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Henrikki Almusa

  • PL 20 (Tukholmankatu 8)

    00014

    Finland

20112020

Research output per year

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Publications

2020

Molecular Basis of Mismatch Repair Protein Deficiency in Tumors from Lynch Suspected Cases with Negative Germline Test Results

Olkinuora, A., Gylling, A., Almusa, H., Eldfors, S., Lepistö, A., Mecklin, J-P., Nieminen, T. T. & Peltomäki, P., Jul 2020, In : Cancers. 12, 7, 15 p., 1853.

Research output: Contribution to journalArticleScientificpeer-review

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

Hakonen, A. H., Lehtonen, J., Kivirikko, S., Keski-Filppula, R., Moilanen, J., Kivisaari, R., Almusa, H., Jakkula, E., Saarela, J., Avela, K. & Aittomäki, K., 9 Sep 2020, In : American journal of medical genetics. Part A. 6 p.

Research output: Contribution to journalArticleScientificpeer-review

2019

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

Laaksonen, J., Seppälä, I., Raitoharju, E., Mononen, N., Lyytikäinen, L-P., Waldenberger, M., Illig, T., Lepistö, M., Almusa, H., Ellonen, P., Hutri-Kähönen, N., Juonala, M., Kähönen, M., Raitakari, O., Salonen, J. T. & Lehtimäki, T., 15 Apr 2019, In : Human Molecular Genetics. 28, 8, p. 1381-1391 11 p.

Research output: Contribution to journalArticleScientificpeer-review

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

Wahnschaffe, L., Braun, T., Timonen, S. H., Kumar, A., Schrader, A., Wagle, P., Almusa, H., Johansson, P., Bellanger, D., López, C., Haferlach, C., Stern, M-H., Dürig, J., Siebert, R., Mustjoki, S., Aittokallio, T. & Herling, M., 21 Nov 2019, In : Cancers. 11, 12, 18 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy

Hakonen, A. H., Polvi, A., Saloranta, C., Paetau, A., Heikkilä, P., Almusa, H., Ellonen, P., Jakkula, E., Saarela, J. & Aittomäki, K., Jul 2019, In : American Journal of Medical Genetics. Part A. 179, 7, p. 1362-1365 4 p.

Research output: Contribution to journalArticleScientificpeer-review

2018

Clonal hematopoiesis in patients with rheumatoid arthritis

Savola, P., Lundgren, S., Keränen, M. A. I., Almusa, H., Ellonen, P., Leirisalo-Repo, M., Kelkka, T. & Mustjoki, S., 26 Jul 2018, In : Blood cancer journal. 8, 5 p., 69.

Research output: Contribution to journalLetterScientificpeer-review

Open Access
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2017

Monitoring therapy responses at the leukemic subclone level by ultra-deep amplicon resequencing in acute myeloid leukemia

Ojamies, P., Kontro, M., Edgren, H., Ellonen, P., Lagström, S., Almusa, H., Miettinen, T., Eldfors, S., Tamborero, D., Wennerberg, K., Heckman, C., Porkka, K., Wolf, M. & Kallioniemi, O., 2017, In : Leukemia. 31, 5, p. 1048-1058 11 p.

Research output: Contribution to journalArticleScientificpeer-review

2016

Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland

Trotta, L., Hautala, T., Hamalainen, S., Syrjanen, J., Viskari, H., Almusa, H., Lepisto, M., Kaustio, M., Porkka, K., Palotie, A., Seppanen, M. & Saarela, J., Oct 2016, In : European Journal of Human Genetics. 24, 10, p. 1473-1478 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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2015

Complete Genome Sequences of Influenza A/H1N1 Strains Isolated from Patients during the 2013-2014 Epidemic Season in Finland

Jalovaara, P., Mishel, P., Kallio-Kokko, H., Valkonen, M., Kantele, A., Ikonen, N., Julkunen, I., Kakkola, L., Kutsaya, A., Vuorinen, T., Mattila, P., Almusa, H. & Kainov, D., 2015, In : Genome Announcements. 3, 2, 2 p., e01523-14.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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2014

Influenza pH1N1 virus accumulated H275Y mutation neuraminidase during propagation in MDCK cells

Mishel, P., Bychkov, D., Kallio-Kokko, H., Valkonen, M., Kantele, A., Mattila, P. M., Almusa, H., Jalovaara, P. & Kainov, D., 2014, In : Genome Announcements. 2, 6, e01349-14.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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2013

Individualized Systems Medicine Strategy to Tailor Treatments for Patients with Chemorefractory Acute Myeloid Leukemia

Pemovska, T., Kontro, M., Yadav, B., Edgren, H., Eldfors, S., Szwajda, A., Almusa, H., Bespalov, M. M., Ellonen, P., Elonen, E., Gjertsen, B. T., Karjalainen, R., Kulesskiy, E., Lagström, S., Lehto, A., Lepistö, M., Lundan, T., Majumder, M. M., Marti, J. M. L., Mattila, P. & 16 others, Murumagi, A., Mustjoki, S., Palva, A., Parsons, A., Pirttinen, T., Ramet, M. E., Suvela, M., Turunen, L., Vastrik, I., Wolf, M., Knowles, J., Aittokallio, T., Heckman, C. A., Porkka, K., Kallioniemi, O. & Wennerberg, K., Dec 2013, In : Cancer Discovery. 3, 12, p. 1416-1429 14 p.

Research output: Contribution to journalArticleScientificpeer-review

The Finnish Disease Heritage Database (FinDis) Update-A Database for the Genes Mutated in the Finnish Disease Heritage Brought to the Next-Generation Sequencing Era

Polvi, A., Linturi, H., Varilo, T., Anttonen, A-K., Byrne, M., Fokkema, I. F. A. C., Almusa, H., Metzidis, A., Avela, K., Aula, P., Kestila, M. & Muilu, J., Nov 2013, In : Human Mutation. 34, 11, p. 1458-1466 9 p.

Research output: Contribution to journalArticleScientificpeer-review

2012

A Single-Nucleotide Substitution Mutator Phenotype Revealed by Exome Sequencing of Human Colon Adenomas

Nikolaev, S. I., Sotiriou, S. K., Pateras, I. S., Santoni, F., Sougioultzis, S., Edgren, H., Almusa, H., Robyr, D., Guipponi, M., Saarela, J., Gorgoulis, V. G., Antonarakis, S. E. & Halazonetis, T. D., 1 Dec 2012, In : Cancer Research. 72, 23, p. 6279-6289 11 p.

Research output: Contribution to journalArticleScientificpeer-review

High-Throughput Ex Vivo Drug Sensitivity and Resistance Testing (DSRT) Integrated with Deep Genomic and Molecular Profiling Reveal New Therapy Options with Targeted Drugs in Subgroups of Relapsed Chemorefractory AML

Heckman, C. A., Kontro, M., Pemovska, T., Eldfors, S., Edgren, H., Kulesskiy, E., Majumder, M. M., Karjalainen, R., Yadav, B., Szwajda, A., Venkata, N. P. K., Murumagi, A., Malani, D., Parsons, A., Hintsanen, P., Almusa, H., Marti, J. M. L., Ellonen, P., Mattila, P., Lepisto, M. & 8 others, Lagstrom, S., Suvela, M., Mustjoki, S., Saarela, J., Aittokallio, T., Kallioniemi, O., Wennerberg, K. & Porkka, K., 16 Nov 2012, In : Blood. 120, 21, 2 p., Meeting Abstract: 288 .

Research output: Contribution to journalMeeting AbstractResearchpeer-review

Somatic STAT3 Mutations in Large Granular Lymphocytic Leukemia

Koskela, H. L. M., Eldfors, S., Ellonen, P., van Adrichem, A. J., Kuusanmäki, H., Andersson, E. I., Lagström, S., Clemente, M. J., Olson, T., Jalkanen, S. E., Majumder, M. M., Almusa, H., Edgren, H., Lepistö, M., Mattila, P., Guinta, K., Koistinen, P., Kuittinen, T., Penttinen, K., Parsons, A. & 9 others, Knowles, J., Saarela, J., Wennerberg, K., Kallioniemi, O., Porkka, K., Loughran, T. P., Heckman, C. A., Maciejewski, J. P. & Mustjoki, S., 2012, In : New England Journal of Medicine. 366, 20, p. 1905-1913 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions

Tyynismaa, H., Sun, R., Ahola-Erkkila, S., Almusa, H., Poyhonen, R., Korpela, M. P., Honkaniemi, J., Isohanni, P., Paetau, A., Wang, L. & Suomalainen, A., 2012, In : Human Molecular Genetics. 21, 1, p. 66-75 10 p.

Research output: Contribution to journalArticleScientificpeer-review

2011

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

Sulonen, A-M., Ellonen, P., Almusa, H., Lepistö, M., Eldfors, S., Hannula, S., Tyynismaa, H., Miettinen, T., Salo, P., Heckman, C., Joensuu, H., Raivio, T., Suomalainen, A. & Saarela, J., 2011, In : Genome Biology. 12, 9, p. Article Number: R9 17 p.

Research output: Contribution to journalArticleScientificpeer-review