Lydia Sagath

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene

K. Kiiski, Vilma‐Lotta Lehtokari, Anna Vihola et al. · Neuromuscular Disorders · 2018 · 50 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Ryanodine receptor type 3 (<i><scp>RYR</scp>3</i>) as a novel gene associated with a myopathy with nemaline bodies

Yalda Nilipour, Shahriar Nafissi, Anton Tjust et al. · European Journal of Neurology · 2018 · 47 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Improving Copy Number Variant Detection from Sequencing Data with a Combination of Programs and a Predictive Model

Salla Välipakka, Marco Savarese, Lydia Sagath et al. · Journal of Molecular Diagnostics · 2019 · 30 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing

Wouter Steyaert, Lydia Sagath, German Demidov et al. · Genome Research · 2025 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Copy number variation analysis increases the diagnostic yield in muscle diseases

Salla Välipakka, Marco Savarese, Mridul Johari et al. · Neurology Genetics · 2017 · 22 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17