Frank Kooy

Professor

University of Antwerp

Belgium

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Professor Frank Kooy is a faculty member at Universiteit Antwerpen, Belgium. His research areas include neurodevelopmental disorders, genetic mutations, and the implications of telomere length in leukocytes. Recent publications highlight his work on conditions such as Helsmoortel–Van der Aa syndrome and Fragile X Syndrome, as well as the prevalence of comorbidities in pediatric populations with neurodevelopmental disorders.

Frank Kooy

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Articles (22)

Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian Population

From Discovery to Innovative Translational Approaches in 80 Years of Fragile X Syndrome Research

Stress and telomere length in leukocytes: Investigating the role of GABRA6 gene polymorphism and cortisol

Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel–Van der Aa syndrome

Identification of a DLG3 stop mutation in the MRX20 family

ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel–Van der Aa syndrome autopsy case

Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals (European Journal of Human Genetics, (2024), 32, 8, (928-937), 10.1038/s41431-024-01610-1)

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals

Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

ADNP in reverse gear

Mouse models of fragile X-related disorders

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on <i>FMR1</i> Premutation

Unravelling the link between neurodevelopmental disorders and short tandem CGG-repeat expansions

Non-Mendelian inheritance patterns and extreme deviation rates of CGG repeats in autism

Expanding the Phenotype of B3GALNT2-Related Disorders

Towards Kinase Inhibitor Therapies for Fragile X Syndrome: Tweaking Twists in the Autism Spectrum Kinase Signaling Network

ZNF711 puts a spell on DNA

Therapeutic potential of GABAA receptor subunit expression abnormalities in fragile X syndrome

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

De novo mutations, genetic mosaicism and human disease

Collaborators (19)

Kimberly Foss

Dejan Budimirovic

Kathelijn Keymolen

Sandrine PASSEMARD

Christiane Zweier

Peng Jin

Marc Buehler

Tugce Balci

Frédéric Tran Mau‐Them

Peter Todd

Joe Ibrahim

B. Callewaert

Danita Velasco

David Hessl

Michael Zimmermann

Wim Vanden Berghe

Amélie Piton

Marie-Anne Vanderhasselt

Flora Tassone

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