A. Douglas

发表

RNA splicing analysis in genomic medicine.

D. Baralle, H. Wai, A. Douglas, 2019, The international journal of biochemistry & cell biology.

Evolutionary Constraint Helps Unmask a Splicing Regulatory Region in BRCA1 Exon 11

David I. Wilson, Diana Baralle, D. Baralle, 2012, PloS one.

Oligonucleotide-Based Therapy for FTD/ALS Caused by the C9orf72 Repeat Expansion: A Perspective

Yoshitsugu Aoki, Matthew J. A. Wood, M. Wood, 2013, Journal of nucleic acids.

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

M. Turner, K. Talbot, J. Scaber, 2019, bioRxiv.

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

Adam C Gunning, D. Baralle, C. Mercer, 2020, Genetics in Medicine.

Title: RNA splicing analysis in genomic medicine

D. Baralle, H. Wai, A. Douglas, 2018 .

MN11 C9ORF72 and RAB7L1 regulate vesicle traffi cking in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

M. Turner, K. Talbot, R. Manzano, 2017, Neuromuscular Disorders.

Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

A. Need, M. Kayikci, D. Baralle, 2020, Scientific Reports.

C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell‐Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

M. Turner, G. Weir, Tatjana Lalic, 2016, Stem cells.

Oligonucleotide therapies: the future of amyotrophic lateral sclerosis treatment?

M. Wood, Y. Aoki, A. Douglas, 2015, Neurodegenerative disease management.

Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation

C. Stopford, S. Holden, J. Rankin, 2021, Journal of Medical Genetics.

hexanucleotide expansions are associated with altered ER calcium homeostasis and stress granule formation in iPSC-derived neurons from patients with amyotrophic lateral sclerosis and frontotemporal dementia

M. Turner, G. Weir, Tatjana Lalic, 2016 .

G.O.26 Development of LNA gapmer oligonucleotide based therapy for FTD/ALS caused by the C9orf72 repeat expansion

K. Talbot, M. Wood, Y. Aoki, 2015, Neuromuscular Disorders.

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

K. Nathanson, J. Graham, T. Pierson, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms

J. Baptista, M. Widlansky, M. Kurian, 2022, Life Science Alliance.

Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review

A. Fry, K. Lachlan, R. Newbury-Ecob, 2020, American journal of medical genetics. Part A.

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

Carol J. Saunders, C. Saunders, W. Newman, 2021, Nature communications.

Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders

D. Horn, C. Garel, V. Narayanan, 2023, eLife.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

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

D. Baralle, G. Wheway, A. Douglas, 2020, Experimental eye research.

MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease

D. Baralle, S. Hubbard, W. Newman, 2022, American journal of human genetics.

MRSD: a novel quantitative approach for assessing suitability of RNA-seq in the clinical investigation of mis-splicing in Mendelian disease

D. Baralle, S. Hubbard, W. Newman, 2021, medRxiv.

A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project

D. Baralle, N. S. Thomas, A. Ruiz, 2022, medRxiv.

Splicing therapy for neuromuscular disease☆

M. Wood, A. Douglas, 2013, Molecular and Cellular Neuroscience.

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

Arthur S. Lee, Hiromi Hirata, D. Baralle, 2019, Human mutation.

Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity

S. Robertson, D. Baralle, R. Heller, 2020, European Journal of Human Genetics.

Translating RNA Splicing Analysis into Diagnosis and Therapy

D. Baralle, A. Douglas, 2021, OBM Genetics.

Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

M. B. Pereira, A. Need, M. Kayikci, 2021, Genetics in Medicine.

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

C. Saunders, A. Fry, V. Faundes, 2021, Nature Communications.

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

D. Baralle, C. Mercer, S. Mehta, 2020, Genetics in Medicine.

Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly

D. Baralle, S. Ellard, K. Stals, 2021, Genome medicine.

RNA splicing: disease and therapy.

M. Wood, A. Douglas, Matthew J A Wood, 2011, Briefings in functional genomics.

Non-coding RNA in C9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia: A perfect storm of dysfunction

A. Douglas, 2018, Non-coding RNA research.

Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases

S. Robertson, A. Collins, A. Goriely, 2017, Human Mutation.

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

D. Baralle, S. Mansour, S. Douzgou, 2022, Human mutation.

K. Talbot, S. Ennis, N. Foulds, 2017, neurogenetics.

Title 1 Pathogenic variants causing ABL 1 malformation syndrome cluster in a myristoyl-2 binding pocket and increase tyrosine kinase activity 3 4 Running title 5 ABL 1 pathogenic variants 6

S. Robertson, D. Baralle, R. Heller, 2020 .

Pigmentary anomaly caused by mosaic 3q22.2q29 duplication

H. Lotery, A. Lotery, A. Douglas, 2022, Clinical and experimental dermatology.

Predicting the impact of rare variants on RNA splicing in CAGI6

Stephen M. Mount, P. Radivojac, O. Lichtarge, 2023, bioRxiv.

RNA sequencing uplifts diagnostic rate in undiagnosed rare disease patients

D. Baralle, N. S. Thomas, D. Hunt, 2023, medRxiv.

Transfer of genetic therapy across human populations: molecular targets for increasing patient coverage in repeat expansion diseases

S. Hammond, M. Wood, M. Sobrido, 2015, European Journal of Human Genetics.

Persistent Fetal Vasculature and Severe Protein C Deficiency

I. Temple, I. Temple, N. Foulds, 2010, Molecular Syndromology.

A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project

D. Baralle, N. S. Thomas, N. Whiffin, 2022, Genome Medicine.