Yvette van Ierland
Erasmus MC(NL)
Publications by Year
Research Areas
Genomics and Rare Diseases, Emergency and Acute Care Studies, Genetics and Neurodevelopmental Disorders, Neonatal Respiratory Health Research, RNA Research and Splicing
Most-Cited Works
- → Validity of telephone and physical triage in emergency care: The Netherlands Triage System(2010)99 cited
- → Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms(2016)90 cited
- → Why does meconium cause meconium aspiration syndrome? Current concepts of MAS pathophysiology(2009)71 cited
- → Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders(2023)57 cited
- → The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction(2020)48 cited
- → Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome(2022)46 cited
- → Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders(2021)44 cited
- → Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy(2022)41 cited
- → Alarm signs and antibiotic prescription in febrile children in primary care: an observational cohort study(2013)30 cited
- → Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort(2022)27 cited