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Allan Lind-Thomsen

Ph.d. student / Ph.d. studerende

Systematic identification of disease genes and disease-complexes by bioinformatic analysis of structural chromosomal rearrangements

Bioinformatic methods and tools will be developed and applied for the analysis of the data in Mendelian Cytogenetics Network database (MCNdb) (http://www.mcndb.org), containing phenotype and karyotype information from more than 3000 disease associated balanced balanced chromosomal rearrangements (DBCRs) originating from cytogenetic laboratories all over the world. The aim is to select those DBCRs that have the highest probability to be causatively related to the associated phenotype

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Publications related to WJC

5.   Eskola PJ, Lemmelä S, Kjaer PK, Solovieva S, Männikkö M, Tommerup N, Lind-Thomsen A, Husgafvel-Pursiainen K, Cheung KMC, Chan D, Samartzis D, Karppinen J. Genetic Association Studies in Lumbar Disc Degeneration. A Systematic Review. PLoS One. 2012:7:e49995. doi:10.1371/journal.pone.0049995.
4.   Kariminejad R, Lind-Thomsen A, Tümer Z, Erdogan F, Ropers HH, Tommerup N, Ullmann R, Møller RS. High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations. Hum Mutat. 2011;32:1427-35.
3.   Gilling M, Lind-Thomsen A, Mang Y, Bak M, Møller M, Ullmann R, Kristoffersson U, Kalscheuer VM, Henriksen KF, Bugge M, Tümer Z, Tommerup N. Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation. Eur J Med Genet. 2011;54:e383-8.
2.   Vestergaard J, Lind-Thomsen A, Pedersen MW, Ostergaard Jarmer H, Bak M, Hasholt L, Tommerup N, Tümer Z, Larsen LA. GLI1 Is Involved in Cell Cycle Regulation and Proliferation of NT2 Embryonal Carcinoma Stem Cells. DNA Cell Biol. 2008;27:251-6.
1.   Elmén J, Lindow M, Silahtaroglu A, Bak M, Christensen M, Lind-Thomsen A, Hedtjärn M, Hansen JB, Hansen HF, Straarup EM, McCullagh K, Kearney P, Kauppinen S. Antagonism of microRNA-122 in mice by systemically administered LNA-antimiR leads to up-regulation of a large set of predicted target mRNAs in the liver. Nucleic Acids Res. 2008;36:1153-62.

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