Department of Clinical Genetics

Research output

Research output per year 2007 2013 2019 2020 2021 2022 2023 2024 2025

• 110 Journal article
• 29 Conference abstract in journal
• 11 Poster
• 10 Review article
• 14 More
  • 5 Comment/debate
  • 4 Conference abstract for conference
  • 2 Book chapter
  • 1 Conference abstract in proceeding
  • 1 Letter
  • 1 PhD thesis

Research output per year

Research output per year

Search results

• 2024

  A previously unreported splice variant in FLNA causing periventricular nodular heterotopia 1 in a Danish family; explored by functional studies

  Steffensen, E. H., Blechingberg, J., Hansen, T. V. O., Bolund, A., Robertson, S. & Axél Gregersen, P., 6 Dec 2024, In: European Journal of Human Genetics. 32, Suppl. 2, p. 1475-1476 2 p., P11.034.B.

  Research output: Contribution to journal › Conference abstract in journal › Research

• Cardiovascular autonomic neuropathy in M.3243A>G mitochondrial disease

  Simone Rask, N., Anja Lisbeth, F., Inge Søkilde, P. & Christina, B., 12 Dec 2024, In: Journal of Mitochondria, Plastids and Endosymbiosis. 2, Suppl. 1, p. 64 1 p.

  Research output: Contribution to journal › Conference abstract in journal › Research

• Could a shared intronic variant hold the key? Unraveling retinopathy and motor dysfunction in two individuals with variants of unknown significance in the FDXR gene

  Jensen, J. M., Johnsen, H. L., kjaersgaard hansen, L., Gade, E., Larsen, M., Hey Bækgaard, C., Sørensen, K., Østergaard, E. & Fagerberg, C., 6 Dec 2024, In: European Journal of Human Genetics. 32, Suppl. 2, p. 1421-1422 2 p., P08.044.A.

  Research output: Contribution to journal › Conference abstract in journal › Research

• Gene panels and mode of inheritance – What not to do

  Madsen, C. P., Højland, A. T. & Blauenfeldt, T., 6 Dec 2024, In: European Journal of Human Genetics. 32, Suppl. 2, p. 1089 1 p., EP11.081.

  Research output: Contribution to journal › Conference abstract in journal › Research

• 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

• Is severe epilepsy part of the ANO5 phenotype?

  Vester, M. R., Jensen, J. M. & Sunde, L., 6 Dec 2024, In: European Journal of Human Genetics. 32, Suppl. 2, p. 1375 1 p., P06.030.C.

  Research output: Contribution to journal › Conference abstract in journal › Research

• M.10010T>C mitochondrial disease: a case report with hypocalcemia

  Jacob, M., Simone Rask, N., Morten, D., Anne Pernille, H., Anja Lisbeth, F. & Trine, M. J., 24 Dec 2024, In: Journal of Mitochondria, Plastids and Endosymbiosis. 2, Suppl. 1, p. 62-63 2 p.

  Research output: Contribution to journal › Conference abstract in journal › Research

• 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

• Unveiling the Rarity: A Case Report on Warsaw Breakage Syndrome

  Laursen, O. K. & Jensen, J. M., 6 Dec 2024, In: European Journal of Human Genetics. 32, Suppl. 2, p. 1117-1118 2 p., EP13.037.

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

  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

• 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
• 2022

  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

• 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
• 2020

  First reported case of Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese/Autosomal Dominant Drusen) in Scandinavia

  Sheyanth, I. N., Petersen, M. B., Kiruparajan, L. P. & Abildgaard, S. K. O., 1 Dec 2020, In: European Journal of Human Genetics. 28, Suppl. 1, p. 807-808 2 p.

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

• Nationwide Germline Whole Genome Sequencing of 198 Consecutive Pediatric Cancer Patients Reveals a High Incidence of Cancer Prone Syndromes

  Byrjalsen, A., Hansen, T., Stoltze, U., Mehrjouy, M., Barnkob, N., Hjalgrim, L., Mathiasen, R., Lautrup, C. K., Gregersen, P., Hasle, H., Wehner, P., Tuckuviene, R., Sackett, P., Laspiu, A., Rossing, M., Marvig, R., Tommerup, N., Olsen, T., Scheie, D. & Gupta, R. & 3 others, Gerdes, A.-M., Schmiegelow, K. & Wadt, K., 2020, In: Pediatric Blood & Cancer. 67, Suppl. 4, p. S323 1 p., 0719 / #1167.

  Research output: Contribution to journal › Conference abstract in journal › Research › peer-review
• 2019

  Early experiences with screening for aneuploidy in preimplantation genetic testing for inherited disorders

  Diemer, T., Toft, C. L. F., Hnida, C., Degn, B., Okkels, H., Ernst, A., Ingerslev, H. J. & Pedersen, I. S., 1 Oct 2019, In: European Journal of Human Genetics. 27, Suppl. 2, p. 1198-1199 2 p., P01.57A.

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

• First reported Northern European with CABP2-related non-syndromic hearing loss

  Hojland, A. T., Okkels, H. & Petersen, M. B., 2019, In: European Journal of Human Genetics. 27, Suppl. 2, p. 1225 1 p., P02.22D.

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

  Open Access
  14 Citations (Scopus)

• HARS2 sequence variants identified in young individuals with severe sensorineural hearing impairment

  Karstensen, H., Rendtorff, N., Hindhede, L., Stein, A., Hartmann-Petersen, R., Lindorff-Larsen, K., Hojland, A., Petersen, M. & Tranebjaerg, L., Jul 2019, In: European Journal of Human Genetics. 27, Suppl. 1, p. 50-51 2 p., P02.18A.

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

• Identification of a Novel Silent Exonic Point Mutation in the NF1 Gene Causing Partial Exon 9 Skipping

  Hoejland, A. T., Lolas, I., Diemer, T., Okkels, H. & Petersen, M. B., 1 Jul 2019, In: European Journal of Human Genetics. 27, Suppl. 1, p. 291-292 2 p.

  Research output: Contribution to journal › Conference abstract in journal › Research › peer-review
  13 Citations (Scopus)

• Partial trisomy 21 map: ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21

  Pelleri, M. C., Cicchini, E., Petersen, M. B., Tranebjaerg, L., Mattina, T., Magini, P., Antonaros, F., Caracausi, M., Vitale, L., Locatelli, C., Seri, M., Strippoli, P., Piovesan, A. & Cocchi, G., 1 Jul 2019, In: European Journal of Human Genetics. 27, Suppl. 1, p. 484-485 2 p., P13.15C.

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

• Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes

  Verloes, A., Haye, D., Toutain, A., Bonneau, D., Nielsen, I. K., Lund, I. B., Bogaard, P., Leenskjold, S., Karaer, K., Wild, K. T., Grand, K. L., Astiazaran, M. C., Gonzalez-Nieto, L. A., Carvalho, A., Lehalle, D., Amudhavalli, S. M., Repnikova, E., Saunders, C., Thiffault, I. & Thiffault, I. & 8 others, Saadi, I., Li, D., Hakonarson, H., Vial, Y., Zackai, E., Callier, P., Drunat, S. & Bhoj, E. E., Oct 2019, In: European Journal of Human Genetics. 27, Suppl. 2, p. 1517-1518 2 p.

  Research output: Contribution to journal › Conference abstract in journal › Research › peer-review
• 2018

  In silico functional analysis of genetic variants in chromosome 19 to identify disease-causing gene in a large Greek family with autosomal dominant macular dystrophy

  Cordero, J. B., Williams, R. W., Petersen, M. B., Kokotas, H., Grigoriadou, M., Kitsos, G., Mandal, N. A. & Simpson, C. L., 2018, In: Investigative Ophthalmology & Visual Science. 59, 9, 3141.

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

  Open Access

• Statistical approaches to the analysis of whole-genome sequencing in autosomal- dominant macular dystrophy

  Cordero, R. Y., Williams, R. W., Petersen, M. B., Kokotas, H., Grigoriadou, M., Kitsos, G., Mandal, N. A. & Simpson, C. L., 2018, In: Investigative Ophthalmology & Visual Science. 59, 9, 780.

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

  Open Access
• 2017

  Targeted next generation sequencing as a diagnostic tool in 644 childhood epilepsy patients and transmission of variants from mosaic parents

  Larsen, L. H. G., Hao, Q., Kako, N., Olofsson, K., Miranda, M., Kinali, M., Borggräfe, I., Svaneby, D., Nielsen, J. E. K., Lavard, L., Uldall, P., Talvik, T., Talvik, I., Fusco, C., Spagnoli, C., Frangu, M., Born, P. A., Striano, P., Pal, D. & Oates, S. & 15 others, Gellert, P., Nikanorova, M., Petersen, M. B., Lautrup, C. K., Brusgaard, K., Dunkhase-Hein, I. U., Rokkjær, M., Bayat, A., Petkov, Y., Børresen, M. L., Jepsen, B., Marjanovic, D., Hjalgrim, H., Dahl, A. & Møller, R. S., 2017, In: Epilepsia. 58, Suppl. 5, p. S176-S177 2 p., p0995.

  Research output: Contribution to journal › Conference abstract in journal › Research › peer-review
  2 Citations (Scopus)
• 2013

  Mother-to-offspring inheritance of MLH1 promotor hypermethylation

  Højland, A. T., Okkels, H., Madsen, P. H., Jensen, T. D. & Petersen, M. B., Jun 2013, In: European Journal of Human Genetics. 21, s2, p. 309

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

• Mutation analysis with Next Generation Sequencing performed to evaluate the cause of Centronuclear Myopathy in two foetuses of consanguineous parents from Sudan

  Dohrn, N., Petersen, A., Skovbo, P., Pedersen, I. S., Ernst, A., Krarup, H. & Petersen, M. B., 2013, In: APMIS - Journal of Pathology, Microbiology and Immunology. 121, Suppl 135, p. 24

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