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Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation.
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Genetic diversity of Lepilemur mustelinus ruficaudatus, a nocturnal lemur of Madagascar.
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Juhl-Christensen, C., Ommen, H. B., Aggerholm, A., Kjeldsen, E., Hasle, H. & Hokland, P. (2009).
Genetic and Epigenetic Events in Childhood AML - Similarities and Differences with Adult AML.
Blood, 946.
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, Pedersen, S., Hertz, J. M. & Bolund, L. (1993).
Genetic analysis of repeated, biparental, diploid, hydatidiform moles.
Cancer Genetics and Cytogenetics,
66(1), 16-22.
Væth, S., Christensen, R., Dunø, M.
, Lildballe, D. L., Thorsen, K., Vissing, J., Svenstrup, K., Hertz, J. M.
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Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform.
European Journal of Medical Genetics,
62(1), 1-8.
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Chen, M., Muyesier, M., Buchholdt, S. H., Jensen, U. B., Febbraro, F.
& Denham, M. (2020).
Generation of eight human induced pluripotent stem cell lines from Parkinson's disease patients carrying familial mutations.
Stem Cell Research,
42, Article 101657.
https://doi.org/10.1016/j.scr.2019.101657
Chen, M., Maimaitili, M., Buchholdt, S. H., Jensen, U. B., Febbraro, F. & Denham, M. (2020).
Generation of an induced pluripotent stem cell line (DANi-011A) from a Parkinson's disease patient with a LRRK2 p.G2019S mutation.
Stem Cell Research,
45, Article 101781.
https://doi.org/10.1016/j.scr.2020.101781
Meier, M., Knudsen, A. R., Andersen, K. J., Bjerregaard, N. C., Jensen, U. B. & Mortensen, F. V. (2017).
Gene expression in the liver remnant is significantly affected by the size of partial hepatectomy: An experimental rat study.
Gene Expression,
17(4), 289-299.
https://doi.org/10.3727/105221617X695825
Thomsen, A. H., Gaml-Sørensen, A., Brix, N., Ernst, A., Lunddorf, L. L. H., Strandberg-Larsen, K., Højgaard, A.
& Ramlau-Hansen, C. H. (2022).
Gender incongruence and timing of puberty: a population-based cohort study.
Fertility and Sterility,
118(5), 938-945.
https://doi.org/10.1016/j.fertnstert.2022.07.018
Christensen, L. L., Kariola, R., Korhonen, M. K.
, Wikman, F. P., Sunde, L., Gerdes, A.-M. A.
, Okkels, H., Brandt, C., Bernstein, I. T., Hansen, T. V. O.
, Hagemann-Madsen, R., Andersen, C. L., Nyström, M.
& Ørntoft, T. F. (2009).
Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients.
Familial Cancer,
8(4), 489-500.
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Caputo, S. M., Léone, M., Damiola, F., Ehlen, A., Carreira, A., Gaidrat, P., Martins, A., Brandão, R. D., Peixoto, A., Vega, A., Houdayer, C., Delnatte, C., Bronner, M., Muller, D., Castera, L., Guillaud-Bataille, M., Søkilde, I., Uhrhammer, N., Demontety, S. ... Rouleau, E. (2018).
Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.
OncoTarget,
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Ekelund, C. K., Petersen, O. B., Skibsted, L., Kjaergaard, S.
, Vogel, I., Tabor, A., The Danish Fetal Medicine Research Group
& Skovbo, P. (2011).
First trimester screening for Trisomy 21 in Denmark: Implications on detection and birth rates of Trisomy 18 and Trisomy 13.
Ultrasound in Obstetrics & Gynecology,
38(2), 140-4.
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Tenenbaum-Gavish, K., Sharabi-Nov, A., Binyamin, D.
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, Vogel, I., Koren, O., Nicolaides, K. H.
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First trimester biomarkers for prediction of gestational diabetes mellitus.
Placenta,
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Støve, H. K., Becher, N., Gjørup, V., Ramsing, M.
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First reported case of Simpson-Golabi-Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray.
Clinical Case Reports,
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Vigorito, E., Kuchenbaecker, K. B., Beesley, J., Adlard, J., Agnarsson, B. A., Andrulis, I. L., Arun, B. K., Barjhoux, L., Belotti, M., Benitez, J., Berger, A.
, Bojesen, A., Bonanni, B., Brewer, C., Caldes, T., Caligo, M. A., Campbell, I., Chan, S. B., Claes, K. B. M. ... Antoniou, A. C. (2016).
Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
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Rasmussen, M., Sunde, L., Nielsen, M. L., Ramsing, M.
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, Petersen, O. B., Jensen, U. B., Petersen, M. B. & Lidballe, D. L. (2016).
Fetal Kidney Anomalies: Next Generation Sequencing.
Rasmussen, M., Sunde, L., Nielsen, M. L., Ramsing, M.
, Petersen, A., Hjortshøj, T. D., Olsen, T. E., Tabor, A., Hertz, J. M., Johnsen, I., Sperling, L. S.
, Petersen, O. B., Jensen, U. B., Petersen, M. B. & Lildballe, D. L. (2016).
Fetal Kidney Anomalies: Next Generation Sequencing. Abstract from European Society of Human Genetics Conference 2016, Barcelona, Spain.
Schøler Nørgaard, M., Mogra, R., Pinner, J., Kagan, K. O.
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Fetal costello syndrome: A description of the phenotype of HRAS exon 1 mutations.
Ultrasound in Obstetrics & Gynecology,
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Singh, R.
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Fetal cells in maternal blood for prenatal diagnosis: A love story rekindled.
Biomarkers in Medicine,
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Sritharan, S. S., Gajewska, M. E.
, Skytte, A.-B. S., Madsen, L. B. & Bendstrup, E. (2018).
Familial idiopathic pulmonary fibrosis in a young female.
Respiratory medicine case reports,
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Lautrup, C. K., Mikkelsen, E. M., Lash, T. L., Katballe, N.
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Familial colorectal cancer risk may be lower than previously thought: A Danish cohort study.
Cancer epidemiology,
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Jensen, J. M.
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Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes? Familial Cancer,
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Buchanan, J., Hill, M., Vass, C. M., Hammond, J., Riedijk, S., Klapwijk, J. E., Harding, E.
, Lou, S., Vogel, I., Hui, L., Ingvoldstad-Malmgren, C., Soller, M. J., Ormond, K. E., Choolani, M., Zheng, Q., Chitty, L. S. & Lewis, C. (2022).
Factor's that impact on women's decision-making around prenatal genomic tests: An international discrete choice survey.
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Narvestad-Bøttger, H., Winther-Larsen, A., Haugbølle Bjerre, J., Dziegiel, M. H.
, Hansen, A. T. & Hasle, H. (2024).
Extreme Reticulocytosis After Splenectomy in a Patient With Hemoglobin Mizuho.
Journal of Pediatric Hematology/Oncology,
46(1), e111-e114.
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Jensen, T. G., Andresen, B. S., Bross, P., Jensen, U. B., Holme, E.
, Kølvraa, S., Gregersen, N. & Bolund, L. (1992).
Expression of wild-type and mutant medium-chain acyl-CoA dehydrogenase (MCAD) cDNA in eucaryotic cells.
BBA General Subjects,
1180(1), 65-72.
Westergaard, M., Henningsen, J.
, Johansen, C., Rasmussen, S.
, Svendsen, M. L., Jensen, U. B., Schrøder, H. D., Staels, B.
, Iversen, L., Bolund, L., Kragballe, K. & Kristiansen, K. (2003).
Expression and localization of peroxisome proliferator-activated receptors and nuclear factor kappaB in normal and lesional psoriatic skin.
Journal of Investigative Dermatology,
121(5), 1104-17.
https://doi.org/10.1046/j.1523-1747.2003.12536.x
Christensen, M. B., Wadt, K.
, Jensen, U. B., Lautrup, C. K., Bojesen, A., Krogh, L. N., van Overeem Hansen, T. & Gerdes, A. M. (2019).
Exploring the hereditary background of renal cancer in Denmark.
PLOS ONE,
14(4), Article e0215725.
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Lou, S., Frumer, M., Schlütter, M., Petersen, O. B., Vogel, I. & Nielsen, C. P. (2017).
Experiences and expectations in the first trimester of pregnancy: a qualitative study.
Health Expectations,
20(6), 1320-1329.
https://doi.org/10.1111/hex.12572,
https://doi.org/10.1111/hex.12572
Lou, S., Bollerup, S., Terkildsen, M. D., Adrian, S. W., Pacey, A., Pennings, G.
, Vogel, I. & Skytte, A.-B. (2023).
Experiences and attitudes of Danish men who were sperm donors more than 10 years ago; a qualitative interview study.
PLOS ONE,
18(2), Article e0281022.
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Nitschke, N. J., Jelsig, A. M.
, Lautrup, C., Lundsgaard, M., Severinsen, M. T., Cowland, J. B., Maroun, L. L.
, Andersen, M. K. & Grønbæk, K. (2024).
Expanding the understanding of telomere biology disorder with reports from two families harboring variants in ZCCHC8 and TERC.
Clinical Genetics. Advance online publication.
https://doi.org/10.1111/cge.14534
Severinsen, J. E., Bjarkam, C. R., Kiaer-Larsen, S.
, Olsen, I. M., Nielsen, M. M., Blechingberg, J., Nielsen, A. L., Holm, I. E., Foldager, L., Young, B. D., Muir, W. J., Blackwood, D. H. R.
, Corydon, T. J., Mors, O. & Børglum, A. D. (2006).
Evidence implicating BRD1 with brain development and susceptibility to both schizophrenia and bipolar affective disorder.
Molecular Psychiatry,
11(12), 1126-38.
https://doi.org/10.1038/sj.mp.4001885
Menon, R., Velez, D. R.
, Thorsen, P., Vogel, I., Jacobsson, B., Williams, S. M. & Fortunato, S. J. (2006).
Ethnic differences in key candidate genes for spontaneous preterm birth: TNF-alpha and its receptors.
Human Heredity,
62(2), 107-18.
https://doi.org/10.1159/000096301
Jønch, A. E., Douard, E., Moreau, C., Van Dijck, A., Passeggeri, M., Kooy, F., Puechberty, J., Campbell, C., Sanlaville, D., Lefroy, H., Richetin, S., Pain, A., Geneviève, D., Kini, U., Le Caignec, C., Lespinasse, J.
, Skytte, A. B., Isidor, B., Zweier, C. ... 15q11.2 Working Group (2019).
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: Recommendations for practice.
Journal of Medical Genetics,
56(10), 701-710.
https://doi.org/10.1136/jmedgenet-2018-105879
Jakobsen, J. E., Li, J., Moldt, B., Kragh, P. M., Callesen, H., Hertz, J. M., Bolund, L., Jørgensen, A. L., Mikkelsen, J. G. & Nielsen, A. L. (2011).
Establishment of a pig fibroblast-derived cell line for locus-directed transgene expression in cell cultures and blastocysts.
Molecular Biology Reports,
38(1), 151-61.
https://doi.org/10.1007/s11033-010-0089-z
Skals, M., Jensen, U. B., Ousingsawat, J., Kunzelmann, K.
, Leipziger, J. & Praetorius, H. A. (2010).
Escherichia coli α-hemolysin triggers shrinkage of erythrocytes via KCa3.1 and TMEM16A channels with subsequent phosphatidylserine exposure.
Journal of Biological Chemistry,
285(20), 15557-15565.
https://doi.org/10.1074/jbc.M109.082578
Klein, A., Lillis, S., Munteanu, I., Scoto, M., Zhou, H., Quinlivan, R., Straub, V., Manzur, A. Y., Roper, H., Jeannet, P. Y., Rakowicz, W., Jones, D. H.
, Jensen, U. B., Wraige, E., Trump, N., Schara, U., Lochmuller, H., Sarkozy, A., Kingston, H. ... Muntoni, F. (2012).
Erratum: Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies.
Human Mutation,
33(8).
https://doi.org/10.1002/humu.22136
Sorensen, C. B., Andresen, B. S., Jensen, U. B., Jensen, T. G., Jensen, P. K. A., Gregersen, N. & Bolund, L. (2004).
Erratum: Functional testing of keratin 14 mutant proteins associated with the three major types of epidermolysis bullosa simplex (Experimental Dermatology (2003) vol. 12 (472-479)).
Experimental Dermatology,
13(7).
Viuff, M., Skakkebæk, A., Nielsen, M. M., Chang, S. & Gravholt, C. H. (2019).
Epigenetics and genomics in Turner syndrome.
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics,
181(1), 125-132.
https://doi.org/10.1002/ajmg.c.31683
Nielsen, M. M., Trolle, C., Vang, S., Hornshøj, H., Skakkebaek, A., Hedegaard, J., Nordentoft, I., Pedersen, J. S. & Gravholt, C. H. (2020).
Epigenetic and transcriptomic consequences of excess X-chromosome material in 47,XXX syndrome-A comparison with Turner syndrome and 46,XX females.
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics,
184(2), 279-293.
https://doi.org/10.1002/ajmg.c.31799