Øyen, N., Poulsen, G., Boyd, H. A., Wohlfart, J.
, Jensen, P. K. A. & Melbye, M. (2009).
National time trends in congenital heart defects, Denmark.
American Heart Journal,
157, 467-473.
Oyen, N., Poulsen, G. M.
, Wohlfahrt, J., Boyd, H. A.
, Jensen, P. K. A. & Melbye, M. (2010).
Recurrence of discordant congenital heart defects in families.
Circulation: Cardiovascular Genetics,
3(2), 122-8.
https://doi.org/10.1161/CIRCGENETICS.109.890103
Ottesen, A. M., Aksglæde, L., Garn, I., Tartaglia, N., Tassone, F.
, Gravholt, C. H., Bojesen, A., Sørensen, K.
, Jørgensen, N., Rajpert-De Meyts, E., Gerdes, T., Lind, A.-M., Kjærgaard, S. & Juul, A. (2010).
Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy.
American Journal of Medical Genetics. Part A,
152A(5), 1206-12.
https://doi.org/10.1002/ajmg.a.33334
Østergaard, C. S., Ernst, A., Gaml-Sørensen, A., Brix, N., Toft, G., Haervig, K. K., Hougaard, K. S., Bonde, J. P., Tøttenborg, S. S.
& Ramlau-Hansen, C. H. (2022).
Use of paracetamol (acetaminophen) as a nonprescription analgesic and semen quality in young men: A cross-sectional study.
Andrology,
10(3), 495-504. Article 13129.
https://doi.org/10.1111/andr.13129
Orrico, A., Galli, L., Faivre, L., Clayton-Smith, J., Azzarello-Burri, S. M.
, Hertz, J. M., Jacquemont, S., Taurisano, R., Arroyo Carrera, I., Tarantino, E., Devriendt, K., Melis, D., Thelle, T., Meinhardt, U. & Sorrentino, V. (2010).
Aarskog-Scott syndrome: Clinical update and report of nine novel mutations of the FGD1 gene.
American Journal of Medical Genetics. Part A,
152A(2), 313-318.
https://doi.org/10.1002/ajmg.a.33199
Orntoft, T. F.
, Vestergaard, E. M., Holmes, E.
, Jakobsen, J. S., Grunnet, N., Mortensen, M., Johnson, P.
, Bross, P., Gregersen, N., Andresen, K. S.
, Jensen, U. B., Bolund, L. & Wolf, H. (1996).
Influence of Lewis alpha1-3/4-L-fucosyltransferase (FUT3) gene mutations on enzyme activity, erythrocyte phenotyping, and circulating tumor marker sialyl-Lewis a levels.
Journal of Biological Chemistry,
271(50), 32260-8.
Olesen, C., Agergaard, P. J., Boers, M. G. C.
, Farholt, S., Heilman, C. J., Hvidkjaer, L.
, Kristensen, K., Lauritsen, M. B., Lunding, J.
, Nielsen, B. W., Skovby, F.
, Thrane, N., Vogel, I. & Østergaard, J. R. (2010).
22q11-deletionssyndrom.
Ugeskrift for Laeger,
172(13), 1038-46.
O'Donnell-Luria, A. H., Pais, L. S., Faundes, V., Wood, J. C., Sveden, A., Luria, V., Abou Jamra, R., Accogli, A., Amburgey, K., Anderlid, B. M., Azzarello-Burri, S., Basinger, A. A., Bianchini, C., Bird, L. M., Buchert, R., Carre, W., Ceulemans, S., Charles, P., Cox, H. ... Rodan, L. H. (2019).
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
American Journal of Human Genetics,
104(6), 1210-1222.
https://doi.org/10.1016/j.ajhg.2019.03.021
Nørgaard, M., Haldrup, C., Storebjerg, T. M., Vestergaard, E. M., Wild, P. J.
, Høyer, S., Borre, M., Ørntoft, T. F. & Sørensen, K. D. (2017).
Comprehensive Evaluation of TFF3 Promoter Hypomethylation and Molecular Biomarker Potential for Prostate Cancer Diagnosis and Prognosis.
International Journal of Molecular Sciences (Online),
18(9).
https://doi.org/10.3390/ijms18092017
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
Nilbert, M.
, Wikman, F. P., Hansen, T. V. O.
, Krarup, H. B., Örntoft, T. F., Nielsen, F. C.
, Sunde, L., Gerdes, A.-M., Cruger, D., Timshel, S., Bisgaard, M.-L., Bernstein, I.
& Okkels, H. (2009).
Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population.
Familial Cancer,
8(1), 75-83.
https://doi.org/10.1007/s10689-008-9199-3
Niemann, I., Vejerslev, L. O., Frøding, L.
, Blaakær, J., Maroun, L. L.
, Hansen, E. S., Grove, A., Lund, H., Havsteen, H.
& Sunde, L. (2015).
Gestational trophoblastic diseases - clinical guidelines for diagnosis, treatment, follow-up, and counselling.
Danish Medical Journal,
62(11), Article C5082.
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
Nielsen, M. L., Lildballe, D. L., Rasmussen, M.
, Bojesen, A., Birn, H. & Sunde, L. (2021).
Clinical genetic diagnostics in Danish autosomal dominant polycystic kidney disease patients reveal possible founder variants.
European Journal of Medical Genetics,
64(4), Article 104183.
https://doi.org/10.1016/j.ejmg.2021.104183
Nielsen, T., Herlin, M. K., Linnet, K. M., Beniczky, S., Sommerlund, M., Granild-Jensen, J. B. & Gregersen, P. A. (2022).
Autosomal dominant sleep-related hypermotor epilepsy caused by a previously unreported CHRNA4 variant.
European Journal of Medical Genetics,
65(3), Article 104444.
https://doi.org/10.1016/j.ejmg.2022.104444
Nielsen, C., Nilsson, C., Assing, K.
, Herlin, M. K., Skakkebæk, A., Larsen, M., Rathe, M., Beck, H. C. & Vinholt, P. J. (2023).
Compromised PAR1 Activation-A Cause for Bleeding in XMEN? Thrombosis and Haemostasis,
123(6), 641-644.
https://doi.org/10.1055/a-2023-0113
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.
https://doi.org/10.1097/MPH.0000000000002790
Mulligan, A. M., Couch, F. J., Barrowdale, D., Domchek, S. M., Eccles, D., Nevanlinna, H., Ramus, S. J., Robson, M., Sherman, M., Spurdle, A. B., Wappenschmidt, B., Lee, A. R., McGuffog, L., Healey, S., Sinilnikova, O. M., Janavicius, R., Hansen, T. VO., Nielsen, F. C., Ejlertsen, B. L. ... Breast Cancer Family Registry (2011).
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.
Breast Cancer Research,
13(6), R110.
https://doi.org/10.1186/bcr3052
Moosa, S.
, Haagerup, A., Gregersen, P. A., Petersen, K. K., Altmüller, J., Thiele, H., Nürnberg, P., Cho, T.-J., Kim, O.-H., Nishimura, G., Wollnik, B.
& Vogel, I. (2017).
Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.
American Journal of Medical Genetics. Part A,
173(4), 1102-1108.
https://doi.org/10.1002/ajmg.a.38116
Moosa, S., Loeys, B., Altmüller, J., Mortier, G., Nürnberg, P., Li, Y., Wollnik, B.
& Vogel, I. (2017).
Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum.
Clinical Genetics,
92(3), 342-343.
https://doi.org/10.1111/cge.12990
Møller, R. S., Kübart, S., Hoeltzenbein, M., Heye, B.
, Vogel, I., Hansen, C. P., Menzel, C., Ullmann, R., Tommerup, N., Ropers, H.-H., Tümer, Z. & Kalscheuer, V. M. (2008).
Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.
American Journal of Human Genetics,
82(5), 1165-70.
https://doi.org/10.1016/j.ajhg.2008.03.001
Møller, P., Seppälä, T., Bernstein, I., Holinski-Feder, E., Sala, P., Evans, D. G., Lindblom, A., Macrae, F., Blanco, I., Sijmons, R., Jeffries, J., Vasen, H., Burn, J., Nakken, S., Hovig, E., Rødland, E. A., Tharmaratnam, K., de Vos Tot Nederveen Cappel, W. H., Hill, J. ... Mallorca Group (http://mallorca-group.org) (2016).
Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database. Gut,
66(9), 1657-1664.
https://doi.org/10.1136/gutjnl-2016-311403
Møller, L. B., Schönewolf-Greulich, B., Rosengren, T.
, Larsen, L. J., Ostergaard, J. R., Sommerlund, M., Ostenfeldt, C.
, Stausbøl-Grøn, B., Linnet, K. M., Gregersen, P. A. & Jensen, U. B. (2018).
Corrigendum to "Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex" [Mol. Genet. Metab. 120(4) (Apr 2017) 384-391].
Molecular Genetics and Metabolism,
125(4), 361-361.
https://doi.org/10.1016/j.ymgme.2017.11.007
Møller, P., Seppälä, T. T.
, Bernstein, I., Holinski-Feder, E., Sala, P., Gareth Evans, D., Lindblom, A., Macrae, F., Blanco, I., Sijmons, R. H., Jeffries, J., Vasen, H. F. A., Burn, J., Nakken, S., Hovig, E., Rødland, E. A., Tharmaratnam, K., de Vos Tot Nederveen Cappel, W. H., Hill, J. ... Mallorca Group (2018).
Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database.
Gut,
67(7), 1306-1316.
https://doi.org/10.1136/gutjnl-2017-314057
Møller, H. D., Lin, L., Xiang, X., Petersen, T. S., Huang, J., Yang, L.
, Kjeldsen, E., Jensen, U. B., Zhang, X., Liu, X., Xu, X., Wang, J., Yang, H., Church, G. M.
, Bolund, L., Regenberg, B.
& Luo, Y. (2018).
CRISPR-C: circularization of genes and chromosome by CRISPR in human cells.
Nucleic Acids Research,
46(22), e131. Article e131.
https://doi.org/10.1093/nar/gky767
Møller, N. B., Boonen, D. S., Feldner, E. S., Hao, Q., Larsen, M., Lænkholm, A. V., Borg, Å., Kvist, A., Törngren, T.
, Jensen, U. B., Boonen, S. E., Thomassen, M.
& Terkelsen, T. (2023).
Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes.
Scientific Reports,
13(1), Article 8536.
https://doi.org/10.1038/s41598-023-35755-8
Møller, P., Haupt, S., Ahadova, A., Kloor, M., Sampson, J. R.
, Sunde, L., Seppälä, T., Burn, J.
, Bernstein, I., Capella, G., Evans, D. G., Lindblom, A., Winship, I., Macrae, F., Katz, L., Laish, I., Vainer, E., Monahan, K., Half, E. ... Dominguez-Valentin, M. (2024).
Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated "Big Bang" pathway to CRC in three of the four Lynch syndromes.
Hereditary Cancer in Clinical Practice,
22(1), 6.
https://doi.org/10.1186/s13053-024-00279-3
Moghadasi, S., Meeks, H. D., Vreeswijk, P. M., Janssen, L. A. M., Borg, Å., Ehrencrona, H., Paulsson-Karlsson, Y., Wappenschmidt, B., Engel, C., Gehrig, A., Arnold, N., Van Overeem Hansen, T., Thomassen, M.
, Jensen, U. B., Kruse, T. A., Ejlertsen, B., Gerdes, A. M.
, Pedersen, I. S., Caputo, S. M. ... García, E. G. (2018).
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: Breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
Journal of Medical Genetics,
55(1), 15-20.
https://doi.org/10.1136/jmedgenet-2017-104560
Moellgaard, M. H., Lund, I. C. B., Becher, N., Skytte, A.-B., Andreasen, L., Srebniak, M. I.
& Vogel, I. (2022).
Incidental finding of maternal malignancy in an unusual non-invasive prenatal test and a review of similar cases.
Clinical Case Reports,
10(10), Article e6280.
https://doi.org/10.1002/ccr3.6280
Miraglia Del Giudice, E., Coppola, G., Bellini, G., Ledaal, P.
, Hertz, J. M. & Pascotto, A. (2003).
A novel mutation (R218Q) at the boundary between the N-terminal and the first transmembrane domain of the glycine receptor in a case of sporadic hyperekplexia.
Journal of Medical Genetics,
40(5), e71.
Milne, R. L., Kuchenbaecker, K. B., Michailidou, K., Beesley, J., Kar, S., Lindström, S., Hui, S., Lemaçon, A., Soucy, P., Dennis, J., Jiang, X., Rostamianfar, A., Finucane, H., Bolla, M. K., McGuffog, L., Wang, Q., Aalfs, C. M., Adams, M., Adlard, J. ... ABCTB Investigators (2017).
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.
Nature Genetics,
49(12), 1767-1778.
https://doi.org/10.1038/ng.3785
Menon, R.
, Thorsen, P., Vogel, I., Jacobsson, B., Morgan, N.
, Jiang, L., Li, C., Williams, S. M. & Fortunato, S. J. (2008).
Racial disparity in amniotic fluid concentrations of tumor necrosis factor (TNF)-alpha and soluble TNF receptors in spontaneous preterm birth.
American Journal of Obstetrics and Gynecology,
198(5), 533.e1-10.
https://doi.org/10.1016/j.ajog.2007.11.025
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
Menon, R., Velez, D. R., Simhan, H., Ryckman, K.
, Jiang, L., Thorsen, P., Vogel, I., Jacobsson, B., Merialdi, M., Williams, S. M. & Fortunato, S. J. (2006).
Multilocus interactions at maternal tumor necrosis factor-alpha, tumor necrosis factor receptors, interleukin-6 and interleukin-6 receptor genes predict spontaneous preterm labor in European-American women.
American Journal of Obstetrics and Gynecology,
194(6), 1616-24.
https://doi.org/10.1016/j.ajog.2006.03.059
Menon, R., Schelde, P., Urrabaz-Garza, R., Radnaa, E., Richardson, L., Ravn, K., Baasch Christensen, I., Hatt, L.
, Vogel, I., Uldbjerg, N. & Singh, R. (2019).
Detection of Circulating Amniochorion (Fetal Membrane) Cells in Maternal Blood Samples. Abstract from Society for reproductive Investigation, Paris, France.
Meldgaard, M., Brix, N., Gaml-Sørensen, A., Ernst, A., Ramlau-Hansen, C. H., Tøttenborg, S. S., Hougaard, K. S., Bonde, J. P. E.
& Toft, G. (2022).
Consumption of Sugar-Sweetened or Artificially Sweetened Beverages and Semen Quality in Young Men: A Cross-Sectional Study.
International Journal of Environmental Research and Public Health,
19(2), Article 682.
https://doi.org/10.3390/ijerph19020682
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
Markholt, S., Andreassen, L.
, Bjerre, J. V., Gregersen, P. A. & Andersen, B. N. (2023).
Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2.
European Journal of Medical Genetics,
66(2), Article 104695.
https://doi.org/10.1016/j.ejmg.2023.104695
Maimaitili, M., Chen, M., Febbraro, F., Ucuncu, E., Kelly, R., Niclis, J. C., Christiansen, J. R.
, Mermet-Joret, N., Niculescu, D., Lauritsen, J., Iannielli, A.
, Klæstrup, I. H., Jensen, U. B., Qvist, P., Nabavi, S., Broccoli, V.
, Nykjær, A., Romero-Ramos, M. & Denham, M. (2023).
Enhanced production of mesencephalic dopaminergic neurons from lineage-restricted human undifferentiated stem cells.
Nature Communications,
14(1), Article 7871.
https://doi.org/10.1038/s41467-023-43471-0
Maghnie, M., Semler, O., Guillen-Navarro, E., Selicorni, A., Heath, K. E., Haeusler, G., Hagenäs, L., Merker, A., Leiva-Gea, A., González, V. L., Raimann, A., Rehberg, M., Santos-Simarro, F., Ertl, D. A.
, Gregersen, P. A., Onesimo, R., Landfeldt, E., Jarrett, J., Quinn, J. ... Mohnike, K. (2023).
Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study.
Orphanet Journal of Rare Diseases,
18(1), Article 56.
https://doi.org/10.1186/s13023-023-02652-2
Madsen, J. F., Amoushahi, M., Choi, C. P.
, Bundgaard, S., Heuck, A. & Lykke-Hartmann, K. (2023).
Inhibition of phosphodiesterase PDE8B reduces activation of primordial follicles in mouse ovaries.
Molecular Reproduction and Development,
90(6), 378-388.
https://doi.org/10.1002/mrd.23699