Katrien Stouffs

Vrije Universiteit Brussel

Belgium

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Articles (17)

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2024

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2024

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2024

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2024

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2024

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2023

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2022

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2022

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2022

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2022

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2022

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2021

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2021

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2021

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2021

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2021

Collaborators (23)

Nuno Maia

Invited associated professor

Instituto Politécnico de Leiria

PORTUGAL

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Kathelijn Keymolen

Vrije Universiteit Brussel

BELGIUM

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Anna Jansen

University of Antwerp

BELGIUM

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Lachlan De Hayr

The University of Queensland

AUSTRALIA

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Boyan Ivanov Dimitrov

Vrije Universiteit Brussel

BELGIUM

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Ellen Rijckmans

Vrije Universiteit Brussel

BELGIUM

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Mary-Louise Bonduelle

Vrije Universiteit Brussel

BELGIUM

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Katie Wilson

Assistant Professor

Memorial University of Newfoundland

CANADA

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Kim Valérie van Berkel

Vrije Universiteit Brussel

BELGIUM

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Tim Vanderhasselt

Vrije Universiteit Brussel

BELGIUM

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Ramses Forsyth

Vrije Universiteit Brussel

BELGIUM

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Karen Sermon

Vrije Universiteit Brussel

BELGIUM

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Angeliki Malliri

Professor of Cell Biology

The University of Manchester

UNITED KINGDOM

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Tom H Millard

UNITED KINGDOM

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Marius Regin

Vrije Universiteit Brussel

BELGIUM

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Florence Belva

Vrije Universiteit Brussel

BELGIUM

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Javier Corral

Professor

SPAIN

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Alexander Gheldof

Vrije Universiteit Brussel

BELGIUM

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Elisa Done

Vrije Universiteit Brussel

BELGIUM

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Robert Harvey

Professor of Pathophysiology and Associate Dean (Research)

University of the Sunshine Coast

AUSTRALIA

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Sara Seneca

Vrije Universiteit Brussel

BELGIUM

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Vincent Seutin

Full professor

University of Liege

BELGIUM

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Claudia Spits

Vrije Universiteit Brussel

BELGIUM

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Katrien Stouffs

Research Interests

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Articles (17)

Children born after assisted reproduction more commonly carry a mitochondrial genotype associating with low birthweight

Diagnostic work-up in malformations of cortical development

Further characterisation ofARX-related disorders in females due to inherited or de novo variants

Macrocephaly?

TREX-1 related Aicardi-Goutières syndrome improved by Janus kinase inhibitor

Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B

Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder

Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology

Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Loss, Gain and Altered Function of GlyR α2 Subunit Mutations in Neurodevelopmental Disorders

Malformations of cerebral development and clues from the peripheral nervous system

Molecular Dissection of Structural Variations Involved in Antithrombin Deficiency.

Novel Variant in COL4A1 Causes Extensive Prenatal Intracranial Hemorrhage and Porencephaly

De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features

Chudley-McCullough Syndrome

Functional analysis of the F337C mutation in the CLCN1 gene associated with dominant myotonia congenita reveals an alteration of the macroscopic conductance and voltage dependence

Defining the phenotypical spectrum associated with variants in TUBB2A

Collaborators (23)

Nuno Maia

Kathelijn Keymolen

Anna Jansen

Lachlan De Hayr

Boyan Ivanov Dimitrov

Ellen Rijckmans

Mary-Louise Bonduelle

Katie Wilson

Kim Valérie van Berkel

Tim Vanderhasselt

Ramses Forsyth

Karen Sermon

Angeliki Malliri

Tom H Millard

Marius Regin

Florence Belva

Javier Corral

Alexander Gheldof

Elisa Done

Robert Harvey

Sara Seneca

Vincent Seutin

Claudia Spits

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