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Page 1
Comparison of the ABC and ACMG systems for variant classification.
Houge G, Bratland E, Aukrust I, Tveten K, Žukauskaitė G, Sansovic I, Brea-Fernández AJ, Mayer K, Paakkola T, McKenna C, Wright W, Markovic MK, Lildballe DL, Konecny M, Smol T, Alhopuro P, Gouttenoire EA, Obeid K, Todorova A, Jankovic M, Lubieniecka JM, Stojiljkovic M, Buisine MP, Haukanes BI, Lorans M, Roomere H, Petit FM, Haanpää MK, Beneteau C, Pérez B, Plaseska-Karanfilska D, Rath M, Fuhrmann N, Ferreira BI, Stephanou C, Sjursen W, Maver A, Rouzier C, Chirita-Emandi A, Gonçalves J, Kuek WCD, Broly M, Haer-Wigman L, Thong MK, Tae SK, Hyblova M, den Dunnen JT, Laner A. Houge G, et al. Among authors: lildballe dl. Eur J Hum Genet. 2024 May 22. doi: 10.1038/s41431-024-01617-8. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38778080
National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark.
Lildballe DL, Frederiksen AL, Schönewolf-Greulich B, Brasch-Andersen C, Lautrup CK, Karstensen HG, Pedersen IS, Sunde L, Risom L, Rasmussen M, Bertelsen M, Andersen MK, Rendtorff ND, Gregersen PA, Tørring PM, Hammer-Hansen S, Boonen SE, Lindquist SG, Hammer TB, Diness BR. Lildballe DL, et al. Eur J Med Genet. 2023 Dec;66(12):104872. doi: 10.1016/j.ejmg.2023.104872. Epub 2023 Nov 13. Eur J Med Genet. 2023. PMID: 37967791
The clinical use of polygenic risk scores.
Terkelsen T, Hansen TF, Herlin MK, Djursby M, Nyegaard M, Pedersen IS, Lildballe DL, Færgeman SL, Sunde L, Hauberg ME. Terkelsen T, et al. Among authors: lildballe dl. Ugeskr Laeger. 2023 Sep 25;185(39):V04230258. Ugeskr Laeger. 2023. PMID: 37873989 Free article. Review. Danish.
Clinical interpretation of cell-based non-invasive prenatal testing for monogenic disorders including repeat expansion disorders: potentials and pitfalls.
Jeppesen LD, Hatt L, Singh R, Schelde P, Ravn K, Toft CL, Laursen MB, Hedegaard J, Christensen IB, Nicolaisen BH, Andreasen L, Pedersen LH, Vogel I, Lildballe DL. Jeppesen LD, et al. Among authors: lildballe dl. Front Genet. 2023 Sep 27;14:1188472. doi: 10.3389/fgene.2023.1188472. eCollection 2023. Front Genet. 2023. PMID: 37829280 Free PMC article.
Genetic analysis identifies the SLC4A3 anion exchanger as a major gene for short QT syndrome.
Christiansen MK, Kjær-Sørensen K, Clavsen NC, Dittmann S, Jensen MF, Guldbrandsen HØ, Pedersen LN, Sørensen RH, Lildballe DL, Müller K, Müller P, Vogel K, Rudic B, Borggrefe M, Oxvig C, Aalkjær C, Schulze-Bahr E, Matchkov V, Bundgaard H, Jensen HK. Christiansen MK, et al. Among authors: lildballe dl. Heart Rhythm. 2023 Aug;20(8):1136-1143. doi: 10.1016/j.hrthm.2023.02.010. Epub 2023 Feb 15. Heart Rhythm. 2023. PMID: 36806574 Free article.
Cell-Based NIPT Detects 47,XXY Genotype in a Twin Pregnancy.
Jeppesen LD, Hjortshøj TD, Hindkjær J, Hatt L, Petersen OB, Singh R, Schelde P, Andreasen L, Christensen R, Lildballe DL, Vogel I. Jeppesen LD, et al. Among authors: lildballe dl. Front Genet. 2022 Mar 11;13:842092. doi: 10.3389/fgene.2022.842092. eCollection 2022. Front Genet. 2022. PMID: 35360877 Free PMC article.
50 results