Elsebet Østergaard

Associate Professor, PhD

University of Copenhagen

Denmark

Research Interests

Explore related searches

Professors in Medical Science

Contact this professor

Get a free first email built on one of their papers, ready for you to edit and send yourself.

About

Elsebet Østergaard is an Associate Professor at the University of Copenhagen, Denmark. Her research areas include the genetic foundations of neurodevelopmental disorders, mitochondrial dysfunction, and the implications of chaperone deficiencies. She has contributed significantly to the understanding of disorders such as Mowat-Wilson syndrome and Charcot-Marie-Tooth disease through her recent publications.

Articles (19)

Year:

2024

Year:

2024

Year:

2024

Year:

2024

Year:

2024

Year:

2024

Year:

2024

Year:

2024

Year:

2023

Year:

2023

Year:

2023

Year:

2023

Year:

2023

Year:

2023

Year:

2023

Year:

2022

Year:

2022

Year:

2022

Year:

2022

Collaborators (25)

Siegfried Reipert

Universität Wien

AUSTRIA

Elsebet Østergaard

Research Interests

Explore related searches

Contact this professor

About

Articles (19)

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases

Prenatal dispositions and genetic analysis of monozygotic female twins with suprasellar cysts and hydrocephalus: A case report

HSP60 chaperone deficiency disrupts the mitochondrial matrix proteome and dysregulates cholesterol synthesis

mTORC1 hampers Hedgehog signaling in<i>Tsc2</i>deficient cells

Novel <i>Alu</i> insertion in the <scp><i>ZEB2</i></scp> gene causing <scp>Mowat‐Wilson</scp> syndrome

Status epilepticus in POLG disease: a large multinational study

The role of pathogenic TCF12 variants in children with coronal craniosynostosis—a systematic review with addition of two novel cases

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

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

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

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

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

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

The postgraduate medical educational climate assessed by the Danish Residency Educational Climate Test (DK-RECT)

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

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

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

Renal Phenotype in Mitochondrial Diseases: A Multicenter Study.

Collaborators (25)

Siegfried Reipert

Marianne Hørby Jørgensen

Pilar Rodríguez-Pombo

María Palomares-Bralo

Cristina Dallabona

Marianne Juhler

M. E. Suzanne Lewis

Seyed Mehdi Jafarnejad

Tugce Balci

Chris Mühlhausen

Fabrizia Cesca

Tom Fowler

Sumudu Amarasekera

Peter Bross

Ralf A. Husain

Karen Gripp

Yonglun Luo

Sheng-Jia Lin

Eline van der Sluijs

Siddharth Banka

Jozef Gecz

Kasper Kjær-Sørensen

Teresa Iglesias

Nicole Lake

Jette Led Sørensen

Make your next move.