Lenka Noskova

Charles University

Czech Republic

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Articles (12)

Year:

2024

Year:

2023

Year:

2023

Year:

2023

Year:

2023

Year:

2023

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2022

Year:

2022

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2020

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2020

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2020

Year:

2020

Collaborators (15)

Sam Russo

Assistant Professor

The University of Texas Health Science Center at Houston John P and Katherine G McGovern Medical School

UNITED STATES

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Viktor Stranecky

Charles University in Prague

CZECH REPUBLIC

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Hana Stufkova

General University Hospital in Prague

CZECH REPUBLIC

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Masaki Fukata

教授/Professor

生理学研究所/National Institute for Physiological Sciences

JAPAN

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Jakub Sikora

assistant professor

Charles University, First Faculty of Medicine

CZECH REPUBLIC

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Alice Davidson

Professor of Molecular Genetics

University College London

UNITED KINGDOM

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David K Breslow

UNITED STATES

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Marketa Tesarova

General University Hospital in Prague

CZECH REPUBLIC

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Gregory Cooper

HudsonAlpha Institute for Biotechnology

UNITED STATES

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Hana Hartmannova

Charles University

CZECH REPUBLIC

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Matteo Rossi Sebastiano

University of Turin

ITALY

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Bernhard Bettler

Prof

University of Basel

SWITZERLAND

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Lubica Dudakova

Charles University

CZECH REPUBLIC

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Ashlyn Anderson

HudsonAlpha Institute for Biotechnology

UNITED STATES

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Pavlína Skalická

Charles University

CZECH REPUBLIC

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Lenka Noskova

Research Interests

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Articles (12)

Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy

Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome

ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

ADAM22 ethnic-specific variant reducing binding of membrane-associated guanylate kinases causes focal epilepsy and behavioural disorder

Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene

GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy.

DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing.

Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene.

Collaborators (15)

Sam Russo

Viktor Stranecky

Hana Stufkova

Masaki Fukata

Jakub Sikora

Alice Davidson

David K Breslow

Marketa Tesarova

Gregory Cooper

Hana Hartmannova

Matteo Rossi Sebastiano

Bernhard Bettler

Lubica Dudakova

Ashlyn Anderson

Pavlína Skalická

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