Lautrup, C. K., Mikkelsen, E. M., Lash, T. L., Katballe, N.
& Sunde, L. (2015).
Survival in familial colorectal cancer: a Danish cohort study.
Familial Cancer,
14(4), 553-9.
https://doi.org/10.1007/s10689-015-9812-1
Lautrup, C. K., Mikkelsen, E. M., Lash, T. L., Katballe, N.
& Sunde, L. (2015).
Familial colorectal cancer risk may be lower than previously thought: A Danish cohort study.
Cancer epidemiology,
39(5), 714-19.
https://doi.org/10.1016/j.canep.2015.07.004
Lautrup, C. K., Teik, K. W., Unzaki, A., Mizumoto, S., Syx, D., Sin, H. H., Nielsen, I. K.
, Markholt, S., Yamada, S., Malfait, F., Matsumoto, N., Miyake, N. & Kosho, T. (2020).
Delineation of musculocontractural Ehlers–Danlos Syndrome caused by dermatan sulfate epimerase deficiency.
Molecular Genetics and Genomic Medicine,
8(5), Article e1197.
https://doi.org/10.1002/mgg3.1197
Laursen, R. J., Alsbjerg, B., Vogel, I., Gravholt, C. H., Elbaek, H., Lildballe, D. L., Humaidan, P. & Vestergaard, E. M. (2018).
Case of successful IVF treatment of an oligospermic male with 46,XX/46,XY chimerism.
Journal of Assisted Reproduction and Genetics,
35(7), 1325-1328.
https://doi.org/10.1007/s10815-018-1194-5
Lauritsen, K. F.
, Lildballe, D. L., Coucke, P. J., Monrad, R.
, Larsen, D. A. & Gregersen, P. A. (2017).
A mild form of Stickler syndrome type II caused by mosaicism of COL11A1.
European Journal of Medical Genetics,
60(5), 275-278.
https://doi.org/10.1016/j.ejmg.2017.03.005
Lauridsen, M. H., Petersen, O. B., Vestergaard, E. M., Uldbjerg, N., Henriksen, T. B., Østergaard, J. R., Matthiesen, N. B. & Hjortdal, V. E. (2014).
1st and 2nd Trimester Headsize in Fetuses with Congenital Heart Disease: A Cohort Study.
Larsen, J., Pettersson, O. J., Jakobsen, M., Thomsen, R., Pedersen, C. B., Hertz, J. M., Gregersen, N., Corydon, T. J. & Jensen, T. G. (2011).
Myoblasts generated by lentiviral mediated MyoD transduction of myotonic dystrophy type 1 (DM1) fibroblasts can be used for assays of therapeutic molecules.
BMC Research Notes,
4, 490.
https://doi.org/10.1186/1756-0500-4-490
Langhoff-Roos, J.
, Kesmodel, U., Jacobsson, B., Rasmussen, S.
& Vogel, I. (2006).
Spontaneous preterm delivery in primiparous women at low risk in Denmark: population based study.
B M J,
332(7547), 937-9.
https://doi.org/10.1136/bmj.38751.524132.2F
Langergaard, M. J., Ernst, A., Brix, N., Lunddorf, L. L. H. & Ramlau-Hansen, C. H. (2023).
Prenatal Exposure to Parental Lifestyle Factors, Diseases, and Use of Medications and Male Pubertal Development: a Review of Epidemiological Studies Published 2017-2022.
Current Epidemiology Reports,
10(1), 61-83.
https://doi.org/10.1007/s40471-023-00320-4
Lalloo, F., Kulkarni, A., Chau, C., Nielsen, M., Sheaff, M., Steele, J., van Doorn, R., Wadt, K., Hamill, M., Torr, B., Tischkowitz, M., Hanson, H. & Delphi respondents (2023).
Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome.
European Journal of Human Genetics,
31(11), 1261-1269.
https://doi.org/10.1038/s41431-023-01448-z
Lakeman, I. M. M., van den Broek, A. J., Vos, J. A. M., Barnes, D. R., Adlard, J., Andrulis, I. L., Arason, A., Arnold, N., Arun, B. K., Balmaña, J., Barrowdale, D., Benitez, J., Borg, A., Caldés, T., Caligo, M. A., Chung, W. K., Claes, K. B. M., Barouk-Simonet, E., Belotti, M. ... KConFab Investigators (2021).
The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant.
Genetics in Medicine,
23(9), 1726-1737.
https://doi.org/10.1038/s41436-021-01198-7
Kruckow, S., Schelde, P.
, Hatt, L., Ravn, K.
, Petersen, O. B., Uldbjerg, N., Vogel, I. & Singh, R. (2018).
Does Maternal Body Mass Index Affect the Quantity of Circulating Fetal Cells Available to Use for Cell-Based Noninvasive Prenatal Test in High-Risk Pregnancies? Fetal Diagnosis and Therapy,
45(5), 1-4.
https://doi.org/10.1159/000492028
Kristiansen, M. K., Niemann, I., Lindegaard, J. C., Christiansen, M., Jørgensen, M. W., Vogel, I., Lildballe, D. L. & Sunde, L. (2016).
Cell-free DNA in pregnancy with choriocarcinoma and coexistent live fetus: A case report.
Medicine (Baltimore),
95(37), e4721. Article e4721.
https://doi.org/10.1097/MD.0000000000004721
Kristensen, S. E., Gadsbøll, K., Nicolaides, K. H.
, Vogel, I., Pedersen, L. H., Wright, A., Petersen, O. B. & Wright, D. (2023).
Atypicality index: avoiding false reassurance in prenatal screening.
Ultrasound in Obstetrics & Gynecology,
61(3), 333-338.
https://doi.org/10.1002/uog.26135
Krag, K. S., Bojesen, A., Jensen, A. S., Juul, S. & Gravholt, C. H. (2012).
Criminality in men with Klinefelter's syndrome and XYY syndrome: a cohort study.
BMJ Open,
2(1), e000650.
https://doi.org/10.1136/bmjopen-2011-000650
Kølvraa, S., Singh, R., Normand, E. A., Qdaisat, S., Van denVeyver, I. B., Jackson, L.
, Hatt, L., Schelde, P.
, Uldbjerg, N., Vestergaard, E. M., Zhao, L., Chen, R., Shaw, C. A., Breman, A. M. & Beaudet, A. L. (2016).
Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women.
Prenatal Diagnosis,
36(12), 1127–1134.
https://doi.org/10.1002/pd.4948
Koido, K., Malmgren, C. I., Pojskic, L., Almos, P. Z., Bergen, S. E., Borg, I., Božina, N., Coviello, D. A., Degenhardt, F., Ganoci, L.
, Jensen, U. B., Durand-Lennad, L., Laurent-Levinson, C., McQuillin, A., Navickas, A., Pace, N. P., Paneque, M., Rietschel, M., Grigoroiu-Serbanescu, M. ... Tammimies, K. (2023).
Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe – A multi-professional survey study.
European Journal of Medical Genetics,
66(8), Article 104805.
https://doi.org/10.1016/j.ejmg.2023.104805
Koch, J., Kølvraa, S., Hobolt, N., Petersen, G. B., Willard, H. F., Waye, J. S.
, Gregersen, N. & Bolund, L. (1990).
A case of 46,XX,r(X) (p1q1) diagnosed by in situ hybridization.
Clinical Genetics,
37(3), 216-220.
https://doi.org/10.1111/j.1399-0004.1990.tb03505.x
Knorr, S., Skakkebæk, A., Just, J., Johannsen, E. B., Trolle, C., Vang, S., Lohse, Z., Bytoft, B.
, Damm, P., Højlund, K., Jensen, D. M. & Gravholt, C. H. (2022).
Epigenetic and transcriptomic alterations in offspring born to women with type 1 diabetes (the EPICOM study).
BMC Medicine,
20(1), Article 338.
https://doi.org/10.1186/s12916-022-02514-x
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).
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.
Human Mutation,
33(6), 981-8.
https://doi.org/10.1002/humu.22056
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
Klapwijk, J. E., Srebniak, M. I., Go, A. T. J. I., Govaerts, L. C. P., Lewis, C., Hammond, J., Hill, M.
, Lou, S., Vogel, I., Ormond, K. E., Diderich, K. E. M., Brüggenwirth, H. T. & Riedijk, S. R. (2021).
How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies.
Clinical Genetics,
100(6), 647-658.
https://doi.org/10.1111/cge.14010
Klapwijk, J. E., Polak, M. G., Diderich, K. E. M., Srebniak, M. I., Bruggenwirth, H. T.
, Lou, S., Vogel, I., van der Schoot, V., Bakkeren, I. M., Dijkstra, K. & Riedijk, S. (2022).
Reporting uncertain prenatal exome sequencing results: how do medical students handle uncertainty? European Journal of Human Genetics,
30(Supplement 1), 563. Article P22.013.D.
Kamperis, K., Siggaard, C.
, Herlin, T., Nathan, E., Hertz, J. M. & Rittig, S. (2000).
A novel splicing mutation in the V2 vasopressin receptor.
Pediatric Nephrology,
15(1-2), 43-9.
Jul Clemmensen, P., Brix, N., Schullehner, J., Lunddorf, L. L. H., Ernst, A., Ebdrup, N. H., Bjerregaard, A. A., Hansen, B., Thomas Stayner, L., Ingi Halldorsson, T., Frodi Olsen, S.
, Sigsgaard, T., Kolstad, H. A. & Ramlau-Hansen, C. H. (2022).
Prenatal nitrate exposure from diet and drinking water and timing of puberty in sons and daughters: A nationwide cohort study.
Environment International,
170, Article 107659.
https://doi.org/10.1016/j.envint.2022.107659
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.
Joshi, S., Andersen, R. F., Jespersen, B., Rasmussen, M., Madsen, L. B., Hansen, A., Nagaraj, S.
, Kjeldsen, M., Olsen, R. K. J., Gregersen, N. & Rittig, S. (2015).
Genetic Variants in NPHS1, NPHS2 and INF2 in Patients with Primary Focal Segmental Glomerulosclerosis in Denmark.. Poster session presented at 10th International Podocyte Conference, Freiburg, Germany.
Jørgensen, I. N.
, Skakkebaek, A., Andersen, N. H., Pedersen, L. N., Hougaard, D. M.
, Bojesen, A., Trolle, C. & Gravholt, C. H. (2015).
Short QTc Interval in Males with Klinefelter Syndrome-Influence of CAG Repeat Length, Body Composition, and Testosterone Replacement Therapy.
Pacing and Clinical Electrophysiology,
38(4), 472-82.
https://doi.org/10.1111/pace.12580
Joo, J. E., Mahmood, K., Walker, R., Georgeson, P., Candiloro, I., Clendenning, M., Como, J., Joseland, S., Preston, S.
, Graversen, L., Wilding, M., Field, M., Lemon, M., Wakeling, J., Marfan, H., Susman, R., Isbister, J., Edwards, E., Bowman, M. ... Buchanan, D. D. (2023).
Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling of colorectal cancers.
Clinical Epigenetics,
15(1), Article 95.
https://doi.org/10.1186/s13148-023-01511-y
Jönsson, Å. L. M., Hernando, N., Knöpfel, T.
, Mogensen, S., Bendstrup, E., Hilberg, O., Christensen, J. H., Simonsen, U. & Wagner, C. A. (2022).
Impaired phosphate transport in SLC34A2 variants in patients with pulmonary alveolar microlithiasis.
Human Genomics,
16(1), Article 13.
https://doi.org/10.1186/s40246-022-00387-y
Jönsson, Å. L. M., Hilberg, O.
, Simonsen, U., Christensen, J. H. & Bendstrup, E. (2023).
New insights in the genetic variant spectrum of SLC34A2 in pulmonary alveolar microlithiasis; a systematic review.
Orphanet Journal of Rare Diseases,
18, Article 130.
https://doi.org/10.1186/s13023-023-02712-7
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
Johansen, C., Funding, A. T., Otkjaer, K., Kragballe, K., Jensen, U. B., Madsen, M., Binderup, L., Skak-Nielsen, T., Fjording, M. S.
& Iversen, L. (2006).
Protein expression of TNF-alpha in psoriatic skin is regulated at a posttranscriptional level by MAPK-activated protein kinase 2.
Journal of Immunology,
176(3), 1431-8.
Johannsen, E. M. B., Just, J., Viuff, M. H., Okholm, T. L. H., Pedersen, S. B., Meyer Lauritsen, K., Trolle, C., Pedersen, M. G. B., Chang, S., Fedder, J.
, Skakkebæk, A. & Gravholt, C. H. (2022).
Sex chromosome aneuploidies give rise to changes in the circular RNA profile: A circular transcriptome-wide study of Turner and Klinefelter syndrome across different tissues.
Frontiers in Genetics,
13, Article 928874.
https://doi.org/10.3389/fgene.2022.928874
Johannsen, E. B., Skakkebæk, A., Kalucka, J. M., Fedder, J.
, Gravholt, C. H. & Just, J. (2023).
The testicular microvasculature in Klinefelter syndrome is immature with compromised integrity and characterized by excessive inflammatory cross-talk.
Human reproduction (Oxford, England),
38(12), 2339–2349.
https://doi.org/10.1093/humrep/dead224
Jeppesen, L. D., Hatt, L., Singh, R., Ravn, K., Kølvraa, M., Schelde, P.
, Uldbjerg, N., Vogel, I. & Lildballe, D. L. (2021).
Cell-based non-invasive prenatal diagnosis in a pregnancy at risk of cystic fibrosis.
Prenatal Diagnosis,
41(2), 234-240.
https://doi.org/10.1002/pd.5861
Jeppesen, L. D., Hatt, L., Singh, R., Schelde, P.
, Andreasen, L., Markholt, S., Lildballe, D. L. & Vogel, I. (2021).
Screening for Fetal Aneuploidy and Sex Chromosomal Anomalies in a Pregnant Woman With Mosaicism for Turner Syndrome—Applications and Advantages of Cell-Based NIPT.
Frontiers in Genetics,
12, Article 741752.
https://doi.org/10.3389/fgene.2021.741752
Jeppesen, L. D., Hjortshøj, T. D., Hindkjær, J.
, Hatt, L., Petersen, O. B., Singh, R., Schelde, P.
, Andreasen, L., Christensen, R., Lildballe, D. L. & Vogel, I. (2022).
Cell-Based NIPT Detects 47,XXY Genotype in a Twin Pregnancy.
Frontiers in Genetics,
13, Article 842092.
https://doi.org/10.3389/fgene.2022.842092
Jeppesen, L. D., Lildballe, D. L., Hatt, L., Hedegaard, J., Singh, R., Toft, C. L. F., Schelde, P.
, Pedersen, A. S., Knudsen, M. & Vogel, I. (2023).
Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts: Detection of the 50 most common disease-causing variants.
Prenatal Diagnosis,
43(1), 3-13.
https://doi.org/10.1002/pd.6276
Jeppesen, L. D., Hatt, L., Singh, R., Schelde, P., Ravn, K., Toft, C. L., Laursen, M. B., Hedegaard, J., Christensen, I. B., Nicolaisen, B. H.
, Andreasen, L., Pedersen, L. H., Vogel, I. & Lildballe, D. L. (2023).
Clinical interpretation of cell-based non-invasive prenatal testing for monogenic disorders including repeat expansion disorders: potentials and pitfalls.
Frontiers in Genetics,
14, Article 1188472.
https://doi.org/10.3389/fgene.2023.1188472
Jeppesen, L. D., Lildballe, D. L., Hatt, L., Hedegaard, J., Singh, R., Toft, C. L. F., Schelde, P.
, Pedersen, A. S., Knudsen, M. & Vogel, I. (2023).
Noninvasive Prenatal Screening for Cystic Fibrosis Using Circulating Trophoblasts: Detection of the 50 Most Common Disease-Causing Variants.
Obstetrical and Gynecological Survey,
78(7), 393-395.
https://doi.org/10.1097/01.ogx.0000947140.57660.b6