Rachel L. Taylor
Manchester Science Park
Manchester, ENG, United Kingdom
Manchester, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 26 publications
Consensus recommendations for next-generation sequencing-based genetic testing in Rare Neurological diseases.
Journal: European journal of human genetics : EJHG
Published: March 16, 2026
Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7.
Journal: American journal of human genetics
Published: October 15, 2024
HGVS Nomenclature 2024: improvements to community engagement, usability, and computability.
Journal: Genome medicine
Published: August 26, 2024
A method for estimation of plasma protein binding using diffusion ordered NMR spectroscopy (DOSY).
Journal: RSC medicinal chemistry
Published: April 09, 2024
Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network.
Journal: European journal of human genetics : EJHG
Published: January 22, 2024
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.
Journal: Journal of medical genetics
Published: November 02, 2023
Duchenne muscular dystrophy: adult hospice admission survey - doors open or closed?
Journal: BMJ supportive & palliative care
Published: September 29, 2022
Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia.
Journal: Orphanet journal of rare diseases
Published: June 10, 2021
Correction: Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 23, 2020
Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy.
Journal: Ophthalmology
Published: September 30, 2020
Craniosynostosis-microphthalmia syndrome belongs to the spectrum of BCOR-related disorders.
Journal: Clinical genetics
Published: May 21, 2020
Small Molecules Restore Bestrophin 1 Expression and Function of Both Dominant and Recessive Bestrophinopathies in Patient-Derived Retinal Pigment Epithelium.
Journal: Investigative ophthalmology & visual science
Published: May 19, 2020
Last Updated: 09/26/2026