Joakim Klar

Uppsala University

Sweden

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Articles (9)

Year:

2022

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2022

Year:

2022

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2022

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2021

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2020

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2020

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2020

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2020

Collaborators (3)

Mansoureh Shahsavani

Karolinska University Hospital

SWEDEN

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Bryndis Birnir

Professor of Physiology (Chair)

Uppsala University

SWEDEN

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Niklas Dahl

Professor and Senior consultant in Clinical Genetics

Uppsala University

SWEDEN

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Joakim Klar

Research Interests

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Articles (9)

Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.

Inflammation and Interferon Signatures in Peripheral B-Lymphocytes and Sera of Individuals With Fibromyalgia

Cohort profile: the Swedish study of SUDden cardiac Death in the Young (SUDDY) 2000-2010: a complete nationwide cohort of SCDs.

Generation of a human iPSC line (UUIGPi015-A) from a patient with Dravet syndrome and a 2.9 Mb deletion spanning SCN1A on chromosome 2.

Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.

Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.

Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele.

DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors.

Collaborators (3)

Mansoureh Shahsavani

Bryndis Birnir

Niklas Dahl

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