Rachael A. Mein
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 18 publications
The British Society for Genetic Medicine guidance on managing incidental findings identified during rare disease genomic testing.
Journal: Journal of medical genetics
Published: January 22, 2026
Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period.
Journal: Neurology. Genetics
Published: September 26, 2025
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access.
Journal: Journal of medical genetics
Published: July 09, 2024
Carrier testing for partners of MUTYH variant carriers: UK Cancer Genetics Group recommendations.
Journal: Journal of medical genetics
Published: January 26, 2024
Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy.
Journal: Neurology
Published: November 29, 2022
LAMA2-related muscular dystrophy: Natural history of a large pediatric cohort.
Journal: Annals of clinical and translational neurology
Published: July 07, 2020
Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials.
Journal: Annals of clinical and translational neurology
Published: June 26, 2020
Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy.
Journal: Neuromuscular disorders : NMD
Published: April 26, 2020
ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects.
Journal: Neuromuscular disorders : NMD
Published: March 03, 2018
Parental mosaicism in RYR1-related Central Core Disease.
Journal: Neuromuscular disorders : NMD
Published: July 29, 2017
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.
Journal: Journal of neurology, neurosurgery, and psychiatry
Published: July 26, 2017
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.
Journal: Neuromuscular disorders : NMD
Published: February 09, 2017
Last Updated: 09/26/2026