Christian Gilissen - Genetic Mutations

Author Information

Christian Gilissen is a renowned researcher affiliated with the Department of Human Genetics at Radboud University Medical Center, located in Nijmegen, The Netherlands. His research primarily focuses on human genetics and its implications on various medical conditions and disorders.

Research Contributions

Christian Gilissen has made significant contributions to the field of genetics, particularly in understanding genetic variations and their implications on human health. His recent publications cover a wide range of topics, including patient-derived induced pluripotent cell lines, male infertility, neuroblastoma, differentiated thyroid carcinoma, and the genetic etiology of hereditary gastrointestinal tumor syndromes. Notably, he has also explored clinical exome sequencing and its potential pitfalls, the impact of de novo mutations in children born after medical assisted reproduction, and innovative sequencing approaches for macular diseases.

Aliases

Christian Gilissen is also known by several aliases, including C Gilissen, C. Gilissen, and C.f.h.a. Gilissen.

Publication and Citation Metrics

Metric	Value
Citation Count	20,352
H-Index	75
Paper Count	320

Publications:

Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65.

DOI: 10.1016/j.scr.2022.102689

Year: 2022

A de novo paradigm for male infertility

DOI: 10.1038/s41467-021-27132-8

Year: 2022

A Common Genomic Denominator for Neuroblastoma and Differentiated Thyroid Carcinoma? A Case Series in Children.

DOI: 10.1016/j.clon.2022.03.016

Year: 2022

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

DOI: 10.1016/j.gim.2022.02.014

Year: 2022

Clinical exome sequencing - mistakes and caveats.

DOI: 10.1002/humu.24360

Year: 2022

De novo mutations in children born after medical assisted reproduction.

DOI: 10.1093/humrep/deac068

Year: 2022

Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.

DOI: 10.1101/2022.03.17.22272534

Year: 2022

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

DOI: 10.1101/2022.03.19.22272594

Year: 2022

Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour within the project Solve-RD.

DOI: 10.1016/j.ejmg.2022.104475

Year: 2022

Long-read technologies identify a hidden inverted duplication in a family with choroideremia

DOI: 10.1016/j.xhgg.2021.100046

Year: 2021

Why is Karyotyping Important in the Context of Genetic Mutations?

Where Do Neutral Mutations Typically Occur?

What is Transversion?

How Does Sanger Sequencing Work?

What Are the Ethical Considerations for CRISPR Technology?

How is Sickle Cell Disease Diagnosed?

How are Harmful Mutations Detected?

How Does UV Radiation Cause Genetic Mutations?

What are Current Research Trends in Genetic Mutations?

What are some examples of inherited genetic disorders?

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