The use of genetic testing in amyotrophic lateral sclerosis (ALS): a practical approach.
Chaouch A. et al, (2025), Amyotroph Lateral Scler Frontotemporal Degener, 1 - 7
Penetrance and pleiotropy in ATXN2-related amyotrophic lateral sclerosis.
Douglas AGL., (2025), Eur J Hum Genet
Perils of predictive testing for unaffected people from motor neuron disease families with no identified causal gene
Mcneill A. et al, (2025), Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 26, 352 - 353
Genetic testing for monogenic forms of motor neuron disease/amyotrophic lateral sclerosis in unaffected family members
Howard J. et al, (2025), European Journal of Human Genetics, 33, 7 - 13
Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach
Jaramillo Oquendo C. et al, (2024), Genome Medicine, 16
Personalised penetrance estimation forC9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia
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Tailored antisense oligonucleotides designed to correct aberrant splicing reveal actionable groups of mutations for rare genetic disorders
Wai HA. et al, (2024), Experimental & Molecular Medicine, 56, 1816 - 1825
Reduced penetrance of gene variants causing amyotrophic lateral sclerosis.
Douglas AGL. and Baralle D., (2023), J Med Genet
RNA-sequencing first approach generates new diagnostic candidates in Mendelian disorders
Jaramillo Oquendo C. et al, (2023)
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy
Mattison KA. et al, (2023), Brain, 146, 1357 - 1372
Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders
Burglen L. et al, (2023), eLife, 12
A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project
Blakes AJM. et al, (2022), Genome Medicine, 14
NovelDNM1Lvariants impair mitochondrial dynamics through divergent mechanisms
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Pigmentary anomaly caused by mosaic 3q22.2q29 duplication
Martinez-Falero BS. et al, (2022), Clinical and Experimental Dermatology, 47, 2342 - 2345
Short amplicon reverse transcription‐polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis
Wai HA. et al, (2022), Human Mutation, 43, 963 - 970
Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation
Cairns LM. et al, (2022), Journal of Medical Genetics, 59, 544 - 548
MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease
Rowlands CF. et al, (2022), The American Journal of Human Genetics, 109, 210 - 222
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis
Hyder Z. et al, (2021), Genetics in Medicine, 23, 2360 - 2368
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders
Rowlands C. et al, (2021), Scientific Reports, 11