CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
2018 · Nature Communications · 118 citations
https://doi.org/10.1038/s41467-018-06014-6
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Shelagh Joss
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Shelagh Joss is an academic researcher from Queen Elizabeth University Hospital. The author has contributed to research in topics: Genetics and Neurodevelopmental Disorders & Genomics and Rare Diseases & Genomic variations and chromosomal abnormalities. The author has an h-index of 43, co-authored 91 publications.
ORCID: 0000-0002-4887-9726Papers by this author
worksAn intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase
2020 · European Journal of Human Genetics · 79 citations
https://doi.org/10.1038/s41431-020-0589-9
The contribution of X-linked coding variation to severe developmental disorders
2021 · Nature Communications · 63 citations
https://doi.org/10.1038/s41467-020-20852-3
Delineation of dominant and recessive forms of <i>LZTR1</i>‐associated Noonan syndrome
2019 · Clinical Genetics · 62 citations
https://doi.org/10.1111/cge.13533
Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study
2022 · The Lancet Psychiatry · 47 citations
https://doi.org/10.1016/s2215-0366(22)00207-3
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder
2022 · Genetics in Medicine · 41 citations
https://doi.org/10.1016/j.gim.2021.12.002
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