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Publications

Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation.

Kim CY. et al, (2020), Ann Neurol, 88, 1028 - 1033

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.

Shah M. et al, (2020), Ophthalmic Genet, 41, 331 - 337

Whole-genome sequencing of patients with rare diseases in a national health system.

Turro E. et al, (2020), Nature, 583, 96 - 102

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

Genetic testing in Neurology

Lefroy H. et al, (2020), Medicine (United Kingdom)

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.

Aitken S. et al, (2019), Am J Hum Genet, 105, 933 - 946

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

Abdullah UB. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 1101 - 1102

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.

Wadrup F. et al, (2019), Eur J Hum Genet, 27, 1215 - 1224

Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.

Taylor J. et al, (2019), Genome Med, 11

Evaluation of next generation sequencing panels in adult-onset hereditary neurological disorders

Scaber J. et al, (2019), EUROPEAN JOURNAL OF NEUROLOGY, 26, 334 - 334

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.

Ho AK. et al, (2019), Value Health, 22, 712 - 720

Germline selection shapes human mitochondrial DNA diversity.

Wei W. et al, (2019), Science (New York, N.Y.), 364

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.

Gorman KM. et al, (2019), American journal of human genetics, 104, 948 - 956

Clinical application of next-generation sequencing to the practice of neurology.

Rexach J. et al, (2019), Lancet Neurol, 18, 492 - 503

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