Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families
2019 · BMC Medical Genetics · 22 citations
https://doi.org/10.1186/s12881-019-0907-7
L
Lettie E. Rawlins
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Lettie E. Rawlins is an academic researcher from University of Exeter. The author has contributed to research in topics: Genetics and Neurodevelopmental Disorders & Genomics and Rare Diseases & Hereditary Neurological Disorders. The author has an h-index of 12, co-authored 30 publications.
ORCID: 0000-0002-6764-253XPapers by this author
worksBiallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities
2022 · Genetics in Medicine · 11 citations
https://doi.org/10.1016/j.gim.2022.07.019
Models of <i>KPTN</i>-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes
2023 · Brain · 10 citations
https://doi.org/10.1093/brain/awad231
HERC2 deficiency activates C-RAF/MKK3/p38 signalling pathway altering the cellular response to oxidative stress
2022 · Cellular and Molecular Life Sciences · 8 citations
https://doi.org/10.1007/s00018-022-04586-7
Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder
2024 · Genetics in Medicine · 7 citations
https://doi.org/10.1016/j.gim.2024.101278
<scp><i>TECPR2</i></scp>‐related hereditary sensory and autonomic neuropathy in two siblings from Palestine
2024 · American Journal of Medical Genetics Part A · 6 citations
https://doi.org/10.1002/ajmg.a.63579
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