Sari Tuupanen

Sari Tuupanen

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Sari Tuupanen

Sari Tuupanen

Publications by authors named "Sari Tuupanen"

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37Publications

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Clonally related uterine leiomyomas are common and display branched tumor evolution.

Hum Mol Genet 2015 Aug 10;24(15):4407-16. Epub 2015 May 10.

Department of Medical and Clinical Genetics, Haartman Institute, Research Programs Unit, Genome-Scale Biology, University of Helsinki, PO Box 63, Helsinki FIN-00014, Finland,

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http://dx.doi.org/10.1093/hmg/ddv177DOI Listing
August 2015

CTCF/cohesin-binding sites are frequently mutated in cancer.

Nat Genet 2015 Jul 8;47(7):818-21. Epub 2015 Jun 8.

1] Genome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland. [2] Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1038/ng.3335DOI Listing
July 2015

Systematic search for rare variants in Finnish early-onset colorectal cancer patients.

Cancer Genet 2015 Jan-Feb;208(1-2):35-40. Epub 2014 Dec 31.

Department of Medical Genetics, Genome-Scale Biology Program, University of Helsinki, Biomedicum, Helsinki, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.cancergen.2014.12.004DOI Listing
May 2015

Lessons from functional analysis of genome-wide association studies.

Cancer Res 2013 Jul 5;73(14):4180-4. Epub 2013 Jul 5.

Department of Biosciences and Nutrition, SciLife Center, Karolinska Institutet, Clinical Research Center, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1158/0008-5472.CAN-13-0789DOI Listing
July 2013

Exome sequencing in diagnostic evaluation of colorectal cancer predisposition in young patients.

Scand J Gastroenterol 2013 Jun 2;48(6):672-8. Epub 2013 Apr 2.

Department of Medical Genetics, Genome-Scale Biology Program, University of Helsinki, Biomedicum, P.O. Box 63, FIN-00014 University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.3109/00365521.2013.783102DOI Listing
June 2013

Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy.

Gastroenterology 2012 Dec 6;143(6):1482-1491.e3. Epub 2012 Sep 6.

Department of Medical Genetics, Genome-Scale Biology Research Program, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1053/j.gastro.2012.08.045DOI Listing
December 2012

No evidence of RET germline mutations in familial pituitary adenoma.

J Mol Endocrinol 2011 Feb 21;46(1):1-8. Epub 2010 Dec 21.

Genome-Scale Biology Research Program, Department of Medical Genetics, University of Helsinki, 00014 Helsinki, Finland.

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http://dx.doi.org/10.1677/JME-10-0052DOI Listing
February 2011

Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci.

BMC Med Genet 2011 Feb 14;12:23. Epub 2011 Feb 14.

Department of Medical Genetics, Genome-Scale Biology Research Program, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1186/1471-2350-12-23DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3045878PMC
February 2011

Low-penetrance susceptibility variants in familial colorectal cancer.

Cancer Epidemiol Biomarkers Prev 2010 Jun 25;19(6):1478-83. Epub 2010 May 25.

Department of Medical Genetics, Genome-Scale Biology Research Program, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1158/1055-9965.EPI-09-1320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2883738PMC
June 2010

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3.

Nat Genet 2008 May 30;40(5):623-30. Epub 2008 Mar 30.

Molecular and Population Genetics Laboratory, London Research Institute, Cancer Research UK, London WC2A 3PX, UK.

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http://dx.doi.org/10.1038/ng.111DOI Listing
May 2008

Unregulated smooth-muscle myosin in human intestinal neoplasia.

Proc Natl Acad Sci U S A 2008 Apr 7;105(14):5513-8. Epub 2008 Apr 7.

Department of Medical Genetics and Division of Pathology, HUSLAB and Haartman Institute, Helsinki University Central Hospital and Genome Scale Biology Program, Biomedicum Helsinki, University of Helsinki, 00014, Helsinki, Finland.

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http://www.pnas.org/cgi/doi/10.1073/pnas.0801213105
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http://dx.doi.org/10.1073/pnas.0801213105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2291082PMC
April 2008

Allelic imbalance at rs6983267 suggests selection of the risk allele in somatic colorectal tumor evolution.

Cancer Res 2008 Jan;68(1):14-7

Department of Medical Genetics, Genome-Scale Biology Research Program, Biomedicum Helsinki, University of Helsinki, P.O. Box 63, FIN-00014 Helsinki, Finland.

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http://dx.doi.org/10.1158/0008-5472.CAN-07-5766DOI Listing
January 2008

Computational identification of candidate loci for recessively inherited mutation using high-throughput SNP arrays.

Bioinformatics 2007 Aug 17;23(15):1952-61. Epub 2007 May 17.

Computational Systems Biology Laboratory, Institute of Biomedicine, University of Helsinki, Finland.

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https://academic.oup.com/bioinformatics/article-lookup/doi/1
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http://dx.doi.org/10.1093/bioinformatics/btm263DOI Listing
August 2007

No evidence for association of NOD2 R702W and G908R with colorectal cancer.

Int J Cancer 2007 Jul;121(1):76-9

Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1002/ijc.22651DOI Listing
July 2007

A locus for autosomal dominant keratoconus: linkage to 16q22.3-q23.1 in Finnish families.

Invest Ophthalmol Vis Sci 2002 Oct;43(10):3160-4

Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Helsinki, Finland.

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October 2002