- 2023
- 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
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
A literature review of evidence for primary prevention of overweight and obesity in healthy weight children and adolescents: A report produced by a working group of the Danish Council on Health and Disease Prevention
Olsen, N. J., Østergaard, J. N., Bjerregaard, L. G., Høy, T. V., Kierkegaard, L., Michaelsen, Kim F., Sørensen, Thorkild I.A., Grønbæk, M. K., Bruun, J. M. & Heitmann, Berit, 2023, In: Obesity Reviews. 25, 1, 10 p., e13641.Research output: Contribution to journal › Review › 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
- Published
A novel splice-affecting HNF1A variant with large population impact on diabetes in Greenland
Thuesen, A. C. B., Stæger, F. F., Kaci, A., Solheim, M. H., Aukrust, I., Jørsboe, E., Santander, C. G., Andersen, M. K., Li, Z., Gilly, A., Stinson, S. E., Gjesing, A. P., Bjerregaard, P., Pedersen, M. L., Larsen, C. V. L., Grarup, N., Jørgensen, M. E., Zeggini, E., Bjørkhaug, L., Njølstad, P. R. & 3 others, , 2023, In: The Lancet Regional Health - Europe. 24, 12 p., 100529.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Alteration of Gut Microbiome in Patients With Schizophrenia Indicates Links Between Bacterial Tyrosine Biosynthesis and Cognitive Dysfunction
Thirion, F., Speyer, H., Hansen, T. H., Nielsen, T., Fan, Y., Le Chatelier, E., Fromentin, S., Berland, M., Plaza Oñate, F., Pons, N., Galleron, N., Levenez, F., Markó, L., Birkner, T., Jørgensen, T., Forslund, S. K., Vestergaard, H., Hansen, T., Nordentoft, M., Mors, O. & 3 others, , 2023, In: Biological Psychiatry Global Open Science. 3, 2, p. 283-291 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
An adiposity force induces obesity in humans independently of a normal energy balance system-a thought experiment
Sørensen, Thorkild I.A., 2023, In: Philosophical transactions of the Royal Society of London. Series B, Biological sciences. 378, 1885, 9 p., 20220203.Research output: Contribution to journal › Review › Research › peer-review
- Published
An adult-based genetic risk score for liver fat associates with liver and plasma lipid traits in children and adolescents
Huang, Yun, Stinson, Sara, Juel, H. B., Lund, M. A. V., Holm, Louise Aas, Fonvig, Cilius Esmann, Nielsen, T., Grarup, Niels, Pedersen, Oluf Borbye, Christiansen, M., Chabanova, E., Thomsen, Henrik S., Krag, A., Stender, S., Holm, Jens-Christian & Hansen, Torben, 2023, In: Liver International. 43, 8, p. 1772-1782 11 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
An organoid-based CRISPR-Cas9 screen for regulators of intestinal epithelial maturation and cell fate
Hansen, Stine Lind, Larsen, Hjalte List, Pikkupeura, Laura Maarit, Maciag, Grzegorz Jerzy, Guiu, J., Müller, I., Clement, Ditte Lynge, Mueller, C., Johansen, Jens Vilstrup, Helin, K., Lerdrup, Mads & Jensen, Kim Bak, 2023, In: Science Advances. 9, 28, 18 p., eadg4055.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Analysis of DNA methylation at birth and in childhood reveals changes associated with season of birth and latitude
Kadalayil, L., Alam, M. Z., White, C. H., Ghantous, A., Walton, E., Gruzieva, O., Merid, S. K., Kumar, A., Roy, R. P., Solomon, O., Huen, K., Eskenazi, B., Rzehak, P., Grote, V., Langhendries, J. P., Verduci, E., Ferre, N., Gruszfeld, D., Gao, L., Guan, W. & 83 others, , 2023, In: Clinical Epigenetics. 15, 23 p., 148.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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Interaction of genetic risk and lifestyle on the incidence of atrial fibrillation
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Islet autoantibodies as precision diagnostic tools to characterize heterogeneity in type 1 diabetes: a systematic review
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Genome-wide association study of preserved ratio impaired spirometry (PRISm)
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