- 2023
- 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
Whole exome sequencing identified a novel splice donor site variant in interleukin 2 receptor alpha chain
Waheed, N., Naseer, M., Haider, N., Suleman, Sufyan & Ullah, A., 2023, In: Immunogenetics. 75, p. 71-79Research output: Contribution to journal › Journal article › Research › peer-review
- 2022
- Published
14-fold increased prevalence of rare glucokinase gene variant carriers in unselected Danish patients with newly diagnosed type 2 diabetes
Gjesing, A. P., Engelbrechtsen, L., Cathrine B. Thuesen, A., Have, C. T., Hollensted, M., Grarup, N., Linneberg, A., Steen Nielsen, J., Christensen, L. B., Thomsen, R. W., Johansson, K. E., Cagiada, M., Gersing, S., Hartmann-Petersen, R., Lindorff-Larsen, K., Vaag, A., Sørensen, H. T., Brandslund, I., Beck-Nielsen, H., Pedersen, O. & 2 others, , 2022, In: Diabetes Research and Clinical Practice. 194, 9 p., 110159.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment
Bharadwaj, T., Schrauwen, I., Rehman, S., Liaqat, K., Acharya, A., Giese, A. P. J., Nouel-Saied, L. M., Nasir, A., Everard, J. L., Pollock, L. M., Zhu, S., Bamshad, M. J., Nickerson, D. A., Ali, R. H., Ullah, A., Wali, A., Ali, G., Santos-Cortez, R. L. P., Ahmed, Z. M., McDermott, B. M. & 4 others, , 2022, In: European Journal of Human Genetics. 30, p. 22-33Research output: Contribution to journal › Journal article › Research › peer-review
- Published
A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids
Ramdas, S., Judd, J., Graham, S. E., Kanoni, S., Wang, Y., Surakka, I., Wenz, B., Clarke, S. L., Chesi, A., Wells, A., Bhatti, K. F., Vedantam, S., Winkler, T. W., Locke, A. E., Marouli, E., Zajac, G. J. M., Wu, K. H. H., Ntalla, I., Hui, Q., Klarin, D. & 32 others, , 2022, In: American Journal of Human Genetics. 109, 8, p. 1366-1387 22 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
A novel homozygous variant in the GLI1 underlies postaxial polydactyly in a large consanguineous family with intra familial variable phenotypes
Bakar, A., Ullah, A., Bibi, N., Khan, H., Rahman, A. U., Ahmad, W. & Khan, B., 2022, In: European Journal of Medical Genetics. 65, 10, 104599.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorder
Ullah, A., Krishin, J., Haider, N., Aurangzeb, B., Abdullah, Suleman, Sufyan, Ahmad, W., Hansen, Torben & Basit, S., 2022, In: Neurogenetics. 23, p. 203-212Research output: Contribution to journal › Journal article › Research › peer-review
- Published
A saturated map of common genetic variants associated with human height
Yengo, L., Vedantam, S., Marouli, E., Sidorenko, J., Bartell, E., Sakaue, S., Graff, M., Eliasen, A. U., Jiang, Y., Raghavan, S., Miao, J., Arias, J. D., Graham, S. E., Mukamel, R. E., Spracklen, C. N., Yin, X., Chen, S-H., Ferreira, T., Highland, H. H., Ji, Y. & 37 others, , 2022, In: Nature. 610, p. 704–712Research output: Contribution to journal › Journal article › Research › peer-review
- Published
An LDLR missense variant poses high risk of familial hypercholesterolemia in 30% of Greenlanders and offers potential of early cardiovascular disease intervention
Jørsboe, E., Andersen, M. K., Skotte, L., Stæger, F. F., Færgeman, N. J., Hanghøj, K., Santander, C. G., Senftleber, N. K., Diaz, L. J., Overvad, M., Waples, R. K., Geller, F., Bjerregaard, P., Melbye, M., Larsen, C. V. L., Feenstra, B., Anders Koch, K., Jørgensen, M. E., Grarup, N., Moltke, I. & 2 others, , 2022, In: Human Genetics and Genomics Advances. 3, 4, 10 p., 100118.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
An adult-based genetic risk score for hepatic fat associates with liver and lipid traits in Danish children and adolescents
Huang, Yun, Stinson, Sara, Juel, H. B., Lund, Morten Asp Vonsild, Holm, L. A., Fonvig, Cilius Esmann, Grarup, Niels, Pedersen, Oluf Borbye, Christiansen, Michael, Krag, A., Stender, S., Holm, Jens-Christian & Hansen, Torben, 2022, In: Journal of Hepatology. 77, p. S450-S450 1 p., FRI104.Research output: Contribution to journal › Conference abstract in journal › Research
- Published
An integrated model of obesity pathogenesis that revisits causal direction
Ludwig, D. S. & Sørensen, Thorkild I.A., 2022, In: Nature Reviews Endocrinology. 18, p. 261-262 2 p.Research output: Contribution to journal › Editorial › Research › peer-review
- Published
Association of general health and lifestyle factors with the salivary microbiota – Lessons learned from the ADDITION-PRO cohort
Poulsen, C. S., Nygaard, Nikoline, Constancias, F., Stankevic, Evelina, Kern, T., Witte, D. R., Vistisen, D., Grarup, Niels, Pedersen, Oluf Borbye, Midjord-Belstrøm, Daniel & Hansen, Torben, 2022, In: Frontiers in Cellular and Infection Microbiology. 12, 15 p., 1055117.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Association of milk intake with hay fever, asthma, and lung function: a Mendelian randomization analysis
Skaaby, T., Kilpeläinen, Tuomas O., Mahendran, Y., Huang, L. O., Sallis, H., Thuesen, B. H., Kårhus, L. L., Leth-Møller, K. B., Grarup, Niels, Hansen, Torben, Pedersen, Oluf Borbye, Burgess, S., Munafò, M. R. & Linneberg, Allan René, 2022, In: European Journal of Epidemiology. 37, p. 713-722Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Binge drinking induces an acute burst of markers of hepatic fibrogenesis (PRO-C3)
Torp, N., Israelsen, M., Nielsen, M. J., Åstrand, C. P., Juhl, P., Johansen, S., Hansen, C. D., Madsen, B., Villesen, I. F., Leeming, D. J., Thiele, M., Hansen, Torben, Karsdal, M. & Krag, A., 2022, In: Liver International. 42, 1, p. 92-101Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Changing genetic architecture of body mass index from infancy to early adulthood: an individual based pooled analysis of 25 twin cohorts
Silventoinen, K., Li, W., Jelenkovic, A., Sund, R., Yokoyama, Y., Aaltonen, S., Piirtola, M., Sugawara, M., Tanaka, M., Matsumoto, S., Baker, L. A., Tuvblad, C., Tynelius, P., Rasmussen, F., Craig, J. M., Saffery, R., Willemsen, G., Bartels, M., van Beijsterveldt, C. E. M., Martin, N. G. & 37 others, , 2022, In: International Journal of Obesity. 46, p. 1901–1909 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Circulating Soluble CD163, Associations With Cardiovascular Outcomes and Mortality, and Identification of Genetic Variants in Older Individuals: The Cardiovascular Health Study
Durda, P., Raffield, L. M., Lange, E. M., Olson, N. C., Jenny, N. S., Cushman, M., Deichgraeber, P., Grarup, Niels, Jonsson, Anna Elisabet, Hansen, Torben, Mychaleckyj, J. C., Psaty, B. M., Reiner, A. P., Tracy, R. P. & Lange, L. A., 2022, In: Journal of the American Heart Association. 11, 21, 14 p., e024374.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Clinical and genetic characterization of patients segregating variants in KPTN, MINPP1, NGLY1, AP4B1, and SON underlying neurodevelopmental disorders: Genetic and phenotypic expansion
Ullah, A., Shah, A. A., Alluqmani, M., Haider, N., Aman, H., Alfadhli, F., Almatrafi, A. M., Albalawi, A. M., Krishin, J., Ullah Khan, F., Anjam, B. A., Abdullah, Peña Lozano, Elionora, Samad, A., Ahmad, W., Hansen, Torben, Xia, K. & Basit, S., 2022, In: International Journal of Developmental Neuroscience. 82, 8, p. 788-804Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Do gene-environment interactions have implications for the precision prevention of type 2 diabetes?
Sørensen, Thorkild I.A., Metz, Sophia & Kilpeläinen, Tuomas O., 2022, In: Diabetologia. 65, p. 1804–1813 10 p.Research output: Contribution to journal › Review › Research › peer-review
- Published
Early detection of childhood overweight and related complications in a Danish population-based cohort aged 2–8 years
Frithioff-Bøjsøe, C., Lund, Morten Asp Vonsild, Lausten-Thomsen, U., Fonvig, Cilius Esmann, Lankjær, I. O. J., Hansen, T., Hansen, Torben, Baker, J. L. & Holm, Jens-Christian, 2022, In: Obesity Research and Clinical Practice. 16, 3, p. 228-234 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Effects of 18-months metformin versus placebo in combination with three insulin regimens on RNA and DNA oxidation in individuals with type 2 diabetes: A post-hoc analysis of a randomized clinical trial
Larsen, E. L., Kjær, L. K., Lundby-Christensen, L., Boesgaard, T. W., Breum, Leif, Gluud, C., Hedetoft, C., Krarup, T., Lund, S. S., Mathiesen, Elisabeth, Perrild, Hans, Sneppen, S. B., Tarnow, L., Thorsteinsson, B., drb459, drb459, Poulsen, Henrik Enghusen, Madsbad, Sten & Almdal, Thomas Peter, 2022, In: Free Radical Biology and Medicine. 178, p. 18-25 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Efficient approaches for large-scale GWAS with genotype uncertainty
Jørsboe, E. & Albrechtsen, Anders, 2022, In: G3: Genes, Genomes, Genetics (Bethesda). 12, 1, 9 p., jkab385.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Exome Sequencing Revealed a Novel Splice Site Variant in the CRB2 Gene Underlying Nephrotic Syndrome
Simaab, A., Krishin, J., Alaradi, S. R., Haider, N., Shah, M., Ullah, A., Abdullah, A., Ahmad, W., Hansen, Torben & Basit, S., 2022, In: Medicina. 58, 12, 9 p., 1784.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Exome sequencing reveals the first intragenic deletion in ABCA5 underlying autosomal recessive hypertrichosis
Raza, R., Ullah, A., Haider, N., Krishin, J., Shah, M., Khan, F. U., Abdullah, Hansen, Torben, Raza, S. I., Ahmad, W. & Basit, S., 2022, In: Clinical and Experimental Dermatology. 47, 6, p. 1137-1143Research output: Contribution to journal › Journal article › Research › peer-review
- Published
External validation of a genetic risk score that predicts development of alcohol-related cirrhosis
Johansen, S., Thiele, M., Juel, H. B., Hansen, Torben & Krag, A., 2022, In: Journal of Hepatology. 77, 6, p. 1720-1721 2 p.Research output: Contribution to journal › Comment/debate › Research
- Published
Four groups of type 2 diabetes contribute to the etiological and clinical heterogeneity in newly diagnosed individuals: An IMI DIRECT study
Wesolowska-Andersen, A., Brorsson, C. A., Bizzotto, R., Mari, A., Tura, A., Koivula, R., Mahajan, A., Vinuela, A., Tajes, J. F., Sharma, S., Haid, M., Prehn, C., Artati, A., Hong, M. G., Musholt, P. B., Kurbasic, A., Masi, F. D., Tsirigos, K., Pedersen, H. K., Gudmundsdottir, V. & 31 others, , 2022, In: Cell Reports Medicine. 3, 1, 25 p., 100477.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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Genome-wide association study of preserved ratio impaired spirometry (PRISm)
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Variants at the Interleukin 1 Gene Locus and Pericarditis
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