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Scopus Author ID: 57201353099
Scopus Author ID: 57201353099

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Netherlands, Finland

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Employment (3)

Radboud Universitair Medisch Centrum: Nijmegen, NL

2023-04 to present | Postdoctoral Researcher (Department of Human Genetics)
Employment
Source: Self-asserted source
Lydia Sagath

Folkhälsan Research Center: Helsinki, FI

2016-01-01 to 2023-03-31 | Doctoral researcher (Department of Medical and Clinical Genetics)
Employment
Source: Self-asserted source
Lydia Sagath

University of California San Diego: La Jolla, CA, US

2019-10 to 2020-03-01 | ASLA-Fulbright Pre-doctoral Fellow
Employment
Source: Self-asserted source
Lydia Sagath

Education and qualifications (3)

University of Helsinki: Helsinki, FI

2016-01-01 to present | PhD (Department of Biosciences)
Education
Source: Self-asserted source
Lydia Sagath

University of Helsinki: Helsinki, FI

2022-06-30
Education
Source: check_circle
University of Helsinki

University of Helsinki: Helsinki, FI

2012-06-01 to 2016-03-15 | MSc (Department of Biosciences)
Education
Source: Self-asserted source
Lydia Sagath

Funding (1)

The Pathological Mechanisms of Cullin-3 and YBX3

2019-10-01 to 2020-03-01 | Grant
Council for International Exchange of Scholars (Washington D.C., US)
URL: https://app.dimensions.ai/details/grant/grant.8714686
GRANT_NUMBER: f55355858000b0a74b2223a6a263fc02
Source: Self-asserted source
Lydia Sagath via DimensionsWizard

Works (16)

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

Neuromuscular Disorders
2024 | Journal article
DOI: 10.1016/j.nmd.2023.11.009
EID:

2-s2.0-85180564979

Part of ISSN: 18732364 09608966
Contributors: Lehtokari, V.-L.; Sagath, L.; Davis, M.; Ho, D.; Kiiski, K.; Kettunen, K.; Demczko, M.; Stein, R.; Vatta, M.; Winder, T.L. et al.
Source: Self-asserted source
Lydia Sagath via Scopus - Elsevier
grade
Preferred source (of 2)‎

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

medRxiv
2024 | Other
DOI: 10.1101/2024.05.03.24305331
EID:

2-s2.0-85197090527
Contributors: Steyaert, W.; Sagath, L.; Demidov, G.; Yépez, V.A.; Esteve-Codina, A.; Gagneur, J.; Ellwanger, K.; Derks, R.; Weiss, M.; den Ouden, A. et al.
Source: Self-asserted source
Lydia Sagath via Scopus - Elsevier
grade
Preferred source (of 2)‎

Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions

2024-10-04 | Preprint
DOI: 10.1101/2024.10.04.24313542
Contributors: Lydia Sagath; Kirsi Kiiski; Kireshnee Naidu; Krutik Patel; Per Harald Jonson; Milla Laarne; Djurdja Djordjevic; Grace Yoon; Anna LaGroon; Curtis Rogers et al.
Source: check_circle
Crossref

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
2023 | Journal article
DOI: 10.3233/JND-230026
EID:

2-s2.0-85170581934

Part of ISSN: 22143602 22143599
Contributors: Pelin, K.; Sagath, L.; Lehtonen, J.; Kiiski, K.; Tynninen, O.; Paetau, A.; Johari, M.; Savarese, M.; Wallgren-Pettersson, C.; Lehtokari, V.-L.
Source: Self-asserted source
Lydia Sagath via Scopus - Elsevier
grade
Preferred source (of 2)‎

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

PLoS ONE
2022 | Journal article
DOI: 10.1371/journal.pone.0267793
EID:

2-s2.0-85130021520

Part of ISSN: 19326203
Contributors: Sagath, L.; Lehtokari, V.-L.; Wallgren-Pettersson, C.; Pelin, K.; Kiiski, K.
Source: Self-asserted source
Lydia Sagath via Scopus - Elsevier
grade
Preferred source (of 3)‎

Array Comparative Genomic Hybridisation and Droplet Digital PCR uncover recurrent copy number variation of the titin segmental duplication region

medRxiv
2022 | Other
DOI: 10.1101/2022.03.16.22272470
EID:

2-s2.0-85129407356
Contributors: Sagath, L.; Lehtokari, V.-L.; Pelin, K.; Kiiski, K.
Source: Self-asserted source
Lydia Sagath via Scopus - Elsevier
grade
Preferred source (of 2)‎

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

Genes
2022 | Journal article
DOI: 10.3390/genes13050905
EID:

2-s2.0-85131021648

Part of ISSN: 20734425
Contributors: Sagath, L.; Lehtokari, V.-L.; Pelin, K.; Kiiski, K.
Source: Self-asserted source
Lydia Sagath via Scopus - Elsevier
grade
Preferred source (of 4)‎

Copy number variants in genes causing neuromuscular disorders

2022 | Dissertation or Thesis | Author
SOURCE-WORK-ID:

98fb9c97-315f-4fff-a9cb-806f51b0e3c6

ISBN: 978-951-51-8202-9
ISBN: 978-951-51-8201-2
Contributors: Lydia Sagath
Source: check_circle
University of Helsinki

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

Neuromuscular Disorders
2021 | Journal article
DOI: 10.1016/j.nmd.2021.03.006
EID:

2-s2.0-85104974943

Part of ISSN: 18732364 09608966
Contributors: Sagath, L.; Lehtokari, V.-L.; Välipakka, S.; Vihola, A.; Gardberg, M.; Hackman, P.; Pelin, K.; Jokela, M.; Kiiski, K.; Udd, B. et al.
Source: Self-asserted source
Lydia Sagath via Scopus - Elsevier
grade
Preferred source (of 2)‎

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

Journal of Molecular Diagnostics
2020 | Journal article
DOI: 10.1016/j.jmoldx.2019.08.009
EID:

2-s2.0-85076243248

Part of ISSN: 19437811 15251578
Contributors: Välipakka, S.; Savarese, M.; Sagath, L.; Arumilli, M.; Giugliano, T.; Udd, B.; Hackman, P.
Source: Self-asserted source
Lydia Sagath via Scopus - Elsevier

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

Muscle and Nerve
2019 | Journal article
DOI: 10.1002/mus.26350
EID:

2-s2.0-85056404416

Part of ISSN: 10974598 0148639X
Contributors: Laitila, J.; Lehtonen, J.; Lehtokari, V.-L.; Sagath, L.; Wallgren-Pettersson, C.; Grönholm, M.; Pelin, K.
Source: Self-asserted source
Lydia Sagath via Scopus - Elsevier
grade
Preferred source (of 2)‎

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

Neuromuscular Disorders
2019 | Journal article
DOI: 10.1016/j.nmd.2018.12.007
EID:

2-s2.0-85060197885

Part of ISSN: 18732364 09608966
Contributors: Kiiski, K.J.; Lehtokari, V.-L.; Vihola, A.K.; Laitila, J.M.; Huovinen, S.; Sagath, L.J.; Evilä, A.E.; Paetau, A.E.; Sewry, C.A.; Hackman, P.B. et al.
Source: Self-asserted source
Lydia Sagath via Scopus - Elsevier
grade
Preferred source (of 2)‎

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

Journal of Neuromuscular Diseases
2018 | Journal article
DOI: 10.3233/JND-170298
EID:

2-s2.0-85051360238

Part of ISSN: 22143602 22143599
Contributors: Sagath, L.; Lehtokari, V.-L.; Välipakka, S.; Udd, B.; Wallgren-Pettersson, C.; Pelin, K.; Kiiski, K.
Source: Self-asserted source
Lydia Sagath via Scopus - Elsevier
grade
Preferred source (of 3)‎

New mutations found by next-generation sequencing screening of Spanish patients with Nemaline myopathy

PLoS ONE
2018 | Journal article
DOI: 10.1371/journal.pone.0207296
EID:

2-s2.0-85058013353

Part of ISSN: 19326203
Contributors: Moreau-Le Lan, S.; Aller, E.; Calabria, I.; Gonzalez-Tarancon, L.; Cardona-Gay, C.; Martinez-Matilla, M.; Aparisi, M.J.; Selles, J.; Sagath, L.; Pitarch, I. et al.
Source: Self-asserted source
Lydia Sagath via Scopus - Elsevier
grade
Preferred source (of 3)‎

Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies

European Journal of Neurology
2018 | Journal article
DOI: 10.1111/ene.13607
EID:

2-s2.0-85044433098

Part of ISSN: 14681331 13515101
Contributors: Nilipour, Y.; Nafissi, S.; Tjust, A.E.; Ravenscroft, G.; Hossein Nejad Nedai, H.; Taylor, R.L.; Varasteh, V.; Pedrosa Domellöf, F.; Zangi, M.; Tonekaboni, S.H. et al.
Source: Self-asserted source
Lydia Sagath via Scopus - Elsevier
grade
Preferred source (of 2)‎

Copy number variation analysis increases the diagnostic yield in muscle diseases

Neurology Genetics
2017 | Journal article
DOI: 10.1212/nxg.0000000000000204
Part of ISSN: 2376-7839
Contributors: Salla Välipakka; Marco Savarese; Mridul Johari; Lydia Sagath; Meharji Arumilli; Kirsi Kiiski; Amets Sáenz; Adolfo Lopez de Munain; Ana-Maria Cobo; Katarina Pelin et al.
Source: Self-asserted source
Lydia Sagath via Crossref Metadata Search
grade
Preferred source (of 2)‎

Peer review (4 reviews for 2 publications/grants)

Review activity for European journal of human genetics (3)
Review activity for Molecular diagnosis & therapy. (1)
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