals CpG sites associated with thyroid function and regulatory effects on KLF9

2023

Journal Article

Genotype by sex interactions in ankylosing spondylitis

Li, Zhixiu, McRae, Allan F., Wang, Geng, Ellis, Jonathan J., Whyte, Jessica, Kenna, Tony J., Brown, Matthew A. and Evans, David M. (2023). Genotype by sex interactions in ankylosing spondylitis. Nature Genetics, 55 (1), 14-16. doi: 10.1038/s41588-022-01250-5

Genotype by sex interactions in ankylosing spondylitis

2022

Journal Article

Identification of influential probe types in epigenetic predictions of human traits: implications for microarray design

Hillary, Robert F., McCartney, Daniel L., McRae, Allan F., Campbell, Archie, Walker, Rosie M., Hayward, Caroline, Horvath, Steve, Porteous, David J., Evans, Kathryn L. and Marioni, Riccardo E. (2022). Identification of influential probe types in epigenetic predictions of human traits: implications for microarray design. Clinical Epigenetics, 14 (1) 100, 100. doi: 10.1186/s13148-022-01320-9

Identification of influential probe types in epigenetic predictions of human traits: implications for microarray design

2022

Journal Article

Association between DNA methylation variability and self-reported exposure to heavy metals

Freydenzon, Anna, Nabais, Marta F., Lin, Tian, Williams, Kelly L., Wallace, Leanne, Henders, Anjali K., Blair, Ian P., Wray, Naomi R., Pamphlett, Roger and McRae, Allan F. (2022). Association between DNA methylation variability and self-reported exposure to heavy metals. Scientific Reports, 12 (1) 10582, 1-9. doi: 10.1038/s41598-022-13892-w

Association between DNA methylation variability and self-reported exposure to heavy metals

2022

Journal Article

The role of critical immune genes in brain disorders: insights from neuroimaging immunogenetics

Bian, Beilei, Couvy-Duchesne, Baptiste, Wray, Naomi R. and McRae, Allan F. (2022). The role of critical immune genes in brain disorders: insights from neuroimaging immunogenetics. Brain Communications, 4 (2) fcac078, fcac078. doi: 10.1093/braincomms/fcac078

The role of critical immune genes in brain disorders: insights from neuroimaging immunogenetics

2022

Journal Article

Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS

Hop, Paul J., Zwamborn, Ramona A.J., Hannon, Eilis, Shireby, Gemma L., Nabais, Marta F., Walker, Emma M., van Rheenen, Wouter, van Vugt, Joke J.F.A., Dekker, Annelot M., Westeneng, Henk-Jan, Tazelaar, Gijs H.P., van Eijk, Kristel R., Moisse, Matthieu, Baird, Denis, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Ticozzi, Nicola, Ratti, Antonia, Cooper-Knock, Jonathan, Morrison, Karen E., Shaw, Pamela J., Basak, A. Nazli, Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Canosa, Antonio, Brunetti, Maura, Grassano, Maurizio, Gotkine, Marc ... Brain MEND Consortium (2022). Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS. Science Translational Medicine, 14 (633) eabj0264, 1-15. doi: 10.1126/scitranslmed.abj0264

Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS

2022

Journal Article

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

van Rheenen, Wouter, van der Spek, Rick A. A., Bakker, Mark K., van Vugt, Joke J. F. A., Hop, Paul J., Zwamborn, Ramona A. J., de Klein, Niek, Westra, Harm-Jan, Bakker, Olivier B., Deelen, Patrick, Shireby, Gemma, Hannon, Eilis, Moisse, Matthieu, Baird, Denis, Restuadi, Restuadi, Dolzhenko, Egor, Dekker, Annelot M., Gawor, Klara, Westeneng, Henk-Jan, Tazelaar, Gijs H. P., van Eijk, Kristel R., Kooyman, Maarten, Byrne, Ross P., Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Ticozzi, Nicola ... SLAP Consortium (2022). Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. Nature Genetics, 54 (3), 361-361. doi: 10.1038/s41588-022-01020-3

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

2022

Journal Article

Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1

Restuadi, Restuadi, Steyn, Frederik J., Kabashi, Edor, Ngo, Shyuan T., Cheng, Fei-Fei, Nabais, Marta F., Thompson, Mike J., Qi, Ting, Wu, Yang, Henders, Anjali K., Wallace, Leanne, Bye, Chris R., Turner, Bradley J., Ziser, Laura, Mathers, Susan, McCombe, Pamela A., Needham, Merrilee, Schultz, David, Kiernan, Matthew C., van Rheenen, Wouter, van den Berg, Leonard H., Veldink, Jan H., Ophoff, Roel, Gusev, Alexander, Zaitlen, Noah, McRae, Allan F., Henderson, Robert D., Wray, Naomi R., Giacomotto, Jean and Garton, Fleur C. (2022). Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1. Genome Medicine, 14 (1) 7, 7. doi: 10.1186/s13073-021-01006-6

Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1

2022

Journal Article

Epigenetic scores for the circulating proteome as tools for disease prediction

Gadd, Danni A., Hillary, Robert F., McCartney, Daniel L., Zaghlool, Shaza B., Stevenson, Anna J., Cheng, Yipeng, Fawns-Ritchie, Chloe, Nangle, Cliff, Campbell, Archie, Flaig, Robin, Harris, Sarah E., Walker, Rosie M., Shi, Liu, Tucker-Drob, Elliot M., Gieger, Christian, Peters, Annette, Waldenberger, Melanie, Graumann, Johannes, McRae, Allan F., Deary, Ian J., Porteous, David J., Hayward, Caroline, Visscher, Peter M., Cox, Simon R., Evans, Kathryn L., McIntosh, Andrew M., Suhre, Karsten and Marioni, Riccardo E. (2022). Epigenetic scores for the circulating proteome as tools for disease prediction. eLife, 11 e71802, 1-24. doi: 10.7554/eLife.71802

Epigenetic scores for the circulating proteome as tools for disease prediction

2021

Journal Article

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

van Rheenen, Wouter, van der Spek, Rick A. A., Bakker, Mark K., van Vugt, Joke J. F. A., Hop, Paul J., Zwamborn, Ramona A. J., de Klein, Niek, Westra, Harm-Jan, Bakker, Olivier B., Deelen, Patrick, Shireby, Gemma, Hannon, Eilis, Moisse, Matthieu, Baird, Denis, Restuadi, Restuadi, Dolzhenko, Egor, Dekker, Annelot M., Gawor, Klara, Westeneng, Henk-Jan, Tazelaar, Gijs H. P., van Eijk, Kristel R., Kooyman, Maarten, Byrne, Ross P., Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Ticozzi, Nicola ... SLAP Consortium (2021). Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. Nature Genetics, 53 (12), 1636-1648. doi: 10.1038/s41588-021-00973-1

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology