1. 2021
  2. Published

    “I had to think: This is not a child” : A qualitative exploration of how women/couples articulate their relation to the fetus/child following termination of a wanted pregnancy due to Down syndrome. / Lou, Stina ; Hvidtjørn, Dorte; Jørgensen, Mathilde Lindh; Vogel, Ida.

    In: Sexual & Reproductive HealthCare, Vol. 28, 100606, 06.2021.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  3. Published

    Clinical features and disease severity in patients with mosaic neurofibromatosis type 1 : a single-center study and literature review. / Ejerskov, C.; Raundahl, M.; Gregersen, P. A.; Handrup, M. M.

    In: Orphanet Journal of Rare Diseases, Vol. 16, 180, 04.2021.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperReviewResearchpeer-review

  4. Published

    Urinary Bisphenol A, F and S Levels and Semen Quality in Young Adult Danish Men. / Benson, Thea Emily; Gaml-Sørensen, Anne; Ernst, Andreas; Brix, Nis; Hougaard, Karin Sørig; Hærvig, Katia Keglberg; Ellekilde Bonde, Jens Peter; Tøttenborg, Sandra Søgaard; Lindh, Christian H; Ramlau-Hansen, Cecilia Høst; Toft, Gunnar.

    In: International Journal of Environmental Research and Public Health, Vol. 18, No. 4, 1742, 11.02.2021.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  5. Published

    A search for undiagnosed charcot-marie-tooth disease among patients registered with unspecified polyneuropathy in the danish national patient registry. / Vaeth, Signe; Andersen, Henning; Christensen, Rikke; Jensen, Uffe Birk.

    In: Clinical epidemiology, Vol. 13, 02.2021, p. 113-120.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  6. Published

    Clinical and genetic evaluation of Danish patients with pycnodysostosis. / Doherty, Mia Aa; Langdahl, Bente L; Vogel Denmark, Ida; Haagerup, Annette.

    In: European Journal of Medical Genetics, Vol. 64, No. 2, 104135, 02.2021, p. 104135.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  7. Published

    Vaginal, cervical and uterine pH in women with normal and abnormal vaginal microbiota. / Lykke, Malene Risager; Becher, Naja Helene; Haahr, Thor; Boedtkjer, Ebbe; Jensen, Jørgen Skov; Uldbjerg, Niels.

    In: Pathogens, Vol. 10, No. 2, E90, 20.01.2021.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  8. Published

    Cancer occurrence in Turner syndrome and the effect of sex hormone substitution therapy. / Viuff, Mette Hansen; Stochholm, Kirstine; Lin, Angela; Berglund, Agnethe; Juul, Svend; Gravholt, Claus Højbjerg.

    In: European Journal of Endocrinology, Vol. 184, No. 1, 01.2021, p. 79-88.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  9. Published

    Cell-based non-invasive prenatal diagnosis in a pregnancy at risk of cystic fibrosis. / Jeppesen, Line Dahl; Hatt, Lotte; Singh, Ripudaman; Ravn, Katarina; Kølvraa, Mathias; Schelde, Palle; Uldbjerg, Niels; Vogel, Ida; Lildballe, Dorte L.

    In: Prenatal Diagnosis, Vol. 41, No. 2, 01.2021, p. 234-240.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  10. Published

    Increased prenatal detection of 22q11.2 deletion and 22q11.2 duplication after introduction of nationwide prenatal screening for trisomy 21, trisomy 13, and trisomy 18. / Steffensen, Ellen Hollands; Hyett, Jonathan; Petersen, Olav Bjørn; Vogel, Ida; Danish Cytogenetic Central Registry Study Group.

    In: Prenatal Diagnosis, Vol. 41, No. 2, 01.2021.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  11. Published

    Retinoblastoma management during the COVID-19 pandemic : A report by the Global Retinoblastoma Study Group including 194 centers from 94 countries. / Fabian, I D; Stacey, Andrew W.; Bowman, Richard; Khetan, Vikas; Blum, Sharon; Keren-Froim, Naama; Staffieri, Sandra ; Foster, Allan; The Global Retinoblastoma Study Group.

    In: Pediatric Blood & Cancer, Vol. 68, No. 1, e28584, 01.2021.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperComment/debateResearchpeer-review

  12. Published

    Congenital heart disease in Down syndrome – A review of temporal changes. / Santoro, Stephanie L.; Steffensen, Ellen Hollands.

    In: Journal of Congenital Cardiology, Vol. 5, No. 1, 1, 2021.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  13. 2020
  14. Published

    Cell-based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations. / Hatt, Lotte; Singh, Ripudaman; Christensen, Rikke; Ravn, Katarina; Christensen, Inga B.; Jeppesen, Line Dahl; Nicolaisen, Bolette Hestbek; Kolvraa, Mathias; Schelde, Palle; Andreassen, Lotte; Farlie, Richard; Uldbjerg, Niels; Vogel, Ida.

    In: Clinical Case Reports, Vol. 8, No. 12, 12.2020, p. 2561-2567.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  15. Published

    Follow-up guideline for patients with mosaic neurofibromatosis type 1. / Handrup, Mette Møller; Raundal, M; Gregersen, Pernille A; Ejerskov, Cecilie.

    2020.

    Research output: Contribution to conferencePosterResearchpeer-review

  16. Published

    How do geneticists and prospective parents interpret and negotiate an uncertain prenatal genetic result? an analysis of clinical interactions. / Lou, Stina ; Petersen, Olav Bjørn; Lomborg, Kirsten; Vogel, Ida.

    In: Journal of Genetic Counseling, Vol. 29, No. 6, 12.2020, p. 1221–1233.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  17. Published

    Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes. / Byrjalsen, Anna; Hansen, Thomas V O; Stoltze, Ulrik K; Mehrjouy, Mana M; Barnkob, Nanna Moeller; Hjalgrim, Lisa L; Mathiasen, René; Lautrup, Charlotte K; Gregersen, Pernille A; Hasle, Henrik; Wehner, Peder S; Tuckuviene, Ruta; Sackett, Peter Wad; Laspiur, Adrian O; Rossing, Maria; Marvig, Rasmus L; Tommerup, Niels; Olsen, Tina Elisabeth; Scheie, David; Gupta, Ramneek; Gerdes, Anne-Marie; Schmiegelow, Kjeld; Wadt, Karin.

    In: PLOS Genetics, Vol. 16, No. 12, e1009231, 12.2020.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  18. Published

    The Number of Circulating Fetal Extravillous Trophoblasts Varies from Gestational Week 6 to 20. / Ravn, Katarina; Singh, Ripudaman; Hatt, Lotte; Kølvraa, Mathias; Schelde, Palle; Vogel, Ida; Uldbjerg, Niels; Hindkaer, Johnny.

    In: Reproductive Sciences, Vol. 27, No. 12, 12.2020, p. 2170-2174.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  19. Published

    The role of stem cell antigen-1/Lymphocyte antigen 6A-2/6E-1 knock out in murine epidermis. / Christensen, Rikke; Gunnarsson, Anders Patrik; Jensen, Uffe Birk.

    In: Stem Cell Research, Vol. 49, 102047, 12.2020.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  20. Published

    The α2 Na+/K+-ATPase isoform mediates LPS-induced neuroinflammation. / Leite, J. A.; Isaksen, T. J.; Heuck, A.; Scavone, C.; Lykke-Hartmann, K.

    In: Scientific Reports, Vol. 10, No. 1, 14180, 12.2020.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  21. Published

    First trimester biomarkers for prediction of gestational diabetes mellitus. / Tenenbaum-Gavish, Kinneret; Sharabi-Nov, Adi; Binyamin, Dana; Møller, Holger Jon; Danon, David; Rothman, Lihi; Hadar, Eran; Idelson, Ana; Vogel, Ida; Koren, Omry; Nicolaides, Kypros H.; Gronbaek, Henning; Meiri, Hamutal.

    In: Placenta, Vol. 101, 11.2020, p. 80-89.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  22. Published

    Incidence and Mortality of Second Primary Cancers in Danish Patients With Retinoblastoma, 1943-2013. / Gregersen, Pernille A.; Olsen, Maja H.; Urbak, Steen F.; Funding, Mikkel; Dalton, Susanne O.; Overgaard, Jens; Alsner, Jan.

    In: JAMA network open, Vol. 3, No. 10, e2022126, 10.2020.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  23. Published

    P57 in Hydatidiform Moles : Evaluation of Antibodies and Expression in Various Cell Types. / Lund, Helle; Nielsen, Søren; Grove, Anni; Vyberg, Mogens; Sunde, Lone.

    In: Applied Immunohistochemistry and Molecular Morphology, Vol. 28, No. 9, 10.2020, p. 694-701.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  24. Published

    New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients. / Djursby, Malene; Madsen, Majbritt B.; Frederiksen, Jane H.; Berchtold, Lukas A.; Therkildsen, Christina; Willemoe, Gro L.; Hasselby, Jane P.; Wikman, Friedrik; Okkels, Henrik; Skytte, Anne Bine; Nilbert, Mef; Wadt, Karin; Gerdes, Anne Marie; van Overeem Hansen, Thomas.

    In: Frontiers in Genetics, Vol. 11, 566266, 09.2020.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  25. Published

    Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update. / Herlin, Morten Krogh; Petersen, Michael Bjørn; Brännström, Mats.

    In: Orphanet Journal of Rare Diseases, Vol. 15, 214, 20.08.2020.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  26. Published

    Characterization of the Cancer Spectrum in Men with Germline BRCA1 and BRCA2 Pathogenic Variants : Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). / Silvestri, Valentina; Leslie, Goska; Barnes, Daniel R.; The CIMBA Group.

    In: JAMA Oncology, Vol. 6, No. 8, 08.2020, p. 1218-1230.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  27. Published

    Distinct expression patterns of TLR transcripts in human oocytes and granulosa cells from primordial and primary follicles. / Ernst, E; Amoushahi, M; Sørensen, Anne Sofie; Kragstrup, T W; Ernst, E.; Lykke-Hartmann, Karin.

    In: Journal of Reproductive Immunology, Vol. 140, 103125, 08.2020.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  28. Published

    Transcriptome-wide association study of breast cancer risk by estrogen-receptor status. / Feng, Helian; Gusev, Alexander; Pasaniuc, Bogdan; Wu, Lang; Long, Jirong; Abu-full, Zomoroda; Aittomäki, Kristiina; Andrulis, Irene L.; Anton-Culver, Hoda; Antoniou, Antonis C.; Arason, Adalgeir; Arndt, Volker; Aronson, Kristan J.; Arun, Banu K.; Asseryanis, Ella; Auer, Paul L.; Azzollini, Jacopo; Balmaña, Judith; Barkardottir, Rosa B.; Barnes, Daniel R.; Barrowdale, Daniel; Beckmann, Matthias W.; Behrens, Sabine; Benitez, Javier; Bermisheva, Marina; Białkowska, Katarzyna; Blanco, Ana; Blomqvist, Carl; Boeckx, Bram; Bogdanova, Natalia V.; Bojesen, Stig E.; Bolla, Manjeet K.; Bonanni, Bernardo; Borg, Ake; Brauch, Hiltrud; Brenner, Hermann; Briceno, Ignacio; Broeks, Annegien; Brüning, Thomas; Burwinkel, Barbara; Cai, Qiuyin; Caldés, Trinidad; Caligo, Maria A.; Campbell, Ian; Canisius, Sander; GEMO Study Collaborators; EMBRACE Collaborators; GC-HBOC study Collaborators; ABCTB Investigators; HEBON Investigators; BCFR Investigators; OCGN Investigators; Skytte, Anne Bine.

    In: Genetic Epidemiology, Vol. 44, No. 5, 01.07.2020, p. 442-468.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  29. Published

    A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley–Kendall dysplasia are allelic disorders. / Gregersen, Pernille A.; McKay, Victoria; Walsh, Maie; Brown, Erica; McGillivray, George; Savarirayan, Ravi.

    In: Molecular Genetics and Genomic Medicine, Vol. 8, No. 6, e1173, 06.2020.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  30. Published

    Current use of noninvasive prenatal testing in Europe, Australia and the USA : A graphical presentation. / Gadsbøll, Kasper; Petersen, Olav B.; Gatinois, Vincent; Strange, Heather; Jacobsson, Bo; Wapner, Ronald; Vermeesch, Joris R.; The NIPT-map Study Group.

    In: Acta Obstetricia et Gynecologica Scandinavica, Vol. 99, No. 6, 06.2020, p. 722-730.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  31. Published

    Do fetal extravillous trophoblasts circulate in maternal blood postpartum? / Van De Looij, Anne; Singh, Ripudaman; Hatt, Lotte; Ravn, Katarina; Jeppesen, Line Dahl; Nicolaisen, Bolette Hestbek; Kølvraa, Mathias; Vogel, Ida; Schelde, Palle; Uldbjerg, Niels.

    In: Acta Obstetricia et Gynecologica Scandinavica, Vol. 99, No. 6, 06.2020, p. 751-756.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  32. Published

    Epigenetic and transcriptomic consequences of excess X-chromosome material in 47,XXX syndrome-A comparison with Turner syndrome and 46,XX females. / Nielsen, Morten Muhlig; Trolle, Christian; Vang, Søren; Hornshøj, Henrik; Skakkebaek, Anne; Hedegaard, Jakob; Nordentoft, Iver; Pedersen, Jakob Skou; Gravholt, Claus Højbjerg.

    In: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, Vol. 184, No. 2, 06.2020, p. 279-293.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  33. Published

    Epigenetics and genomics in Klinefelter syndrome. / Skakkebaek, Anne; Viuff, Mette; Nielsen, Morten M; Gravholt, Claus H.

    In: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, Vol. 184, No. 2, 06.2020, p. 216-225.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperReviewResearchpeer-review

  34. Published

    Morbidity in Klinefelter syndrome and the effect of testosterone treatment. / Chang, Simon; Skakkebaek, Anne; Davis, Shanlee M; Gravholt, Claus H.

    In: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, Vol. 184, No. 2, 06.2020, p. 344-355.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperReviewResearchpeer-review

  35. Published

    Nuchal translucency of 3.0-3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review. / Petersen, Olav B.; Smith, Eric; Van Opstal, Diane; Polak, Marike; Knapen, Maarten F.C.M.; Diderich, Karin E.M.; Bilardo, Caterina M.; Arends, Lidia R.; Vogel, Ida; Srebniak, Malgorzata I.

    In: Acta Obstetricia et Gynecologica Scandinavica, Vol. 99, No. 6, 06.2020, p. 765-774.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  36. Published

    Personalized medicine for the embryo and the fetus – Options in modern genetics influence preconception and prenatal choices. / Ingerslev, Hans Jakob; Kesmodel, Ulrik Schiøler; Jacobsson, Bo; Vogel, Ida.

    In: Acta Obstetricia et Gynecologica Scandinavica, Vol. 99, No. 6, 06.2020, p. 689-691.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperComment/debateResearchpeer-review

  37. Published

    Psychological functioning, brain morphology, and functional neuroimaging in Klinefelter syndrome. / Skakkebaek, Anne; Gravholt, Claus H; Chang, Simon; Moore, Philip J; Wallentin, Mikkel.

    In: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, Vol. 184, No. 2, 06.2020, p. 506-517.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  38. Published

    The epidemiology of sex chromosome abnormalities. / Berglund, Agnethe; Stochholm, Kirstine; Gravholt, Claus Højbjerg.

    In: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, Vol. 184, No. 2, 06.2020, p. 202-215.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperReviewResearchpeer-review

  39. Published

    Generation of an induced pluripotent stem cell line (DANi-011A) from a Parkinson's disease patient with a LRRK2 p.G2019S mutation. / Chen, Muwan; Maimaitili, Muyesier; Buchholdt, Susanne Hvolbøl; Jensen, Uffe Birk; Febbraro, Fabia; Denham, Mark.

    In: Stem Cell Research, Vol. 45, 101781, 05.2020.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  40. Published

    Global Retinoblastoma Presentation and Analysis by National Income Level. / Global Retinoblastoma Study Group.

    In: JAMA Oncology, Vol. 6, No. 5, 05.2020, p. 685-695.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  41. Published

    Placental mosaicism in the era of chromosomal microarrays. / Vogel, Ida; Vestergaard, Else Marie; Lildballe, Dorte Launtoft; Christensen, Rikke; Hoseth, Gerd Eva; Petersen, Astrid Christine; Bogaard, Pauline; Sørensen, Anne Nødgaard.

    In: European Journal of Medical Genetics, Vol. 63, No. 4, 103778, 04.2020.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  42. Published

    Sex hormone replacement therapy in Turner Syndrome - impact on morbidity and mortality. / Viuff, Mette H; Berglund, Agnethe; Juul, Svend; Andersen, Niels H; Stochholm, Kirstine; Gravholt, Claus H.

    In: The Journal of clinical endocrinology and metabolism, Vol. 105, No. 2, dgz039, 01.02.2020.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  43. Published

    Association of genomic domains in BRCA1 and BRCA2 with prostate cancer risk and aggressiveness. / Patel, Vivek L; Busch, Evan L; Friebel, Tara M; Cronin, Angel; Leslie, Goska; McGuffog, Lesley; Adlard, Julian; Agata, Simona; Agnarsson, Bjarni A; Ahmed, Munaza; Aittomäki, Kristiina; Alducci, Elisa; Andrulis, Irene L; Arason, Adalgeir; Arnold, Norbert; Artioli, Grazia; Arver, Brita; Auber, Bernd; Azzollini, Jacopo; Balmaña, Judith; Barkardottir, Rosa B; Barnes, Daniel R; Barroso, Alicia; Barrowdale, Daniel; Belotti, Muriel; Benitez, Javier; Bertelsen, Brigitte; Blok, Marinus J; Bodrogi, Istvan; Bonadona, Valérie; Bonanni, Bernardo; Bondavalli, Davide; Boonen, Susanne E; Borde, Julika; Borg, Ake; Bradbury, Angela R; Brady, Angela; Brewer, Carole; Brunet, Joan; Buecher, Bruno; Buys, Saundra S; Cabezas-Camarero, Santiago; Caldés, Trinidad; Caliebe, Almuth; Caligo, Maria A; Calvello, Mariarosaria; Campbell, Ian G; Carnevali, Ileana; Carrasco, Estela; Chan, Tsun L; Chu, Annie T W; Chung, Wendy K; Claes, Kathleen B M; Collaborators, Gemo Study; Collaborators, Embrace; Cook, Jackie; Cortesi, Laura; Couch, Fergus J; Daly, Mary B; Damante, Giuseppe; Darder, Esther; Davidson, Rosemarie; de la Hoya, Miguel; Della Puppa, Lara; Dennis, Joe; Díez, Orland; Ding, Yuan Chun; Ditsch, Nina; Domchek, Susan M; Donaldson, Alan; Dworniczak, Bernd; Easton, Douglas F; Eccles, Diana M; Eeles, Rosalind A; Ehrencrona, Hans; Ejlertsen, Bent; Engel, Christoph; Evans, D Gareth; Faivre, Laurence; Faust, Ulrike; Feliubadaló, Lídia; Foretova, Lenka; Fostira, Florentia; Fountzilas, George; Frost, Debra; García-Barberán, Vanesa; Garre, Pilar; Gauthier-Villars, Marion; Géczi, Lajos; Gehrig, Andrea; Gerdes, Anne-Marie; Gesta, Paul; Giannini, Giuseppe; Glendon, Gord; Godwin, Andrew K; Goldgar, David E; Greene, Mark H; Gutierrez-Barrera, Angelica M; Hahnen, Eric; Hamann, Ute; Hauke, Jan; Herold, Natalie; Hogervorst, Frans B L; Honisch, Ellen; Hopper, John L; Hulick, Peter J; Investigators, kConFab; Investigators, Hebon; Izatt, Louise; Jager, Agnes; James, Paul; Janavicius, Ramunas; Jensen, Uffe Birk; Jensen, Thomas Dyrso; Johannsson, Oskar Th; John, Esther M; Joseph, Vijai; Kang, Eunyoung; Kast, Karin; Kiiski, Johanna I; Kim, Sung-Won; Kim, Zisun; Ko, Kwang-Pil; Konstantopoulou, Irene; Kramer, Gero; Krogh, Lotte; Kruse, Torben A; Kwong, Ava; Larsen, Mirjam; Lasset, Christine; Lautrup, Charlotte; Lázaro, Conxi; Lee, Jihyoun; Lee, Jong Won; Lee, Min Hyuk; Lemke, Johannes; Lesueur, Fabienne; Liljegren, Annelie; Lindblom, Annika; Llovet, Patricia; Lopez-Fernández, Adria; Lopez-Perolio, Irene; Lorca, Victor; Loud, Jennifer T; Ma, Edmond S K; Mai, Phuong L; Manoukian, Siranoush; Mari, Veronique; Martin, Lynn; Matricardi, Laura; Mebirouk, Noura; Medici, Veronica; Meijers-Heijboer, Hanne E J; Meindl, Alfons; Mensenkamp, Arjen R; Miller, Clare; Molina Gomes, Denise; Montagna, Marco; Mooij, Thea M; Moserle, Lidia; Mouret-Fourme, Emmanuelle; Mulligan, Anna Marie; Nathanson, Katherine L; Navratilova, Marie; Nevanlinna, Heli; Niederacher, Dieter; Cilius Nielsen, Finn C; Nikitina-Zake, Liene; Offit, Kenneth; Olah, Edith; Olopade, Olufunmilayo I; Ong, Kai-Ren; Osorio, Ana; Ott, Claus-Eric; Palli, Domenico; Park, Sue K; Parsons, Michael T; Pedersen, Inge Sokilde; Peissel, Bernard; Peixoto, Ana; Pérez-Segura, Pedro; Peterlongo, Paolo; Høgh Petersen, Annabeth; Porteous, Mary E; Pujana, Miguel Angel; Radice, Paolo; Ramser, Juliane; Rantala, Johanna; Rashid, Muhammad U; Rhiem, Kerstin; Rizzolo, Piera; Robson, Mark E; Rookus, Matti A; Rossing, Caroline Maria; Ruddy, Kathryn J; Santos, Catarina; Saule, Claire; Scarpitta, Rosa; Schmutzler, Rita K; Schuster, Hélène; Senter, Leigha; Seynaeve, Caroline M; Shah, Payal D; Sharma, Priyanka; Shin, Vivian Y; Silvestri, Valentina; Simard, Jacques; Singer, Christian F; Skytte, Anne-Bine; Snape, Katie; Solano, Angela R; Soucy, Penny; Southey, Melissa C; Spurdle, Amanda B; Steele, Linda; Steinemann, Doris; Stoppa-Lyonnet, Dominique; Stradella, Agostina; Sunde, Lone; Sutter, Christian; Tan, Yen Y; Teixeira, Manuel R; Teo, Soo Hwang; Thomassen, Mads; Tibiletti, Maria Grazia; Tischkowitz, Marc; Tognazzo, Silvia; Toland, Amanda E; Tommasi, Stefania; Torres, Diana; Toss, Angela; Trainer, Alison H; Tung, Nadine; van Asperen, Christi J; van der Baan, Frederieke H; van der Kolk, Lizet E; van der Luijt, Rob B; van Hest, Liselotte P; Varesco, Liliana; Varon-Mateeva, Raymonda; Viel, Alessandra; Vierstraete, Jeroen; Villa, Roberta; von Wachenfeldt, Anna; Wagner, Philipp; Wang-Gohrke, Shan; Wappenschmidt, Barbara; Weitzel, Jeffrey N; Wieme, Greet; Yadav, Siddhartha; Yannoukakos, Drakoulis; Yoon, Sook-Yee; Zanzottera, Cristina; Zorn, Kristin K; D'Amico, Anthony V; Freedman, Matthew L; Pomerantz, Mark M; Chenevix-Trench, Georgia; Antoniou, Antonis C; Neuhausen, Susan L; Ottini, Laura; Nielsen, Henriette Roed; Rebbeck, Timothy R.

    In: Cancer Research, Vol. 80, No. 3, 02.2020, p. 624-638.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  44. Published

    Fetal costello syndrome : A description of the phenotype of HRAS exon 1 mutations. / Schøler Nørgaard, Maria; Mogra, Ritu; Pinner, Jason; Kagan, Karl Oliver; Warming Jørgensen, Mette; Gjørup, Vibike; Petersen, Olav Bjørn; Sandager, Puk; Vogel, Ida.

    In: Ultrasound in Obstetrics & Gynecology, Vol. 55, No. 2, 02.2020, p. 274-275.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperComment/debateResearchpeer-review

  45. Published

    Phenotypic presentations of Hajdu-Cheney syndrome according to age – 5 distinct clinical presentations. / Graversen, Lise; Handrup, Mette Møller; Irving, Melita; Hove, Hanne; Diness, Birgitte Rode; Risom, Lotte; Svaneby, Dea; Aagaard, Mads Malik; Vogel, Ida; Gjørup, Hans; Davidsen, Michael; Hellfritzsch, Michel Bach; Lauridsen, Eva; Gregersen, Pernille Axél.

    In: European Journal of Medical Genetics, Vol. 63, No. 2, 103650, 02.2020.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  46. Published

    Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants : findings from the Prospective Lynch Syndrome Database. / Dominguez-Valentin, Mev; Sampson, Julian R; Seppälä, Toni T; Ten Broeke, Sanne W; Plazzer, John-Paul; Nakken, Sigve; Engel, Christoph; Aretz, Stefan; Jenkins, Mark A; Sunde, Lone; Bernstein, Inge; Capella, Gabriel; Balaguer, Francesc; Thomas, Huw; Evans, D Gareth; Burn, John; Greenblatt, Marc; Hovig, Eivind; de Vos Tot Nederveen Cappel, Wouter H; Sijmons, Rolf H; Bertario, Lucio; Tibiletti, Maria Grazia; Cavestro, Giulia Martina; Lindblom, Annika; Della Valle, Adriana; Lopez-Köstner, Francisco; Gluck, Nathan; Katz, Lior H; Heinimann, Karl; Vaccaro, Carlos A; Büttner, Reinhard; Görgens, Heike; Holinski-Feder, Elke; Morak, Monika; Holzapfel, Stefanie; Hüneburg, Robert; Knebel Doeberitz, Magnus von; Loeffler, Markus; Rahner, Nils; Schackert, Hans K; Steinke-Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Pylvänäinen, Kirsi; Renkonen-Sinisalo, Laura; Hopper, John L; Win, Aung Ko; Haile, Robert W; Lindor, Noralane M; Gallinger, Steven; Le Marchand, Loïc; Newcomb, Polly A; Figueiredo, Jane C; Thibodeau, Stephen N; Wadt, Karin; Therkildsen, Christina; Okkels, Henrik; Ketabi, Zohreh; Moreira, Leticia; Sánchez, Ariadna; Serra-Burriel, Miquel; Pineda, Marta; Navarro, Matilde; Blanco, Ignacio; Green, Kate; Lalloo, Fiona; Crosbie, Emma J; Hill, James; Denton, Oliver G; Frayling, Ian M; Rødland, Einar Andreas; Vasen, Hans; Mints, Miriam; Neffa, Florencia; Esperon, Patricia; Alvarez, Karin; Kariv, Revital; Rosner, Guy; Pinero, Tamara Alejandra; Gonzalez, María Laura; Kalfayan, Pablo; Tjandra, Douglas; Winship, Ingrid M; Macrae, Finlay; Möslein, Gabriela; Mecklin, Jukka-Pekka; Nielsen, Maartje; Møller, Pål.

    In: Genetics in Medicine, Vol. 22, No. 1, 01.2020, p. 15-25.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  47. Published

    Klinefelter syndrome and testosterone treatment : a national cohort study on thrombosis risk. / Chang, Simon; Christiansen, Christian Fynbo; Bojesen, Anders; Juul, Svend; Münster, Anna-Marie Bloch; Gravholt, Claus H.

    In: Endocrine Connections, Vol. 9, No. 1, 01.2020, p. 34-43.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  48. Published

    Prevalence of mosaicism in uncultured chorionic villus samples after chromosomal microarray and clinical outcome in pregnancies affected by confined placental mosaicism. / Lund, Ida C.B.; Becher, Naja; Christensen, Rikke; Petersen, Olav B.; Steffensen, Ellen H.; Vestergaard, Else M.; Vogel, Ida.

    In: Prenatal Diagnosis, Vol. 40, No. 2, 01.2020, p. 244-259.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  49. Published

    "It's probably nothing, but…" Couples' experiences of pregnancy following an uncertain prenatal genetic result. / Lou, Stina; Lomborg, Kirsten; Lewis, Celine; Riedijk, Sam; Petersen, Olav Bjørn; Vogel, Ida.

    In: Acta Obstetrica et Gynecologica Scandinavica, Vol. 99, No. 6, 2020, p. 791-801.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  50. Published

    Deleterious mis-splicing of STK11 caused by a novel single-nucleotide substitution in the 3' polypyrimidine tract of intron five. / Terkelsen, Thorkild; Larsen, Ole H; Vang, Søren; Jensen, Uffe B; Wikman, Friedrik.

    In: Molecular Genetics & Genomic Medicine, Vol. 8, No. 9, e1381, 2020.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  51. Published

    Delineation of musculocontractural Ehlers–Danlos Syndrome caused by dermatan sulfate epimerase deficiency. / Lautrup, Charlotte K.; Teik, Keng W.; Unzaki, Ai; Mizumoto, Shuji; Syx, Delfien; Sin, Heng H.; Nielsen, Irene K.; Markholt, Sara; Yamada, Shuhei; Malfait, Fransiska; Matsumoto, Naomichi; Miyake, Noriko; Kosho, Tomoki.

    In: Molecular Genetics and Genomic Medicine, Vol. 8, No. 5, e1197, 2020.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  52. Published

    Generation of eight human induced pluripotent stem cell lines from Parkinson's disease patients carrying familial mutations. / Chen, Muwan; Muyesier, Maimaitili; Buchholdt, Susanne Hvolbøl; Jensen, Uffe Birk; Febbraro, Fabia; Denham, Mark.

    In: Stem Cell Research, Vol. 42, 101657, 2020.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  53. Published

    Impact of genetic counseling on the uptake of contralateral prophylactic mastectomy among younger women with breast cancer. / Terkelsen, Thorkild; Rønning, Hanne; Skytte, Anne-Bine.

    In: Acta Oncologica, Vol. 59, No. 1, 2020, p. 60-65.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  54. Published

    Implementation of exome sequencing in fetal diagnostics : data and experiences from a tertiary center in Denmark. / Becher, Naja Helene; Andreasen, Lotte; Sandager, Puk; Lou, Stina ; Petersen, Olav Bjørn; Christensen, Rikke; Vogel, Ida.

    In: Acta Obstetricia et Gynecologica Scandinavica, Vol. 99, 2020, p. 783-790.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  55. Published

    Morbidity in 47,XYY syndrome: a nationwide epidemiological study of hospital diagnoses and medication use. / Berglund, Agnethe; Stochholm, Kirstine; Gravholt, Claus Højbjerg.

    In: Genetics in Medicine, Vol. 22, No. 9, 2020, p. 1542-1551.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  56. Published

    New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults : A case report. / Wei, Chun Shan; Becher, Naja; Friis, Jenny Blechingberg; Ott, Peter; Vogel, Ida; Grønbæk, Henning.

    In: World Journal of Gastroenterology, Vol. 26, No. 5, 2020, p. 550-561.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  57. Published

    VP30.02: 22q11 microdeletions and duplications: how are they detected prenatally? / Gadsbøll, K.; Vogel, I.; Pedersen, L.H.; Petersen, O.B.

    In: Ultrasound in Obstetrics & Gynecology, Vol. 56, No. S1, 2020, p. 185.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperConference abstract in journalResearchpeer-review

  58. Published

    “This is the child we were given” : A qualitative study of Danish parents’ experiences of a prenatal Down syndrome diagnosis and their decision to continue the pregnancy. / Lou, Stina; Lanther, Maja Retpen; Hagenstjerne, Natascha; Bjørn Petersen, Olav; Vogel, Ida.

    In: Sexual and Reproductive Healthcare, Vol. 23, 100480, 2020.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  59. 2019
  60. Published

    An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome. / Suerink, Manon; Rodríguez-Girondo, Mar; van der Klift, Heleen M; Colas, Chrystelle; Brugieres, Laurence; Lavoine, Noémie; Jongmans, Marjolijn; Munar, Gabriel Capellá; Evans, D Gareth; Farrell, Michael P; Genuardi, Maurizio; Goldberg, Yael; Gomez-Garcia, Encarna; Heinimann, Karl; Hoell, Jessica I; Aretz, Stefan; Jasperson, Kory W; Kedar, Inbal; Modi, Mitul B; Nikolaev, Sergey; van Os, Theo A M; Ripperger, Tim; Rueda, Daniel; Senter, Leigha; Sjursen, Wenche; Sunde, Lone; Therkildsen, Christina; Tibiletti, Maria G; Trainer, Alison H; Vos, Yvonne J; Wagner, Anja; Winship, Ingrid; Wimmer, Katharina; Zimmermann, Stefanie Y; Vasen, Hans F; van Asperen, Christi J; Houwing-Duistermaat, Jeanine J; Ten Broeke, Sanne W; Nielsen, Maartje.

    In: Genetics in Medicine, Vol. 21, No. 12, 12.2019, p. 2706-2712.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  61. Published

    Reduced hepatic metallothionein expression in first trimester fetuses in response to intrauterine smoking exposure – a consequence of low maternal zinc levels? / Bilde, Katrine; Olesen, Rasmus H.; Ernst, EH; Mamsen, Linn S; Amoushahi, Mahboobeh; Lykke-Hartmann, Karin; Ernst, Erik; Larsen, Agnete.

    In: Human Reproduction, Vol. 34, No. 11, 12.11.2019, p. 2129-2143.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  62. Published

    Population frequencies of pathogenic alleles of BRCA1 and BRCA2 : analysis of 173 Danish breast cancer pedigrees using the BOADICEA model. / Terkelsen, Thorkild; Christensen, Lise-Lotte; Fenton, Deirdre Cronin; Jensen, Uffe Birk; Sunde, Lone; Thomassen, Mads; Skytte, Anne-Bine.

    In: Familial Cancer, Vol. 18, No. 4, 10.10.2019, p. 381-388.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  63. Published

    Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms : Recommendations for practice. / Jønch, Aia Elise; Douard, Elise; Moreau, Clara; Van Dijck, Anke; Passeggeri, Marzia; Kooy, Frank; Puechberty, Jacques; Campbell, Carolyn; Sanlaville, Damien; Lefroy, Henrietta; Richetin, Sonia; Pain, Aurelie; Geneviève, David; Kini, Usha; Le Caignec, Cédric; Lespinasse, James; Skytte, Anne Bine; Isidor, Bertrand; Zweier, Christiane; Caberg, Jean Hubert; Delrue, Marie Ange; Møller, Rikke Steensbjerre; Bojesen, Anders; Hjalgrim, Helle; Brasch-Andersen, Charlotte; Lemyre, Emmanuelle; Ousager, Lilian Bomme; Jacquemont, Sébastien; 15q11.2 Working Group.

    In: Journal of Medical Genetics, Vol. 56, No. 10, 10.2019, p. 701-710.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  64. Published

    Testosterone treatment and association with thrombin generation and coagulation inhibition in Klinefelter syndrome: A cross-sectional study. / Chang, Simon; Biltoft, Daniel; Skakkebæk, Anne; Fedder, Jens; Bojesen, Anders; Bor, M Vakur; Gravholt, Claus H; Münster, Anna-Marie B.

    In: Thrombosis Research, Vol. 182, 10.2019, p. 175-181.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  65. Published

    A placebo-controlled randomized study with testosterone in Klinefelter syndrome : beneficial effects on body composition. / Høst, Christian; Bojesen, Anders; Erlandsen, Mogens; Groth, Kristian; Kritstensen, Kurt; Jurik, Anne Grethe; Birkebæk, Niels; Gravholt, Claus.

    In: Endocrine Connections, Vol. 8, No. 9, 09.2019, p. 1250-1261.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  66. Published

    Dealing with uncertainty in prenatal genomics: Qualitative insights from around the globe. / Lewis, Celine; Hammond, Jennifer; Klapwijk, Jasmijn E.; Harding, Eleanor; Hill, Melissa; Lou, Stina ; Vogel, Ida; Szepe, Emma Jane; Hui, Lisa ; Christenson, Brita; Ormond, Kelly E.; Fisher, Jane; Chitty, Lyn S; Riedijk, Sam.

    2019. Abstract from 23rd International Conference on Prenatal Diagnosis and Theraphy, .

    Research output: Contribution to conferenceConference abstract for conferenceResearchpeer-review

  67. Published

    Implications of identifying a PLS3 deletion as an incidental finding on prenatal testing. / Moosa, Shahida; Gregersen, Pernille A; Hald, Jannie Dahl; Vogel, Ida.

    2019. Poster session presented at The 14th biannual International Skeletal Dysplasia Society Meeting , Oslo, .

    Research output: Contribution to conferencePosterResearchpeer-review

  68. Published

    Second-trimester fetal head circumference in more than 350 000 pregnancies : Outcome and suggestion for sex-dependent cutoffs for small heads. / Lund, Najaaraq; Sandager, Puk; Leonhard, Anne Katrine; Vogel, Ida; Petersen, Olav Bjørn.

    In: Prenatal Diagnosis, Vol. 39, No. 10, 09.2019, p. 910-920.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  69. Published

    The pivotal roles of the NOD-like receptors with a PYD domain, NLRPs, in oocytes and early embryo development. / Amoushahi, Mahboobeh; Sunde, Lone; Lykke-Hartmann, Karin.

    In: Biology of Reproduction, Vol. 101, No. 2, 08.2019, p. 284-296.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperReviewResearchpeer-review

  70. Published

    P59-T The utility of Sural NCS in differentiation of AIDP, CIDP and CMT1A. / Sørensen, Daniel Mosgaard; Fuglsang-Frederiksen, Anders; Væth, Signe; Markvardsen, Lars Kjøbsted; Harbo, Thomas; Andersen, Henning; Tankisi, Hatice.

    In: Clinical Neurophysiology, Vol. 130, No. 7, 07.2019, p. e56.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperConference abstract in journalResearchpeer-review

  71. Published

    Receiving a prenatal diagnosis of Down syndrome by phone : a qualitative study of the experiences of pregnant couples. / Lou, Stina; Carstensen, Kathrine; Vogel, Ida; Hvidman, Lone; Nielsen, Camilla Palmhøj; Lanther, Maja; Petersen, Olav Bjørn.

    In: BMJ Open, Vol. 9, No. 3, e026825, 06.2019.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  72. Published

    Type II Collagen Disorders Overview. / Gregersen, Pernille A; Savarirayan R., Ravi.

    GeneReviews®. University of Washington, 2019.

    Research output: Contribution to book/anthology/report/proceedingEncyclopedia entryResearchpeer-review

  73. Published

    Exploring the hereditary background of renal cancer in Denmark. / Christensen, Maria Bejerholm; Wadt, Karin; Jensen, Uffe Birk; Lautrup, Charlotte Kvist; Bojesen, Anders; Krogh, Lotte Nylandsted; van Overeem Hansen, Thomas; Gerdes, Anne Marie.

    In: PLOS ONE, Vol. 14, No. 4, e0215725, 04.2019.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  74. Published

    Detection of Circulating Amniochorion (Fetal Membrane) Cells in Maternal Blood Samples. / Menon, Ramkumar; Schelde, Palle; Urrabaz-Garza, Rheanna; Radnaa, Enkhtuya; Richardson, Lauren; Ravn, Katarina; Baasch Christensen, Inga; Hatt, Lotte; Vogel, Ida; Uldbjerg, Niels; Singh, Ripudaman.

    2019. Abstract from Society for reproductive Investigation, Paris, France.

    Research output: Contribution to conferenceConference abstract for conferenceResearchpeer-review

  75. Published

    Epigenetics and genomics in Turner syndrome. / Viuff, Mette; Skakkebæk, Anne; Nielsen, Morten M.; Chang, Simon; Gravholt, Claus H.

    In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, Vol. 181, No. 1, 03.2019, p. 125-132.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperReviewResearchpeer-review

  76. Published

    Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report. / Seppala, Toni T.; Ahadova, Aysel; Dominguez-Valentin, Mev; Macrae, Finlay; Evans, D. Gareth; Therkildsen, Christina; Sampson, Julian; Scott, Rodney; Burn, John; Moeslein, Gabriela; Bernstein, Inge; Holinski-Feder, Elke; Pylvanainen, Kirsi; Renkonen-Sinisalo, Laura; Lepisto, Anna; Lautrup, Charlotte Kvist; Lindblom, Annika; Plazzer, John-Paul; Winship, Ingrid; Tjandra, Douglas; Katz, Lior H.; Aretz, Stefan; Hueneburg, Robert; Holzapfel, Stefanie; Heinimann, Karl; Della Valle, Adriana; Neffa, Florencia; Gluck, Nathan; Cappel, Wouter H. de Vos Tot Nederveen; Vasen, Hans; Morak, Monika; Steinke-Lange, Verena; Engel, Christoph; Rahner, Nils; Schmiegel, Wolff; Vangala, Deepak; Thomas, Huw; Green, Kate; Lalloo, Fiona; Crosbie, Emma J.; Hill, James; Capella, Gabriel; Pineda, Marta; Navarro, Matilde; Blanco, Ignacio; ten Broeke, Sanne; Nielsen, Maartje; Ljungmann, Ken; Nakken, Sigve; Lindor, Noralane; Frayling, Ian M; Hovig, Eivind; Sunde, Lone; Kloor, Matthias; Mecklin, Jukka-Pekka; Kalager, Mette; Møller, Pål.

    In: Hereditary cancer in clinical practice, Vol. 17, 8, 28.02.2019.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  77. Published

    Is MED13L-related intellectual disability a recognizable syndrome? / Tørring, Pernille Mathiesen; Larsen, Martin Jakob; Brasch-Andersen, Charlotte; Krogh, Lotte Nylandsted; Kibæk, Maria; Laulund, Lone; Illum, Niels; Dunkhase-Heinl, Ulrike; Wiesener, Antje; Popp, Bernt; Marangi, Giuseppe; Hjortshøj, Tina Duelund; Ek, Jakob; Vogel, Ida; Becher, Naja; Roos, Laura; Zollino, Marcella; Fagerberg, Christina Ringmann.

    In: European Journal of Medical Genetics, Vol. 62, No. 2, 02.2019, p. 129-136.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  78. Published

    Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. / O'Donnell-Luria, Anne H.; Pais, Lynn S.; Faundes, Víctor; Wood, Jordan C.; Sveden, Abigail; Luria, Victor; Abou Jamra, Rami; Accogli, Andrea; Amburgey, Kimberly; Anderlid, Britt Marie; Azzarello-Burri, Silvia; Basinger, Alice A.; Bianchini, Claudia; Bird, Lynne M.; Buchert, Rebecca; Carre, Wilfrid; Ceulemans, Sophia; Charles, Perrine; Cox, Helen; Culliton, Lisa; Currò, Aurora; Deciphering Developmental Disorders (DDD) Study; Demurger, Florence; Dowling, James J.; Duban-Bedu, Benedicte; Dubourg, Christele; Eiset, Saga Elise; Escobar, Luis F.; Ferrarini, Alessandra; Haack, Tobias B; Hashim, Mona; Heide, Solveig; Helbig, Kathrine L; Helbig, Ingo; Heredia, Raul; Héron, Delphine; Isidor, Bertrand; Jonasson, Amy R.; Joset, Pascal; Keren, Boris; Kok, Fernando; Kroes, Hester; Lavillaureix, Alinoë; Lu, Xin; Maass, Saskia; Maegawa, Gustavo H B; Marcelis, Carlo M; Mark, Paul; Masruha, Marcelo; McLaughlin, Heather; McWalter, Kirsty; Melchinger, Esther; Mercimek-Andrews, Saadet; Nava, Caroline; Pendziwiat, Manuela; Person, Richard; Ramelli, Gian Paolo; Ramos, Luiza; Rauch, Anita; Reavey, Caitlin; Renieri, Alessandra; Rieß, Angelika; Sanchez-Valle, Amarilis; Sattar, Shifteh; Saunders, Carol; Schwarz, Niklas; Smol, Thomas; Srour, Myriam; Steindl, Katharina; Syrbe, Steffen; Taylor, Jenny C; Telegrafi, Aida; Thiffault, Isabelle; Trauner, Doris; van der Linden Jr., Helio; van Koningsbruggen, Silvana; Vilard, Laurent; Vogel, Ida; Vogt, Julie; Weber, Yvonne G; Wentzensen, Ingrid; Widjaja, Elysa; Zak, Jaroslav; Baxter, Samantha; Banka, Siddharth; Rodan, Lance H.

    In: American Journal of Human Genetics, Vol. 104, No. 6, 2019, p. 1210-1222.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  79. Published

    Population-Based Screening for Trisomies and Atypical Chromosomal Abnormalities : Improving Efficacy using the Combined First Trimester Screening Algorithm as well as Individual Risk Parameters. / Vogel, Ida; Tabor, Ann; Ekelund, Charlotte; Lou, Stina; Hyett, Jon; Petersen, Olav Bjørn; The Danish Fetal Medicine Study Group, and the Danish Cytogenetic Study Group.

    In: Fetal Diagnosis and Therapy, Vol. 45, No. 6, 2019, p. 424-429.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  80. Published

    Survival by colon cancer stage and screening interval in Lynch syndrome : A prospective Lynch syndrome database report. / Dominguez-Valentin, Mev; Seppälä, Toni T.; Sampson, Julian R.; MacRae, Finlay; Winship, Ingrid; Evans, D. Gareth; Scott, Rodney J.; Burn, John; Möslein, Gabriela; Bernstein, Inge; Pylvänäinen, Kirsi; Renkonen-Sinisalo, Laura; Lepistö, Anna; Lindblom, Annika; Plazzer, John Paul; Tjandra, Douglas; Thomas, Huw; Green, Kate; Lalloo, Fiona; Crosbie, Emma J.; Hill, James; Capella, Gabriel; Pineda, Marta; Navarro, Matilde; Vidal, Joan Brunet; Rønlund, Karina; Nielsen, Randi Thyregaard; Yilmaz, Mette; Elvang, Louise Laurberg; Katz, Lior; Nielsen, Maartje; Ten Broeke, Sanne W.; Nakken, Sigve; Hovig, Eivind; Sunde, Lone; Kloor, Matthias; Knebel Doeberitz, Magnus V.; Ahadova, Aysel; Lindor, Noralane; Steinke-Lange, Verena; Holinski-Feder, Elke; Mecklin, Jukka Pekka; Møller, Pål.

    In: Hereditary cancer in clinical practice, Vol. 17, No. 1, 28, 2019.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  81. Published

    The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer. / Figlioli, Gisella; Bogliolo, Massimo; Catucci, Irene; Caleca, Laura; Lasheras, Sandra Viz; Pujol, Roser; Kiiski, Johanna I.; Muranen, Taru A.; Barnes, Daniel R.; Dennis, Joe; Michailidou, Kyriaki; Bolla, Manjeet K.; Leslie, Goska; Aalfs, Cora M.; ABCTB Investigators; Adank, Muriel A.; Adlard, Julian; Agata, Simona; Cadoo, Karen; Agnarsson, Bjarni A.; Ahearn, Thomas; Aittomäki, Kristiina; Ambrosone, Christine B.; Andrews, Lesley; Anton-Culver, Hoda; Antonenkova, Natalia N.; Arndt, Volker; Arnold, Norbert; Aronson, Kristan J.; Arun, Banu K.; Asseryanis, Ella; Auber, Bernd; Bojesen, Anders; Nielsen, Finn Cilius; Nielsen, Sarah; GEMO Study Collaborators; KConFab.

    In: NPJ Breast Cancer, Vol. 5, 38, 2019.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  82. 2018
  83. Published

    CRISPR-C : circularization of genes and chromosome by CRISPR in human cells. / Møller, Henrik Devitt; Lin, Lin; Xiang, Xi; Petersen, Trine Skov; Huang, Jinrong; Yang, Luhan; Kjeldsen, Eigil; Jensen, Uffe Birk; Zhang, Xiuqing; Liu, Xin; Xu, Xun; Wang, Jian; Yang, Huanming; Church, George M; Bolund, Lars; Regenberg, Birgitte; Luo, Yonglun.

    In: Nucleic Acids Research, Vol. 46, No. 22, 14.12.2018, p. e131.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  84. Published

    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]. / 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.

    In: Molecular Genetics and Metabolism, Vol. 125, No. 4, 12.2018, p. 361-361.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperComment/debateResearchpeer-review

  85. Published

    Prognosis for pregnancies with trisomy 16 confined to the placenta : a Danish cohort study. / Grau Madsen, Sandra; Uldbjerg, Niels; Sunde, Lone; Becher, Naja; Danish Fetal Medicine Study Group.

    In: Prenatal Diagnosis, Vol. 38, No. 13, 12.2018, p. 1103-1110.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  86. Published

    Skewed ratio between type 1 and type 2 calreticulin mutations in essential thrombocytosis patients with concomitant Janus kinase 2 V617F mutation. / Haunstrup, Laura Mors; Ebbesen, Lene Hyldahl; Hansen, Maria; Severinsen, Marianne Tang; Aggerholm, Anni.

    In: Experimental Hematology, Vol. 68, https://doi.org/10.1016/j.exphem.2018.09.007, 12.2018, p. 62-65.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  87. Published

    Increased susceptibility to cortical spreading depression and epileptiform activity in a mouse model for FHM2. / Kros, Lieke; Lykke-Hartmann, Karin; Khodakhah, Kamran.

    In: Scientific Reports, Vol. 8, No. 1, 16959, 16.11.2018.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  88. Published

    The Endo-Lysosomal System of Brain Endothelial Cells Is Influenced by Astrocytes In Vitro. / Toth, Andrea E; Siupka, Piotr; P Augustine, Thomas J; Venø, Susanne T; Thomsen, Louiza B; Moos, Torben; Lohi, Hannes T; Madsen, Peder; Lykke-Hartmann, Karin; Nielsen, Morten S.

    In: Molecular Neurobiology, Vol. 55, No. 11, 11.2018, p. 8522-8537.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  89. Published

    Danish Sonographers’ Experiences of the Introduction of "Moderate Risk" in Prenatal Screening for Down Syndrome. / Møller, Anne; Vogel, Ida; Petersen, Olav Bjørn; Lou, Stina .

    In: Journal of Pregnancy, Vol. 2018, 1646035, 09.10.2018, p. 1-7.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  90. Published

    Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome. / Huijsdens-van Amsterdam, Karin; Page-Christiaens, Lieve; Flowers, Nicola; Bonifacio, Michael D.; Ellis, Katie M.Battese; Vogel, Ida; Vestergaard, Else Marie; Miguelez, Javier; de Carvalho, Mario Henrique Burlacchini; Sistermans, Erik A.; Pertile, Mark D.

    In: European Journal of Human Genetics, Vol. 26, No. 10, 01.10.2018, p. 1490-1496.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  91. Published

    Termination of pregnancy following a prenatal diagnosis of Down syndrome: a qualitative study of the decision-making process of pregnant couples. / Lou, Stina; Carstensen, Kathrine; Petersen, Olav Bjørn; Nielsen, Camilla Palmhøj; Hvidman, Lone; Lanther, Maja Retpen; Vogel, Ida.

    In: Acta Obstetricia et Gynecologica Scandinavica, Vol. 97, No. 10, 23.09.2018, p. 1228-1236.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  92. Published

    Hydatidiform mole : validity of the registration in the Danish National Patient Registry, the Danish Cancer Registry, and the Danish Pathology Registry 1999-2009. / Lund, Helle; Vyberg, Mogens; Eriksen, Helle Hojmark; Grove, Anni; Jensen, Annette Ostergaard; Sunde, Lone.

    In: Clinical epidemiology, Vol. 10, 18.09.2018, p. 1223-1231.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  93. Published

    DNA hypermethylation and differential gene expression associated with Klinefelter syndrome. / Skakkebæk, Anne; Nielsen, Morten Muhlig; Trolle, Christian; Vang, Søren; Hornshøj, Henrik; Hedegaard, Jakob; Wallentin, Mikkel; Bojesen, Anders; Hertz, Jens Michael; Fedder, Jens; Østergaard, John Rosendahl; Pedersen, Jakob Skou; Gravholt, Claus Højbjerg.

    In: Scientific Reports, Vol. 8, No. 1, 13740, 13.09.2018.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  94. Published

    Novel TRPV4 variant causes a severe form of metatropic dysplasia. / Graversen, Lise; Haagerup, Annette; Andersen, Brian N.; Petersen, Karin K.; Gjørup, Vibike; Gudmundsdottir, Gudrun; Vogel, Ida; Gregersen, Pernille A.

    In: Clinical Case Reports, Vol. 6, No. 9, 01.09.2018, p. 1774-1778.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  95. Published

    Klinefelter syndrome - integrating genetics, neuropsychology and endocrinology. / Gravholt, Claus H; Chang, Simon; Wallentin, Mikkel; Fedder, Jens; Moore, Philip; Skakkebæk, Anne.

    In: Endocrine Reviews, Vol. 39, No. 4, 08.08.2018, p. 389-423.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  96. Published

    Two brothers with identical variants of the CLCN5 gene-one developing Dent's disease. / Fischer, Anne Sophie; Marcussen, Niels; Rasmussen, Maria; Randers, Else.

    In: Clinical Kidney Journal, Vol. 11, No. 4, 08.2018, p. 459-461.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  97. Published

    Transcriptome analysis of long non-coding RNAs and genes encoding paraspeckle proteins during human ovarian follicle development. / Ernst, Emil H.; Nielsen, Julie; Ipsen, Malene B.; Villesen, Palle; Lykke-Hartmann, Karin.

    In: Frontiers in Cell and Developmental Biology, Vol. 6, No. 78, 78, 24.07.2018.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  98. Published

    Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes. / Whitworth, James; Smith, Philip S; Martin, Jose-Ezequiel; West, Hannah; Luchetti, Andrea; Rodger, Faye; Clark, Graeme; Carss, Keren; Stephens, Jonathan; Stirrups, Kathleen; Penkett, Chris; Mapeta, Rutendo; Ashford, Sofie; Megy, Karyn; Shakeel, Hassan; Ahmed, Munaza; Adlard, Julian; Barwell, Julian; Brewer, Carole; Casey, Ruth T; Armstrong, Ruth; Cole, Trevor; Evans, Dafydd Gareth; Fostira, Florentia; Greenhalgh, Lynn; Hanson, Helen; Henderson, Alex; Hoffman, Jonathan; Izatt, Louise; Kumar, Ajith; Kwong, Ava; Lalloo, Fiona; Ong, Kai Ren; Paterson, Joan; Park, Soo-Mi; Chen-Shtoyerman, Rakefet; Searle, Claire; Side, Lucy; Skytte, Anne-Bine; Snape, Katie; Woodward, Emma R; NIHR BioResource Rare Diseases Consortium.

    In: American Journal of Human Genetics, Vol. 103, No. 1, 05.07.2018, p. 3-18.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  99. Published

    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. / Møller, Pål; Seppälä, Toni T; Bernstein, Inge; Holinski-Feder, Elke; Sala, Paulo; Gareth Evans, D; Lindblom, Annika; Macrae, Finlay; Blanco, Ignacio; Sijmons, Rolf H; Jeffries, Jacqueline; Vasen, Hans F A; Burn, John; Nakken, Sigve; Hovig, Eivind; Rødland, Einar Andreas; Tharmaratnam, Kukatharmini; de Vos Tot Nederveen Cappel, Wouter H; Hill, James; Wijnen, Juul T; Jenkins, Mark A; Green, Kate; Lalloo, Fiona; Sunde, Lone; Mints, Miriam; Bertario, Lucio; Pineda, Marta; Navarro, Matilde; Morak, Monika; Renkonen-Sinisalo, Laura; Valentin, Mev Dominguez; Frayling, Ian M; Plazzer, John-Paul; Pylvanainen, Kirsi; Genuardi, Maurizio; Mecklin, Jukka-Pekka; Moeslein, Gabriela; Sampson, Julian R; Capella, Gabriel; Mallorca Group.

    In: Gut, Vol. 67, No. 7, 07.2018, p. 1306-1316.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  100. Published

    Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14. / Chelban, Viorica; Wiethoff, Sarah; Fabian-Jessing, Bjørn K; Haridy, Nourelhoda A; Khan, Alaa; Efthymiou, Stephanie; Becker, Esther B E; O'Connor, Emer; Hersheson, Joshua; Newland, Katrina; Hojland, Allan Thomas; Gregersen, Pernille A; Lindquist, Suzanne G; Petersen, Michael B; Nielsen, Jørgen E; Nielsen, Michael; Wood, Nicholas W; Giunti, Paola; Houlden, Henry.

    In: Movement Disorders, Vol. 33, No. 7, 07.2018, p. 1119-1129.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  101. Published

    Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes. / Halgren, Christina; Nielsen, Nete M.; Nazaryan-Petersen, Lusine; Silahtaroglu, Asli; Collins, Ryan L.; Lowther, Chelsea; Kjaergaard, Susanne; Frisch, Morten; Kirchhoff, Maria; Brøndum-Nielsen, Karen; Lind-Thomsen, Allan; Mang, Yuan; El-Schich, Zahra; Boring, Claire A.; Mehrjouy, Mana M.; Jensen, Peter K.A.; Fagerberg, Christina; Krogh, Lotte N.; Hansen, Jan; Bryndorf, Thue; Hansen, Claus; Talkowski, Michael E.; Bak, Mads; Tommerup, Niels; Bache, Iben.

    In: American Journal of Human Genetics, Vol. 102, No. 6, 07.06.2018, p. 1090-1103.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  102. Published

    Choroid plexus hyperplasia and chromosome 9p gains. / Boxill, Martin; Becher, Naja; Sunde, Lone; Thelle, Thomas.

    In: American Journal of Medical Genetics, Part A, Vol. 176A, No. 6, 01.06.2018, p. 1416-1422.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  103. Published

    Sural nerve conduction studies in differentiation of hereditary and inflammatory demyelinating polyneuropathies. / Sørensen , Daniel ; Væth, Signe; Fuglsang-Frederiksen, Anders; Andersen, Henning; Jensen, Uffe Birk; Tankisi, Hatice.

    In: Clinical Neurophysiology, Vol. 129, No. Supplement 1, T30, 10.05.2018, p. e13.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperConference abstract in journalResearchpeer-review

  104. Published

    Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. / EMBRACE; GEMO Study Collaborators; HEBON; KConFab Investigators.

    In: Human Mutation, Vol. 39, No. 5, 01.05.2018, p. 593-620.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

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