Publications by authors named "Henrikki Almusa"

20Publications

Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.

Am J Med Genet A 2020 11 9;182(11):2605-2610. Epub 2020 Sep 9.

Department of Clinical Genetics, HUSLAB, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1002/ajmg.a.61836DOI Listing
November 2020

JAK/STAT-Activating Genomic Alterations Are a Hallmark of T-PLL.

Cancers (Basel) 2019 Nov 21;11(12). Epub 2019 Nov 21.

Department I of Internal Medicine, Center for Integrated Oncology (CIO), Aachen-Bonn-Cologne-Duesseldorf, University of Cologne (UoC), 50937 Cologne, Germany.

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http://dx.doi.org/10.3390/cancers11121833DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6966610PMC
November 2019

SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy.

Am J Med Genet A 2019 07 6;179(7):1362-1365. Epub 2019 May 6.

Department of Clinical Genetics, HUSLAB, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1002/ajmg.a.61186DOI Listing
July 2019

Discovery of mitochondrial DNA variants associated with genome-wide blood cell gene expression: a population-based mtDNA sequencing study.

Hum Mol Genet 2019 04;28(8):1381-1391

Department of Clinical Chemistry, Fimlab Laboratories and Finnish Cardiovascular Research Center Tampere, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.

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http://dx.doi.org/10.1093/hmg/ddz011DOI Listing
April 2019

Clonal hematopoiesis in patients with rheumatoid arthritis.

Blood Cancer J 2018 07 26;8(8):69. Epub 2018 Jul 26.

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

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http://dx.doi.org/10.1038/s41408-018-0107-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6066480PMC
July 2018

Individualized systems medicine strategy to tailor treatments for patients with chemorefractory acute myeloid leukemia.

Cancer Discov 2013 Dec 20;3(12):1416-29. Epub 2013 Sep 20.

1Institute for Molecular Medicine Finland, FIMM; 2Hematology Research Unit Helsinki, Helsinki University Central Hospital, University of Helsinki, Helsinki; 3Department of Clinical Chemistry and TYKSLAB, Turku University Central Hospital, University of Turku, Turku; 4Department of Internal Medicine, Tampere University Hospital, Tampere, Finland; 5Department of Clinical Science, Hematology Section, University of Bergen; and 6Department of Internal Medicine, Hematology Section, Haukeland University Hospital, Bergen, Norway.

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http://dx.doi.org/10.1158/2159-8290.CD-13-0350DOI Listing
December 2013

Comparison of solution-based exome capture methods for next generation sequencing.

Genome Biol 2011 Sep 28;12(9):R94. Epub 2011 Sep 28.

Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Biomedicum Helsinki 2U, Tukholmankatu 8, 00290 Helsinki, Finland.

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http://dx.doi.org/10.1186/gb-2011-12-9-r94DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3308057PMC
September 2011