Lydia Sagath
10PUBLICATIONS
76CO-AUTHORS
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Publications (10)
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|Apr 10, 2026
A 5' UTR CCG expansion in TBC1D7 causes oculopharyngodistal myopathy.Liedewei Van de Vondel, Riccardo Curro, Stefano Facchini
|Jun 14, 2025
Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.Lydia Sagath, Kirsi Kiiski, Kireshnee Naidu
|May 21, 2025
A homozygous single-nucleotide variant in TNNT1 causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case report.Milla Laarne, Ali Oghabian, Jenni Laitila
|Mar 26, 2025
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.Wouter Steyaert, Lydia Sagath, German Demidov
|Jan 13, 2025
Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.Lydia Sagath, Kirsi Kiiski, Kireshnee Naidu
|May 15, 2024
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.Wouter Steyaert, Lydia Sagath, German Demidov
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Frequent Collaborators
4 joint publications
Marco Savarese
4 joint publications
Vilma-Lotta Lehtokari
4 joint publications
Katarina Pelin
3 joint publications
Milla Laarne
3 joint publications
Kirsi Kiiski
2 joint publications
Volker Straub
2 joint publications
Wouter Steyaert
2 joint publications
Enrico Bugiardini
2 joint publications
Matthis Synofzik
2 joint publications
Julien Gagneur
