Wendy D. Jones
Great Ormond Street Hospital(GB)Great Ormond Street Hospital for Children NHS Foundation Trust(GB)Manchester Royal Eye Hospital(GB)Adelphi Group (United Kingdom)(GB)Manchester University NHS Foundation Trust(GB)University College London(GB)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Cancer Genomics and Diagnostics, Genetic and phenotypic traits in livestock
Most-Cited Works
- → Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data(2014)787 cited
- → De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome(2012)280 cited
- → Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders(2017)271 cited
- → Quantifying the contribution of recessive coding variation to developmental disorders(2018)219 cited
- → Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families(2015)162 cited
- → Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children(2018)129 cited