- 2024
- Published
Variants at the Interleukin 1 Gene Locus and Pericarditis
Thorolfsdottir, R. B., Jonsdottir, A. B., Sveinbjornsson, G., Aegisdottir, H. M., Oddsson, A., Stefansson, O. A., Halldorsson, G. H., Saevarsdottir, S., Thorleifsson, G., Stefansdottir, L., Pedersen, O. B., Sørensen, E., Ghouse, J., Raja, A. A., Zheng, C., Silajdzija, E., Rand, S. A., Erikstrup, C., Ullum, H., Mikkelsen, C. & 26 others, , 2024, In: JAMA Cardiology. 9, 2, p. 165-172 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Clinical exome sequencing reveals a novel pathogenic variant in KIF12 underlying cholestasis with highly variable phenotypes
Waheed, N., Waris, R., Naseer, M., Razzaq, A., Suleman, Sufyan & Ullah, A., 2024, In: Clinical Genetics. 105, 1, p. 106-108Research output: Contribution to journal › Comment/debate › Research › peer-review
- Published
Pediatric Features of Genetic Predisposition to Polycystic Ovary Syndrome
Zhu, J., Eliasen, A. U., Aris, I. M., Stinson, Sara, Holm, Jens-Christian, Hansen, Torben, Hivert, M., Bønnelykke, Klaus, Salem, R. M., Hirschhorn, J. N. & Chan, Y., 2024, In: Journal of Clinical Endocrinology and Metabolism. 109, 2, p. 380-388Research output: Contribution to journal › Journal article › Research › peer-review
- 2023
- Published
Genetic variants associated with syncope implicate neural and autonomic processes
Aegisdottir, H. M., Thorolfsdottir, R. B., Sveinbjornsson, G., Stefansson, O. A., Gunnarsson, B., Tragante, V., Thorleifsson, G., Stefansdottir, L., Thorgeirsson, T. E., Ferkingstad, E., Sulem, P., Norddahl, G., Rutsdottir, G., Banasik, K., Christensen, A. H., Mikkelsen, C., Pedersen, O. B., Brunak, S., Bruun, M. T., Erikstrup, C. & 26 others, , 2023, In: European Heart Journal. 44, 12, p. 1070–1080 12 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Discovery of drug-omics associations in type 2 diabetes with generative deep-learning models: [with Author Correction]
Allesøe, R. L., Lundgaard, A. T., Hernández Medina, R., Aguayo-Orozco, A., Johansen, J., Nissen, J. N., Brorsson, C., Mazzoni, G., Niu, L., Biel, J. H., Brasas, V., Webel, H., Benros, M. E., Pedersen, A. G., Chmura, P. J., Jacobsen, U. P., Mari, A., Koivula, R., Mahajan, A., Vinuela, A. & 31 others, , 2023, In: Nature Biotechnology. 41, 3, p. 399–408 18 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Preface: causes of obesity, theories, conjectures and evidence
Allison, D. B., Sørensen, Thorkild I.A., Hall, K. D. & Speakman, J. R., 2023, In: Philosophical transactions of the Royal Society of London. Series B, Biological sciences. 378, 1885, 2 p., 20220200.Research output: Contribution to journal › Editorial › Research
- Published
Physical Activity and Insulin Sensitivity Independently Attenuate the Effect of FTO rs9939609 on Obesity
Lepola, Mette Andersen, Ängquist, Lars, Bork-Jensen, J., Jonsson, Anna Elisabet, Stinson, Sara, Sandholt, C. H., Thodberg, Malte, Pikkupeura, Laura Maarit, Ongstad, E. L., Grarup, Niels, Astrup, A., Pedersen, Oluf Borbye, Williams, K., Barrès, Romain, Sørensen, Thorkild I.A., Linneberg, Allan René, Grimsby, J., Rhodes, C. J. & Hansen, Torben, 2023, In: Diabetes Care. 46, 5, p. 985–992 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Evidence of a causal and modifiable relationship between kidney function and circulating trimethylamine N-oxide
Andrikopoulos, P., Aron-Wisnewsky, J., Chakaroun, R., Myridakis, A., Forslund, S. K., Nielsen, T., Adriouch, S., Holmes, B., Chilloux, J., Vieira-Silva, S., Falony, G., Salem, J. E., Andreelli, F., Belda, E., Kieswich, J., Chechi, K., Puig-Castellvi, F., Chevalier, M., Le Chatelier, E., Olanipekun, M. T. & 83 others, , 2023, In: Nature Communications. 14, 18 p., 5843.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
A Novel Homozygous Nonsense Variant in the DΥM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family
Bakar, A., Shams, S., Bibi, N., Ullah, A., Ahmad, W., Jelani, M., Muthaffar, O. Y., Abdulkareem, A. A., Abujamel, T. S., Haque, A., Naseer, M. I. & Khan, B., 2023, In: Genes. 14, 14 p., 510.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Genome-wide association study of placental weight identifies distinct and shared genetic influences between placental and fetal growth
Beaumont, R. N., Flatley, C., Vaudel, M., Wu, X., Chen, J., Moen, G. H., Skotte, L., Helgeland, Ø., Solé-Navais, P., Banasik, K., Albiñana, C., Ronkainen, J., Fadista, J., Stinson, S. E., Trajanoska, K., Wang, C. A., Westergaard, D., Srinivasan, S., Sánchez-Soriano, C., Bilbao, J. R. & 68 others, , 2023, In: Nature Genetics. 55, 11, p. 1807-1819 13 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly
Bilal, M., Khan, H., Khan, M. J., Haack, T. B., Buchert, R., Liaqat, K., Ullah, K., Ahmed, S., Bharadwaj, T., Acharya, A., Peralta, S., Najumuddin, Ali, H., Hasni, M. S., Schrauwen, I., Ullah, A., Ahmad, W. & Leal, S. M., 2023, In: European Journal of Human Genetics. 31, 11, p. 1270-1274Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Cohort Profile: The Copenhagen Infant Health Nurse Records (CIHNR) cohort
Bjerregaard, L. G., Wüst, Miriam, Johansen, T. S. D., Sørensen, Thorkild I.A., Dahl, C. M. & Baker, J. L., 2023, In: International Journal of Epidemiology. 52, 6, p. 340–e346 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura
Bjornsdottir, G., Chalmer, M. A., Stefansdottir, L., Skuladottir, A. T., Einarsson, G., Andresdottir, M., Beyter, D., Ferkingstad, E., Gretarsdottir, S., Halldorsson, B. V., Halldorsson, G. H., Helgadottir, A., Helgason, H., Hjorleifsson Eldjarn, G., Jonasdottir, A., Jonasdottir, A., Jonsdottir, I., Knowlton, K. U., Nadauld, L. D., Lund, S. H. & 30 others, , 2023, In: Nature Genetics. 55, 11, p. 1843-1853Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Primary weight loss failure after Roux-en-Y gastric bypass is characterized by impaired gut-hormone mediated regulation of food intake
Bojsen-Møller, Kirstine Nyvold, Svane, M. S., Martinussen, C., Dirksen, Carsten Moro, Jørgensen, Nils Bruun, Jensen, Jens-Erik Beck, Jensen, Christian Zinck, Torekov, Signe Sørensen, Kristiansen, V. B., Rehfeld, Jens Frederik, Bork-Jensen, J., Grarup, Niels, Hansen, Torben, Hartmann, Bolette, Holst, Jens Juul & Madsbad, Sten, 2023, In: International Journal of Obesity. 47, 11, p. 1143-1151 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Genetic analysis of blood molecular phenotypes reveals common properties in the regulatory networks affecting complex traits
Brown, A. A., Fernandez-Tajes, J. J., Hong, M. G., Brorsson, C. A., Koivula, R. W., Davtian, D., Dupuis, T., Sartori, A., Michalettou, T. D., Forgie, I. M., Adam, J., Allin, K. H., Caiazzo, R., Cederberg, H., De Masi, F., Elders, P. J. M., Giordano, G. N., Haid, M., Hansen, T., Hansen, T. H. & 134 others, , 2023, In: Nature Communications. 14, 17 p., 5062.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation
Budu-Aggrey, A., Kilanowski, A., Sobczyk, M. K., Shringarpure, S. S., Mitchell, R., Reis, K., Reigo, A., Mägi, R., Nelis, M., Tanaka, N., Brumpton, B. M., Thomas, L. F., Sole-Navais, P., Flatley, C., Espuela-Ortiz, A., Herrera-Luis, E., Lominchar, J. V. T., Bork-Jensen, J., Marenholz, I., Arnau-Soler, A. & 112 others, , 2023, In: Nature Communications. 14, 6172.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
The effect of ferritin-guided iron supplementation among Danish female first-time blood donors
Drechsler, L. Ø., Boldsen, J. K., Hindhede, L., Aagaard, B., Harritshøj, Lene Holm, Mikkelsen, Christina, Brodersen, T., Brøns, N., Schwinn, M., Hjalgrim, Henrik, Rostgaard, K., Topholm Bruun, M., Ostrowski, Sisse Rye, Pedersen, Ole Birger Vesterager, Mikkelsen, S. & Erikstrup, C., 2023, In: Transfusion. 63, 9, p. 1710-1718 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Circulating Metabolomic and Lipidomic Signatures Identify a Type 2 Diabetes Risk Profile in Low-Birth-Weight Men with Non-Alcoholic Fatty Liver Disease
Elingaard-Larsen, L. O., Villumsen, S. O., Justesen, L., Thuesen, Anne Cathrine Baun, Kim, M., Ali, M., Danielsen, E. R., Legido-Quigley, C., van Hall, Gerrit, Hansen, Torben, Ahluwalia, T. S., Vaag, Allan & Brøns, C., 2023, In: Nutrients. 15, 7, 16 p., 1590.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Early childhood adversity and body mass index in childhood and adolescence: linking registry data on adversities with school health records of 53,401 children from Copenhagen
Elsenburg, Leonie K., Rieckmann, Andreas, Bengtsson, J., Lange, Theis, Baker, J. L., Sørensen, Thorkild I.A. & Rod, Naja Hulvej, 2023, In: International Journal of Obesity. p. 1057–1064 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
The gut microbiota contributes to the pathogenesis of anorexia nervosa in humans and mice
Fan, Y., Støving, R. K., Berreira Ibraim, S., Hyötyläinen, T., Thirion, F., Arora, T., Lyu, L., Stankevic, E., Hansen, T. H., Déchelotte, P., Sinioja, T., Ragnarsdottir, O., Pons, N., Galleron, N., Quinquis, B., Levenez, F., Roume, H., Falony, G., Vieira-Silva, S., Raes, J. & 6 others, , 2023, In: Nature Microbiology. 8, p. 787–802Research output: Contribution to journal › Journal article › Research › peer-review
- E-pub ahead of print
Interaction of genetic risk and lifestyle on the incidence of atrial fibrillation
Frederiksen, T. C., Christiansen, M. K., Benjamin, E. J., Overvad, K., Olsen, A., Lepola, Mette Andersen, Hansen, Torben, Grarup, Niels, Jensen, H. K. & Dahm, C. C., 2023, (E-pub ahead of print) In: Heart.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
A comprehensive map of human glucokinase variant activity
Gersing, S., Cagiada, Matteo, Gebbia, M., Gjesing, A. P., Coté, A. G., Seesankar, G., Li, R., Tabet, D., Weile, J., Stein, Amelie, Gloyn, A. L., Hansen, Torben, Roth, F. P., Lindorff-Larsen, Kresten & Hartmann-Petersen, Rasmus, 2023, In: Genome Biology. 24, 1, 23 p., 97.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencing
Gul, Rutaba, Firasat, S., Schubert, Mikkel, Ullah, A., Peña Lozano, Elionora, Thuesen, Anne Cathrine Baun, Gjesing, A. P., Hussain, M., Tufail, M., Saqib, M., Afshan, K. & Hansen, Torben, 2023, In: Frontiers in Genetics. 14, 14 p., 1254909.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing
Gul, Rutaba, Firasat, S., Schubert, Mikkel, Ullah, A., Peña, E., Thuesen, Anne Cathrine Baun, Hussain, M., Stæger, Frederik Filip Vinggaard, Gjesing, A. P., Albrechtsen, Anders & Hansen, Torben, 2023, In: Frontiers in Genetics. 14, 13 p., 1128850.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1
Hajra, B., Abdullah, Bibi, N., Syed, F., Ullah, A., Ahmad, W. & Umm-e-Kalsoom, 2023, In: Anais Brasileiros de Dermatologia. 98, 5, p. 580-586 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Natural selection affects multiple aspects of genetic variation at putatively peutral sites across the human genome
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Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets
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Estimation of allele frequency and association mapping using next-generation sequencing data
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Latest publications
Genome-wide association study of preserved ratio impaired spirometry (PRISm)
Research output: Contribution to journal › Journal article › Research › peer-review
Variants at the Interleukin 1 Gene Locus and Pericarditis
Research output: Contribution to journal › Journal article › Research › peer-review
Change in abdominal obesity after colon cancer surgery – effects of left-sided and right-sided colonic resection
Research output: Contribution to journal › Journal article › Research › peer-review