Christian Gilissen

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Professor of Genome Bioinformatics

Universitair Medisch Centrum Utrecht

Netherlands

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Recent Grants

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Veni

Open Date: 2014-01-01

Close Date: 2017-01-01

Articles (11)

Year:

2024

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2023

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2023

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2023

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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

Collaborators (12)

Meena Balasubramanian

University of Sheffield

UNITED KINGDOM

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Roly Megaw

Clinical Lecturer

University of Edinburgh

UNITED KINGDOM

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Merel Post

Radboud University Medical Center

NETHERLANDS

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Richarda M de Voer

Assistant professor

Radboudumc

NETHERLANDS

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Birte Zurek, PhD

University Hospital Tübingen

GERMANY

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Alex Garanto

Assistant Professor & Junior Principal Investigator

Radboudumc

NETHERLANDS

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Joris A. Veltman

UNITED KINGDOM

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Marek Turnovec

University Hospital in Motol

CZECH REPUBLIC

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Suzanne E. de Bruijn

Radboud University Medical Center

NETHERLANDS

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Erwin Brosens

Erasmus University Rotterdam

NETHERLANDS

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Catherina Li

Radboud University Medical Center

NETHERLANDS

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Jamie Ellingford

The University of Manchester

UNITED KINGDOM

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Christian Gilissen

Research Interests

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Recent Grants

Articles (11)

Detection of DNA Contamination in Prenatal Samples from Whole Exome Sequencing Data

Combined Single Gene Testing and Genome Sequencing as an Effective Diagnostic Approach for Anophthalmia and Microphthalmia Patients

Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies

A Comprehensive Assay for Resolving Repeat Expansions to the Base Pair

De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders

Recommendations for whole genome sequencing in diagnostics for rare diseases

BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa

The Predicted Splicing Variant c.11+5G>A in <i>RPE65</i> Leads to a Reduction in mRNA Expression in a Cell-Specific Manner

Clinical exome sequencing—Mistakes and caveats

Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disorders

Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Collaborators (12)

Meena Balasubramanian

Roly Megaw

Merel Post

Richarda M de Voer

Birte Zurek, PhD

Alex Garanto

Joris A. Veltman

Marek Turnovec

Suzanne E. de Bruijn

Erwin Brosens

Catherina Li

Jamie Ellingford

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