Research and Knowledge Center in Sensory Genetics (Sansegenetisk Forsknings- og Videnscenter)
Research and Knowledge Center in Sensory Genetics
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Head of Department
Irene Kibæk Nielsen
![Lone Sunde]()
MD, PhD, Consultant, Clinical Professor
Lone Sunde
![Anja Lisbeth Frederiksen]()
MD, PhD, Consultant, Clinical Professor
Anja Lisbeth Frederiksen
![Tue Diemer]()
MD, Consultant, Clinical Instructor
Tue Diemer
![Allan Thomas Højland]()
MD. PhD, Clinical Associate Professor
Allan Thomas Højland
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The Center collaborates with Department of Molecular Diagnostics, Department of Otorhinolaryngology, Head and Neck Surgery and Department of Ophthalmology Aalborg University Hospital and Aalborg University.
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The Centre has received support from Fonden til Lægevidenskabens Fremme, Det Obelske Familiefond, Region Nordjyllands Sundhedsvidenskabelige Forskningsfond, and Aase og Ejnar Danielsens Fond.
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Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.
Zheng WQ, Pedersen SV, Thompson K, Bellacchio E, French CE, Munro B, Pearson TS, Vogt J, Diodato D, Diemer T, Ernst A, Horvath R, Chitre M, Ek J, Wibrand F, Grange DK, Raymond L, Zhou XL, Taylor RW, Ostergaard E.Hum Mol Genet. 2022 Feb 21;31(4):523-534. doi: 10.1093/hmg/ddab257.A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis.
Højland AT, Tavernier LJM, Schrauwen I, Sommen M, Topsakal V, Schatteman I, Dhooge I, Huber A, Zanetti D, Kunst HPM, Hoischen A, Petersen MB, Van Camp G, Fransen E. Hum Genet. 2022 Apr;141(3-4):951-963. doi: 10.1007/s00439-021-02334-8. Epub 2021 Aug 19.PMID: 34410490First reported CABP2-related non-syndromic hearing loss in Northern Europe.
Sheyanth IN, Højland AT, Okkels H, Lolas I, Thorup C, Petersen MB. Mol Genet Genomic Med. 2021 Apr;9(4):e1639. doi: 10.1002/mgg3.1639. Epub 2021 Mar 5.PMID: 33666369Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome.
Karstensen HG, Rendtorff ND, Hindbæk LS, Colombo R, Stein A, Birkebæk NH, Hartmann-Petersen R, Lindorff-Larsen K, Højland AT, Petersen MB, Tranebjærg L.Eur J Med Genet. 2020 Mar;63(3):103733. doi: 10.1016/j.ejmg.2019.103733. Epub 2019 Aug 23.PMID: 31449985Audiological and Vestibular Findings in Subjects with MELAS Syndrome.
Hougaard DD, Hestoy DH, Hojland AT, Gailhede M, Petersen MB. J Int Adv Otol. 2019 Aug;15(2):296-303. doi: 10.5152/iao.2019.5913.PMID: 31347509First reported adult patient with TARP syndrome: A case report.
Højland AT, Lolas I, Okkels H, Lautrup CK, Diness BR, Petersen MB, Nielsen IK. Am J Med Genet A. 2018 Dec;176(12):2915-2918. doi: 10.1002/ajmg.a.40638. Epub 2018 Nov 21.PMID: 30462380 -
PP1 criteria pitfall assessing autosomal dominant TECTA-variant in non-syndromic hearing loss
Bolund ACS, Blauenfeldt T, Højland AT. Poster præsenteret på European Human Genetics Conference 2023, Glasgow, Storbritannien.The spectrum of gene mutations in childhood deafness in Denmark
Højland AT, Okkels H, Søndergaard C, Owen HH, Thorup C, Lolas IBY, Hougaard DD, Gaihede M, Petersen MB. Poster præsenteret på European Human Genetics Conference 2019, Göteborg, Sverige.First reported Northern European with CABP2-related non-syndromic hearing loss
Højland AT, Okkels H, Petersen MB. Poster præsenteret på European Human Genetics Conference 2019, Göteborg, Sverige.TARP syndrome – first reported adult patient
Højland AT, Lolas I, Lautrup CK, Okkels H, Petersen MB, Nielsen IK. Poster præsenteret på European Human Genetics Conference 2018, Milano, Italien.Expanding the phenotype in TARP syndrome
Højland AT, Lolas I, Lautrup CK, Okkels H, Petersen MB, Nielsen IK. Poster præsenteret på Human and Mammalian Genetics and Genomics: The 58th McKusick Short Course. Bar Harbour, Maine, USA -
Arvelige Øjensygdomme
Diemer T. I: Sunde L, Østergaard E (Eds.), Medicinsk Genetik (3. udg., s.251-255). FADL’s Forlag 2022.Arvelig Hørenedsættelse
Højland AT. I: Sunde L, Østergaard E (Eds.), Medicinsk Genetik (3. udg., s.256-261). FADL’s Forlag 2022.
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