Tailored antisense oligonucleotides designed to correct aberrant splicing reveal actionable groups of mutations for rare genetic disorders
Wai, Htoo A., Svobodova, Eliska, Herrera, Natalia Romero, Douglas, Andrew G. L., Holloway, John W., Baralle, Francisco E., Baralle, Marco, Baralle, Diana
Published in Experimental & molecular medicine (01.08.2024)
Published in Experimental & molecular medicine (01.08.2024)
Get full text
Journal Article
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
Dafinca, Ruxandra, Scaber, Jakub, Ababneh, Nida'a, Lalic, Tatjana, Weir, Gregory, Christian, Helen, Vowles, Jane, Douglas, Andrew G.L., Fletcher‐Jones, Alexandra, Browne, Cathy, Nakanishi, Mahito, Turner, Martin R., Wade‐Martins, Richard, Cowley, Sally A., Talbot, Kevin
Published in Stem cells (Dayton, Ohio) (01.08.2016)
Published in Stem cells (Dayton, Ohio) (01.08.2016)
Get full text
Journal Article
C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia
Aoki, Yoshitsugu, Manzano, Raquel, Lee, Yi, Dafinca, Ruxandra, Aoki, Misako, Douglas, Andrew G L, Varela, Miguel A, Sathyaprakash, Chaitra, Scaber, Jakub, Barbagallo, Paola, Vader, Pieter, Mäger, Imre, Ezzat, Kariem, Turner, Martin R, Ito, Naoki, Gasco, Samanta, Ohbayashi, Norihiko, El Andaloussi, Samir, Takeda, Shin'ichi, Fukuda, Mitsunori, Talbot, Kevin, Wood, Matthew J A
Published in Brain (London, England : 1878) (01.04.2017)
Published in Brain (London, England : 1878) (01.04.2017)
Get full text
Journal Article
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine
Faundes, Víctor, Jennings, Martin D., Crilly, Siobhan, Legraie, Sarah, Withers, Sarah E., Cuvertino, Sara, Davies, Sally J., Douglas, Andrew G. L., Fry, Andrew E., Harrison, Victoria, Amiel, Jeanne, Lehalle, Daphné, Newman, William G., Newkirk, Patricia, Ranells, Judith, Splitt, Miranda, Cross, Laura A., Saunders, Carol J., Sullivan, Bonnie R., Granadillo, Jorge L., Gordon, Christopher T., Kasher, Paul R., Pavitt, Graham D., Banka, Siddharth
Published in Nature communications (05.02.2021)
Published in Nature communications (05.02.2021)
Get full text
Journal Article
Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach
Jaramillo Oquendo, Carolina, Wai, Htoo A, Rich, Wil I, Bunyan, David J, Thomas, N Simon, Hunt, David, Lord, Jenny, Douglas, Andrew G L, Baralle, Diana
Published in Genome medicine (09.09.2024)
Published in Genome medicine (09.09.2024)
Get full text
Journal Article
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly
Macken, William L, Godwin, Annie, Wheway, Gabrielle, Stals, Karen, Nazlamova, Liliya, Ellard, Sian, Alfares, Ahmed, Aloraini, Taghrid, AlSubaie, Lamia, Alfadhel, Majid, Alajaji, Sulaiman, Wai, Htoo A, Self, Jay, Douglas, Andrew G L, Kao, Alexander P, Guille, Matthew, Baralle, Diana
Published in Genome medicine (25.02.2021)
Published in Genome medicine (25.02.2021)
Get full text
Journal Article
A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project
Blakes, Alexander J M, Wai, Htoo A, Davies, Ian, Moledina, Hassan E, Ruiz, April, Thomas, Tessy, Bunyan, David, Thomas, N Simon, Burren, Christine P, Greenhalgh, Lynn, Lees, Melissa, Pichini, Amanda, Smithson, Sarah F, Taylor Tavares, Ana Lisa, O'Donovan, Peter, Douglas, Andrew G L, Whiffin, Nicola, Baralle, Diana, Lord, Jenny
Published in Genome medicine (26.07.2022)
Published in Genome medicine (26.07.2022)
Get full text
Journal Article
ADCY5-related dyskinesia presenting as familial myoclonus-dystonia
Douglas, Andrew G. L., Andreoletti, Gaia, Talbot, Kevin, Hammans, Simon R., Singh, Jaspal, Whitney, Andrea, Ennis, Sarah, Foulds, Nicola C.
Published in Neurogenetics (01.04.2017)
Published in Neurogenetics (01.04.2017)
Get full text
Journal Article
Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity
Blakes, Alexander J M, Gaul, Emily, Lam, Wayne, Shannon, Nora, Knapp, Karen M, Bicknell, Louise S, Jackson, Meremaihi R, Wade, Emma M, Robertson, Stephen, White, Susan M, Heller, Raoul, Chase, Andrew, Baralle, Diana, Douglas, Andrew G L
Published in European journal of human genetics : EJHG (01.04.2021)
Published in European journal of human genetics : EJHG (01.04.2021)
Get full text
Journal Article
Splicing therapy for neuromuscular disease
Douglas, Andrew G.L., Wood, Matthew J.A.
Published in Molecular and cellular neuroscience (01.09.2013)
Published in Molecular and cellular neuroscience (01.09.2013)
Get full text
Journal Article
Evolutionary constraint helps unmask a splicing regulatory region in BRCA1 exon 11
Raponi, Michela, Douglas, Andrew G L, Tammaro, Claudia, Wilson, David I, Baralle, Diana
Published in PloS one (16.05.2012)
Published in PloS one (16.05.2012)
Get full text
Journal Article
RNA splicing analysis in genomic medicine
Wai, Htoo, Douglas, Andrew G.L., Baralle, Diana
Published in The international journal of biochemistry & cell biology (01.03.2019)
Published in The international journal of biochemistry & cell biology (01.03.2019)
Get full text
Journal Article
Transfer of genetic therapy across human populations: molecular targets for increasing patient coverage in repeat expansion diseases
Varela, Miguel A, Curtis, Helen J, Douglas, Andrew G L, Hammond, Suzan M, O'Loughlin, Aisling J, Sobrido, Maria J, Scholefield, Janine, Wood, Matthew J A
Published in European journal of human genetics : EJHG (01.02.2016)
Published in European journal of human genetics : EJHG (01.02.2016)
Get full text
Journal Article
Posthemorrhagic Ventricular Dilation in the Neonate: Development and Characterization of a Rat Model
CHERIAN, SHOBHA S, LOVE, SETH, SILVER, IAN A, PORTER, HELEN J, WHITELAW, ANDREW G. L, THORESEN, MARIANNE
Published in Journal of neuropathology and experimental neurology (01.03.2003)
Published in Journal of neuropathology and experimental neurology (01.03.2003)
Get full text
Journal Article
Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation
Cairns, Lauren M, Rankin, Julia, Hamad, Asma, Cooper, Nicola, Merrifield, Katrina, Jain, Vani, Rosser, Elisabeth, Rogers, Megan, Buston, Sarah, Stopford, Cheryl, Jones, Gabriela, Lefroy, Henrietta, Németh, Andrea H, Holden, Simon, Douglas, Andrew G L
Published in Journal of medical genetics (01.06.2022)
Published in Journal of medical genetics (01.06.2022)
Get full text
Journal Article
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, Htoo A., Constable, Matthew, Drewes, Cosima, Davies, Ian C., Svobodova, Eliska, Dempsey, Esther, Saggar, Anand, Homfray, Tessa, Mansour, Sahar, Douzgou, Sofia, Barr, Kate, Mercer, Catherine, Hunt, David, Douglas, Andrew G. L., Baralle, Diana
Published in Human mutation (01.07.2022)
Published in Human mutation (01.07.2022)
Get full text
Journal Article