KI, OUH, Forskningsenhed for Human Genetik (Odense)

Publikationer

Publikationer pr. år 1981 2011 2012 2013 2014 2015 2016 2017 2018 2019 2020 2021 2022 2023

• 1118 Tidsskriftartikel
• 114 Konferenceabstrakt i tidsskrift
• 86 Poster
• 53 Konferenceabstrakt til konference
• 104 Mere
  • 30 Kapitel i bog
  • 28 Kommentar/debat
  • 20 Ph.d.-afhandling
  • 6 Konferenceartikel
  • 4 Konferencebidrag i proceedings
  • 4 Andet bidrag
  • 3 Paper
  • 1 Antologi
  • 1 Monografi
  • 1 Rapport
  • 1 Konferenceabstrakt i proceedings
  • 1 Bidrag til kompendium/lecture notes
  • 1 Encyklopædiartikel
  • 1 Leder
  • 1 Lyd- og/eller billedproduktion (digital)
  • 1 Udgivelser på nettet - Net-publikation

Publikationer pr. år

Publikationer pr. år

Søgeresultater

• 2023

  A Review of Major Danish Biobanks: Advantages and Possibilities of Health Research in Denmark

  Laugesen, K., Mengel-From, J., Christensen, K., Olsen, J., Hougaard, D. M., Boding, L., Olsen, A., Erikstrup, C., Hetland, M. L., Høgdall, E., Kjaergaard, A. D., Sørensen, E., Brügmann, A., Petersen, E. R. B., Brandslund, I., Nordestgaard, B. G., Jensen, G. B., Skajaa, N., Troelsen, F. S., Fuglsang, C. H., & 2 flereSvingel, L. S. & Sørensen, H. T., 2023, I: Clinical Epidemiology. 15, s. 213-239

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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  • Denmark 100%
  • Registries 74%
  • Population Health 50%
  • Health 45%
  • Databases 42%
  2 Downloads (Pure)

• Compassionomics: Værdien af compassion i sundhedsvæsenet

  Fulton, S. J., Svenningsen, L. B. & Bygum, A., feb. 2023, I: Månedsskrift for Almen Praksis. 2023, Februar, s. 142-148

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Formidling

• Compromised PAR1 activation - a cause for bleeding in X-men?

  Nielsen, C., Nilsson, C., Assing, K., Herlin, M. K. K., Skakkebæk, A., Larsen, M., Rathe, M., Beck, H. C. & Vinholt, P. J., 31. jan. 2023, (E-pub ahead of print) I: Thrombosis and Haemostasis.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Hemorrhage 100%

• Differential expression of checkpoint markers in the normoxic and hypoxic microenvironment of glioblastomas

  Petterson, S. A., Sørensen, M. D., Burton, M., Thomassen, M., Kruse, T. A., Michaelsen, S. R. & Kristensen, B. W., jan. 2023, I: Brain Pathology. 33, 1, 14 s., e13111.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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  • Glioblastoma 100%
  • Hypoxia 79%
  • Atlases 43%
  • Down-Regulation 28%
  • Staining and Labeling 26%
  6 Downloads (Pure)

• Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort

  Vollstedt, E. J., Schaake, S., Lohmann, K., Padmanabhan, S., Brice, A., Lesage, S., Tesson, C., Vidailhet, M., Wurster, I., Hentati, F., Mirelman, A., Giladi, N., Marder, K., Waters, C., Fahn, S., Kasten, M., Brüggemann, N., Borsche, M., Foroud, T., Tolosa, E., & 31 flereGarrido, A., Annesi, G., Gagliardi, M., Bozi, M., Stefanis, L., Ferreira, J. J., Correia Guedes, L., Avenali, M., Petrucci, S., Clark, L., Fedotova, E. Y., Abramycheva, N. Y., Alvarez, V., Menéndez-González, M., Jesús Maestre, S., Gómez-Garre, P., Mir, P., Belin, A. C., Ran, C., Lin, C. H., Kuo, M. C., Crosiers, D., Wszolek, Z. K., Ross, O. A., Jankovic, J., Nishioka, K., Funayama, M., Clarimon, J., Hertz, J. M., Petersen, M. S. & the MJFF Global Genetic Parkinson's Disease Study Group, feb. 2023, I: Movement Disorders. 38, 2, s. 286-303

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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  • Inborn Genetic Diseases 100%
  • Parkinson Disease 90%
  • Clinical Trials 15%
  • Heterozygote 12%
  • Genetic Therapy 11%
  1 Downloads (Pure)

• En sjælden differentialdiagnose til vorter: Ugens billede

  Gram, S. B., Brusgaard, K., Ousager, L. B. & Bygum, A., 2023, (E-pub ahead of print) I: Ugeskrift for Laeger. V71166.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Formidling

• En sjælden differentialdiagnose til vorter

  Gram, S. B., Brusgaard, K., Ousager, L. B. & Bygum, A., 27. feb. 2023, I: Ugeskrift for Laeger. 185, 9

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

• Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway

  Delanne, J., Lecat, M., Blackburn, P. R., Klee, E. W., Stumpel, C. T. R. M., Stegmann, S., Stevens, S. J. C., Nava, C., Heron, D., Keren, B., Mahida, S., Naidu, S., Babovic-Vuksanovic, D., Herkert, J. C., Torring, P. M., Kibæk, M., De Bie, I., Pfundt, R., Hendriks, Y. M. C., Ousager, L. B., & 15 flereBend, R., Warren, H., Skinner, S. A., Lyons, M. J., Pöe, C., Chevarin, M., Jouan, T., Garde, A., Thomas, Q., Kuentz, P., Tisserant, E., Duffourd, Y., Philippe, C., Faivre, L. & Thauvin-Robinet, C., jan. 2023, I: European Journal of Medical Genetics. 66, 1, 7 s., 104670.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Leukemia 100%
  • Genes 49%
  • Intellectual Disability 34%
  • Megalencephaly 34%
  • Language Development Disorders 32%

• Improving the understanding and prediction of chemotherapy-induced peripheral neuropathy

  Mortensen, C., 17. mar. 2023, Syddansk Universitet. Det Sundhedsvidenskabelige Fakultet. 190 s.

  Publikation: Afhandling › Ph.d.-afhandling

  • Peripheral Nervous System Diseases 100%
  • Drug Therapy 55%
  • Paclitaxel 32%
  • Sensory Receptor Cells 29%
  • Intermediate Filaments 24%

• Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease–gene association

  Cesana, M., Vaccaro, L., Larsen, M. J., Kibæk, M., Micale, L., Riccardo, S., Annunziata, P., Colantuono, C., Di Filippo, L., De Brasi, D., Castori, M., Fagerberg, C., Acquaviva, F. & Cacchiarelli, D., mar. 2023, I: Human Genetics. 142, 3, s. 343-350

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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  • Exome 100%
  • Autism Spectrum Disorder 86%
  • Gene Expression Profiling 86%
  • Neurodevelopmental Disorders 65%
  • Genes 33%
  2 Downloads (Pure)

• Juvenile spring eruption: Ugens billede

  Drivenes, J. L. & Bygum, A., 23. jan. 2023, I: Ugeskrift for Laeger. 185, 2, V71135.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Formidling

• Keratosis pilaris

  Drivenes, J. L., Vasilescu, I. C. & Bygum, A., 7. mar. 2023, (E-pub ahead of print) I: Tidsskrift for den Norske laegeforening.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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• nanoNIPT: Short-fragment nanopore sequencing of cell-free DNA for non-invasive prenatal testing of fetal aneuploidies and sex chromosome aberrations

  Jørgensen, M. W., Miceikaitė, I. & Larsen, M. J., mar. 2023, I: Prenatal Diagnosis. 43, 3, s. 314-317

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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• Ploidy-stratified single cardiomyocyte transcriptomics map Zinc Finger E-Box Binding Homeobox 1 to underly cardiomyocyte proliferation before birth

  Bak, S. T., Harvald, E. B., Ellman, D. G., Mathiesen, S. B., Chen, T., Fang, S., Andersen, K. S., Fenger, C. D., Burton, M., Thomassen, M. & Andersen, D. C., mar. 2023, (E-pub ahead of print) I: Basic Research in Cardiology. 118, 1, 8.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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  • Zinc Finger E-box-Binding Homeobox 1 100%
  • Ploidies 73%
  • Cardiac Myocytes 56%
  • Parturition 42%
  • Endoreduplication 10%

• Rare Genetic Variants Correlate with Better Processing Speed

  Song, Z., Gurinovich, A., Nygaard, M., Mengel-From, J., Andersen, S. L., Cosentino, S., Schupf, N., Lee, J. H., Zmuda, J. M., Ukraintseva, S. V., Arbeev, K. G., Christensen, K., Perls, T. & Sebastiani, P., 2023, (E-pub ahead of print) I: Neurobiology of Aging.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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• Ryanodine receptor 1 related myasthenia like myopathy responsive to pyridostigmine

  Lester, E. B., Larsen, M. J., Laulund, L. W., Illum, N., Dunkhase-Heinl, U., Schrøder, H. D. & Fagerberg, C. R., mar. 2023, I: European Journal of Medical Genetics. 66, 3, 104706.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Pyridostigmine Bromide 100%
  • Ryanodine Receptor Calcium Release Channel 84%
  • Muscular Diseases 73%
  • Muscle Weakness 48%
  • Myotonia Congenita 33%

• Telomersygdomme

  Byrjalsen, A., Bygum, A., Lautrup, C. K., Frederiksen, A. L., Fialla, A., Kræsten Raaschou Jensen, K., Bendstrup, E., Masmas, T. N., Klarskov, M. & Jelsig, A. M., jan. 2023, I: Ugeskrift for Laeger. 185, 1, V03220220.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Telomere 100%
  • DNA 16%
  • Chromosomes 11%
  • Fibrosis 11%
  • Lung 8%

• The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

  Aerden, M., Denommé-Pichon, A. S., Bonneau, D., Bruel, A. L., Delanne, J., Gérard, B., Mazel, B., Philippe, C., Pinson, L., Prouteau, C., Putoux, A., Tran Mau-Them, F., Viora-Dupont, É., Vitobello, A., Ziegler, A., Piton, A., Isidor, B., Francannet, C., Maillard, P. Y., Julia, S., & 38 flerePhilippe, A., Schaefer, E., Koene, S., Ruivenkamp, C., Hoffer, M., Legius, E., Theunis, M., Keren, B., Buratti, J., Charles, P., Courtin, T., Misra-Isrie, M., van Haelst, M., Waisfisz, Q., Wieczorek, D., Schmetz, A., Herget, T., Kortüm, F., Lisfeld, J., Debray, F. G., Bramswig, N. C., Atallah, I., Fodstad, H., Jouret, G., Almoguera, B., Tahsin-Swafiri, S., Santos-Simarro, F., Palomares-Bralo, M., López-González, V., Kibaek, M., Tørring, P. M., Renieri, A., Bruno, L. P., Õunap, K., Wojcik, M., Hsieh, T. C., Krawitz, P. & Van Esch, H., 7. feb. 2023, (E-pub ahead of print) I: European Journal of Human Genetics.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Clark-Baraitser syndrome 100%
  • Eyelids 99%
  • Deep Learning 65%
  • Haploinsufficiency 61%
  • Phenotype 57%

• Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip

  Dembic, M., van Brakel Andersen, L., Larsen, M. J., Mechlenburg, I., Søballe, K. & Hertz, J. M., mar. 2023, I: Molecular Genetics and Genomics. 298, 2, s. 329-342

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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  • Hip Dislocation 100%
  • Whole Exome Sequencing 96%
  • Genes 32%
  • Hip 22%
  • Developmental Genes 18%
• 2022

  A girl with unruly locks: molecular genetics makes a diagnosis of uncombable hair syndrome

  Drivenes, J. L., Betz, R. C. & Bygum, A., 12. mar. 2022, I: The Lancet. 399, 10329, s. 1079 1 s.

  Publikation: Bidrag til tidsskrift › Kommentar/debat › Formidling

• Analysis of genetic and environmental correlation between leisure activities and cognitive function in aging Chinese twins

  Xu, C., Wang, C., Tian, X., Wu, Y., Zhang, D., Pang, Z., Li, S. & Tan, Q., 2022, I: Aging & Mental Health. 26, 3, s. 493-498

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Leisure Activities 100%
  • Twins 95%
  • Cognition 71%
  • Middle Aged 18%
  • Cognitive Aging 12%

• Ane Riels roman Urværk og gerontologiens ukendte

  Freisleben Lund, N., Jensen, S. G., Christensen, K., Petersen, K., Søndergaard, J., Jensen, T. M., Berg, A. H., Mai, A. M., Pedersen, J. K. & Simonsen, P., 25. nov. 2022, (E-pub ahead of print) I: Gerontologi. 12 s.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

• A new transgene mouse model using an extravesicular EGFP tag enables affinity isolation of cell-specific extracellular vesicles

  Nørgård, M. Ø., Steffensen, L. B., Hansen, D. R., Füchtbauer, E-M., Engelund, M. B., Dimke, H., Andersen, D. C. & Svenningsen, P., 11. jan. 2022, I: Scientific Reports. 12, 13 s., 496.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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  • enhanced green fluorescent protein 100%
  • Extracellular Vesicles 94%
  • Cell Separation 94%
  • Transgenes 81%
  • Immunoprecipitation 12%
  24 Downloads (Pure)

• A Novel AQP2 Sequence Variant Causing Aquaporin-2 Retention in the Cytoplasm and Autosomal Dominant Nephrogenic Diabetes Insipidus

  Hinrichs, G. R., Baltzer, S., Pallien, T., Svenningsen, P., Dalgaard, E. B., Hertz, J. M., Bistrup, C., Jensen, B. L. & Klussmann, E., okt. 2022, I: Kidney International Reports. 7, 10, s. 2289-2294

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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• A phototoxic drug reaction due to topical NSAIDs

  Drivenes, J. L., Berg-Jensen, M. & Bygum, A., jan. 2022, I: Clinical Case Reports. 10, 1, e05251.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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  • Dicloxacillin 100%
  • Clobetasol 90%
  • Drug Eruptions 82%
  • Hypopigmentation 82%
  • Cellulitis 71%
  10 Downloads (Pure)

• A Signature of Exaggerated Adipose Tissue Dysfunction in Type 2 Diabetes Is Linked to Low Plasma Adiponectin and Increased Transcriptional Activation of Proteasomal Degradation in Muscle

  Sabaratnam, R., Skov, V., Paulsen, S. K., Juhl, S., Kruse, R., Hansen, T., Halkier, C., Kristensen, J. M., Vind, B. F., Richelsen, B., Knudsen, S., Dahlgaard, J., Beck-Nielsen, H., Kruse, T. A. & Højlund, K., 1. jul. 2022, I: Cells. 11, 13, 18 s., 2005.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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  • Adiponectin 100%
  • Insulin Derivative 56%
  • Transcriptional Activation 50%
  • Adipose Tissue 46%
  • Type 2 Diabetes Mellitus 41%
  6 Downloads (Pure)

• Assessment and experimental treatment of breast cancer-related lymphedema with adipose-derived regenerative cells and lipotransfer

  Bidragets oversatte titel: Undersøgelse og eksperimentel behandling af lymfødem efter brystkræft med fedt-deriverede celler og fedttransplantationGustaf Jørgensen, M., 11. apr. 2022, Syddansk Universitet. Det Sundhedsvidenskabelige Fakultet. 173 s.

  Publikation: Afhandling › Ph.d.-afhandling

  • Breast Cancer Lymphedema 100%
  • Lymphedema 19%
  • Cellulitis 9%
  • Fats 9%
  • Patient Reported Outcome Measures 8%

• Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals

  Basmanav, F. B., Cesarato, N., Kumar, S., Borisov, O., Kokordelis, P., Ralser, D. J., Wehner, M., Axt, D., Xiong, X., Thiele, H., Dolgin, V., Gossmann, Y., Fricker, N., Dewenter, M. K., Weller, K., Suri, M., Reichenbach, H., Oji, V., Addor, M. C., Ramirez, K., & 25 flereStewart, H., Garcia Bartels, N., Weibel, L., Wagner, N., George, S., Kilic, A., Tantcheva-Poor, I., Stewart, A., Dikow, N., Blaumeiser, B., Medvecz, M., Blume-Peytavi, U., Farrant, P., Grimalt, R., Bertok, S., Bradley, L., Eskin-Schwartz, M., Birk, O. S., Bygum, A., Simon, M., Krawitz, P., Fischer, C., Hamm, H., Fritz, G. & Betz, R. C., 16. nov. 2022, I: JAMA Dermatology. 158, 11, s. 1245-1253

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Uncombable hair syndrome 100%
  • Hair 24%
  • Molecular Biology 10%
  • Founder Effect 8%
  • Cohort Studies 8%

• Association of serum surfactant protein D and SFTPD gene variants with asthma in Danish children, adolescents, and young adults

  Hoffmann-Petersen, B., Suffolk, R., Petersen, J. J. H., Petersen, T. H., Brasch-Andersen, C., Høst, A., Halken, S., Sorensen, G. L. & Agertoft, L., feb. 2022, I: Immunity, Inflammation and Disease. 10, 2, s. 189-200 12 s.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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  • Pulmonary Surfactant-Associated Protein D 100%
  • Blood Proteins 60%
  • Young Adult 55%
  • Asthma 53%
  • Child 29%
  12 Downloads (Pure)

• Bone Deformities and Kidney Failure: Coincidence of PHEX-Related Hypophosphatemic Rickets and m.3243A>G Mitochondrial Disease

  Nielsen, S. R., Hansen, S. G., Bistrup, C., Brusgaard, K. & Frederiksen, A. L., dec. 2022, I: Calcified Tissue International. 111, 6, s. 641-645

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Familial Hypophosphatemic Rickets 100%
  • Endopeptidases 88%
  • Mitochondrial Diseases 80%
  • Renal Insufficiency 56%
  • Phosphates 55%

• Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

  GEMO Study Collaborators, Kristensen, L. K., Jensen, U. B., Lautrup, C. K. & Høgh Petersen, A., jan. 2022, I: National Cancer Institute. Journal (Online). 114, 1, s. 109-122 djab147.

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  • Prostatic Neoplasms 100%
  • Breast Neoplasms 80%
  • Odds Ratio 21%
  • Confidence Intervals 20%
  • Estrogen Receptors 15%
  5 Downloads (Pure)

• Burden and prevalence of risk factors for severe COVID-19 in the ageing European population – a SHARE-based analysis

  Ahrenfeldt, L. J., Nielsen, C. R., Möller, S., Christensen, K. & Lindahl-Jacobsen, R., 2022, I: Journal of Public Health. 30, 9, s. 2081-2090

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  • Coronavirus 100%
  • Retirement 94%
  • Health Surveys 76%
  • retirement 75%
  • health 36%
  55 Downloads (Pure)

• Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

  Li, S., Silvestri, V., Leslie, G., Rebbeck, T. R., Neuhausen, S. L., Hopper, J. L., Nielsen, H. R., Lee, A., Yang, X., McGuffog, L., Parsons, M. T., Andrulis, I. L., Arnold, N., Belotti, M., Borg, Å., Buecher, B., Buys, S. S., Caputo, S. M., Chung, W. K., Colas, C., & 82 flereColonna, S. V., Cook, J., Daly, M. B., de la Hoya, M., de Pauw, A., Delhomelle, H., Eason, J., Engel, C., Evans, D. G., Faust, U., Fehm, T. N., Fostira, F., Fountzilas, G., Frone, M., Garcia-Barberan, V., Garre, P., Gauthier-Villars, M., Gehrig, A., Glendon, G., Goldgar, D. E., Golmard, L., Greene, M. H., Hahnen, E., Hamann, U., Hanson, H., Hassan, T., Hentschel, J., Horvath, J., Izatt, L., Janavicius, R., Jiao, Y., John, E. M., Karlan, B. Y., Kim, S-W., Konstantopoulou, I., Kwong, A., Laugé, A., Lee, J. W., Lesueur, F., Mebirouk, N., Meindl, A., Mouret-Fourme, E., Musgrave, H., Ngeow Yuen Yie, J., Niederacher, D., Park, S. K., Pedersen, I. S., Ramser, J., Ramus, S. J., Rantala, J., Rashid, M. U., Reichl, F., Ritter, J., Rump, A., Santamariña, M., Saule, C., Schmidt, G., Schmutzler, R. K., Senter, L., Shariff, S., Singer, C. F., Southey, M. C., Stoppa-Lyonnet, D., Sutter, C., Tan, Y., Teo, S. H., Terry, M. B., Thomassen, M., Tischkowitz, M., Toland, A. E., Torres, D., Vega, A., Wagner, S. A., Wang-Gohrke, S., Wappenschmidt, B., Weber, B. H. F., Yannoukakos, D., Spurdle, A. B., Easton, D. F., Chenevix-Trench, G., Ottini, L. & Antoniou, A. C., 10. maj 2022, I: Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 40, 14, s. 1529-1541

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  • Neoplasms 100%
  • Breast 88%
  • Risk Management 84%
  • Stomach 83%
  • Pancreatic Neoplasms 73%

• Candidate genes and sequence variants for susceptibility to mycobacterial infection identified by whole-exome sequencing

  Varzari, A., Deyneko, I. V., Bruun, G. H., Dembic, M., Hofmann, W., Cebotari, V. M., Ginda, S. S., Andresen, B. S. & Illig, T., 20. okt. 2022, I: Frontiers in Genetics. 13, 969895.

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  • Whole Exome Sequencing 100%
  • Infections 40%
  • Genes 33%
  • Mutation 23%
  • Moldova 23%
  1 Downloads (Pure)

• Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures

  Sølyst, S., Oksjoki, R., Farholt, S., Nielsen, D. G., Christensen, A. H., Fagerberg, C. R., Risom, L., Gregersen, P. A., Christensen, M. B., Rasmussen, T. B. & Diness, B. R., sep. 2022, I: Clinical Genetics. 102, 3, s. 191-200

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  • Elective Surgical Procedures 100%
  • Denmark 70%
  • Blood Vessels 26%
  • Phenotype 19%
  • Rupture 9%
  30 Downloads (Pure)

• Circulating microRNAs related to lipid metabolism and solid tissue maintenance and morphology associate with mortality in elderly twins

  Mengel-From, J., Nielsen, K. E., Clemmensen, S. B., Feddersen, S., Christensen, K., Hjelmborg, J. V. B., Tan, Q. & Nygaard, M., nov. 2022, I: Experimental Gerontology. 169, 9 s., 111980.

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  • Circulating MicroRNA 100%
  • Twins 75%
  • Lipid Metabolism 68%
  • MicroRNAs 60%
  • Maintenance 50%
  4 Downloads (Pure)

• Circulating Tumor DNA in Patients with Renal Cell Carcinoma. A Systematic Review of the Literature

  Geertsen, L., Koldby, K. M., Thomassen, M., Kruse, T. & Lund, L., mar. 2022, I: European Urology Open Science. 37, s. 27-35

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  • Circulating Tumor DNA 100%
  • Renal Cell Carcinoma 66%
  • Systematic Reviews 51%
  • Kidney Neoplasms 23%
  • Liquid Biopsy 9%
  5 Downloads (Pure)

• Clinical, splicing and functional analysis to classify BRCA2 exon 3 variants: application of a points-based ACMG/AMP approach

  Thomassen, M., Mesman, R. L. S., Hansen, T. V. O., Menendez, M., Rossing, M., Esteban-Sánchez, A., Tudini, E., Törngren, T., Parsons, M. T., Pedersen, I. S., Teo, S. H., Kruse, T. A., Møller, P., Borg, Å., Jensen, U. B., Christensen, L. L., Singer, C. F., Muhr, D., Santamarina, M., Brandao, R., & 31 flereAndresen, B. S., Feng, B-J., Canson, D., Richardson, M. E., Karam, R., Pesaran, T., LaDuca, H., Conner, B. R., Abualkheir, N., Hoang, L., Calléja, F. M. G. R., Andrews, L., James, P. A., Bunyan, D., Hamblett, A., Radice, P., Goldgar, D. E., Walker, L. C., Engel, C., Claes, K. B. M., Macháčková, E., Baralle, D., Viel, A., Wappenschmidt, B., Lazaro, C., Vega, A., Consortium, E., Vreeswijk, M. P. G., de la Hoya, M., Spurdle, A. B. & ENIGMA Consortium, dec. 2022, I: Human Mutation. 43, 12, s. 1921-1944

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  • Adenosine Monophosphate 100%
  • Exons 74%
  • RNA Splice Sites 56%
  • Mouse Embryonic Stem Cells 55%
  • Messenger RNA 51%
  7 Downloads (Pure)

• Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia

  McGlacken-Byrne, S. M., Mohammad, J. K., Conlon, N., Gubaeva, D., Siersbæk, J., Schou, A. J., Demirbilek, H., Dastamani, A., Houghton, J. A. L., Brusgaard, K., Melikyan, M., Christesen, H., Flanagan, S. E., Murphy, N. P. & Shah, P., 22. feb. 2022, I: European Journal of Endocrinology. 186, 4, s. 417-427

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  • Genetic Heterogeneity 100%
  • Hypoglycemia 81%
  • Pediatrics 54%
  • Mutation 47%
  • Diazoxide 38%

• Clinical implications of genetic testing in familial intermediate and late-onset colorectal cancer

  Djursby, M., Hansen, T. V. O., Wadt, K. A. W., Madsen, M. B., Berchtold, L. A., Lautrup, C. K., Markholt, S., Jensen, U. B., Krogh, L. N., Lundsgaard, M., Gerdes, A. M., Nilbert, M. & Therkildsen, C., dec. 2022, I: Human Genetics. 141, 12, s. 1925-1933

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  • Genetic Testing 100%
  • Colorectal Neoplasms 76%
  • Neoplasm Genes 31%
  • Hereditary Nonpolyposis Colorectal Neoplasms 25%
  • Multifactorial Inheritance 23%

• Clonal Hematopoiesis and epigenetic age acceleration in elderly Danish twins

  Sørensen, M., Tulstrup, M., Hansen, J. W., Weischenfeldt, J., Grønbæk, K. & Christensen, K., sep. 2022, I: HemaSphere. 6, 9, 6 s., e768.

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  • Hematopoiesis 100%
  • Twins 97%
  • Acceleration 89%
  • Epigenomics 80%
  • Elderly 62%
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• Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

  Hakkaart, C., Pearson, J. F., Marquart, L., Dennis, J., Wiggins, G. A. R., Barnes, D. R., Robinson, B. A., Mace, P. D., Aittomäki, K., Andrulis, I. L., Arun, B. K., Azzollini, J., Balmaña, J., Barkardottir, R. B., Belhadj, S., Berger, L., Blok, M. J., Boonen, S. E., Borde, J., Bradbury, A. R., & 35 flereBrunet, J., Buys, S. S., Caligo, M. A., Campbell, I., Chung, W. K., Claes, K. B. M., Collonge-Rame, M. A., Cook, J., Cosgrove, C., Couch, F. J., Daly, M. B., Dandiker, S., Davidson, R., de la Hoya, M., de Putter, R., Delnatte, C., Dhawan, M., Diez, O., Ding, Y. C., Domchek, S. M., Donaldson, A., Eason, J., Easton, D. F., Ehrencrona, H., Engel, C., Evans, D. G., Hansen, T. V. O., Pedersen, I. S., Rønlund, K., Thomassen, M., GEMO Study Collaborators, EMBRACE Collaborators, SWE-BRCA Investigators, kConFab Investigators & HEBON Investigators, 6. okt. 2022, I: Communications Biology. 5, 1 s., 1061.

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  • modifiers (genes) 100%
  • breast neoplasms 91%
  • Breast Neoplasms 51%
  • Modifier Genes 28%
  • confidence interval 21%
  2 Downloads (Pure)

• Delayed onset urticaria and symptomatic dermographism following COVID-19 booster vaccination: A case series

  Drivenes, J. L., Banerji, A. & Bygum, A., nov. 2022, I: Clinical and Translational Allergy. 12, 11, 4 s., e12206.

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• Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease

  Hertz, J. M., Svenningsen, P., Dimke, H., Engelund, M. B., Nørgaard, H., Hansen, A., Marcussen, N., Thiesson, H. C., Bergmann, C. & Larsen, M. J., nov. 2022, I: Pediatric Nephrology. 37, 11, s. 2657-2665

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  • Deleted in Azoospermia 1 Protein 100%
  • Polycystic Kidney Diseases 59%
  • Whole Exome Sequencing 54%
  • Mutation 25%
  • Autosomal Recessive Polycystic Kidney 18%
  10 Downloads (Pure)

• Development and validation of a 13-gene signature associated with immune function for the detection of Alzheimer's disease

  Zhu, M., Hou, T., Jia, L., Tan, Q., Qiu, C., Du, Y. & Alzheimer's Disease Neuroimaging Initiative, 31. dec. 2022, (E-pub ahead of print) I: Neurobiology of Aging.

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  • Alzheimer Disease 100%
  • Genes 51%
  • Area Under Curve 41%
  • Datasets 40%
  • Confidence Intervals 30%

• Development in life expectancy with good and poor cognitive function in the elderly European Population from 2004-05 to 2015

  Nielsen, C. R., Ahrenfeldt, L. J., Jeune, B., Christensen, K. & Lindahl-Jacobsen, R., maj 2022, I: European Journal of Epidemiology. 37, 5, s. 495-502

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  • Life Expectancy 100%
  • Cognition 79%
  • Elderly 68%
  • Population 39%
  • Retirement 20%

• Distinct gastric phenotype in patients with pathogenic variants in SMAD4: A nationwide cross-sectional study

  Jelsig, A. M., Qvist, N., Bertelsen, B., Christensen, L-L., Grossjohan, H., Lautrup, C. K., Sunde, L., Torring, P. M., Ljungman, K., Christensen, L. T. & Karstensen, J. G., 1. dec. 2022, I: Endoscopy International Open. 10, 12, s. E1537-E1543

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  • Stomach 100%
  • Cross-Sectional Studies 90%
  • Phenotype 83%
  • Gastric Polyposis 42%
  • Natural History 23%
  3 Downloads (Pure)

• En otte måneder gammel dreng med svær hypoglykæmi: Ugens billede

  Thybo Christesen, H., Globa, E., Nielsen, A. L., Hedegaard Jensen, G., Rasmussen, L., Brusgaard, K. & Mortensen, M. B., dec. 2022, I: Ugeskrift for Laeger. 184, 22, V71129.

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• Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome

  van der Laan, L., Rooney, K., Alders, M., Relator, R., McConkey, H., Kerkhof, J., Levy, M. A., Lauffer, P., Aerden, M., Theunis, M., Legius, E., Tedder, M. L., Vissers, L. E. L. M., Koene, S., Ruivenkamp, C., Hoffer, M. J. V., Wieczorek, D., Bramswig, N. C., Herget, T., González, V. L., & 15 flereSantos-Simarro, F., Tørring, P. M., Denomme-Pichon, A. S., Isidor, B., Keren, B., Julia, S., Schaefer, E., Francannet, C., Maillard, P. Y., Misra-Isrie, M., Van Esch, H., Mannens, M. M. A. M., Sadikovic, B., van Haelst, M. M. & Henneman, P., nov. 2022, I: International Journal of Molecular Sciences . 23, 22, 17 s., 13664.

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  • DNA Methylation 100%
  • methylation 95%
  • Thyroid Hormone Receptors 66%
  • Methylation 48%
  • Biomarkers 37%
  5 Downloads (Pure)

• Erratum: Publisher Correction: Stroke genetics informs drug discovery and risk prediction across ancestries (Nature (2022) 611 7934 (115-123))

  Mishra, A., Malik, R., Hachiya, T., Jürgenson, T., Namba, S., Posner, D. C., Kamanu, F. K., Koido, M., Le Grand, Q., Shi, M., He, Y., Georgakis, M. K., Caro, I., Krebs, K., Liaw, Y. C., Vaura, F. C., Lin, K., Winsvold, B. S., Srinivasasainagendra, V., Parodi, L., & 45 flereBae, H. J., Chauhan, G., Chong, M. R., Tomppo, L., Akinyemi, R., Roshchupkin, G. V., Habib, N., Jee, Y. H., Thomassen, J. Q., Abedi, V., Cárcel-Márquez, J., Nygaard, M., Leonard, H. L., Yang, C., Yonova-Doing, E., Knol, M. J., Lewis, A. J., Judy, R. L., Ago, T., Amouyel, P., Armstrong, N. D., Bakker, M. K., Bartz, T. M., Bennett, D. A., Bis, J. C., Bordes, C., Børte, S., Cain, A., Ridker, P. M., Christensen, K., PRECISE4Q Consortium, FinnGen Consortium, NINDS Stroke Genetics Network (SiGN), MEGASTROKE Consortium, SIREN Consortium, China Kadoorie Biobank Collaborative Group, VA Million Veteran Program, International Stroke Genetics Consortium (ISGC), Biobank Japan, CHARGE Consortium, GIGASTROKE Consortium, COMPASS Consortium, INVENT Consortium, Dutch Parelsnoer Initiative (PSI) Cerebrovascular Disease Study Group & Estonian Biobank, 1. dec. 2022, I: Nature. 612, 7938, s. E7 1 s.

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