LV
Lisenka Vissers
Radboud University Medical Center
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · Genomics and Rare Diseases · Genetics and Neurodevelopmental Disorders · Genomic variations and chromosomal abnormalities
0000-0001-6470-5497
Employment
Education
Education history is unavailable.
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Projects & funding information is unavailable.
Publications (98)
- Optimizing Genetic Analyses for Movement Disorders: A Unified Panel Approach and Targeted Reanalysis of 4,046 Clinical Exomes Save
- Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder Save
- Maturation-dependent splicing alterations constrain SYNGAP1 splice-switching therapy Save
- Near-perfect genome sequencing in medical genetics Save
- The burden of TTN variants in the genomic era: Analysis of 18,462 individuals from the Solve-RD consortium and general recommendations Save
- Mapping NMD-coupled alternative splicing in iPSC-derived brain cells: a resource for therapeutic discovery Save
- From unsolved to diagnosed: The Undiagnosed Hackathon and functional validation establish RRAS2-related Noonan syndrome Save
- Systematic analysis of genetic and phenotypic characteristics reveals antisense oligonucleotide therapy potential for one-third of neurodevelopmental disorders Save
- Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples Save
- Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples Save
- Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context Save
- The Genetics of Intellectual Disability Save
- Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals Save
- Economic evaluations of exome and genome sequencing in pediatric genetics: considerations towards a consensus strategy Save
- Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA Save
- Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases Save
- Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome Save
- Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases Save
- Solving patients with rare diseases through programmatic reanalysis of genome-phenome data Save
- A systematic review and standardized clinical validity assessment of male infertility genes Save