Outi Kilpivaara

Outi Kilpivaara

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Outi Kilpivaara

Outi Kilpivaara

Publications by authors named "Outi Kilpivaara"

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41Publications

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Characterization of an X-chromosome-linked telomere biology disorder in females with DKC1 mutation.

Leukemia 2019 01 5;33(1):275-278. Epub 2018 Sep 5.

Department of Hematology, Helsinki University Hospital Comprehensive Cancer Center and University of Helsinki, Helsinki, Finland.

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http://www.nature.com/articles/s41375-018-0243-5
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http://dx.doi.org/10.1038/s41375-018-0243-5DOI Listing
January 2019

Germline alterations in a consecutive series of acute myeloid leukemia.

Leukemia 2018 10 10;32(10):2282-2285. Epub 2018 Apr 10.

Genome-Scale Biology/Research Programs Unit, and Department of Medical and Clinical Genetics/Medicum, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1038/s41375-018-0049-5DOI Listing
October 2018

Detection of subclonal L1 transductions in colorectal cancer by long-distance inverse-PCR and Nanopore sequencing.

Sci Rep 2017 11 6;7(1):14521. Epub 2017 Nov 6.

Genome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, 00014, Finland.

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http://dx.doi.org/10.1038/s41598-017-15076-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673974PMC
November 2017

Whole-exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera.

Hum Genomics 2017 04 20;11(1). Epub 2017 Apr 20.

Genome-Scale Biology Research Program, Research Programs Unit and Department of Medical and Clinical Genetics, Medicum, University of Helsinki, P.O. Box 63, 00014, Helsinki, Finland.

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http://dx.doi.org/10.1186/s40246-017-0102-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5397753PMC
April 2017

Identification of homozygous deletion in ACAN and other candidate variants in familial classical Hodgkin lymphoma by exome sequencing.

Br J Haematol 2015 Aug 25;170(3):428-31. Epub 2015 Feb 25.

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

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http://dx.doi.org/10.1111/bjh.13295DOI 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

Frequent L1 retrotranspositions originating from TTC28 in colorectal cancer.

Oncotarget 2014 Feb;5(3):853-9

Genome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3996660PMC
http://dx.doi.org/10.18632/oncotarget.1781DOI Listing
February 2014

Characterization of uterine leiomyomas by whole-genome sequencing.

N Engl J Med 2013 Jul 5;369(1):43-53. Epub 2013 Jun 5.

Department of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1056/NEJMoa1302736DOI Listing
July 2013

MYBL2 is a sub-haploinsufficient tumor suppressor gene in myeloid malignancy.

Elife 2013 Jul 16;2:e00825. Epub 2013 Jul 16.

Institute of Transfusion Medicine , University Hospital Essen , Essen , Germany ; Department of Pediatric Oncology , Dana-Farber Cancer Institute , Boston , United States.

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http://dx.doi.org/10.7554/eLife.00825DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3713455PMC
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

HOXB13 G84E mutation in Finland: population-based analysis of prostate, breast, and colorectal cancer risk.

Cancer Epidemiol Biomarkers Prev 2013 Mar 4;22(3):452-60. Epub 2013 Jan 4.

Johanna Schleutker, Medical Biochemistry and Genetics, Institute of Biomedicine, Kiinamyllynkatu 10, FI-20014 University of Turku, Finland.

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http://dx.doi.org/10.1158/1055-9965.EPI-12-1000-TDOI Listing
March 2013

Breast tumors from CHEK2 1100delC-mutation carriers: genomic landscape and clinical implications.

Breast Cancer Res 2011 Sep 20;13(5):R90. Epub 2011 Sep 20.

Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Haartmaninkatu 8, Helsinki, FI-00029, Finland.

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http://dx.doi.org/10.1186/bcr3015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3262202PMC
September 2011

Comprehensive analysis of NuMA variation in breast cancer.

BMC Cancer 2008 Mar 10;8:71. Epub 2008 Mar 10.

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

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http://dx.doi.org/10.1186/1471-2407-8-71DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2311318PMC
March 2008

Combined effect of CCND1 and COMT polymorphisms and increased breast cancer risk.

BMC Cancer 2008 Jan 14;8. Epub 2008 Jan 14.

Fred A, Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1186/1471-2407-8-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2254632PMC
January 2008

RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies.

Am J Hum Genet 2007 Dec 16;81(6):1186-200. Epub 2007 Oct 16.

Cancer Research UK, Genetic Epidemiology Unit, Strangeways Research Laboratory, Cambridge, CB1 8RN, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S000292970763768
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http://dx.doi.org/10.1086/522611DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2276351PMC
December 2007

Prognostic role of HuR in hereditary breast cancer.

Clin Cancer Res 2007 Dec;13(23):6959-63

Department of Pathology/HUSLAB and Haartman Institute, Helsinki University Central Hospital, Finland.

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http://clincancerres.aacrjournals.org/cgi/doi/10.1158/1078-0
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http://dx.doi.org/10.1158/1078-0432.CCR-07-1432DOI Listing
December 2007

A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer.

Am J Hum Genet 2002 Aug 28;71(2):432-8. Epub 2002 Jul 28.

Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Haartmaninkatu 8, FIN-00029 HUS, Helsinki, Finland.

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http://dx.doi.org/10.1086/341943DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC379177PMC
August 2002