- 2023
- Published
Usefulness of Heat Map Explanations for Deep-Learning-Based Electrocardiogram Analysis
Storås, A. M., Andersen, O. E., Lockhart, S., Thielemann, Roman, Gnesin, Filip Jurijevitj, Thambawita, Vajira Lasantha Bandara, Hicks, S. A., Kanters, Jørgen K., Strümke, I., Halvorsen, P. & Riegler, M. A., 2023, In: Diagnostics. 13, 14, 11 p., 2345.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
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
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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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