P626: Clinical utility of structural variant calling using breakpoint analysis method for targeted NGS gene panels by Lotta Koskinen, Margarita Andreevskaya, Mikko Muona, Tuuli Pietila, Janica Djupsjöbacka, Ville Kytölä, Kati Kämpjärvi, Samuel Myllykangas, Pertteli Salmenperä, Juha Koskenvuo, Miko Valori

Get full text

P554: A case series of 17 patients with VEXAS syndrome due to UBA1 Met41 variants by Alicia Scocchia, Allison Sluyters, Margarita Andreevskaya, Kirsi Alakurtti, Paivi Kokkonen, Kimberly Gall, Julie Hathaway, Victoria Howell, Lotta Koskinen, Janica Djupsjöbacka, Massimiliano Gentile, Pertteli Salmenperä, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo

Get full text

P622: Genetic results in a cohort of 489 patients with inherited myopathies by Kim Gall, Julie Hathaway, Lotta Koskinen, Kirsi Alakurtti, Äsa Hagström, Monica Segura, Heli Kuisma, Eija Seppala, Janica Djupsjöbacka, Mikko Muona, Tuuli Pietila, Pertteli Salmenperä, Inka Saarinen, Ray Veeraraghavan, Samuel Myllykangas, Juha Koskenvuo

Get full text

P487: Genetic findings from multi-gene panel for primary ciliary dyskinesia by Victoria Howell, Johanna Huusko, Manuel Bernal, Allison Faber, Satu Valo, Kimberly Gall, Lotta Koskinen, Tiia Kangas-Kontio, Inka Saarinen, Ville Kytölä, Pauli Siivonen, Janica Djupsjöbacka, Massimiliano Gentile, Pertteli Salmenperä, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo

Get full text

P577: Genetic findings in afor cohort of over 1,800 patients tested with a combined cardiomyopathy and arrhythmia panel* by Julie Hathaway, Johanna Huusko, Marcos Cicerchia, Saija Ahonen, Johanna Tommiska, Kim Gall, Khalida Liaquat, Victoria Howell, Allison Sluyters, Janica Djupsjöbacka, Mikko Muona, Inka Saarinen, Eija Seppala, Tiia Kangas-Kontio, Lotta Koskinen, Pertteli Salmenperä, Samuel Myllykangas, Juha Koskenvuo

Get full text

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients by Krista Heliö, Marcos Cicerchia, Julie Hathaway, Johanna Tommiska, Johanna Huusko, Inka Saarinen, Lotta Koskinen, Mikko Muona, Ville Kytölä, Janica Djupsjöbacka, Massimiliano Gentile, Pertteli Salmenperä, Tero-Pekka Alastalo, Christian Steinberg, Tiina Heliö, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo

Get full text