Rosalina M.L. van Spaendonk
GGD Amsterdam(NL)
Publications by Year
Research Areas
RNA regulation and disease, RNA modifications and cancer, RNA and protein synthesis mechanisms, Genomics and Rare Diseases, RNA Research and Splicing
Most-Cited Works
- → Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations(2014)205 cited
- → Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus(2013)188 cited
- → The selectable marker human dihydrofolate reductase enables sequential genetic manipulation of the Plasmodium berghei genome(2000)91 cited
- → Genetic subtyping of Fanconi anemia by comprehensive mutation screening(2007)87 cited
- → Functional Equivalence of Structurally Distinct Ribosomes in the Malaria Parasite, Plasmodium berghei(2001)81 cited
- → Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants(2019)50 cited
- → Species-specific Regulation and Switching of Transcription between Stage-specific Ribosomal RNA Genes in Plasmodium berghei(1997)47 cited
- → Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C(2020)43 cited
- → POLR3A variants with striatal involvement and extrapyramidal movement disorder(2020)42 cited
- → AlteredPLP1splicing causes hypomyelination of early myelinating structures(2015)42 cited