Shelagh Joss
Queen Elizabeth University Hospital(GB)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Congenital heart defects research, RNA Research and Splicing
Most-Cited Works
- → Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders(2016)472 cited
- → Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort(2019)440 cited
- → RASA1Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation(2013)284 cited
- → Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants(2021)219 cited
- → Molecular and clinical spectrum of type I plasminogen deficiency: a series of 50 patients(2006)166 cited
- → Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families(2015)162 cited
- → BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription(2016)161 cited
- → Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis(2016)149 cited
- → Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype(2013)145 cited
- → Clinical and genetic aspects of KBG syndrome(2016)137 cited