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Lydia Sagath

10PUBLICATIONS
76CO-AUTHORS
OptometryNeurology and neuromuscular diseasesGene mappingCell and nuclear division
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Publications (10)

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|Apr 10, 2026
A 5' UTR CCG expansion in <i>TBC1D7</i> 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 <i>TNNT1</i> 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

Frequent Collaborators

4 joint publications

Marco Savarese

4 joint publications

Vilma-Lotta Lehtokari

4 joint publications

Katarina Pelin

3 joint publications

Milla Laarne

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