Shelagh Joss
Queen Elizabeth University Hospital(GB)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Congenital heart defects research, Genetics and Neurodevelopmental Disorders, Congenital Ear and Nasal Anomalies
Most-Cited Works
- → SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome(2017)160 cited
- → ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder(2017)137 cited
- → Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability(2014)70 cited
- → Mosaic structural variation in children with developmental disorders(2015)62 cited
- → Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity(2014)59 cited
- → Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort(2018)51 cited
- → Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability(2017)39 cited
- → Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions(2011)13 cited
- → A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41‐q42 deletion phenotype(2018)12 cited
- → SOX5: Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum(2023)10 cited