Stefan Barakat

Associate professor

Erasmus MC

Netherlands

Has grant

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Research Interests

Neurology

30%

Developmental Neuroscience

50%

Rare Disease

60%

Medical Science

50%

Neurodevelopmental Disorders

40%

Birth Defect

20%

Behavioral Genetics

20%

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Recent Grants

Grant: Close

SOLVE-RD Seeding grant

Open Date: 2022-01-01

Close Date: 2023-01-01

Grant: Open

ZonMw Vidi 2021

Open Date: 2022-01-01

Close Date: 2027-01-01

Grant: Close

MRace grant

Open Date: 2019-01-01

Close Date:

Grant: Close

Human Disease Model Award

Open Date: 2018-01-01

Close Date:

Grant: Close

Veni

Open Date: 2017-01-01

Close Date:

Articles10

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

Article Link

Year:

2023

Intrafamilial variability in SLC6A1-related neurodevelopmental disorders

Article Link

Year:

2023

de novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.

Article Link

Year:

2023

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.

Article Link

Year:

2023

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.

Article Link

Year:

2022

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.

Article Link

Year:

2022

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.

Article Link

Year:

2022

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Article Link

Year:

2022

Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia

Article Link

Year:

2021

Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance.

Article Link

Year:

2021

Collaborators11

Geert Geeven

Head of Bioinformatics Group

Erasmus MC

NETHERLANDS

Mieke M. van Haelst

NETHERLANDS

Sheng Chih Jin

Assistant Professor

Washington University School of Medicine

UNITED STATES

Marjo S van der Knaap

Amsterdam University Medical Centers

NETHERLANDS

Peter Andriessen

Eindhoven University of Technology

NETHERLANDS

Wan Hee Yoon

Associate Professor

Oklahoma Medical Research Foundation

UNITED STATES

Guido Rubboli

Københavns Universitet

DENMARK

Siddharth Banka

The University of Manchester

UNITED KINGDOM

Paul Marcogliese

Assistant Professor

University of Manitoba

CANADA

Ryan German

Baylor College of Medicine

UNITED STATES

Shinya Yamamoto

Assistant Professor (tenure-track)

Baylor College of Medicine

UNITED STATES

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