Lydia Sagath

Affiliations

Folkhälsan Research Center, Helsinki, Finland; Department of Medical Genetics, Medicum, University of Helsinki, Finland. Electronic address: lydia.sagath@helsinki.fi.

Publications (8)

Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin.

Neuromuscular disorders : NMD

Avec: Lydia Sagath , Vilma-Lotta Lehtokari , Salla Välipakka , Anna Vihola , Maria Gardberg , Peter Hackman , Katarina Pelin , Manu Jokela , Kirsi Kiiski , Bjarne Udd , Carina Wallgren-Pettersson

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.

Journal of neuromuscular diseases

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

Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.

medRxiv : the preprint server for health sciences

Avec: Wouter Steyaert , Lydia Sagath , German Demidov , Vicente A Yépez , Anna Esteve-Codina , Julien Gagneur , Kornelia Ellwanger , Ronny Derks , Marjan Weiss , Amber den Ouden , Simone van den Heuvel , Hilde Swinkels , Nick Zomer , Marloes Steehouwer , Luke O'Gorman , Galuh Astuti , Kornelia Neveling , Rebecca Schüle , Jishu Xu , Matthis Synofzik , Danique Beijer , Holger Hengel , Ludger Schöls , Kristl G Claeys , Jonathan Baets , Liedewei Van de Vondel , Alessandra Ferlini , Rita Selvatici , Heba Morsy , Marwa Saeed Abd Elmaksoud , Volker Straub , Juliane Müller , Veronica Pini , Luke Perry , Anna Sarkozy , Irina Zaharieva , Francesco Muntoni , Enrico Bugiardini , Kiran Polavarapu , Rita Horvath , Evan Reid , Hanns Lochmüller , Marco Spinazzi , Marco Savarese , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Leslie Matalonga , Steven Laurie , Han G Brunner , Holm Graessner , Sergi Beltran , Stephan Ossowski , Lisenka E L M Vissers , Christian Gilissen , Alexander Hoischen

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

The Journal of molecular diagnostics : JMD

Avec: Salla Välipakka , Marco Savarese , Lydia Sagath , Meharji Arumilli , Teresa Giugliano , Bjarne Udd , Peter Hackman

Array Comparative Genomic Hybridisation and Droplet Digital PCR Uncover Recurrent Copy Number Variation of the

Genes

Avec: Lydia Sagath , Vilma-Lotta Lehtokari , Katarina Pelin , Kirsi Kiiski

A nebulin super-repeat panel reveals stronger actin binding toward the ends of the super-repeat region.

Muscle & nerve

Avec: Jenni Laitila , Johanna Lehtonen , Vilma-Lotta Lehtokari , Lydia Sagath , Carina Wallgren-Pettersson , Mikaela Grönholm , Katarina Pelin

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

PloS one

Avec: Lydia Sagath , Vilma-Lotta Lehtokari , Carina Wallgren-Pettersson , Katarina Pelin , Kirsi Kiiski

A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy.

Neuromuscular disorders : NMD

Avec: Vilma-Lotta Lehtokari , Lydia Sagath , Mark Davis , Desiree Ho , Kirsi Kiiski , Kaisa Kettunen , Matthew Demczko , Riki Stein , Matteo Vatta , Thomas L Winder , Adi Shohet , Naama Orenstein , Peter Krcho , Peter Bohuš , Sanna Huovinen , Bjarne Udd , Katarina Pelin , Nigel G Laing , Carina Wallgren-Pettersson

Réseau de co-auteurs

Vilma-Lotta Lehtokari 6 collaborations

Katarina Pelin 6 collaborations

Kirsi Kiiski 5 collaborations

Carina Wallgren-Pettersson 5 collaborations

None None 4 collaborations

Bjarne Udd 3 collaborations

Marco Savarese 3 collaborations

Salla Välipakka 2 collaborations

Peter Hackman 2 collaborations

Johanna Lehtonen 2 collaborations

Anna Vihola 1 collaboration

Maria Gardberg 1 collaboration

Manu Jokela 1 collaboration

Olli Tynninen 1 collaboration

Anders Paetau 1 collaboration

Mridul Johari 1 collaboration

Wouter Steyaert 1 collaboration

German Demidov 1 collaboration

Vicente A Yépez 1 collaboration

Anna Esteve-Codina 1 collaboration

Julien Gagneur 1 collaboration

Kornelia Ellwanger 1 collaboration

Ronny Derks 1 collaboration

Marjan Weiss 1 collaboration

Amber den Ouden 1 collaboration

Simone van den Heuvel 1 collaboration

Hilde Swinkels 1 collaboration

Nick Zomer 1 collaboration

Marloes Steehouwer 1 collaboration

Luke O'Gorman 1 collaboration

Galuh Astuti 1 collaboration

Kornelia Neveling 1 collaboration

Rebecca Schüle 1 collaboration

Jishu Xu 1 collaboration

Matthis Synofzik 1 collaboration

Danique Beijer 1 collaboration

Holger Hengel 1 collaboration

Ludger Schöls 1 collaboration

Kristl G Claeys 1 collaboration

Jonathan Baets 1 collaboration

Liedewei Van de Vondel 1 collaboration

Alessandra Ferlini 1 collaboration

Rita Selvatici 1 collaboration

Heba Morsy 1 collaboration

Marwa Saeed Abd Elmaksoud 1 collaboration

Volker Straub 1 collaboration

Juliane Müller 1 collaboration

Veronica Pini 1 collaboration

Luke Perry 1 collaboration

Anna Sarkozy 1 collaboration

Irina Zaharieva 1 collaboration

Francesco Muntoni 1 collaboration

Enrico Bugiardini 1 collaboration

Kiran Polavarapu 1 collaboration

Rita Horvath 1 collaboration

Evan Reid 1 collaboration

Hanns Lochmüller 1 collaboration

Marco Spinazzi 1 collaboration

Leslie Matalonga 1 collaboration

Steven Laurie 1 collaboration

Han G Brunner 1 collaboration

Holm Graessner 1 collaboration

Sergi Beltran 1 collaboration

Stephan Ossowski 1 collaboration

Lisenka E L M Vissers 1 collaboration

Christian Gilissen 1 collaboration

Alexander Hoischen 1 collaboration

Meharji Arumilli 1 collaboration

Teresa Giugliano 1 collaboration

Jenni Laitila 1 collaboration

Mikaela Grönholm 1 collaboration

Mark Davis 1 collaboration

Desiree Ho 1 collaboration

Kaisa Kettunen 1 collaboration

Matthew Demczko 1 collaboration

Riki Stein 1 collaboration

Matteo Vatta 1 collaboration

Thomas L Winder 1 collaboration

Adi Shohet 1 collaboration

Naama Orenstein 1 collaboration

Peter Krcho 1 collaboration

Peter Bohuš 1 collaboration

Sanna Huovinen 1 collaboration

Nigel G Laing 1 collaboration