Array Comparative Genomic Hybridisation and Droplet Digital PCR Uncover Recurrent Copy Number Variation of the TTN Segmental Duplication Region

por Sagath, Lydia, Lehtokari, Vilma-Lotta, Pelin, Katarina, Kiiski, Kirsi
Publicado 2022

A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region

por Sagath, Lydia, Lehtokari, Vilma-Lotta, Wallgren-Pettersson, Carina, Pelin, Katarina, Kiiski, Kirsi
Publicado 2022

An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders

por Sagath, Lydia, Lehtokari, Vilma-Lotta, Välipakka, Salla, Udd, Bjarne, Wallgren-Pettersson, Carina, Pelin, Katarina, Kiiski, Kirsi
Publicado 2018

Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report

por Pelin, Katarina, Sagath, Lydia, Lehtonen, Johanna, Kiiski, Kirsi, Tynninen, Olli, Paetau, Anders, Johari, Mridul, Savarese, Marco, Wallgren-Pettersson, Carina, Lehtokari, Vilma-Lotta
Publicado 2023

Copy number variation analysis increases the diagnostic yield in muscle diseases

por Välipakka, Salla, Savarese, Marco, Johari, Mridul, Sagath, Lydia, Arumilli, Meharji, Kiiski, Kirsi, Sáenz, Amets, Lopez de Munain, Adolfo, Cobo, Ana-Maria, Pelin, Katarina, Udd, Bjarne, Hackman, Peter
Publicado 2017

New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy

por Moreau-Le Lan, Sarah, Aller, Elena, Calabria, Ines, Gonzalez-Tarancon, Lola, Cardona-Gay, Cristina, Martinez-Matilla, Marina, Aparisi, Maria J., Selles, Jorge, Sagath, Lydia, Pitarch, Inmaculada, Muelas, Nuria, Cervera, Jose V., Millan, Jose M., Pedrola, Laia
Publicado 2018