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Human Mutation|June 13, 2012
The inherited ataxias: genetic heterogeneity, mutation databases, and future directions in research and clinical diagnosticsJoshua Hersheson, Andrea Haworth, Henry Houlden
BMC Medical Genetics|January 9, 2020
Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia OsteocraniostenosisLara Pemberton, Robert Barker, Anna Cockell, et al.
European Journal of Medical Genetics|February 10, 2021
Early prenatal presentation of the cartilage-hair hypoplasia / anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasiaChristine M Hall, Becky Liu, Andrea Haworth, et al.
Cold Spring Harbor Molecular Case Studies|June 14, 2020
Early-onset cerebellar ataxia in a patient with CMT2A2Ricardo Madrid, Sara R Guariglia, Andrea Haworth, et al.
Cold Spring Harbor Molecular Case Studies|October 30, 2021
Autosomal recessive SLC30A9 variants in a proband with a cerebrorenal syndrome and no parental consanguinityRobert Kleyner, Mohammad Arif, Elaine Marchi, et al.
Annals of Neurology|March 10, 2011
Refined exercise testing can aid DNA-based diagnosis in muscle channelopathiesS Veronica Tan, Emma Matthews, Melissa Barber, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 3, 2011
An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia familyHelen Ling, James M Polke, Mary G Sweeney, et al.
Neurology|November 16, 2012
New immunohistochemical method for improved myotonia and chloride channel mutation diagnosticsOlayinka Raheem, Sini Penttilä, Tiina Suominen, et al.
Brain : a Journal of Neurology|September 16, 2021
Translating genetic and functional data into clinical practice: a series of 223 families with myotoniaKaren Suetterlin, Emma Matthews, Richa Sud, et al.
Neurology|March 22, 2013
Prevalence study of genetically defined skeletal muscle channelopathies in EnglandAlejandro Horga, Dipa L Raja Rayan, Emma Matthews, et al.
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