Lettie E. Rawlins
Barrack Road
Exeter, ENG, United Kingdom
Exeter, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 28 publications
Expanding the genetic spectrum of autosomal recessive microcephaly in Pakistani families.
Journal: BMC neurology
Published: December 23, 2025
Response to Haliloğlu et al.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 22, 2025
The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model.
The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model.
Journal: Annals of neurology
Published: March 16, 2025
Challenges in Genomic Variant Interpretation Within Pakistani Populations due to Genomic Healthcare Inequalities.
Journal: American journal of medical genetics. Part A
Published: January 30, 2025
mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node.
Journal: Orphanet journal of rare diseases
Published: November 06, 2024
Autophagy dysregulation via the USP20-ULK1 axis in the HERC2-related neurodevelopmental disorder.
Journal: Cell death discovery
Published: January 09, 2024
Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 18, 2023
Expanding the genetic spectrum of hereditary motor sensory neuropathies in Pakistan.
Journal: BMC neurology
Published: December 13, 2023
TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine.
Journal: American journal of medical genetics. Part A
Published: October 11, 2023
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.
Journal: Brain : a journal of neurology
Published: November 02, 2022
Last Updated: 09/26/2026