Stefan Barakat

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Associate professor

Erasmus MC

Netherlands

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About

Stefan Barakat is an Associate Professor at Erasmus MC in the Netherlands. His research focuses on genomic diagnostics, neurodevelopmental disorders, and RNA-based analyses, as evidenced by his recent publications on splicing variants, neurodevelopmental syndrome mechanisms, and DNA methylation signatures. He has contributed significantly to understanding genetic alterations related to conditions such as Williams-Beuren syndrome and Treacher Collins syndrome.

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:

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2021

Collaborators (18)

Orrin Devinsky

Professor of Neurosurgery, Psychiatry, and Neurology

NYU School of Medicine

UNITED STATES

Stefan Barakat

Research Interests

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About

Recent Grants

Articles (20)

Targeted plasma proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders

Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder

Cyclical Vomiting Syndrome in Individuals With BPTF Haploinsufficiency

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.

Heterozygous alterations of GTF2I at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorder

A clinical and genotype-phenotype analysis of MACF1 variants.

Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome

Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders.

KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.

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

Intrafamilial variability in SLC6A1-related neurodevelopmental disorders

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

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.

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

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

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

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

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

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

Collaborators (18)

Orrin Devinsky

Geert Geeven

Mieke M. van Haelst

Sheng Chih Jin

Marjo S van der Knaap

Leslie Sanderson

Peter Andriessen

Eskeatnaf Mulugeta

Ralf A. Husain

Wan Hee Yoon

Venkata Hemanjani Bhavana

David J. Amor

Guido Rubboli

Siddharth Banka

Paul Marcogliese

Ryan German

Devesh Pant

Shinya Yamamoto

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