Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation.
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Reply to "PPP2R5D genetic mutations and early-onset parkinsonism".
Kim CY. et al, (2020), Ann Neurol
Inhibition of the SUV4-20 H1 histone methyltransferase increases frataxin expression in Friedreich's ataxia patient cells.
Vilema-Enríquez G. et al, (2020), J Biol Chem
Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.
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Whole-genome sequencing of patients with rare diseases in a national health system.
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Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.
Shah M. et al, (2020), JAMA Ophthalmol, 138, 544 - 551
Evidence for 28 genetic disorders discovered by combining healthcare and research data
Kaplanis J. et al, (2020), Nature
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.
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The PREGCARE study: precision genetic counselling via personalised evaluation of recurrence risk for families with a child affected by a disorder caused by a de novo mutation
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A clinical diagnostic algorithm for early onset cerebellar ataxia.
Brandsma R. et al, (2019), Eur J Paediatr Neurol, 23, 692 - 706
A case-note review of continued pregnancies found to be at a high risk of Huntington's disease: considerations for clinical practice.
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Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.
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Meaningful and Measurable Health Domains in Huntington's Disease: Large-Scale Validation of the Huntington's Disease Health-Related Quality of Life Questionnaire Across Severity Stages.
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Germline selection shapes human mitochondrial DNA diversity.
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Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy
LU X. et al, (2019), The American Journal of Human Genetics
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Snijders Blok L. et al, (2019), Nat Commun, 10
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
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Clinical application of next-generation sequencing to the practice of neurology.
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Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.
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