2022

[19] Quantifying the role of transcript levels in mediating DNA methylation effects on complex traits and diseases. Sadler MC, Auwerx C, Lepik K, Porcu E*, Kutalik Z* Nat Commun. 2022 Dec 7;13(1):7559.

[18] Parent-of-Origin inference for biobanks. Hofmeister RJ, Rubinacci S, Ribeiro DM, Buil A, Kutalik Z, Delaneau O. Nat Commun. 2022 Nov 5;13(1):6668.

[17] Liability-scale heritability estimation for biobank studies of low prevalence disease. Ojavee SE, Kutalik Z, Robinson MR. Am J Hum Genet. 2022 Nov 3;109(11):2009-2017.

[16] A saturated map of common genetic variants associated with human height. Yengo L et al Nature. 2022 Oct;610(7933):704-712. 

[15] Sex- and age-dependent genetics of longevity in a heterogeneous mouse population. Bou Sleiman M, Roy S, Gao AW, Sadler MC, von Alvensleben GVG, Li H, Sen S, Harrison DE, Nelson JF, Strong R, Miller RA, Kutalik Z, Williams RW, Auwerx J. Science. 2022 Sep 30;377(6614):eabo3191. doi: 10.1126/science.abo3191.

[14] Gene set enrichment analysis of pathophysiological pathways highlights oxidative stress in psychosis. Pistis G, Vázquez-Bourgon J, Fournier M, Jenni R, Cleusix M, Papiol S, Smart SE, Pardiñas AF, Walters JTR, MacCabe JH, Kutalik Z, Conus P, Crespo-Facorro B, Q Do K. Mol Psychiatry. 2022 Sep 21. doi: 10.1038/s41380-022-01779-1.

[13] Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention. Wang Z et al. Nat Genet. 2022 Sep 7. doi: 10.1038/s41588-022-01165-1.

[12] Haematological changes from conception to childbirth: An indicator of major pregnancy complications. Patxot M, Stojanov M, Ojavee SE, Gobert RP, Kutalik Z, Gavillet M, Baud D, Robinson MR. Eur J Haematol. 2022 Nov;109(5):566-575.

[11] Omics-informed CNV calls reduce false-positive rates and improve power for CNV-trait associations Lepamets M, Auwerx C, Nõukas M, Claringbould A, Porcu E, Kals M, Jürgenson T; Estonian Biobank Research Team, Morris AP, Võsa U, Bochud M, Stringhini S, Wijmenga C, Franke L, Peterson H, Vilo J, Lepik K, Mägi R*, Kutalik Z.* HGG Adv. 2022 Aug 1;3(4):100133.

[10] Limited evidence for blood eQTLs in human sexual dimorphism. Porcu E, Claringbould A, Weihs A, Lepik K; BIOS Consortium, Richardson TG, Völker U, Santoni FA, Teumer A, Franke L, Reymond A*, Kutalik Z*. Genome Med. 2022 Aug 11;14(1):89.

[9] A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids. Ramdas S et al. Am J Hum Genet. 2022 Aug 4;109(8):1366-1387.

[8] A cross-disorder dosage sensitivity map of the human genome. Collins RL, Glessner JT, Porcu E, Lepamets M, Brandon R, Lauricella C, Han L, Morley T, Niestroj LM, Ulirsch J, Everett S, Howrigan DP, Boone PM, Fu J, Karczewski KJ, Kellaris G, Lowther C, Lucente D, Mohajeri K, Nõukas M, Nuttle X, Samocha KE, Trinh M, Ullah F, Võsa U; Epi25 Consortium; Estonian Biobank Research Team, Hurles ME, Aradhya S, Davis EE, Finucane H, Gusella JF, Janze A, Katsanis N, Matyakhina L, Neale BM, Sanders D, Warren S, Hodge JC, Lal D, Ruderfer DM, Meck J, Mägi R, Esko T, Reymond A, Kutalik Z, Hakonarson H, Sunyaev S, Brand H, Talkowski ME. Cell. 2022 Aug 1:S0092-8674(22)00788-7.

[7] Polynomial Mendelian randomization reveals non-linear causal effects for obesity-related traits. Sulc J, Sjaarda J, Kutalik Z. HGG Adv. 2022 Jun 22;3(3):100124.

[6] Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts. Giannuzzi G, Chatron N, Mannik K, Auwerx C, Pradervand S, Willemin G, Hoekzema K, Nuttle X, Chrast J, Sadler MC, Porcu E; 16p11.2 Consortium, Herault Y, Isidor B, Gilbert-Dussardier B, Eichler EE, Kutalik Z, Reymond A. NPJ Genom Med. 2022 Jun 17;7(1):38. 

[5] The Genetic Etiology of Periodic Leg Movement in Sleep. Edelson JL, Schneider LD, Amar D, Brink-Kjaer A, Cederberg KL, Kutalik Z, Hagen EW, Peppard PE, Tempaku PF, Tufik S, Evans DS, Stone K, Tranah G, Cade B, Redline S, Haba-Rubio J, Heinzer R, Marques-Vidal P, Vollenweider P, Winkelmann J, Zou J, Mignot E. Sleep. 2022 Jun 7:zsac121.

[4] Using genetic variation to disentangle the complex relationship between food intake and health outcomes. Pirastu N, McDonnell C, Grzeszkowiak EJ, Mounier N, Imamura F, Merino J, Day FR, Zheng J, Taba N, Concas MP, Repetto L, Kentistou KA, Robino A, Esko T, Joshi PK, Fischer K, Ong KK, Gaunt TR, Kutalik Z, Perry JRB, Wilson JF. PLoS Genet. 2022 Jun 2;18(6):e1010162. 

[3] Improving polygenic prediction with genetically inferred ancestry. Naret O, Kutalik Z, Hodel F, Xu ZM, Marques-Vidal P, Fellay J. HGG Adv. 2022 Apr 20;3(3):100109.

[2] From pharmacogenetics to pharmaco-omics: Milestones and future directions. Auwerx C*, Sadler MC*, Reymond A+, Kutalik Z+ HGG Adv. 2022 Mar 16;3(2):100100. doi: 10.1016/j.xhgg.2022.100100. eCollection 2022 Apr 14.

[1] The individual and global impact of copy-number variants on complex human traits. Auwerx C, Lepamets M, Sadler MC, Patxot M, Stojanov M, Baud D, Mägi R; Estonian Biobank Research Team, Porcu E, Reymond A*, Kutalik Z* Am J Hum Genet. 2022 Feb 25:S0002-9297(22)00061-1. doi: 10.1016/j.ajhg.2022.02.010.