Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis
Gall, Kimberly, Izzo, Emanuela, Seppälä, Eija H, Alakurtti, Kirsi, Koskinen, Lotta, Saarinen, Inka, Singh, Akashdeep, Myllykangas, Samuel, Koskenvuo, Juha, Alastalo, Tero-Pekka
Published in PloS one (01.09.2021)
Published in PloS one (01.09.2021)
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Journal Article
Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure
Vanninen, Sari U M, Leivo, Krista, Seppälä, Eija H, Aalto-Setälä, Katriina, Pitkänen, Olli, Suursalmi, Piia, Annala, Antti-Pekka, Anttila, Ismo, Alastalo, Tero-Pekka, Myllykangas, Samuel, Heliö, Tiina M, Koskenvuo, Juha W
Published in PloS one (20.09.2018)
Published in PloS one (20.09.2018)
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Journal Article
Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy
Koskenvuo, Juha W, Saarinen, Inka, Ahonen, Saija, Tommiska, Johanna, Weckström, Sini, Seppälä, Eija H, Tuupanen, Sari, Kangas-Kontio, Tiia, Schleit, Jennifer, Heliö, Krista, Hathaway, Julie, Gummesson, Anders, Dahlberg, Pia, Ojala, Tiina H, Vepsäläinen, Ville, Kytölä, Ville, Muona, Mikko, Sistonen, Johanna, Salmenperä, Pertteli, Gentile, Massimiliano, Paananen, Jussi, Myllykangas, Samuel, Alastalo, Tero-Pekka, Heliö, Tiina
Published in PloS one (03.02.2021)
Published in PloS one (03.02.2021)
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Journal Article
Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy
Akinrinade, Oyediran, Heliö, Tiina, Lekanne Deprez, Ronald H, Jongbloed, Jan D H, Boven, Ludolf G, van den Berg, Maarten P, Pinto, Yigal M, Alastalo, Tero-Pekka, Myllykangas, Samuel, Spaendonck-Zwarts, Karin van, Tintelen, J Peter van, van der Zwaag, Paul A, Koskenvuo, Juha
Published in Scientific reports (11.03.2019)
Published in Scientific reports (11.03.2019)
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Journal Article
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients
Hathaway, Julie, Heliö, Krista, Saarinen, Inka, Tallila, Jonna, Seppälä, Eija H, Tuupanen, Sari, Turpeinen, Hannu, Kangas-Kontio, Tiia, Schleit, Jennifer, Tommiska, Johanna, Kytölä, Ville, Valori, Miko, Muona, Mikko, Sistonen, Johanna, Gentile, Massimiliano, Salmenperä, Pertteli, Myllykangas, Samuel, Paananen, Jussi, Alastalo, Tero-Pekka, Heliö, Tiina, Koskenvuo, Juha
Published in BMC cardiovascular disorders (05.03.2021)
Published in BMC cardiovascular disorders (05.03.2021)
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Journal Article
DSP p.(Thr2104Glnfs12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy
Heliö, Krista, Kangas-Kontio, Tiia, Weckström, Sini, Vanninen, Sari U M, Aalto-Setälä, Katriina, Alastalo, Tero-Pekka, Myllykangas, Samuel, Heliö, Tiina M, Koskenvuo, Juha W
Published in BMC medical genetics (31.01.2020)
Published in BMC medical genetics (31.01.2020)
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GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP, and POLR2M Genes Associates with Fully Penetrant Recessive Dilated Cardiomyopathy
Heliö, Krista, Mäyränpää, Mikko I, Saarinen, Inka, Ahonen, Saija, Junnila, Heidi, Tommiska, Johanna, Weckström, Sini, Holmström, Miia, Toivonen, Mia, Nikus, Kjell, Hathaway, Julie, Siivonen, Pauli, Muona, Mikko, Sistonen, Johanna, Salmenperä, Pertteli, Gentile, Massimiliano, Paananen, Jussi, Myllykangas, Samuel, Alastalo, Tero-Pekka, Heliö, Tiina, Koskenvuo, Juha
Published in Frontiers in genetics (25.11.2021)
Published in Frontiers in genetics (25.11.2021)
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P626: Clinical utility of structural variant calling using breakpoint analysis method for targeted NGS gene panels
Koskinen, Lotta, Andreevskaya, Margarita, Muona, Mikko, Pietila, Tuuli, Djupsjöbacka, Janica, Kytölä, Ville, Kämpjärvi, Kati, Myllykangas, Samuel, Salmenperä, Pertteli, Koskenvuo, Juha, Valori, Miko
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Journal Article
P622: Genetic results in a cohort of 489 patients with inherited myopathies
Gall, Kim, Hathaway, Julie, Koskinen, Lotta, Alakurtti, Kirsi, Hagström, Äsa, Segura, Monica, Kuisma, Heli, Seppala, Eija, Djupsjöbacka, Janica, Muona, Mikko, Pietila, Tuuli, Salmenperä, Pertteli, Saarinen, Inka, Veeraraghavan, Ray, Myllykangas, Samuel, Koskenvuo, Juha
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Journal Article
Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2
Qadri, Sami, Anttonen, Olli, Viikilä, Juho, Seppälä, Eija H, Myllykangas, Samuel, Alastalo, Tero-Pekka, Holmström, Miia, Heliö, Tiina, Koskenvuo, Juha W
Published in BMC medical genetics (17.08.2017)
Published in BMC medical genetics (17.08.2017)
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Journal Article
P577: Genetic findings in afor cohort of over 1,800 patients tested with a combined cardiomyopathy and arrhythmia panel
Hathaway, Julie, Huusko, Johanna, Cicerchia, Marcos, Ahonen, Saija, Tommiska, Johanna, Gall, Kim, Liaquat, Khalida, Howell, Victoria, Sluyters, Allison, Djupsjöbacka, Janica, Muona, Mikko, Saarinen, Inka, Seppala, Eija, Kangas-Kontio, Tiia, Koskinen, Lotta, Salmenperä, Pertteli, Myllykangas, Samuel, Koskenvuo, Juha
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Journal Article
Specificity, selection and significance of gene amplifications in cancer
Myllykangas, Samuel, Böhling, Tom, Knuutila, Sakari
Published in Seminars in cancer biology (01.02.2007)
Published in Seminars in cancer biology (01.02.2007)
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Journal Article
P554: A case series of 17 patients with VEXAS syndrome due to UBA1 Met41 variants
Scocchia, Alicia, Sluyters, Allison, Andreevskaya, Margarita, Alakurtti, Kirsi, Kokkonen, Paivi, Gall, Kimberly, Hathaway, Julie, Howell, Victoria, Koskinen, Lotta, Djupsjöbacka, Janica, Gentile, Massimiliano, Salmenperä, Pertteli, Paananen, Jussi, Myllykangas, Samuel, Koskenvuo, Juha
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients
Heliö, Krista, Cicerchia, Marcos, Hathaway, Julie, Tommiska, Johanna, Huusko, Johanna, Saarinen, Inka, Koskinen, Lotta, Muona, Mikko, Kytölä, Ville, Djupsjöbacka, Janica, Gentile, Massimiliano, Salmenperä, Pertteli, Alastalo, Tero-Pekka, Steinberg, Christian, Heliö, Tiina, Paananen, Jussi, Myllykangas, Samuel, Koskenvuo, Juha
Published in Frontiers in cardiovascular medicine (19.09.2023)
Published in Frontiers in cardiovascular medicine (19.09.2023)
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Journal Article
P465: The occurrence of noncoding variants, copy number variants and variants in difficult-to-sequence genes in over 10,000 whole exome sequencing tests
Gall, Kimberly, Hathaway, Julie, Howell, Victoria, Scocchia, Alicia, Sluyters, Allison, Saarinen, Inka, Kangas-Kontio, Tiia, Kaare, Milja, Wells, Kirsty, Calvo del Castillo, Maria, Muona, Mikko, Pietila, Tuuli, Rantanen, Matias, Gentile, Massimiliano, Salmenperä, Pertelli, Paananen, Jussi, Myllykangas, Samuel, Koskenvuo, Juha
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
P487: Genetic findings from multi-gene panel for primary ciliary dyskinesia
Howell, Victoria, Huusko, Johanna, Bernal, Manuel, Faber, Allison, Valo, Satu, Gall, Kimberly, Koskinen, Lotta, Kangas-Kontio, Tiia, Saarinen, Inka, Kytölä, Ville, Siivonen, Pauli, Djupsjöbacka, Janica, Gentile, Massimiliano, Salmenperä, Pertteli, Paananen, Jussi, Myllykangas, Samuel, Koskenvuo, Juha
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
Integrated gene copy number and expression microarray analysis of gastric cancer highlights potential target genes
Myllykangas, Samuel, Junnila, Siina, Kokkola, Arto, Autio, Reija, Scheinin, Ilari, Kiviluoto, Tuula, Karjalainen‐Lindsberg, Marja‐Liisa, Hollmén, Jaakko, Knuutila, Sakari, Puolakkainen, Pauli, Monni, Outi
Published in International journal of cancer (15.08.2008)
Published in International journal of cancer (15.08.2008)
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Journal Article
Targeted sequencing library preparation by genomic DNA circularization
Myllykangas, Samuel, Natsoulis, Georges, Bell, John M, Ji, Hanlee P
Published in BMC biotechnology (14.12.2011)
Published in BMC biotechnology (14.12.2011)
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