Elsebet Østergaard at University of Copenhagen - Research Interests, Publications & Academic Profile

Elsebet Østergaard

Associate Professor, PhD

University of Copenhagen

Denmark

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Research Interests

Biochemistry

40%

Cell Biology

40%

Medical Science

60%

Metabolic Biology

40%

Mitochondrial Disease

30%

Osteogenesis Imperfecta

20%

Exome Sequencing

20%

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Articles10

Clinical, neuroradiological and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder

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Year:

2023

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.

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Year:

2023

Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.

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Year:

2023

Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy.

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Year:

2023

Microvillus Inclusion Disease Caused by <i>MYO5B</i>: Different Presentation and Phenotypes Despite Same Mutation.

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Year:

2023

Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.

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Year:

2023

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

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Year:

2022

Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.

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Year:

2022

Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.

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Year:

2022

Renal Phenotype in Mitochondrial Diseases: A Multicenter Study.

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Year:

2022

Collaborators13

Siegfried Reipert

Universität Wien

AUSTRIA

Marianne Hørby Jørgensen

Copenhagen University Hospital

DENMARK

Pilar Rodríguez-Pombo

Universidad Autónoma de Madrid

SPAIN

María Palomares-Bralo

Associate professor

Universidad Rey Juan Carlos - Campus de Fuenlabrada

SPAIN

Cristina Dallabona

University of Parma

ITALY

M. E. Suzanne Lewis

CANADA

Seyed Mehdi Jafarnejad

The Queen's University Belfast

UNITED KINGDOM

Tugce Balci

Assistant Professor

Western University

CANADA

Chris Mühlhausen

Vice Director and Professor of Pediatrics

Universitätsmedizin Göttingen

GERMANY

Karen Gripp

Chief

Nemours Children's Health System

UNITED STATES

Eline van der Sluijs

Leiden University Medical Center

NETHERLANDS

Jozef Gecz

AUSTRALIA

Nicole Lake

Yale University

UNITED STATES

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