Works by Almusa, Henrikki

Results: 17

Author Correction: Clonal hematopoiesis in patients with rheumatoid arthritis.

Published in:

2021

By:

Savola, Paula;
Lundgren, Sofie;
Keränen, Mikko A. I.;
Almusa, Henrikki;
Ellonen, Pekka;
Leirisalo-Repo, Marjatta;
Kelkka, Tiina;
Mustjoki, Satu

Publication type:

Correction Notice

Mitochondrial genome-wide analysis of nuclear DNA methylation quantitative trait loci.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 10, p. 1720, doi. 10.1093/hmg/ddab339

By:

Laaksonen, Jaakko;
Mishra, Pashupati P;
Seppälä, Ilkka;
Raitoharju, Emma;
Marttila, Saara;
Mononen, Nina;
Lyytikäinen, Leo-Pekka;
Kleber, Marcus E;
Delgado, Graciela E;
Lepistö, Maija;
Almusa, Henrikki;
Ellonen, Pekka;
Lorkowski, Stefan;
März, Winfried;
Hutri-Kähönen, Nina;
Raitakari, Olli;
Kähönen, Mika;
Salonen, Jukka T;
Lehtimäki, Terho

Publication type:

Article

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

Published in:

Cancers, 2020, v. 12, n. 7, p. 1853, doi. 10.3390/cancers12071853

By:

Olkinuora, Alisa;
Gylling, Annette;
Almusa, Henrikki;
Eldfors, Samuli;
Lepistö, Anna;
Mecklin, Jukka-Pekka;
Nieminen, Taina Tuulikki;
Peltomäki, Päivi

Publication type:

Article

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

Published in:

Cancers, 2019, v. 11, n. 12, p. 1833, doi. 10.3390/cancers11121833

By:

Wahnschaffe, Linus;
Braun, Till;
Timonen, Sanna;
Giri, Anil K.;
Schrader, Alexandra;
Wagle, Prerana;
Almusa, Henrikki;
Johansson, Patricia;
Bellanger, Dorine;
López, Cristina;
Haferlach, Claudia;
Stern, Marc-Henri;
Dürig, Jan;
Siebert, Reiner;
Mustjoki, Satu;
Aittokallio, Tero;
Herling, Marco

Publication type:

Article

Kallmann syndrome in a patient with Weiss-Kruszka syndrome and a de novo deletion in 9q31.2.

Published in:

European Journal of Endocrinology, 2021, v. 185, n. 1, p. 57, doi. 10.1530/EJE-20-1387

By:

Iivonen, Anna-Pauliina;
Kärkinen, Juho;
Yellapragada, Venkatram;
Sidoroff, Virpi;
Almusa, Henrikki;
Vaaralahti, Kirsi;
Raivio, Taneli

Publication type:

Article

Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-54866-4

By:

Lehtonen, Johanna;
Sulonen, Anna-Maija;
Almusa, Henrikki;
Lehtokari, Vilma-Lotta;
Johari, Mridul;
Palva, Aino;
Hakonen, Anna H.;
Wartiovaara, Kirmo;
Lehesjoki, Anna-Elina;
Udd, Bjarne;
Wallgren-Pettersson, Carina;
Pelin, Katarina;
Savarese, Marco;
Saarela, Janna

Publication type:

Article

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

Published in:

Genome Biology, 2011, v. 12, n. 9, p. 1, doi. 10.1186/gb-2011-12-9-r94

By:

Sulonen, Anna-Maija;
Ellonen, Pekka;
Almusa, Henrikki;
Lepistö, Maija;
Eldfors, Samuli;
Hannula, Sari;
Miettinen, Timo;
Tyynismaa, Henna;
Salo, Perttu;
Heckman, Caroline;
Joensuu, Heikki;
Raivio, Taneli;
Suomalainen, Anu;
Saarela, Janna

Publication type:

Article

Exome-wide association study reveals 7 functional variants associated with ex-vivo drug response in acute myeloid leukemia patients.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02130-7

By:

Giri, Anil K.;
Lin, Jake;
Kyriakidis, Konstantinos;
Tripathi, Garima;
Almusa, Henrikki

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2605, doi. 10.1002/ajmg.a.61836

By:

Hakonen, Anna H.;
Lehtonen, Johanna;
Kivirikko, Sirpa;
Keski‐Filppula, Riikka;
Moilanen, Jukka;
Kivisaari, Reetta;
Almusa, Henrikki;
Jakkula, Eveliina;
Saarela, Janna;
Avela, Kristiina;
Aittomäki, Kristiina

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1362, doi. 10.1002/ajmg.a.61186

By:

Hakonen, Anna H.;
Polvi, Anne;
Saloranta, Carola;
Paetau, Anders;
Heikkilä, Päivi;
Almusa, Henrikki;
Ellonen, Pekka;
Jakkula, Eveliina;
Saarela, Janna;
Aittomäki, Kristiina

Publication type:

Article

Examining the effect of mitochondrial DNA variants on blood pressure in two Finnish cohorts.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-020-79931-6

By:

Laaksonen, Jaakko;
Mishra, Pashupati P.;
Seppälä, Ilkka;
Lyytikäinen, Leo-Pekka;
Raitoharju, Emma;
Mononen, Nina;
Lepistö, Maija;
Almusa, Henrikki;
Ellonen, Pekka;
Hutri-Kähönen, Nina;
Juonala, Markus;
Raitakari, Olli;
Kähönen, Mika;
Salonen, Jukka T.;
Lehtimäki, Terho

Publication type:

Article

Somatic mutation profiles as molecular classifiers of ulcerative colitis‐associated colorectal cancer.

Published in:

International Journal of Cancer, 2021, v. 148, n. 12, p. 2997, doi. 10.1002/ijc.33492

By:

Mäki‐Nevala, Satu;
Ukwattage, Sanjeevi;
Olkinuora, Alisa;
Almusa, Henrikki;
Ahtiainen, Maarit;
Ristimäki, Ari;
Seppälä, Toni;
Lepistö, Anna;
Mecklin, Jukka‐Pekka;
Peltomäki, Päivi

Publication type:

Article

Reconstruction and Validation of RefRec: A Global Model for the Yeast Molecular Interaction Network.

Published in:

PLoS ONE, 2010, v. 5, n. 5, p. 1, doi. 10.1371/journal.pone.0010662

By:

Aho, Tommi;
Almusa, Henrikki;
Matilainen, Jukka;
Larjo, Antti;
Ruusuvuori, Pekka;
Aho, Kaisa-Leena;
Wilhelm, Thomas;
Lähdesmäki, Harri;
Beyer, Andreas;
Harju, Manu;
Chowdhury, Sharif;
Leinonen, Kalle;
Roos, Christophe;
Yli-Harja, Olli

Publication type:

Article

Whole-exome sequencing identifies distinct genomic aberrations in eccrine porocarcinomas and poromas.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03586-7

By:

Puttonen, Maya;
Almusa, Henrikki;
Böhling, Tom;
Koljonen, Virve;
Sihto, Harri

Publication type:

Article

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

Published in:

Human Mutation, 2013, v. 34, n. 11, p. 1458, doi. 10.1002/humu.22389

By:

Polvi, Anne;
Linturi, Henna;
Varilo, Teppo;
Anttonen, Anna-Kaisa;
Byrne, Myles;
Fokkema, Ivo F.A.C.;
Almusa, Henrikki;
Metzidis, Anthony;
Avela, Kristiina;
Aula, Pertti;
Kestilä, Marjo;
Muilu, Juha

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2019, v. 28, n. 8, p. 1381, doi. 10.1093/hmg/ddz011

By:

Laaksonen, Jaakko;
Seppälä, Ilkka;
Raitoharju, Emma;
Mononen, Nina;
Lyytikäinen, Leo-Pekka;
Waldenberger, Melanie;
Illig, Thomas;
Lepistö, Maija;
Almusa, Henrikki;
Ellonen, Pekka;
Hutri-Kähönen, Nina;
Juonala, Markus;
Kähönen, Mika;
Raitakari, Olli;
Salonen, Jukka T;
Lehtimäki, Terho

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2012, v. 21, n. 1, p. 66, doi. 10.1093/hmg/ddr438

By:

Tyynismaa, Henna;
Sun, Ren;
Ahola-Erkkilä, Sofia;
Almusa, Henrikki;
Pöyhönen, Rosanna;
Korpela, Mari;
Honkaniemi, Jari;
Isohanni, Pirjo;
Paetau, Anders;
Wang, Liya;
Suomalainen, Anu

Publication type:

Article