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Publications

Reduced penetrance of gene variants causing amyotrophic lateral sclerosis.

Douglas AGL. and Baralle D., (2023), J Med Genet

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

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Wai HA. et al, (2020), Genetics in Medicine, 22, 1005 - 1014

Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy

Wheway G. et al, (2020), Experimental Eye Research, 192, 107950 - 107950

Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Frints SGM. et al, (2019), Human Mutation, 40, 2270 - 2285

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