Personalised penetrance estimation forC9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia
Douglas AGL. et al, (2024), BMJ Neurology Open, 6, e000792 - e000792
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
Nolden KA. et al, (2022), Life Science Alliance, 5, e202101284 - e202101284
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
Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity
Blakes AJM. et al, (2021), European Journal of Human Genetics, 29, 593 - 603
Translating RNA Splicing Analysis into Diagnosis and Therapy
Douglas AGL. and Baralle D., (2021), OBM Genetics, 5
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly
Macken WL. et al, (2021), Genome Medicine, 13
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine
Faundes V. et al, (2021), Nature Communications, 12
Correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in C9orf72 by CRISPR/Cas9 genome editing using homology-directed repair
Ababneh NA. et al, (2020), Human Molecular Genetics, 29, 2200 - 2217
Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review
Durkin A. et al, (2020), American Journal of Medical Genetics Part A, 182, 1637 - 1654