Thomsen, A. H., Gaml-Sørensen, A., Brix, N., Tøttenborg, S. S., Hougaard, K. S.
, Ernst, A., Arendt, L. H., Toft, G., Bonde, J. P.
& Ramlau-Hansen, C. H. (2023).
Maternal alcohol intake in early pregnancy and biomarkers of fecundity in adult sons: a cohort study.
Reproductive Toxicology,
119, Article 108396.
https://doi.org/10.1016/j.reprotox.2023.108396
Gaml-Sørensen, A., Brix, N., Høyer, B. B., Tøttenborg, S. S., Hougaard, K. S., Bonde, J. P. E.
, Clemmensen, P. J., Ernst, A., Arendt, L. H., Olsen, S. F., Granström, C.
, Henriksen, T. B., Toft, G. & Ramlau-Hansen, C. H. (2023).
Maternal intake of folate and folic acid during pregnancy and markers of male fecundity: A population-based cohort study.
Andrology,
11(3), 537-550.
https://doi.org/10.1111/andr.13364
Gaml-Sørensen, A., Brix, N., Lunddorf, L. L. H., Ernst, A., Høyer, B. B., Olsen, S. F., Granström, C.
, Toft, G., Henriksen, T. B. & Ramlau-Hansen, C. H. (2023).
Maternal intake of folate and folic acid during pregnancy and pubertal timing in girls and boys: A population-based cohort study.
Paediatric and Perinatal Epidemiology,
37(7), 618-629.
https://doi.org/10.1111/ppe.12981
Gaml-Sørensen, A., Brix, N., Lunddorf, L. L. H., Ernst, A., Høyer, B. B.
, Toft, G., Henriksen, T. B. & Ramlau-Hansen, C. H. (2023).
Maternal Intake of Vitamin D Supplements during Pregnancy and Pubertal Timing in Children: A Population-Based Follow-Up Study.
Nutrients,
15(18), Article 4039.
https://doi.org/10.3390/nu15184039
Gaml-Sørensen, A., Brix, N., Hærvig, K. K., Lindh, C., Tøttenborg, S. S., Hougaard, K. S., Høyer, B. B.
, Ernst, A., Arendt, L. H., Clemmensen, P. J., Bonde, J. P. E.
, Henriksen, T. B., Toft, G., Arah, O. A. & Ramlau-Hansen, C. H. (2023).
Maternal vitamin D levels and male reproductive health: a population-based follow-up study.
European Journal of Epidemiology,
38(5), 469-484.
https://doi.org/10.1007/s10654-023-00987-5
Levitin, M. O., Rawlins, L. E., Sanchez-Andrade, G., Arshad, O. A., Collins, S. C., Sawiak, S. J., Iffland, P. H., Andersson, M. H. L., Bupp, C., Cambridge, E. L., Coomber, E. L., Ellis, I., Herkert, J. C., Ironfield, H., Jory, L., Kretz, P. F., Kant, S. G., Neaverson, A., Nibbeling, E. ... Gerety, S. S. (2023).
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.
Brain,
146(11), 4766-4783.
https://doi.org/10.1093/brain/awad231
Ridder, L., Berglund, A., Stochholm, K., Chang, S.
& Gravholt, C. H. (2023).
Morbidity, mortality, and socioeconomics in Klinefelter syndrome and 47,XYY syndrome: a comparative review.
Endocrine Connections,
12(5), Article e230024.
https://doi.org/10.1530/EC-23-0024
Lildballe, D. L., Frederiksen, A. L., Schönewolf-Greulich, B., Brasch-Andersen, C.
, Lautrup, C. K., Karstensen, H. G., Pedersen, I. S.
, Sunde, L., Risom, L., Rasmussen, M., Bertelsen, M., Andersen, M. K., Rendtorff, N. D.
, Gregersen, P. A., Tørring, P. M., Hammer-Hansen, S., Boonen, S. E., Lindquist, S. G., Hammer, T. B. & Diness, B. R. (2023).
National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark.
European Journal of Medical Genetics,
66(12), Article 104872.
https://doi.org/10.1016/j.ejmg.2023.104872
Gravholt, C. H., Ferlin, A., Gromoll, J., Juul, A., Raznahan, A., van Rijn, S., Rogol, A. D.
, Skakkebæk, A., Tartaglia, N. & Swaab, H. (2023).
New developments and future trajectories in supernumerary sex chromosome abnormalities: a summary of the 2022 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XYY.
Endocrine Connections,
12(3), Article e220500.
https://doi.org/10.1530/EC-22-0500
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
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., 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
Ernst, A., Brix, N., Gaml-Sørensen, A., Arendt, L. H., Toft, G., Tøttenborg, S. S., Hougaard, K. S., Bonde, J. P. E.
& Ramlau-Hansen, C. H. (2023).
Parental age at birth and biomarkers of fecundity in young Danish men.
Andrology, Article 13536. Advance online publication.
https://doi.org/10.1111/andr.13536
Chang, S.
, Larsen, O. H., Hvas, A.-M., Skakkebaek, A., Gravholt, C. H. & Münster, A.-M. B. (2023).
Platelet aggregation in Klinefelter syndrome is not aggravated by testosterone replacement therapy: A longitudinal follow-up study.
Andrology,
11(3), 456-463.
https://doi.org/10.1111/andr.13330
Clemmensen, P. J., Schullehner, J., Brix, N., Sigsgaard, T., Stayner, L. T.
, Kolstad, H. A. & Ramlau-Hansen, C. H. (2023).
Prenatal Exposure to Nitrate in Drinking Water and Adverse Health Outcomes in the Offspring: a Review of Current Epidemiological Research.
Current Environmental Health Reports,
10(3), 250-263.
https://doi.org/10.1007/s40572-023-00404-9
Clemmensen, P. J., Brix, N., Schullehner, J., Ernst, A., Harrits Lunddorf, L. L., Bjerregaard, A. A., Halldorsson, T. I., Olsen, S. F., Hansen, B., Stayner, L. T.
, Kolstad, H. A., Sigsgaard, T. & Ramlau-Hansen, C. H. (2023).
Prenatal exposure to nitrosatable drugs and timing of puberty in sons and daughters: A nationwide cohort study.
International Journal of Hygiene and Environmental Health,
254, Article 114271.
https://doi.org/10.1016/j.ijheh.2023.114271
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
Hald, J. D., Beck-Nielsen, S., Gregersen, P. A., Gjørup, H. & Langdahl, B. (2023).
Pycnodysostosis in children and adults.
Bone,
169, Article 116674.
https://doi.org/10.1016/j.bone.2023.116674
Alanay, Y., Mohnike, K., Nilsson, O., Alves, I., AlSayed, M., Appelman-Dijkstra, N. M., Baujat, G., Ben-Omran, T., Breyer, S., Cormier-Daire, V.
, Gregersen, P. A., Guillén-Navarro, E., Högler, W., Maghnie, M., Mukherjee, S., Cohen, S., Pimenta, J., Selicorni, A., Semler, J. O. ... Irving, M. (2023).
Real-world evidence in achondroplasia: considerations for a standardized data set.
Orphanet Journal of Rare Diseases,
18(1), Article 166.
https://doi.org/10.1186/s13023-023-02755-w
Gaml-Sørensen, A., Brix, N., Tøttenborg, S. S., Hougaard, K. S., Hærvig, K. K., Bonde, J. P. E.
, Henriksen, T. B., Toft, G. & Ramlau-Hansen, C. H. (2023).
Selection bias in a male-offspring cohort investigating fecundity: is there reason for concern? Human reproduction (Oxford, England),
38(2), 293-305.
https://doi.org/10.1093/humrep/deac241
Gaml-Sørensen, A., Frølich, M. K.
, Brix, N., Ernst, A., Bonde, J. P. E., Hougaard, K. S., Tøttenborg, S. S.
, Clemmensen, P. J., Toft, G. & Ramlau-Hansen, C. H. (2023).
Sleep duration and biomarkers of fecundity in young men: a cross-sectional study from a population-based cohort.
Andrology, Article 13560. Advance online publication.
https://doi.org/10.1111/andr.13560
Jelsig, A. M., van Overeem Hansen, T., Gede, L. B., Qvist, N.
, Christensen, L.-L., Lautrup, C. K., Frederiksen, J. H.
, Sunde, L., Ousager, L. B.
, Ljungmann, K., Bertelsen, B. & Karstensen, J. G. (2023).
Survival, surveillance, and genetics in patients with Peutz-Jeghers syndrome: A nationwide study.
Clinical Genetics,
104(1), 81-89.
https://doi.org/10.1111/cge.14337
Byrjalsen, A., Bygum, A.
, Lautrup, C. K., Frederiksen, A. L., Fialla, A. D., Raaschou-Jensen, K.
, Bendstrup, E., Masmas, T. N., Klarskov, M. & Jelsig, A. M. (2023).
Telomersygdomme.
Ugeskrift for Laeger,
185(1), 53-57.
Hiort, M., Rohayem, J., Knaf, R., Laurentino, S.
, Berglund, A., Gravholt, C. H., Gromoll, J. & Wistuba, J. (2023).
Testicular architecture of men with 46,XX testicular Disorders of Sex Development.
Sexual Development,
17(1), 32-42.
https://doi.org/10.1159/000528955
Gravholt, C. H., Viuff, M., Just, J., Sandahl, K., Brun, S., van der Velden, J.
, Andersen, N. H. & Skakkebaek, A. (2023).
The Changing Face of Turner Syndrome.
Endocrine Reviews,
44(1), 33-69.
https://doi.org/10.1210/endrev/bnac016
Gaml-Sørensen, A., Brix, N., Ernst, A., Lunddorf, L. L. H., Lindh, C.
, Toft, G., Henriksen, T. B., Arah, O. A. & Ramlau-Hansen, C. H. (2023).
The estimated effect of season and vitamin D in the first trimester on pubertal timing in girls and boys: a cohort study and an instrumental variable analysis.
International Journal of Epidemiology,
52(5), 1328–1340.
https://doi.org/10.1093/ije/dyad060
Tallaksen, H. B. L., Johannsen, E. B., Just, J., Viuff, M. H., Gravholt, C. H. & Skakkebæk, A. (2023).
The multi-omic landscape of sex chromosome abnormalities: current status and future directions.
Endocrine Connections,
12(9), Article e230011.
https://doi.org/10.1530/EC-23-0011
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
Brix, N., Gaml-Sorensen, A., Ernst, A., Arendt, L. H., Harrits Lunddorf, L. L., Toft, G., Tottenborg, S. S., Haervig, K. K., Hoyer, B. B., Hougaard, K. S., Bonde, J. P. E.
& Ramlau-Hansen, C. H. (2023).
Timing of puberty in relation to semen characteristics, testicular volume, and reproductive hormones: a cohort study.
Fertility and Sterility,
120(4), 823-833.
https://doi.org/10.1016/j.fertnstert.2023.05.164
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
Jelsig, A. M., van Overeem Hansen, T., Gede, L. B., Qvist, N.
, Christensen, L. L., Lautrup, C. K., Ljungmann, K., Christensen, L. T., Rønlund, K., Tørring, P. M., Bertelsen, B.
, Sunde, L. & Karstensen, J. G. (2023).
Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study.
Familial Cancer,
22(4), 429-436.
https://doi.org/10.1007/s10689-023-00338-z
Rosvig, L., Steffensen, E., Brogaard, L., Hvidman, L., Kierkegaard, O., Kjeldsen, A. C., Taastrøm, K.
, Uldbjerg, N. & Lou, S. (2023).
Women and partners' experience of major postpartum haemorrhage - A qualitative study.
B J O G,
130(9), 1087-1095.
https://doi.org/10.1111/1471-0528.17440
Viuff, M., Skakkebæk, A., Johannsen, E. B., Chang, S.
, Pedersen, S. B., Lauritsen, K. M.
, Pedersen, M. G. B., Trolle, C., Just, J. & Gravholt, C. H. (2023).
X chromosome dosage and the genetic impact across human tissues.
Genome Medicine,
15(1), Article 21.
https://doi.org/10.1186/s13073-023-01169-4
Hammond, J., Klapwijk, J. E., Riedijk, S.
, Lou, S., Ormond, K. E.
, Vogel, I., Hui, L., Sziepe, E.-J., Buchanan, J., Ingvoldstad-Malmgren, C., Soller, M. J., Harding, E., Hill, M. & Lewis, C. (2022).
Assessing women's preferences towards tests that may reveal uncertain results from prenatal genomic testing: Development of attributes for a discrete choice experiment, using a mixed-methods design.
PLOS ONE,
17(1), Article e0261898.
https://doi.org/10.1371/journal.pone.0261898
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
Barnes, D. R., Silvestri, V., Leslie, G., McGuffog, L., Dennis, J., Yang, X., Adlard, J., Agnarsson, B. A., Ahmed, M., Aittomäki, K., Andrulis, I. L., Arason, A., Arnold, N., Auber, B., Azzollini, J., Balmaña, J., Barkardottir, R. B., Barrowdale, D., Barwell, J. ... GEMO Study Collaborators (2022).
Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.
Journal of the National Cancer Institute,
114(1), 109-122. Article 147.
https://doi.org/10.1093/jnci/djab147
Huang, K.
, Gaml-Sørensen, A., Lunddorf, L. L. H., Ernst, A., Brix, N., Olsen, J. & Ramlau-Hansen, C. H. (2022).
Caesarean delivery and pubertal timing in boys and girls: A Danish population-based cohort study.
Paediatric and Perinatal Epidemiology,
36(1), 104-112. Article 12827.
https://doi.org/10.1111/ppe.12827
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. (2022).
Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures.
Clinical Genetics,
102(3), 191-200.
https://doi.org/10.1111/cge.14176
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
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. (2022).
Clinical implications of genetic testing in familial intermediate and late-onset colorectal cancer.
Human Genetics,
141(12), 1925-1933.
https://doi.org/10.1007/s00439-022-02470-9
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. ... ENIGMA Consortium (2022).
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Human Mutation,
43(12), 1921-1944.
https://doi.org/10.1002/humu.24449
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
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. ... Pedersen, I. S. (2022).
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
Communications Biology,
5, Article 1061.
https://doi.org/10.1038/s42003-022-03978-6
Ataei-Nazari, S.
, Amoushahi, M., Madsen, J. F.
, Jensen, J., Heuck, A., Mohammadi-Sangcheshmeh, A.
& Lykke-Hartmann, K. (2022).
Cyclin-dependent kinase 6 (CDK6) as a potent regulator of the ovarian primordial-to-primary follicle transition.
Frontiers in Cell and Developmental Biology,
10, Article 1036917.
https://doi.org/10.3389/fcell.2022.1036917
van der Sluijs, P. J., Joosten, M., Alby, C., Attié-Bitach, T., Gilmore, K., Dubourg, C., Fradin, M., Wang, T., Kurtz-Nelson, E. C., Ahlers, K. P., Arts, P., Barnett, C. P., Ashfaq, M., Baban, A., van den Born, M., Borrie, S., Busa, T., Byrne, A., Carriero, M. ... Santen, G. W. E. (2022).
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genetics in Medicine,
24(8), 1753-1760.
https://doi.org/10.1016/j.gim.2022.04.010
Jelsig, A. M., Qvist, N., Bertelsen, B.
, Christensen, L.-L., Grossjohan, H.
, Lautrup, C. K., Sunde, L., Tørring, P. M.
, Ljungman, K., Christensen, L. T. & Karstensen, J. G. (2022).
Distinct gastric phenotype in patients with pathogenic variants in SMAD4: A nationwide cross-sectional study.
Endoscopy International Open,
10(12), E1537-E1543.
https://doi.org/10.1055/a-1954-0522
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
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.
Prenatal Diagnosis,
42(7), 934-946.
https://doi.org/10.1002/pd.6159
Jensen, J. M.
, Skakkebæk, A., Gaustadness, M.
, Sommerlund, M., Gjørup, H., Ljungmann, K., Lautrup, C. K. & Sunde, L. (2022).
Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes? Familial Cancer,
21(3), 325-332.
https://doi.org/10.1007/s10689-021-00280-y