Somatic STAT3 Mutations in Large Granular Lymphocytic Leukemia
Koskela, Hanna L.M, Eldfors, Samuli, Ellonen, Pekka, van Adrichem, Arjan J, Kuusanmäki, Heikki, Andersson, Emma I, Lagström, Sonja, Clemente, Michael J, Olson, Thomas, Jalkanen, Sari E, Majumder, Muntasir Mamun, Almusa, Henrikki, Edgren, Henrik, Lepistö, Maija, Mattila, Pirkko, Guinta, Kathryn, Koistinen, Pirjo, Kuittinen, Taru, Penttinen, Kati, Parsons, Alun, Knowles, Jonathan, Saarela, Janna, Wennerberg, Krister, Kallioniemi, Olli, Porkka, Kimmo, Loughran, Thomas P, Heckman, Caroline A, Maciejewski, Jaroslaw P, Mustjoki, Satu
Published in The New England journal of medicine (17.05.2012)
Published in The New England journal of medicine (17.05.2012)
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Journal Article
Comparison of solution-based exome capture methods for next generation sequencing
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
Published in Genome biology (28.09.2011)
Published in Genome biology (28.09.2011)
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Journal Article
Examining the effect of mitochondrial DNA variants on blood pressure in two Finnish cohorts
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
Published in Scientific reports (12.01.2021)
Published in Scientific reports (12.01.2021)
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Journal Article
Somatic mutation profiles as molecular classifiers of ulcerative colitis‐associated colorectal cancer
Mäki‐Nevala, Satu, Ukwattage, Sanjeevi, Olkinuora, Alisa, Almusa, Henrikki, Ahtiainen, Maarit, Ristimäki, Ari, Seppälä, Toni, Lepistö, Anna, Mecklin, Jukka‐Pekka, Peltomäki, Päivi
Published in International journal of cancer (15.06.2021)
Published in International journal of cancer (15.06.2021)
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Journal Article
Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield
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
Published in Scientific reports (21.02.2024)
Published in Scientific reports (21.02.2024)
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Journal Article
JAK/STAT-Activating Genomic Alterations Are a Hallmark of T-PLL
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
Published in Cancers (21.11.2019)
Published in Cancers (21.11.2019)
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Journal Article
Author Correction: Clonal hematopoiesis in patients with rheumatoid arthritis
Savola, Paula, Lundgren, Sofie, Keränen, Mikko A I, Almusa, Henrikki, Ellonen, Pekka, Leirisalo-Repo, Marjatta, Kelkka, Tiina, Mustjoki, Satu
Published in Blood cancer journal (New York) (17.02.2021)
Published in Blood cancer journal (New York) (17.02.2021)
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Journal Article
SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy
Hakonen, Anna H., Polvi, Anne, Saloranta, Carola, Paetau, Anders, Heikkilä, Päivi, Almusa, Henrikki, Ellonen, Pekka, Jakkula, Eveliina, Saarela, Janna, Aittomäki, Kristiina
Published in American journal of medical genetics. Part A (01.07.2019)
Published in American journal of medical genetics. Part A (01.07.2019)
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Journal Article
Molecular Basis of Mismatch Repair Protein Deficiency in Tumors from Lynch Suspected Cases with Negative Germline Test Results
Olkinuora, Alisa, Gylling, Annette, Almusa, Henrikki, Eldfors, Samuli, Lepistö, Anna, Mecklin, Jukka-Pekka, Nieminen, Taina Tuulikki, Peltomäki, Päivi
Published in Cancers (09.07.2020)
Published in Cancers (09.07.2020)
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Journal Article
Presentation and diagnosis of childhood-onset combined pituitary hormone deficiency: A single center experience from over 30 years
Hietamäki, Johanna, Kärkinen, Juho, Iivonen, Anna-Pauliina, Vaaralahti, Kirsi, Tarkkanen, Annika, Almusa, Henrikki, Huopio, Hanna, Hero, Matti, Miettinen, Päivi J., Raivio, Taneli
Published in EClinicalMedicine (01.09.2022)
Published in EClinicalMedicine (01.09.2022)
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Journal Article
Reconstruction and validation of RefRec: a global model for the yeast molecular interaction network
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
Published in PloS one (14.05.2010)
Published in PloS one (14.05.2010)
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Journal Article
Kallmann syndrome in a patient with Weiss–Kruszka syndrome and a de novo deletion in 9q31.2
Iivonen, Anna-Pauliina, Kärkinen, Juho, Yellapragada, Venkatram, Sidoroff, Virpi, Almusa, Henrikki, Vaaralahti, Kirsi, Raivio, Taneli
Published in European journal of endocrinology (01.07.2021)
Published in European journal of endocrinology (01.07.2021)
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Journal Article
Distinct Genetic and Fragmentomic Signatures of Plasma Ctdna Synergize and Resolve Clinical Challenges in Patients with Large B-Cell Lymphoma
Meriranta, Leo, Arffman, Maare, Jørgensen, Judit Mészáros, Holte, Harald, Drott, Kristina, Almusa, Henrikki, Saarinen, Emma, Hannula, Sari, Karjalainen-Lindsberg, Marja-Liisa, Beiske, Klaus, Pedersen, Mette Ølgod, Fluge, Øystein, Brown, Peter de Nully, Jyrkkiö, Sirkku, Leppä, Sirpa
Published in Blood (02.11.2023)
Published in Blood (02.11.2023)
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Journal Article
Individualized systems medicine strategy to tailor treatments for patients with chemorefractory acute myeloid leukemia
Pemovska, Tea, Kontro, Mika, Yadav, Bhagwan, Edgren, Henrik, Eldfors, Samuli, Szwajda, Agnieszka, Almusa, Henrikki, Bespalov, Maxim M, Ellonen, Pekka, Elonen, Erkki, Gjertsen, Bjørn T, Karjalainen, Riikka, Kulesskiy, Evgeny, Lagström, Sonja, Lehto, Anna, Lepistö, Maija, Lundán, Tuija, Majumder, Muntasir Mamun, Marti, Jesus M Lopez, Mattila, Pirkko, Murumägi, Astrid, Mustjoki, Satu, Palva, Aino, Parsons, Alun, Pirttinen, Tero, Rämet, Maria E, Suvela, Minna, Turunen, Laura, Västrik, Imre, Wolf, Maija, Knowles, Jonathan, Aittokallio, Tero, Heckman, Caroline A, Porkka, Kimmo, Kallioniemi, Olli, Wennerberg, Krister
Published in Cancer discovery (01.12.2013)
Published in Cancer discovery (01.12.2013)
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Journal Article
Congenital hypogonadotropic hypogonadism in a patient with a de novo POGZ mutation
Eskici, Nazli, Madhusudan, Shrinidhi, Vaaralahti, Kirsi, Yellapragada, Venkatram, Gomez-Sanchez, Celia, Kärkinen, Juho, Almusa, Henrikki, Brandstack, Nina, Miettinen, Päivi J, Wang, Yafei, Raivio, Taneli
Published in European journal of endocrinology (02.08.2023)
Published in European journal of endocrinology (02.08.2023)
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Journal Article
Clonal hematopoiesis in patients with rheumatoid arthritis
Savola, Paula, Lundgren, Sofie, Keränen, Mikko A I, Almusa, Henrikki, Ellonen, Pekka, Leirisalo-Repo, Marjatta, Kelkka, Tiina, Mustjoki, Satu
Published in Blood cancer journal (New York) (26.07.2018)
Published in Blood cancer journal (New York) (26.07.2018)
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Journal Article
Does breast carcinoma belong to the Lynch syndrome tumor spectrum? - Somatic mutational profiles vs. ovarian and colorectal carcinomas
Porkka, Noora K, Olkinuora, Alisa, Kuopio, Teijo, Ahtiainen, Maarit, Eldfors, Samuli, Almusa, Henrikki, Mecklin, Jukka-Pekka, Peltomäki, Päivi
Published in Oncotarget (07.04.2020)
Published in Oncotarget (07.04.2020)
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Journal Article
Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction
Kaustio, Meri, Nayebzadeh, Naemeh, Hinttala, Reetta, Tapiainen, Terhi, Åström, Pirjo, Mamia, Katariina, Pernaa, Nora, Lehtonen, Johanna, Glumoff, Virpi, Rahikkala, Elisa, Honkila, Minna, Olsén, Päivi, Hassinen, Antti, Polso, Minttu, Al Sukaiti, Nashat, Al Shekaili, Jalila, Al Kindi, Mahmood, Al Hashmi, Nadia, Almusa, Henrikki, Bulanova, Daria, Haapaniemi, Emma, Chen, Pu, Suo-Palosaari, Maria, Vieira, Päivi, Tuominen, Hannu, Kokkonen, Hannaleena, Al Macki, Nabil, Al Habsi, Huda, Löppönen, Tuija, Rantala, Heikki, Pietiäinen, Vilja, Zhang, Shen-Ying, Renko, Marjo, Hautala, Timo, Al Farsi, Tariq, Uusimaa, Johanna, Saarela, Janna
Published in Journal of allergy and clinical immunology (01.08.2021)
Published in Journal of allergy and clinical immunology (01.08.2021)
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Journal Article
Mitochondrial genome-wide analysis of nuclear DNA methylation quantitative trait loci
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
Published in Human molecular genetics (19.05.2022)
Published in Human molecular genetics (19.05.2022)
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Journal Article
Recessive MYH3 variants cause “Contractures, pterygia, and variable skeletal fusions syndrome 1B” mimicking Escobar variant multiple pterygium syndrome
Hakonen, Anna H., Lehtonen, Johanna, Kivirikko, Sirpa, Keski‐Filppula, Riikka, Moilanen, Jukka, Kivisaari, Reetta, Almusa, Henrikki, Jakkula, Eveliina, Saarela, Janna, Avela, Kristiina, Aittomäki, Kristiina
Published in American journal of medical genetics. Part A (01.11.2020)
Published in American journal of medical genetics. Part A (01.11.2020)
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