Magnus Nordenskjöld

Professor of Clinical Genetics

Karolinska Institutet

Sweden

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Articles (10)

A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population

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Year:

2022

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

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Year:

2021

An integrative proteomics method identifies a regulator of translation during stem cell maintenance and differentiation.

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Year:

2021

Cell-free tumour DNA analysis detects copy number alterations in gastro-oesophageal cancer patients

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Year:

2021

Kostmann disease and other forms of severe congenital neutropenia

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Year:

2021

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

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Year:

2021

Severe congenital neutropenia-associated JAGN1 mutations unleash a calpain-dependent cell death programme in myeloid cells

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Year:

2021

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (Nature Communications, (2020), 11, 1, (4932), 10.1038/s41467-020-18723-y)

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Year:

2020

Chromatin interactions in differentiating keratinocytes reveal novel atopic dermatitis- and psoriasis-associated genes.

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Year:

2020

Diagnostic challenges for a novel SH2D1A mutation associated with X-linked lymphoproliferative disease

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Year:

2020

Collaborators (18)

Chang Kim

University of California, San Francisco

UNITED STATES

Arvis Sulovari

Principal Scientist

UNITED STATES

Anders Jemt

KTH Royal Institute of Technology

SWEDEN

Ankit Srivastava

Karolinska Institutet

SWEDEN

Sergey Rodin

Uppsala University

SWEDEN

Karl-Henrik Grinnemo

Professor

Uppsala Universitet Medicinska fakulteten

SWEDEN

Jodie Vento

University of Pittsburgh

UNITED STATES

Maria Johansson Soller

Karolinska Institutet

SWEDEN

Christian Michel Beusch

Karolinska Institutet

SWEDEN

AnnaCarin Horne

Karolinska Institutet

SWEDEN

Vincent Millischer

Karolinska Institutet

SWEDEN

Amirata Saei

Karolinska Institutet

SWEDEN

Rolf Zetterström

Karolinska Institutet

SWEDEN

Isabel Tapia-Paez

Karolinska Institutet

SWEDEN

Marie Meeths

Karolinska Institutet

SWEDEN

Heinrich Schlums

Karolinska University Hospital

SWEDEN

Daniel Nilsson

Karolinska Institutet

SWEDEN

Miroslava Hancarova

Charles University

CZECH REPUBLIC

Magnus Nordenskjöld

Research Interests

Explore related searches

Contact this professor

Articles (10)

A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

An integrative proteomics method identifies a regulator of translation during stem cell maintenance and differentiation.

Cell-free tumour DNA analysis detects copy number alterations in gastro-oesophageal cancer patients

Kostmann disease and other forms of severe congenital neutropenia

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Severe congenital neutropenia-associated JAGN1 mutations unleash a calpain-dependent cell death programme in myeloid cells

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (Nature Communications, (2020), 11, 1, (4932), 10.1038/s41467-020-18723-y)

Chromatin interactions in differentiating keratinocytes reveal novel atopic dermatitis- and psoriasis-associated genes.

Diagnostic challenges for a novel SH2D1A mutation associated with X-linked lymphoproliferative disease

Collaborators (18)

Chang Kim

Arvis Sulovari

Anders Jemt

Ankit Srivastava

Sergey Rodin

Karl-Henrik Grinnemo

Jodie Vento

Maria Johansson Soller

Christian Michel Beusch

AnnaCarin Horne

Vincent Millischer

Amirata Saei

Rolf Zetterström

Isabel Tapia-Paez

Marie Meeths

Heinrich Schlums

Daniel Nilsson

Miroslava Hancarova

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