Christian Gilissen
A5029378448- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Cancer Genomics and Diagnostics
- Retinal Development and Disorders
- RNA modifications and cancer
- Genetic factors in colorectal cancer
- Genomics and Phylogenetic Studies
- Immunodeficiency and Autoimmune Disorders
- CRISPR and Genetic Engineering
- Epigenetics and DNA Methylation
- Congenital heart defects research
- Genetic and Kidney Cyst Diseases
- Advanced biosensing and bioanalysis techniques
- Ubiquitin and proteasome pathways
- RNA regulation and disease
- Cystic Fibrosis Research Advances
- RNA and protein synthesis mechanisms
- Genomics and Chromatin Dynamics
- Genetic Syndromes and Imprinting
- Mitochondrial Function and Pathology
- Chromosomal and Genetic Variations
- Renal and related cancers
- Cancer-related gene regulation
- Mesenchymal stem cell research
Radboud University Nijmegen
2016-2025
Radboud University Medical Center
2016-2025
Radboud Institute for Molecular Life Sciences
2015-2024
University Medical Center
2015-2024
University of Wisconsin–Madison
2023
Maastricht University
2022
Mayo Clinic in Florida
2020
Brigham and Women's Hospital
2018
Harvard University
2018
Institute for Information Transmission Problems
2018
The causes of intellectual disability remain largely unknown because extensive clinical and genetic heterogeneity.
Severe coronavirus disease 2019 (COVID-19) can occur in younger, predominantly male, patients without preexisting medical conditions. Some individuals may have primary immunodeficiencies that predispose to severe infections caused by acute respiratory syndrome 2 (SARS-CoV-2).To explore the presence of genetic variants associated with among young COVID-19.Case series pairs brothers history meeting selection criteria (age <35 years) brother admitted intensive care unit (ICU) due COVID-19. Four...
Chronic mucocutaneous candidiasis (CMC) is characterized by susceptibility to candida infection of skin, nails, and mucous membranes. Patients with recessive CMC autoimmunity have mutations in the autoimmune regulator AIRE. The cause autosomal dominant unknown.We evaluated 14 patients from five families CMC. We incubated their peripheral-blood mononuclear cells different combinations stimuli test integrity pathways that mediate immunity, which led selection 100 genes were most likely contain...
It is commonly thought that human genetic diversity in non-African populations was shaped primarily by an out-of-Africa dispersal 50–100 thousand yr ago (kya). Here, we present a study of 456 geographically diverse high-coverage Y chromosome sequences, including 299 newly reported samples. Applying ancient DNA calibration, date the Y-chromosomal most recent common ancestor (MRCA) Africa at 254 (95% CI 192–307) kya and detect cluster major founder haplogroups narrow time interval 47–52 kya,...
Numerous new disease-gene associations have been identified by whole-exome sequencing studies in the last few years. However, many cases remain unsolved due to sheer number of candidate variants remaining after common filtering strategies such as removing low quality and those deemed unlikely be pathogenic. The observation that each our genomes contains about 100 genuine loss-of-function makes identification causative mutation problematic when using these alone. We propose wealth genotype...
The advent of massive parallel sequencing is rapidly changing the strategies employed for genetic diagnosis and research rare diseases that involve a large number genes. So far it not clear whether these approaches perform significantly better than conventional single gene testing as requested by clinicians. current yield this traditional diagnostic approach depends on complex factors include gene-specific phenotype traits, relative frequency involvement specific To gauge impact paradigm...
Molecular diagnostics for patients with retinitis pigmentosa (RP) has been hampered by extreme genetic and clinical heterogeneity, 52 causative genes known to date. Here, we developed a comprehensive next-generation sequencing (NGS) approach the molecular of RP. All inherited retinal disease (n = 111) were captured simultaneously analyzed using NGS in 100 RP without diagnosis. A systematic data analysis pipeline was validated prioritize predict pathogenicity all variants identified each...