1. 2018
  2. Published

    Impaired aortic distensibility and elevated central blood pressure in Turner Syndrome: a cardiovascular magnetic resonance study. / Wen, Jan; Trolle, Christian; Viuff, Mette H; Ringgaard, Steffen; Laugesen, Esben; Gutmark, Ephraim J; Subramaniam, Dhananjay Radhakrishnan; Backeljauw, Philippe; Gutmark-Little, Iris; Andersen, Niels H; Mortensen, Kristian H; Gravholt, Claus H.

    In: Journal of Cardiovascular Magnetic Resonance, Vol. 20, No. 1, 13.12.2018, p. 80.

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

  3. Published

    Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants. / Dadaev, Tokhir; Saunders, Edward J; Newcombe, Paul J; Anokian, Ezequiel; Leongamornlert, Daniel A; Brook, Mark N; Cieza-Borrella, Clara; Mijuskovic, Martina; Wakerell, Sarah; Olama, Ali Amin Al; Schumacher, Fredrick R; Berndt, Sonja I; Benlloch, Sara; Ahmed, Mahbubl; Goh, Chee; Sheng, Xin; Zhang, Zhuo; Muir, Kenneth; Govindasami, Koveela; Lophatananon, Artitaya; Stevens, Victoria L; Gapstur, Susan M; Carter, Brian D; Tangen, Catherine M; Goodman, Phyllis; Thompson, Ian M; Batra, Jyotsna; Chambers, Suzanne; Moya, Leire; Clements, Judith; Horvath, Lisa; Tilley, Wayne; Risbridger, Gail; Gronberg, Henrik; Aly, Markus; Nordström, Tobias; Pharoah, Paul; Pashayan, Nora; Schleutker, Johanna; Tammela, Teuvo L J; Sipeky, Csilla; Auvinen, Anssi; Albanes, Demetrius; PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium.

    In: Nature Communications, Vol. 9, No. 1, 2256, 01.12.2018.

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

  4. Published

    Large-scale transcriptome-wide association study identifies new prostate cancer risk regions. / The PRACTICAL consortium.

    In: Nature Communications, Vol. 9, No. 1, 4079, 01.12.2018.

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

  5. Published

    Optimized targeted sequencing of cell-free plasma DNA from bladder cancer patients. / Christensen, Emil; Nordentoft, Iver; Vang, Søren; Birkenkamp-Demtröder, Karin; Jensen, Jørgen Bjerggaard; Agerbæk, Mads; Pedersen, Jakob Skou; Dyrskjøt, Lars.

    In: Scientific Reports, Vol. 8, No. 1, 1917, 01.12.2018.

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

  6. Published

    Diagnostic and Prognostic MicroRNA Biomarkers for Prostate Cancer in Cell-free Urine. / Fredsøe, Jacob; Rasmussen, Anne K I; Thomsen, Anni R; Mouritzen, Peter; Høyer, Søren; Borre, Michael; Ørntoft, Torben F; Sørensen, Karina D.

    In: European Urology Focus, Vol. 4, No. 6, 12.2018, p. 825-833.

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

  7. Published

    Discordant molecular subtype classification in the basal-squamous subtype of bladder tumors and matched lymph-node metastases. / Sjödahl, Gottfrid; Eriksson, Pontus; Lövgren, Kristina; Marzouka, Nour-Al-Dain; Bernardo, Carina; Nordentoft, Iver; Dyrskjøt, Lars; Liedberg, Fredrik; Höglund, Mattias.

    In: Modern Pathology, Vol. 31, No. 12, 12.2018, p. 1869-1881.

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

  8. Published

    Exploring the transcriptome of hormone-naive multifocal prostate cancer and matched lymph node metastases. / Schmidt, Linnéa; Møller, Mia; Haldrup, Christa; Strand, Siri H; Vang, Søren; Hedegaard, Jakob; Høyer, Søren; Borre, Michael; Ørntoft, Torben; Sørensen, Karina Dalsgaard.

    In: British Journal of Cancer, Vol. 119, No. 12, 12.2018, p. 1527-1537.

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

  9. Published

    Germline variation at 8q24 and prostate cancer risk in men of European ancestry. / PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium.

    In: Nature Communications, Vol. 9, No. 1, 05.11.2018.

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

  10. Published

    Implantable cardioverter defibrillator therapy and device-related complications in young patients with inherited cardiomyopathies or channelopathies: a 17-year cohort study. / Petersen, Lærke D D; Christiansen, Morten K; Pedersen, Lisbeth N; Nielsen, Jens C; Broendberg, Anders K; Jensen, Henrik K.

    In: Europace, Vol. 20, No. 11, 01.11.2018, p. 1849-1855.

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

  11. Published

    Serial plasma ctDNA sequencing for early detection of metastatic relapse and monitoring of therapeutic efficacy in Bladder Cancer. / Birkenkamp-Demtröder, Karin; Christensen, Emil; Sethi, Himanshu; Sharma, Shruti; Wu, Hsin-Ta; Nordentoft, Iver Kristiansen; Taber, Ann; Vang, Søren; Lamy, Philippe; Knudsen, Michael; Salari, Raheleh; Shchegrova, Svetlana; Lin, Cheng-Ho Jimmy; Agerbæk, Mads; Zimmermann, Bernhard; Jensen, Jørgen Bjerggaard; Dyrskjøt, Lars.

    2018. Poster session presented at 2nd Annual Research Meeting at the Department of Clinical Medicine, Aarhus, Denmark.

    Research output: Contribution to conferencePosterResearchpeer-review

  12. Published

    Biology of nonmuscle-invasive bladder cancer : pathology, genomic implications, and immunology. / Dyrskjøt, Lars; Ingersoll, Molly A.

    In: Current Opinion in Urology, Vol. 28, No. 6, 11.2018, p. 598-603.

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

  13. Published

    Cardiovascular imaging in Turner syndrome: state-of-the-art practice across the lifespan. / Mortensen, Kristian H; Young, Luciana; De Backer, Julie; Silberbach, Michael; Collins, Ronnie Thomas; Duijnhouwer, Anthonie L; Pandya, Bejal; Gravholt, Claus H; Lopez, Leo; Roos-Hesselink, Jolien W.

    In: Heart, Vol. 104, No. 22, 11.2018, p. 1823-1831.

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

  14. Published

    Picomolar sensitive and SNP-selective "Off-On" hairpin genosensor based on structure-tunable redox indicator signals. / Kékedy-Nagy, László; Sørensen, Karina Dalsgaard; Ferapontova, Elena E.

    In: Biosensors and Bioelectronics, Vol. 117, 15.10.2018, p. 444-449.

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

  15. Published

    Incidence and prevalence of multiple endocrine neoplasia 2A in Denmark 1901-2014: a nationwide study. / Mathiesen, Jes Sloth; Kroustrup, Jens Peter; Vestergaard, Peter; Stochholm, Kirstine; Poulsen, Per Løgstrup; Rasmussen, Åse Krogh; Feldt-Rasmussen, Ulla; Schytte, Sten; Pedersen, Henrik Baymler; Hahn, Christoffer Holst; Bentzen, Jens; Möller, Sören; Gaustadnes, Mette; Rossing, Maria; Nielsen, Finn Cilius; Brixen, Kim; Frederiksen, Anja Lisbeth; Godballe, Christian.

    In: Clinical epidemiology, Vol. 10, 12.10.2018, p. 1479-1487.

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

  16. Published

    Can secondary contact following range expansion be distinguished from barriers to gene flow? / Bertl, Johanna; Ringbauer, Harald; Blum, Michael G.B.

    In: PeerJ, Vol. 6, e5325, 01.10.2018, p. e5325.

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

  17. Published

    Causes of Mortality in the Marfan Syndrome (from a Nationwide Register Study). / Groth, Kristian A; Stochholm, Kirstine; Hove, Hanne; Andersen, Niels H; Gravholt, Claus H.

    In: The American Journal of Cardiology, Vol. 122, No. 7, 01.10.2018, p. 1231-1235.

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

  18. Published

    TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome. / GenTAC Registry Investigators.

    In: PLOS Genetics, Vol. 14, No. 10, e1007692, 01.10.2018.

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

  19. Published

    Triage for selection to colonoscopy? / Mertz-Petersen, Mathias; Piper, Thomas B; Kleif, Jakob; Ferm, Linnea; Christensen, Ib Jarle; Nielsen, Hans J; Erlandsen, Erland Jørn (Member of author collaboration); Andersen, Claus Lindbjerg (Member of author collaboration); Danish Collaborative Group on Early Detection of Colorectal Neoplasia.

    In: European Journal of Surgical Oncology, Vol. 44, No. 10, 10.2018, p. 1539-1541.

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

  20. 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

  21. Published

    Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma. / Went, Molly; Sud, Amit; Försti, Asta; Halvarsson, Britt-Marie; Weinhold, Niels; Kimber, Scott; van Duin, Mark; Thorleifsson, Gudmar; Holroyd, Amy; Johnson, David C; Li, Ni; Orlando, Giulia; Law, Philip J; Ali, Mina; Chen, Bowang; Mitchell, Jonathan S; Gudbjartsson, Daniel F; Kuiper, Rowan; Stephens, Owen W; Bertsch, Uta; Broderick, Peter; Campo, Chiara; Bandapalli, Obul R; Einsele, Hermann; Gregory, Walter A; Gullberg, Urban; Hillengass, Jens; Hoffmann, Per; Jackson, Graham H; Jöckel, Karl-Heinz; Johnsson, Ellinor; Kristinsson, Sigurður Y; Mellqvist, Ulf-Henrik; Nahi, Hareth; Easton, Douglas; Pharoah, Paul; Dunning, Alison; Peto, Julian; Canzian, Federico; Swerdlow, Anthony; Eeles, Rosalind A; Kote-Jarai, ZSofia; Muir, Kenneth; Pashayan, Nora; Nickel, Jolanta; Nöthen, Markus M; Rafnar, Thorunn; Thomsen, Hauke; The PRACTICAL Consortium ; Andersen, Niels Frost (Member of author collaboration); Sørensen, Karina Dalsgaard (Member of author collaboration).

    In: Nature Communications, Vol. 9, No. 1, 3707, 13.09.2018, p. 3707.

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

  22. Published

    Contribution of allelic imbalance to colorectal cancer. / Palin, Kimmo; Pitkänen, Esa; Turunen, Mikko; Sahu, Biswajyoti; Pihlajamaa, Päivi; Kivioja, Teemu; Kaasinen, Eevi; Välimäki, Niko; Hänninen, Ulrika A; Cajuso, Tatiana; Aavikko, Mervi; Tuupanen, Sari; Kilpivaara, Outi; van den Berg, Linda; Kondelin, Johanna; Tanskanen, Tomas; Katainen, Riku; Grau, Marta; Rauanheimo, Heli; Plaketti, Roosa-Maria; Taira, Aurora; Sulo, Päivi; Hartonen, Tuomo; Dave, Kashyap; Schmierer, Bernhard; Botla, Sandeep; Sokolova, Maria; Vähärautio, Anna; Gladysz, Kornelia; Ongen, Halit; Dermitzakis, Emmanouil; Bramsen, Jesper Bertram; Ørntoft, Torben Falck; Andersen, Claus Lindbjerg; Ristimäki, Ari; Lepistö, Anna; Renkonen-Sinisalo, Laura; Mecklin, Jukka-Pekka; Taipale, Jussi; Aaltonen, Lauri A.

    In: Nature Communications, Vol. 9, 3664, 10.09.2018.

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

  23. Published

    STAG2 Is a Biomarker for Prediction of Recurrence and Progression in Papillary Non-Muscle-Invasive Bladder Cancer. / Lelo, Alana; Prip, Frederik; Harris, Brent T; Solomon, David; Berry, Deborah L; Chaldekas, Krysta; Kumar, Anagha; Simko, Jeffry; Jensen, Jørgen Bjerggaard; Bhattacharyya, Pritish; Mannion, Ciaran; Kim, Jung-Sik; Philips, George; Dyrskjøt, Lars; Waldman, Todd.

    In: Clinical Cancer Research, Vol. 24, No. 17, 01.09.2018, p. 4145-4153.

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

  24. Published

    Training and validation of a novel 4-miRNA ratio model (MiCaP) for prediction of postoperative outcome in prostate cancer patients. / Schmidt, L.; Fredsøe, J.; Kristensen, H.; Strand, S. H.; Rasmussen, A.; Høyer, S.; Borre, M.; Mouritzen, P.; Ørntoft, T.; Sørensen, K. D.

    In: Annals of Oncology, Vol. 29, No. 9, 01.09.2018, p. 2003-2009.

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

  25. Published

    FOXM1 predicts disease progression in non-muscle invasive bladder cancer. / Rinaldetti, Sebastien; Wirtz, Ralph; Worst, Thomas Stefan; Hartmann, Arndt; Breyer, Johannes; Dyrskjot, Lars; Erben, Philipp.

    In: Journal of Cancer Research and Clinical Oncology, Vol. 144, No. 9, 09.2018, p. 1701-1709.

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

  26. 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

  27. Published

    Dysregulation and prognostic potential of 5-methylcytosine (5mC), 5-hydroxymethylcytosine (5hmC), 5-formylcytosine (5fC), and 5-carboxylcytosine (5caC) levels in prostate cancer. / Storebjerg, Tine Maj; Strand, Siri H; Høyer, Søren; Lynnerup, Anne-Sofie; Borre, Michael; Ørntoft, Torben F; Sørensen, Karina D.

    In: Clinical Epigenetics, Vol. 10, No. 1, 105, 07.08.2018, p. 105.

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

  28. Published

    Outcome of clinical management in relatives of sudden cardiac death victims. / Müllertz, Katrine M; Christiansen, Morten K; Broendberg, Anders K; Pedersen, Lisbeth N; Jensen, Henrik K.

    In: International Journal of Cardiology, Vol. 262, 01.07.2018, p. 45-50.

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

  29. Published

    Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci. / Schumacher, Fredrick R; Al Olama, Ali Amin; Berndt, Sonja I; Benlloch, Sara; Ahmed, Mahbubl; Saunders, Edward J; Dadaev, Tokhir; Leongamornlert, Daniel; Anokian, Ezequiel; Cieza-Borrella, Clara; Goh, Chee; Brook, Mark N; Sheng, Xin; Fachal, Laura; Dennis, Joe; Tyrer, Jonathan; Muir, Kenneth; Lophatananon, Artitaya; Stevens, Victoria L; Gapstur, Susan M; Carter, Brian D; Tangen, Catherine M; Goodman, Phyllis J; Thompson, Ian M; Batra, Jyotsna; Chambers, Suzanne; Moya, Leire; Clements, Judith; Horvath, Lisa; Tilley, Wayne; Risbridger, Gail P; Gronberg, Henrik; Aly, Markus; Nordström, Tobias; Pharoah, Paul; Pashayan, Nora; Schleutker, Johanna; Tammela, Teuvo L J; Sipeky, Csilla; Auvinen, Anssi; Albanes, Demetrius; Weinstein, Stephanie; Wolk, Alicja; Sorensen, Karina Dalsgaard; Orntoft, Torben Falck; Borre, Michael; Profile Study.

    In: Nature Genetics, Vol. 50, No. 7, 07.2018, p. 928-936.

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

  30. Published

    Incidence and prevalence of sporadic and hereditary MTC in Denmark 1960-2014: a nationwide study. / Mathiesen, Jes Sloth; Kroustrup, Jens Peter; Vestergaard, Peter; Stochholm, Kirstine; Poulsen, Per Løgstrup; Rasmussen, Åse Krogh; Feldt-Rasmussen, Ulla; Schytte, Sten; Londero, Stefano Christian; Pedersen, Henrik Baymler; Hahn, Christoffer Holst; Djurhuus, Bjarki Ditlev; Bentzen, Jens; Möller, Sören; Gaustadnes, Mette; Rossing, Maria; Nielsen, Finn Cilius; Brixen, Kim; Frederiksen, Anja Lisbeth; Godballe, Christian; Danish Thyroid Cancer Group (DATHYRCA).

    In: Endocrine Connections, Vol. 7, No. 6, 06.2018, p. 829-839.

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

  31. Published

    Review of Blood-Based Colorectal Cancer Screening : How Far Are Circulating Cell-Free DNA Methylation Markers From Clinical Implementation? / Worm Ørntoft, Mai Britt.

    In: Clinical colorectal cancer, Vol. 17, No. 2, 06.2018, p. e415-e433.

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

  32. Published

    Estrogen Replacement in Turner Syndrome: Literature Review and Practical Considerations. / Klein, Karen O; Rosenfield, Robert L; Santen, Richard J; Gawlik, Aneta M; Backeljauw, Philippe F; Gravholt, Claus H; Sas, Theo C J; Mauras, Nelly.

    In: Journal of Clinical Endocrinology and Metabolism, Vol. 103, No. 5, 01.05.2018, p. 1790-1803.

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

  33. Published

    Impact of type 1 diabetes on maternal long-term risk of hospitalisation and mortality : a nationwide combined clinical and register-based cohort study (The EPICOM study). / Knorr, Sine; Juul, Svend; Bytoft, Birgitte; Lohse, Zuzana; Clausen, Tine D; Jensen, Rikke B; Damm, Peter; Beck-Nielsen, Henning; Mathiesen, Elisabeth R; Jensen, Dorte M; Gravholt, Claus H.

    In: Diabetologia, Vol. 61, No. 5, 01.05.2018, p. 1071-1080.

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

  34. Published

    A site specific model and analysis of the neutral somatic mutation rate in whole-genome cancer data. / Bertl, Johanna; Guo, Qianyun; Juul, Malene; Besenbacher, Søren; Nielsen, Morten Muhlig; Hornshøj, Henrik; Pedersen, Jakob Skou; Hobolth, Asger.

    In: BMC Bioinformatics , Vol. 19, No. 147, 19.04.2018.

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

  35. Published

    Multifocal atrial and ventricular premature contractions with an increased risk of dilated cardiomyopathy caused by a Na1.5 gain-of-function mutation (G213D). / Calloe, Kirstine; Broendberg, Anders K; Christensen, Alex H; Pedersen, Lisbeth N; Olesen, Morten S; de Los Angeles Tejada, Maria; Friis, Soren; Thomsen, Morten B; Bundgaard, Henning; Jensen, Henrik K.

    In: International Journal of Cardiology, Vol. 257, 15.04.2018, p. 160-167.

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

  36. Published

    Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform. / Væth, Signe; Christensen, Rikke; Dunø, Morten; Lildballe, Dorte Launholt; Thorsen, Kasper; Vissing, John; Svenstrup, Kirsten; Hertz, Jens Michael; Andersen, Henning; Jensen, Uffe Birk.

    In: European Journal of Medical Genetics, 11.04.2018.

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

  37. Published

    Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia. / Vijayakrishnan, Jayaram; Studd, James; Broderick, Peter; Kinnersley, Ben; Holroyd, Amy; Law, Philip J; Kumar, Rajiv; Allan, James M; Harrison, Christine J; Moorman, Anthony V; Vora, Ajay; Roman, Eve; Rachakonda, Sivaramakrishna; Kinsey, Sally E; Sheridan, Eamonn; Thompson, Pamela D; Irving, Julie A; Koehler, Rolf; Hoffmann, Per; Nöthen, Markus M; Heilmann-Heimbach, Stefanie; Jöckel, Karl-Heinz; Easton, Douglas F; Pharaoh, Paul D P; Dunning, Alison M; Peto, Julian; Canzian, Frederico; Swerdlow, Anthony; Eeles, Rosalind A; Kote-Jarai, ZSofia; Muir, Kenneth; Pashayan, Nora; Greaves, Mel; Zimmerman, Martin; Bartram, Claus R; Schrappe, Martin; Stanulla, Martin; Hemminki, Kari; Houlston, Richard S; The PRACTICAL Consortium.

    In: Nature Communications, Vol. 9, No. 1, 09.04.2018, p. 1340.

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

  38. Published

    Biomarker potential of ST6GALNAC3 and ZNF660 promoter hypermethylation in prostate cancer tissue and liquid biopsies. / Haldrup, Christa; Pedersen, Anne L; Øgaard, Nadia; Strand, Siri H; Høyer, Søren; Borre, Michael; Ørntoft, Torben F; Sørensen, Karina D.

    In: Molecular Oncology, Vol. 12, No. 4, 04.2018, p. 545-560.

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

  39. Published

    Morbidity, mortality, and socioeconomics in females with 46,XY disorders of sex development: a nationwide study. / Berglund, Agnethe; Johannsen, Trine H; Stochholm, Kirstine; Viuff, Mette H; Fedder, Jens; Main, Katharina M; Gravholt, Claus H.

    In: Journal of Clinical Endocrinology and Metabolism, Vol. 103, No. 4, 04.2018, p. 1418-1428.

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

  40. Published

    Targeted next generation sequencing in a young population with suspected inherited malignant cardiac arrhythmias. / Broendberg, Anders Krogh; Christiansen, Morten Krogh; Nielsen, Jens Cosedis; Pedersen, Lisbeth Noerum; Jensen, Henrik Kjaerulf.

    In: European Journal of Human Genetics, Vol. 26, No. 3, 03.2018, p. 303-313.

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

  41. Published

    Perceptions about screening for prostate cancer using genetic lifetime risk assessment: a qualitative study. / Kirkegaard, Pia; Edwards, Adrian; Nielsen, Trine Laura Overgaard; Ørntoft, Torben Falck; Sørensen, Karina Dalsgaard; Borre, Michael; Bro, Flemming.

    In: B M C Family Practice, Vol. 19, No. 1, 32, 17.02.2018.

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

  42. Published

    The T790M resistance mutation in EGFR is only found in cfDNA from erlotinib-treated NSCLC patients that harbored an activating EGFR mutation before treatment. / Demuth, Christina; Madsen, Anne Tranberg; Weber, Britta; Wu, Lin; Meldgaard, Peter; Sorensen, Boe Sandahl.

    In: BMC Cancer, Vol. 18, No. 1, 15.02.2018, p. 191.

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

  43. Published

    #3653 Sequencing of plasma cfDNA from patients with locally advanced bladder cancer for surveillance and therapeutic efficacy monitoring. / Birkenkamp-Demtröder, Karin; Christensen, Emil; Sharma, Shruti; Taber, Ann; Agerbæk, Mads; Sethi, Himanshu; Lamy, Philippe; Nordentoft, Iver Kristiansen; Moshkevich, Solomon ; Zimmermann, Bernhard; Lin, Cheng-Ho Jimmy; Jensen, Jørgen Bjerggaard; Dyrskjøt, Lars.

    2018. Poster session presented at AACR ANNUAL MEETING 2018, Chicago, .

    Research output: Contribution to conferencePosterResearchpeer-review

  44. Published

    Pan-cancer screen for mutations in non-coding elements with conservation and cancer specificity reveals correlations with expression and survival. / Hornshøj, Henrik; Nielsen, Morten Muhlig; Sinnott-Armstrong, Nicholas A; Świtnicki, Michał P; Juul, Malene; Madsen, Tobias; Sallari, Richard; Kellis, Manolis; Ørntoft, Torben; Hobolth, Asger; Pedersen, Jakob Skou.

    In: npj Genomic Medicine, Vol. 3, 11.01.2018, p. 1.

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

  45. Published

    Differential effects of age and sex on insulin sensitivity and body composition in adolescent offspring of women with type 1 diabetes: results from the EPICOM study. / Lohse, Zuzana; Knorr, Sine; Bytoft, Birgitte; Clausen, Tine D; Jensen, Rikke B; Oturai, Peter; Beck-Nielsen, Henning; Gravholt, Claus H; Damm, Peter; Højlund, Kurt; Jensen, Dorte M.

    In: Diabetologia, Vol. 61, No. 1, 01.01.2018, p. 210-219.

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

  46. Published

    #86P Longitudinal Assessment of Multiplex Patient-Specific ctDNA Biomarkers in Bladder Cancer for Diagnosis, Surveillance, and Recurrence. / Birkenkamp-Demtröder, Karin; Christensen, Emil; Sethi, Himanshu; Sharma, Shruti; Wu, Hsin-Ta; Taber, Ann; Agerbæk, Mads; Jensen, Jørgen Bjerggaard; Dyrskjøt, Lars.

    2018. Abstract from ESMO 2018 Congress, München, Germany.

    Research output: Contribution to conferenceConference abstract for conferenceResearchpeer-review

  47. Published

    A Rare Case of Embryonal Carcinoma in a Patient with Turner Syndrome without Y Chromosomal Material but Mutations in KIT, AKT1, and ZNF358 Demonstrated Using Exome Sequencing. / Gravholt, Claus H; Dollerup, Ole L; Duval, Lone; Mejlgaard, Else; Stribolt, Katrine; Vang, Søren; Laursen, Britt E; Knudsen, Michael; Thorsen, Kasper; Hersmus, Remko; Looijenga, Leendert H J; Stochholm, Kirstine.

    In: Sexual Development, Vol. 11, No. 5-6, 2018, p. 262-268.

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

  48. Published
  49. Published

    Anxiety and depression in Klinefelter syndrome : The impact of personality and social engagement. / Skakkebæk, Anne; Moore, Philip J; Pedersen, Anders Degn; Bojesen, Anders; Kristensen, Maria Krarup; Fedder, Jens; Hertz, Jens Michael; Østergaard, John R; Wallentin, Mikkel; Gravholt, Claus Højbjerg.

    In: PLOS ONE, Vol. 13, No. 11, e0206932, 2018.

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

  50. Published

    Benign esophageal findings on 68Ga-Prostate-Specific-Membrane Antigen PET/CT scan. / Jochumsen, Mads Ryø; Klingenberg, Søren; Bouchelouche, Kirsten.

    In: Clinical Nuclear Medicine, Vol. 43(12), 2018, p. e468-e470.

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

  51. Published

    Case of successful IVF treatment of an oligospermic male with 46,XX/46,XY chimerism. / Laursen, R J; Alsbjerg, B; Vogel, I; Gravholt, C H; Elbaek, H; Lildballe, D L; Humaidan, P; Vestergaard, E M.

    In: Journal of Assisted Reproduction and Genetics, Vol. 35, 2018, p. 1325-1328.

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

  52. Published

    Characterization of genetic intratumor heterogeneity in colorectal cancer and matching patient-derived spheroid cultures. / Árnadóttir, Sigrid S; Jeppesen, Maria; Lamy, Philippe; Bramsen, Jesper B; Nordentoft, Iver; Knudsen, Michael; Vang, Søren; Madsen, Mogens R; Thastrup, Ole; Thastrup, Jacob; L Andersen, Claus.

    In: Molecular Oncology, Vol. 12, No. 1, 2018, p. 132–147.

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

  53. Published

    Circular RNAs are abundantly expressed and upregulated during human epidermal stem cell differentiation. / Kristensen, Lasse Sommer; Okholm, Trine Line Hauge; Venø, Morten Trillingsgaard; Kjems, Jørgen.

    In: RNA Biology, Vol. 15, No. 2, 2018, p. 1-12.

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

  54. Published

    Longitudinal Assessment of Multiplex Patient-Specific ctDNA Biomarkers in Bladder Cancer for Diagnosis, Surveillance, and Recurrence. / Birkenkamp-Demtröder, Karin; Christensen, Emil; Sethi, Himanshu; Sharma, Shruti; Wu, Hsin-Ta; Taber, Ann; Agerbæk, Mads; Zimmermann, Bernhard; Lin, Cheng-Ho Jimmy; Jensen, Jørgen Bjerggaard; Dyrskjøt, Lars.

    2018. Abstract from IBCN The International Bladder Cancer Network Annual Meeting 2018, Rotterdam, Netherlands.

    Research output: Contribution to conferenceConference abstract for conferenceResearchpeer-review

  55. Published

    Quality of life in men with Klinefelter syndrome: the impact of genotype, health, socioeconomics, and sexual function. / Skakkebæk, Anne; Moore, Philip J; Chang, Simon; Fedder, Jens; Gravholt, Claus H.

    In: Genetics in Medicine, Vol. 20, No. 2, 2018, p. 214-222.

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

  56. Published

    Regmex : A statistical tool for exploring motifs in ranked sequence lists from genomics experiments. / Nielsen, Morten Muhlig; Tataru, Paula; Madsen, Tobias; Hobolth, Asger; Pedersen, Jakob Skou.

    In: Algorithms for Molecular Biology, Vol. 13, No. 1, 17, 2018.

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

  57. Published

    The Impact of genetic Variants of STING and IFI16 on Non-Small Cell Lung Cancer. / Gammelgaard, Kristine Raaby; Paulsen, Birgitte Sandfeld; Demuth, Christina; Pedersen, Jesper Geert; Nyegaard, Mette; Meldgaard, Peter; Sørensen, Boe Sandahl; Jakobsen, Martin Roelsgaard.

    2018. Poster session presented at HOST-PATHOGEN COMMUNICATION MEETING 2018, Rehovot, Israel.

    Research output: Contribution to conferencePosterResearchpeer-review