Department of Clinical Genetics

Research output

Research output per year 2007 2013 2019 2020 2021 2022 2023 2024

• 104 Journal article
• 22 Conference abstract in journal
• 11 Poster
• 9 Review article
• 12 More
  • 4 Conference abstract for conference
  • 4 Comment/debate
  • 1 Book chapter
  • 1 Conference abstract in proceeding
  • 1 Letter
  • 1 PhD thesis

Research output per year

Research output per year

Search results

• 2024

  Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant

  Seiersen, K. V., Henriksen, T. B., Andelius, T. C. K., Andreasen, L., Diemer, T., Gudmundsdottir, G., Vogel, I., Gjørup, V. & Gregersen, P. A., Feb 2024, In: European Journal of Medical Genetics. 67, 104894.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Short Stature 100%
  • Infant 100%
  • Homeobox 100%
  • Achondroplasia 100%
  • Clinical Finding 25%
  8 Downloads (Pure)

• Early mortality in children with cancer in Denmark and Sweden: The role of social background in a setting with universal healthcare

  Mogensen, H., Erdmann, F., Mader, L., Vrelits Sørensen, G., Talbäck, M., Nielsen, T. T., Hasle, H., Heyman, M., Winther, J. F., Feychting, M., Tettamanti, G. & Kenborg, L., 15 May 2024, In: International Journal of Cancer. 154, 10, p. 1719-1730 12 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  • Mortality 100%
  • Cancer 100%
  • Child 100%
  • Social Background 100%
  • Malignant Neoplasm 100%

• Exploring formal and informal learning opportunities during morning report: a qualitative study

  Møller, J. E., Skipper, M., Sunde, L., Sørensen, A., Balslev, T. & Malling, B. V., 23 Feb 2024, In: BMC Medical Education. 24, 1, 184.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Learning 100%
  • Qualitative Research 100%
  • Informal Learning 100%
  • Formal Learning 100%
  • Learning Opportunity 100%
  9 Downloads (Pure)

• Germline variants in patients with end-stage cancer

  Lundsgaard, M., Mapendano, C., Sønderkær, M., Ernst, A., Pedersen, I. S., Nohr, A. K., Ladekarl, M. & Sunde, L., 8 Jan 2024, In: European Journal of Human Genetics. 32, Suppl. 1, p. 557 1 p., P13.039.C.

  Research output: Contribution to journal › Conference abstract in journal › Research › peer-review

• Human osteoclasts in vitro are dose dependently both inhibited and stimulated by cannabidiol (CBD) and Δ9-tetrahydrocannabinol (THC)

  Nielsen, S. R., Juliana A.Z. Pedersen, J., Sharma, N., Wasehuus, P. K., S. Hansen, M., M.J. Møller, A., G. Borggaard, X., Rauch, A., Frost, M., Sondergaard, T. E. & Søe, K., 9 Feb 2024, In: Bone. 181

  Research output: Contribution to journal › Journal article › Research › peer-review

• Meta-analysis of ACE inhibitor–induced angioedema identifies novel risk locus

  Estonian Biobank Research Team & DBDS Genomic Consortium, Apr 2024, In: Journal of Allergy and Clinical Immunology. 153, 4, p. 1073-1082 10 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  • Enzyme Inhibitor 100%
  • Angiotensin-Converting Enzyme 100%
  • Angioedema 100%
  • Genetic Determinism 22%
  • Genetics 22%
  1 Citation (Scopus)

• Mosaicism for a variant in PTCH1 causing Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)

  Sheyanth, I. N., Sommerlund, M., Vinter, H., Assenholt, J., Gjørup, H., Sunde, L. & Lundsgaard, M., 8 Jan 2024, In: European Journal of Human Genetics. 32, Suppl. 1, p. 290 1 p., EP17.017.

  Research output: Contribution to journal › Conference abstract in journal › Research › peer-review

• PP1 criteria pitfall assessing autosomal dominant TECTA-variant in non-syndromic hearing loss

  Bolund, A., Blauenfeldt, T. & Højland, A. T., 8 Jan 2024, In: European Journal of Human Genetics. 32, Suppl. 1, p. 115 1 p., EP03.008.

  Research output: Contribution to journal › Conference abstract in journal › Research › peer-review
• 2023

  Androgenetic/biparental mosaicism in a diploid mole-like conceptus: report of a case with triple paternal contribution

  Donzel, M., Gaillot-Durand, L., Joubert, M., Aziza, J., Beneteau, C., Mauduit, C., Ploteau, S., Hajri, T., Bolze, P-A., Massardier, J., Devouassoux-Shisheboran, M., Sunde, L. & Allias, F., Nov 2023, In: Virchows Archiv. 483, 5, p. 709-715 7 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Genetics 100%
  • Genotyping 50%
  • Stromal Cell 50%
  • Immunostaining 50%
  • Ploidy 50%
  2 Citations (Scopus)

• Autosomal dominant cutis laxa and critical stenosis of the left main coronary artery in a 21-year-old female with an intronic mutation in the elastin gene

  Krarup, N. T., Hvidbjerg, M., Zaremba, T., Sommerlund, M. & Christensen, M. K., Apr 2023, In: American Journal of Medical Genetics. Part A. 191, 4, p. 1059-1064 6 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Isoprenaline 100%
  • Elastin 100%
  • Stenosis 100%
  • Autosomal Dominant Inheritance 100%
  • Left Coronary Artery 100%
  1 Citation (Scopus)

• Chung-Jansen Syndrome – a new overweight and developmental delay syndrome caused by haploinsufficiency of PHIP – a case report

  Sørensen, A., Bjerregaard, L. L. & Frederiksen, A. L., Jun 2023.

  Research output: Contribution to conference without publisher/journal › Poster › Research › peer-review

• Diagnosis of hydatidiform moles using circulating gestational trophoblasts isolated from maternal blood

  Ravn, K., Hatt, L., Singh, R., Schelde, P., Hansen, E. S., Vogel, I., Uldbjerg, N., Niemann, I. & Sunde, L., Apr 2023, In: Placenta. 135, p. 7-15 9 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Diagnosis 100%
  • Molar Pregnancy 100%
  • Trophoblast 100%
  • DNA 33%
  • Conceptus 30%

• Dominantly inherited micro-satellite instable cancer - the four Lynch syndromes - an EHTG, PLSD position statement

  Møller, P., Seppälä, T. T., Ahadova, A., Crosbie, E. J., Holinski-Feder, E., Scott, R., Haupt, S., Möslein, G., Winship, I., Broeke, S. W. B-T., Kohut, K. E., Ryan, N., Bauerfeind, P., Thomas, L. E., Evans, D. G., Aretz, S., Sijmons, R. H., Half, E., Heinimann, K., Horisberger, K., & 30 othersMonahan, K., Engel, C., Cavestro, G. M., Fruscio, R., Abu-Freha, N., Zohar, L., Laghi, L., Bertario, L., Bonanni, B., Tibiletti, M. G., Lino-Silva, L. S., Vaccaro, C., Valle, A. D., Rossi, B. M., da Silva, L. A., de Oliveira Nascimento, I. L., Rossi, N. T., Dębniak, T., Mecklin, J-P., Bernstein, I., Lindblom, A., Sunde, L., Nakken, S., Heuveline, V., Burn, J., Hovig, E., Kloor, M., Sampson, J. R., Dominguez-Valentin, M. & Prospective Lynch Syndrome Database (www.plsd.eu) and The European Hereditary Tumour Group (www.ehtg.org), 11 Oct 2023, In: Hereditary Cancer in Clinical Practice. 21, 1, 19.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  File

  • Hereditary Nonpolyposis Colorectal Cancer 100%
  • Malignant Neoplasm 100%
  • Microsatellite DNA 100%
  • Gene Repair 40%
  • Gene 40%
  3 Citations (Scopus)

  7 Downloads (Pure)

• Feasibility and early clinical impact of precision medicine for late-stage cancer patients in a regional public academic hospital

  Ladekarl, M., Nøhr, A. K., Sønderkær, M., Dahl, S. C., Sunde, L., Vestereghem, C., Mapendano, C. K., Haslund, C. A., Pagh, A., Carus, A., Lörincz, T., Nowicka-Matus, K., Poulsen, L. Ø., Laursen, R. J., Dybkær, K., Poulsen, B. K., Frøkjær, J. B., Brügmann, A. H., Ernst, A., Wanders, A., & 2 othersBøgsted, M. & Pedersen, I. S., Mar 2023, In: Acta Oncologica. 62, 3, p. 261-271 11 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Personalized Medicine 100%
  • Cancer Staging 100%
  • Hospital 100%
  • Patient 100%
  • Targeted Therapy 40%
  38 Downloads (Pure)

• Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort

  Stoltze, U. K., Hildonen, M., Hansen, T. V. O., Foss-Skiftesvik, J., Byrjalsen, A., Lundsgaard, M., Pignata, L., Grønskov, K., Tumer, A. Z., Schmiegelow, K., Brok, J. S. & Wadt, K. A. W., Sept 2023, In: Journal of Medical Genetics. 60, 9, p. 842-849 8 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Germline 100%
  • Wilms' Tumor 100%
  • Genetics 100%
  • Gene 27%
  • WT1 18%
  2 Citations (Scopus)

  10 Downloads (Pure)

• How doctors build community and socialize into a clinical department through morning reports. A positioning theory study

  Møller, J. E., Skipper, M., Sunde, L., Sørensen, A., Balslev, T., Andreassen, P. & Malling, B., 9 May 2023, In: PLOS ONE. 18, 5, e0284999.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Communities 100%
  • Theory 100%
  • Positioning Theory 100%
  • Training 50%
  • Observation 33%
  1 Citation (Scopus)

  17 Downloads (Pure)

• Klinisk anvendelse af polygene risikoscorer

  Translated title of the contribution: The clinical use of polygenic risk scoresTerkelsen, T., Hansen, T. F., Herlin, M. K., Djursby, M., Nyegaard, M., Pedersen, I. S., Lildballe, D. L., Færgeman, S. L., Sunde, L. & Hauberg, M. E., 25 Sept 2023, In: Ugeskrift for Læger. 185, V04230258.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Diseases 100%
  • Diagnosis 100%
  • Primary Prevention 100%
  • Secondary Prevention 100%
  • Heritability 100%
  6 Downloads (Pure)

• Metabolic Reprogramming of Bone-Marrow Mesenchymal Stem Cells Leads to Impaired Bone Formation in Patients with Inherited Mitochondrial Dysfunction

  Fernandez-Guerra, P., Sayed, A., Kjær, P., Nielsen, T. K., Ditzel, N., Terp, S. K., Ejersted, C., Thomsen, J. S., Vissing, J., Andersen, P. H., Søe, K., Andersen, T. L., Kassem, M., Frost, M. & Frederiksen, A. L., 8 Feb 2023, In: Journal of Bone and Mineral Research. 38, Suppl. 1, p. 60-61 2 p., FRI-231.

  Research output: Contribution to journal › Conference abstract in journal › Research › peer-review

• Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database

  Dominguez-Valentin, M., Haupt, S., Seppälä, T. T., Sampson, J. R., Sunde, L., Bernstein, I., Jenkins, M. A., Engel, C., Aretz, S., Nielsen, M., Capella, G., Balaguer, F., Evans, D. G., Burn, J., Holinski-Feder, E., Bertario, L., Bonanni, B., Lindblom, A., Levi, Z., Macrae, F., & 96 othersWinship, I., Plazzer, J-P., Sijmons, R., Laghi, L., Della Valle, A., Heinimann, K., Dębniak, T., Fruscio, R., Lopez-Koestner, F., Alvarez-Valenzuela, K., Katz, L. H., Laish, I., Vainer, E., Vaccaro, C., Carraro, D. M., Monahan, K., Half, E., Stakelum, A., Winter, D., Kennelly, R., Gluck, N., Sheth, H., Abu-Freha, N., Greenblatt, M., Rossi, B. M., Bohorquez, M., Cavestro, G. M., Lino-Silva, L. S., Horisberger, K., Tibiletti, M. G., Nascimento, I. D., Thomas, H., Rossi, N. T., Apolinário da Silva, L., Zaránd, A., Ruiz-Bañobre, J., Heuveline, V., Mecklin, J-P., Pylvänäinen, K., Renkonen-Sinisalo, L., Lepistö, A., Peltomäki, P., Therkildsen, C., Madsen, M. G., Burgdorf, S. K., Hopper, J. L., Win, A. K., Haile, R. W., Lindor, N., Gallinger, S., Le Marchand, L., Newcomb, P. A., Figueiredo, J., Buchanan, D. D., Thibodeau, S. N., von Knebel Doeberitz, M., Loeffler, M., Rahner, N., Schröck, E., Steinke-Lange, V., Schmiegel, W., Vangala, D., Perne, C., Hüneburg, R., Redler, S., Büttner, R., Weitz, J., Pineda, M., Duenas, N., Vidal, J. B., Moreira, L., Sánchez, A., Hovig, E., Nakken, S., Green, K., Lalloo, F., Hill, J., Crosbie, E., Mints, M., Goldberg, Y., Tjandra, D., Ten Broeke, S. W., Kariv, R., Rosner, G., Advani, S. H., Thomas, L., Shah, P., Shah, M., Neffa, F., Esperon, P., Pavicic, W., Torrezan, G. T., Bassaneze, T., Martin, C. A., Moslein, G. & Moller, P., Apr 2023, In: EClinicalMedicine. 58, 101909.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Mortality 100%
  • DNA Mismatch Repair 100%
  • Gene Repair 100%
  • Hereditary Nonpolyposis Colorectal Cancer 100%
  • Age 100%
  15 Citations (Scopus)

  25 Downloads (Pure)

• National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark

  Lildballe, D. L., Frederiksen, A. L., Schönewolf-Greulich, B., Andersen, C. B., 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., Dec 2023, In: European Journal of Medical Genetics. 66, 12, 104872.

  Research output: Contribution to journal › Journal article › Communication

  • Counseling 100%
  • Clinical Genetics 100%
  • Genetics 100%
  • Follow up 50%
  • Patient Care 50%

• Partial 3q tetrasomy: Defining the syndrome, neocentromeres, and an additional case report

  Hauberg, M., Lester, E., Larsen, M., Fagerberg, C. & Jønch, A., May 2023, In: European Journal of Human Genetics. 31, 5, p. 231-232 2 p., EP12.047.

  Research output: Contribution to journal › Conference abstract in journal › Research › peer-review

• Practical guidelines of the EOTTD for pathological and genetic diagnosis of hydatidiform moles

  Bartosch, C., Nadal, A., Braga, A. C., Salerno, A., Rougemont, A-L., Van Rompuy, A-S., Fitzgerald, B., Joyce, C., Allias, F., Maher, G. J., Turowski, G., Tille, J-C., Alsibai, K. D., Van de Vijver, K., McMahon, L., Sunde, L., Pyzlak, M., Downey, P., Wessman, S., Patrier, S., & 2 othersKaur, B. & Fisher, R., 19 Oct 2023, (E-pub ahead of print) In: Virchows Archiv.

  Research output: Contribution to journal › Review article › peer-review

  • Diagnosis 100%
  • Molar Pregnancy 100%
  • Gestational Trophoblastic Disease 50%
  • Experience 50%
  • Diseases 25%
  3 Citations (Scopus)

• Preimplantation genetic testing in two Danish couples affected by Peutz-Jeghers syndrome

  Byrjalsen, A., Roos, L., Diemer, T., Karstensen, J. G., Løssl, K. & Jelsig, A. M., Mar 2023, In: Scandinavian Journal of Gastroenterology. 58, 3, p. 314-318 5 p.

  Research output: Contribution to journal › Journal article › Communication

  • Peutz Jeghers Syndrome 100%
  • Preimplantation 100%
  • Patient 70%
  • Monogenic Disorder 40%
  • Microsatellite DNA 33%
  3 Citations (Scopus)

• Prolonged gastrointestinal transit times in mitochondrial disease – a case control study

  Nielsen, S. R., Wegeberg, A-M. L., Liao, D., Drewes, A. M., Pedersen, I. S., Frederiksen, A. L. & Brock, C., Jun 2023.

  Research output: Contribution to conference without publisher/journal › Poster › Research › peer-review

• Sporadic late onset nemaline myopathy with concurrent dermatological symptoms responding to immunosuppressive treatment

  Nandy, A., Tankisi, H., Krøigård, A. B., Dalager, M. G., Hvidbjerg, M. S., Schrøder, H. D. & Obál, I., 16 Jun 2023, In: BMC Neurology. 23, 1, 8 p., 233.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Immunosuppressive Treatment 100%
  • Muscle Biopsy 33%
  • Skin 33%
  • Mitochondrion 16%
  • Adulthood 16%
  1 Citation (Scopus)

  21 Downloads (Pure)

• Survival, surveillance, and genetics in patients with Peutz-Jeghers syndrome: A nationwide study

  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., Jul 2023, In: Clinical Genetics. 104, 1, p. 81-89 9 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Peutz Jeghers Syndrome 100%
  • Inpatient 100%
  • Genetics 100%
  • Malignant Neoplasm 66%
  • Patient 66%
  6 Citations (Scopus)

  23 Downloads (Pure)

• When to consult a geneticist specialising in gestational trophoblastic disease

  McMahon, L., Maher, G. J., Joyce, C., Niemann, I., Fisher, R. & Sunde, L., 26 May 2023, (E-pub ahead of print) In: Gynecologic and Obstetric Investigation. 16 p.

  Research output: Contribution to journal › Review article › peer-review

  • Gestational Trophoblastic Disease 100%
  • Genotyping 100%
  • Microsatellite DNA 75%
  • Diagnosis 60%
  • Immunostaining 50%

• Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study

  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., Oct 2023, In: Familial Cancer. 22, 4, p. 429-436 8 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Genome Sequencing 100%
  • Germline 66%
  • Spectrum 66%
  • Genetics 66%
  2 Citations (Scopus)

  8 Downloads (Pure)
• 2022

  A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis

  Højland, A. T., Tavernier, L. J. M., Schrauwen, I., Sommen, M., Topsakal, V., Schatteman, I., Dhooge, I., Huber, A., Zanetti, D., Kunst, H. P. M., Hoischen, A., Petersen, M. B., Van Camp, G. & Fransen, E., Apr 2022, In: Human Genetics. 141, 3-4, p. 951–963 13 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Aggrecan 100%
  • Otosclerosis 100%
  • Spectrum 33%
  • Gene 33%
  • Hearing Loss 20%
  4 Citations (Scopus)

  7 Downloads (Pure)

• Biochemical and clinical manifestations in adults with hypophosphatasia: a national cross-sectional study

  Hepp, N., Frederiksen, A. L., Duno, M., Jørgensen, N. R. & Jensen, J-E. B., Dec 2022, In: Osteoporosis International. 33, 12, p. 2595-2605 11 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Bone 100%
  • Cross Sectional Study 100%
  • Hypophosphatasia 100%
  • Adult 100%
  • Energy 60%
  3 Citations (Scopus)

• Bone Deformities and Kidney Failure: Coincidence of PHEX-Related Hypophosphatemic Rickets and m.3243A>G Mitochondrial Disease

  Nielsen, S. R., Hansen, S. G., Bistrup, C., Brusgaard, K. & Frederiksen, A. L., Dec 2022, In: Calcified Tissue International. 111, 6, p. 641-645 5 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Proteinase 100%
  • Renal Failure 100%
  • Phosphate 100%
  • Disorders of Mitochondrial Functions 100%
  • Bone Malformation 100%
  8 Downloads (Pure)

• Bone-microarchitecture and bone-strength in a sample of adults with hypophosphatasia and a matched reference population assessed by HR-pQCT and impact microindentation

  Hepp, N., Folkestad, L., Møllebæk, S., Frederiksen, A. L., Duno, M., Jørgensen, N. R., Hermann, A. P. & Jensen, J-E. B., Jul 2022, In: Bone. 160, 116420.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Bone 100%
  • Bone Strength 100%
  • Hypophosphatasia 100%
  • Adult 100%
  • Bone Quality 33%
  3 Citations (Scopus)

  34 Downloads (Pure)

• Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

  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., Belotti, M., & 145 othersBenitez, J., Berthet, P., Boonen, S. E., Borg, Å., Bozsik, A., Brady, A. F., Brennan, P., Brewer, C., Brunet, J., Bucalo, A., Buys, S. S., Caldés, T., Caligo, M. A., Campbell, I., Cassingham, H., Christensen, L. L., Cini, G., Claes, K. B. M., Cook, J., Coppa, A., Cortesi, L., Damante, G., Darder, E., Davidson, R., de la Hoya, M., De Leeneer, K., de Putter, R., Del Valle, J., Diez, O., Ding, Y. C., Domchek, S. M., Donaldson, A., Eason, J., Eeles, R., Engel, C., Evans, D. G., Feliubadaló, L., Fostira, F., Frone, M., Frost, D., Gallagher, D., Gehrig, A., Giraud, S., Glendon, G., Godwin, A. K., Goldgar, D. E., Greene, M. H., Gregory, H., Gross, E., Hahnen, E., Hamann, U., Hansen, T. V. O., Hanson, H., Hentschel, J., Horvath, J., Izatt, L., Izquierdo, A., James, P. A., Janavicius, R., Jensen, U. B., Johannsson, O. T., John, E. M., Kramer, G., Kroeldrup, L., Kruse, T. A., Lautrup, C., Lazaro, C., Lesueur, F., Lopez-Fernández, A., Mai, P. L., Manoukian, S., Matrai, Z., Matricardi, L., Maxwell, K. N., Mebirouk, N., Meindl, A., Montagna, M., Monteiro, A. N., Morrison, P. J., Muranen, T. A., Murray, A., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Nguyen-Dumont, T., Niederacher, D., Olah, E., Olopade, O. I., Palli, D., Parsons, M. T., Pedersen, I. S., Peissel, B., Perez-Segura, P., Peterlongo, P., Petersen, A. H., Pinto, P., Porteous, M. E., Pottinger, C., Pujana, M. A., Radice, P., Ramser, J., Rantala, J., Robson, M., Rogers, M. T., Rønlund, K., Rump, A., Sánchez de Abajo, A. M., Shah, P. D., Sharif, S., Side, L. E., Singer, C. F., Stadler, Z., Steele, L., Stoppa-Lyonnet, D., Sutter, C., Tan, Y. Y., Teixeira, M. R., Teulé, A., Thull, D. L., Tischkowitz, M., Toland, A. E., Tommasi, S., Toss, A., Trainer, A. H., Tripathi, V., Valentini, V., van Asperen, C. J., Venturelli, M., Viel, A., Vijai, J., Walker, L., Wang-Gohrke, S., Wappenschmidt, B., Whaite, A., Zanna, I., Offit, K., Thomassen, M., Couch, F. J., Schmutzler, R. K., Simard, J., Easton, D. F., Chenevix-Trench, G., Antoniou, A. C., Ottini, L. & GEMO Study Collaborators, 11 Jan 2022, In: Journal of the National Cancer Institute. 114, 1, p. 109-122 14 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Single-Nucleotide Polymorphism 100%
  • Estrogen Receptor 100%
  • Single Nucleotide Polymorphism 49%
  16 Citations (Scopus)

  67 Downloads (Pure)

• Clinical implications of genetic testing in familial intermediate and late-onset colorectal cancer

  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., Dec 2022, In: Human Genetics. 141, 12, p. 1925-1933 9 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • MUTYH 100%
  • Gene 100%
  • Germline 33%
  • Genetic Predisposition 33%
  • Gene Repair 33%

• Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

  Møller, P., Seppälä, T., Dowty, J. G., Haupt, S., Dominguez-Valentin, M., Sunde, L., Bernstein, I., Engel, C., Aretz, S., Nielsen, M., Capella, G., Evans, D. G., Burn, J., Holinski-Feder, E., Bertario, L., Bonanni, B., Lindblom, A., Levi, Z., Macrae, F., Winship, I., & 138 othersPlazzer, J-P., Sijmons, R., Laghi, L., Valle, A. D., Heinimann, K., Half, E., Lopez-Koestner, F., Alvarez-Valenzuela, K., Scott, R. J., Katz, L., Laish, I., Vainer, E., Vaccaro, C. A., Carraro, D. M., Gluck, N., Abu-Freha, N., Stakelum, A., Kennelly, R., Winter, D., Rossi, B. M., Greenblatt, M., Bohorquez, M., Sheth, H., Tibiletti, M. G., Lino-Silva, L. S., Horisberger, K., Portenkirchner, C., Nascimento, I., Rossi, N. T., da Silva, L. A., Thomas, H., Zaránd, A., Mecklin, J-P., Pylvänäinen, K., Renkonen-Sinisalo, L., Lepisto, A., Peltomäki, P., Therkildsen, C., Lindberg, L. J., Thorlacius-Ussing, O., von Knebel Doeberitz, M., Loeffler, M., Rahner, N., Steinke-Lange, V., Schmiegel, W., Vangala, D., Perne, C., Hüneburg, R., de Vargas, A. F., Latchford, A., Gerdes, A-M., Backman, A-S., Guillén-Ponce, C., Snyder, C., Lautrup, C. K., Amor, D., Palmero, E., Stoffel, E., Duijkers, F., Hall, M. J., Hampel, H., Williams, H., Okkels, H., Lubiński, J., Reece, J., Ngeow, J., Guillem, J. G., Arnold, J., Wadt, K., Monahan, K., Senter, L., Rasmussen, L. J., van Hest, L. P., Ricciardiello, L., Kohonen-Corish, M. R. J., Ligtenberg, M. J. L., Southey, M., Aronson, M., Zahary, M. N., Samadder, N. J., Poplawski, N., Hoogerbrugge, N., Morrison, P. J., James, P., Lee, G., Chen-Shtoyerman, R., Ankathil, R., Pai, R., Ward, R., Parry, S., Dębniak, T., John, T., van Overeem Hansen, T., Caldés, T., Yamaguchi, T., Barca-Tierno, V., Garre, P., Cavestro, G. M., Weitz, J., Redler, S., Büttner, R., Heuveline, V., Hopper, J. L., Win, A. K., Lindor, N., Gallinger, S., Le Marchand, L., Newcomb, P. A., Figueiredo, J., Buchanan, D. D., Thibodeau, S. N., Ten Broeke, S. W., Hovig, E., Nakken, S., Pineda, M., Dueñas, N., Brunet, J., Green, K., Lalloo, F., Newton, K., Crosbie, E. J., Mints, M., Tjandra, D., Neffa, F., Esperon, P., Kariv, R., Rosner, G., Pavicic, W. H., Kalfayan, P., Torrezan, G. T., Bassaneze, T., Martin, C., Moslein, G., Ahadova, A., Kloor, M., Sampson, J. R., Jenkins, M. A. & European Hereditary Tumour Group (EHTG) and the International Mismatch Repair Consortium (IMRC), 1 Oct 2022, In: Hereditary Cancer in Clinical Practice. 20, 1, 36.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Colorectal Cancer 100%
  • MLH1 28%
  • PMS2 28%
  • Gene Repair 28%
  • Proband 14%
  19 Citations (Scopus)

  34 Downloads (Pure)

• COMPREHENSIVE GERMLINE GENOMICS OF PATIENTS WITH WILMS TUMOR REVEALS A HIGH LEVEL OF PREDISPOSITION IN FEMALES

  Stoltze, U., Hildonen, M., Brok, J., Hansen, T., Lundsgaard, M., Grønskov, K., Tumer, Z., Schmiegelow, K. & Wadt, K., Nov 2022, In: Pediatric Blood & Cancer. 69, Suppl. 5, p. S67 O142 / #1892.

  Research output: Contribution to journal › Conference abstract in journal › Research › peer-review

• Contiguous gene deletion of MSH6 and FBXO11. Presenting a large family with Lynch syndrome and FBX011-related intellectual developmental disorder

  Lundsgaard, M., Jensen, U. B., Ernst, A., Okkels, H., Christensen, R., Balslev, T., Sunde, L. & Lautrup, C. K., 7 Apr 2022, In: European Journal of Human Genetics. 30, Suppl. 1, p. 237 1 p.

  Research output: Contribution to journal › Conference abstract in journal › Research › peer-review

• Distinct gastric phenotype in patients with pathogenic variants in SMAD4: A nationwide cross-sectional study

  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., Dec 2022, In: Endoscopy International Open. 10, 12, p. E1537-E1543 7 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Patient 100%
  • Inpatient 100%
  • Cross Sectional Study 100%
  • Germline 50%
  • Genetics 50%
  18 Downloads (Pure)

• Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease

  Zheng, W-Q., Pedersen, S. V., Thompson, K., Bellacchio, E., French, C. E., Munro, B., Pearson, T. S., Vogt, J., Diodato, D., Diemer, T., Ernst, A., Horvath, R., Chitre, M., Ek, J., Wibrand, F., Grange, D. K., Raymond, L., Zhou, X-L., Taylor, R. W. & Ostergaard, E., 15 Feb 2022, In: Human Molecular Genetics. 31, 4, p. 523-534 12 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Homology Modeling 100%
  • Transfer RNA 100%
  • Enzyme 100%
  • Missense 100%
  11 Citations (Scopus)

• Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes?

  Jensen, J. M., Skakkebæk, A., Gaustadness, M., Sommerlund, M., Gjørup, H., Ljungmann, K., Lautrup, C. K. & Sunde, L., Jul 2022, In: Familial Cancer. 21, 3, p. 325-332 8 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Cancer Susceptibility 100%
  • Hereditary Colorectal Cancer 100%
  • Hypodontia 100%
  • Family 100%
  • Syndrome 100%
  8 Citations (Scopus)

• Familial Multiple Lipomatosis - analyses of genetic etiology by whole genome sequencing and delineation of the clinical phenotype

  Bjerrelund, J., Larsen, M. J., Schrøder, H. D., Frost, M., Kassem, M., Ousager, L. B. & Frederiksen, A. L., 7 Apr 2022, In: European Journal of Human Genetics. 30, Suppl. 1, p. 205 1 p.

  Research output: Contribution to journal › Conference abstract in journal › Research › peer-review

• Frequency of aneuploidy in diploid androgenetic hydatidiform moles

  Kristensen, P. W., Andreassen, L., Geilswijk, M., Poulsen, T., Niemann, I. & Sunde, L., 7 Apr 2022, In: European Journal of Human Genetics. 30, Suppl. 1, p. 446 1 p.

  Research output: Contribution to journal › Conference abstract in journal › Research › peer-review

• Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy

  Ahring, P. K., Liao, V. W. Y., Gardella, E., Johannesen, K. M., Krey, I., Selmer, K. K., Stadheim, B. F., Davis, H., Peinhardt, C., Koko, M., Coorg, R. K., Syrbe, S., Bertsche, A., Santiago-Sim, T., Diemer, T., Fenger, C. D., Platzer, K., Eichler, E. E., Lerche, H., Lemke, J. R., & 2 othersChebib, M. & Møller, R. S., Apr 2022, In: Brain. 145, 4, p. 1299–1309 11 p., awab391.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  • Diseases 100%
  • Epilepsy 100%
  • Patient 75%
  • Generalised Epilepsy 60%
  • Phenotype 50%
  27 Citations (Scopus)

• Genetisk udredning ved autismespektrumforstyrrelse

  Translated title of the contribution: Genetic testing in autism spectrum disorderJensen, J. M., Nielsen, U. S., Bayat, A., Rasmussen, M. B., Møller, R. S., Bisgaard, A. M. & Hammer, T. B., 22 Aug 2022, In: Ugeskrift for laeger. 184, V04220253.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Pervasive Developmental Disorder 100%
  • Spectrum 100%
  • Etiology 25%
  • Person 25%
  • Genetics 25%
  8 Downloads (Pure)

• Homozygous missense variant of PTH (c.166C>T, p.(Arg56Cys)) as the cause of familial isolated hypoparathyroidism in a three-year-old child

  Andersen, S. L., Frederiksen, A. L., Rasmussen, A. B., Madsen, M. & Rønholt Christensen, A-M., 9 May 2022, In: Journal of Pediatric Endocrinology and Metabolism. 35, 5, p. 691-694 4 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Parathyroid Hormone 100%
  • Hypoparathyroidism 100%
  • Child 100%
  • Missense 100%
  • Genetics 30%
  2 Citations (Scopus)

• Patients’ choices and opinions on chorionic villous sampling and non-invasive alternatives for prenatal testing following preimplantation genetic testing for hereditary disorders: A cross-sectional questionnaire study

  Frisk Toft, C. L., Diemer, T., Ingerslev, H. J., Pedersen, I. S., Adrian, S. W. & Kesmodel, U. S., Feb 2022, In: Prenatal Diagnosis. 42, 2, p. 212-225 14 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Genetic Disorder 100%
  • Patient 100%
  • Preimplantation 100%
  • Woman 25%
  • Counseling 12%
  5 Citations (Scopus)

  81 Downloads (Pure)

• Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants

  Li, H., Engel, C., de la Hoya, M., Peterlongo, P., Yannoukakos, D., Livraghi, L., Radice, P., Thomassen, M., Hansen, T. V. O., Gerdes, A-M., Nielsen, H. R., Caputo, S. M., Zambelli, A., Borg, A., Solano, A., Thomas, A., Parsons, M. T., Antoniou, A. C., Leslie, G., Yang, X., & 43 othersChenevix-Trench, G., Caldes, T., Kwong, A., Pedersen, I. S., Lautrup, C. K., John, E. M., Terry, M. B., Hopper, J. L., Southey, M. C., Andrulis, I. L., Tischkowitz, M., Janavicius, R., Boonen, S. E., Kroeldrup, L., Varesco, L., Hamann, U., Vega, A., Palmero, E. I., Garber, J., Montagna, M., Van Asperen, C. J., Foretova, L., Greene, M. H., Selkirk, T., Moller, P., Toland, A. E., Domchek, S. M., James, P. A., Thorne, H., Eccles, D. M., Nielsen, S. M., Manoukian, S., Pasini, B., Caligo, M. A., Lazaro, C., Kirk, J., Wappenschmidt, B., Spurdle, A. B., Couch, F. J., Schmutzler, R., Goldgar, D. E., ENIGMA consortium & CIMBA Consortium, Jan 2022, In: Genetics in Medicine. 24, 1, p. 119-129 11 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  • Protein 100%
  • Missense 100%
  • Germline 12%
  • BRCA1 Protein 12%
  • Gene 12%
  11 Citations (Scopus)

• Skift fra 2. til 3. generationsmetode til bestemmelse af PTH blev diagnostisk vejledende for fastlæggelse af genetisk årsag til primær hypoparathyroidisme

  Andersen, S. L., Frederiksen, A. L., Rasmussen, A. B., Madsen, M. & Rønholt Christensen, A-M., 2022.

  Research output: Contribution to conference without publisher/journal › Conference abstract for conference › Research › peer-review

• Sporadic late onset nemaline myopathy (SLONM) with dermatological manifestation a challenge for diagnosis and treatment

  Nandy, A., Tankisi, H., Dalager, M. G., Hvidbjerg, M. S., Schrøder, H. D. & Obál, I., Jun 2022.

  Research output: Contribution to conference without publisher/journal › Poster › Research › peer-review

• Telomersygdomme

  Translated title of the contribution: Telomere biology disordersByrjalsen, A., Bygum, A., Lautrup, C. K., Frederiksen, A. L., Fialla, A. D., Raaschou-Jensen, K., Bendstrup, E., Madsen, T. N., Klarskov, M. & Jelsig, A. M., 11 Jul 2022, In: Ugeskrift for Læger. 184, V03220220.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Diseases 100%
  • Epilepsy 100%
  • Telomere 100%
  • Therapeutic Procedure 100%
  • Drug Therapy 50%
  9 Downloads (Pure)