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

由 Douglas, Andrew G.L.
發表在 Noncoding RNA Res (2018)

Splicing therapy for neuromuscular disease()

由 Douglas, Andrew G.L., Wood, Matthew J.A.
出版 2013

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

由 Raponi, Michela, Douglas, Andrew G. L., Tammaro, Claudia, Wilson, David I., Baralle, Diana
出版 2012

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

由 Fernandes, Stephanie A., Douglas, Andrew G. L., Varela, Miguel A., Wood, Matthew J. A., Aoki, Yoshitsugu
出版 2013

ADCY5-related dyskinesia presenting as familial myoclonus-dystonia

由 Douglas, Andrew G. L., Andreoletti, Gaia, Talbot, Kevin, Hammans, Simon R., Singh, Jaspal, Whitney, Andrea, Ennis, Sarah, Foulds, Nicola C.
發表在 Neurogenetics (2017)

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

由 Bernkopf, Marie, Hunt, David, Koelling, Nils, Morgan, Tim, Collins, Amanda L., Fairhurst, Joanna, Robertson, Stephen P., Douglas, Andrew G. L., Goriely, Anne
發表在 Hum Mutat (2017)

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

由 Wai, Htoo A., Lord, Jenny, Lyon, Matthew, Gunning, Adam, Kelly, Hugh, Cibin, Penelope, Seaby, Eleanor G., Spiers-Fitzgerald, Kerry, Lye, Jed, Ellard, Sian, Thomas, N. Simon, Bunyan, David J., Douglas, Andrew G. L., Baralle, Diana
發表在 Genet Med (2020)

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

由 Wai, Htoo A., Lord, Jenny, Lyon, Matthew, Gunning, Adam, Kelly, Hugh, Cibin, Penelope, Seaby, Eleanor G., Spiers-Fitzgerald, Kerry, Lye, Jed, Ellard, Sian, Thomas, N. Simon, Bunyan, David J., Douglas, Andrew G. L., Baralle, Diana
發表在 Genet Med (2020)

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

由 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.
發表在 Eur J Hum Genet (2020)

C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell‐Derived Neuron...

由 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
發表在 Stem Cells (2016)

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

由 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
發表在 Genome Med (2021)

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

由 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
發表在 Nat Commun (2021)

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

由 Frints, Suzanna G.M., Hennig, Friederike, Colombo, Roberto, Jacquemont, Sebastien, Terhal, Paulien, Zimmerman, Holly H., Hunt, David, Mendelsohn, Bryce A., Kordaß, Ulrike, Webster, Richard, Sinnema, Margje, Abdul-Rahman, Omar, Suckow, Vanessa, Fernández-Jaén, Alberto, van Roozendaal, Kees, Stevens, Servi J.C., Macville, Merryn V.E., Al-Nasiry, Salwan, van Gassen, Koen, Utzig, Norbert, Koudijs, Suzanne M., McGregor, Lesley, Maas, Saskia M., Baralle, Diana, Dixit, Abhijit, Wieacker, Peter, Lee, Marcus, Lee, Arthur S., Engle, Elizabeth C., Houge, Gunnar, Gradek, Gyri A., Douglas, Andrew G.L., Longman, Cheryl, Joss, Shelagh, Velasco, Danita, Hennekam, Raoul C., Hirata, Hiromi, Kalscheuer, Vera M.
發表在 Hum Mutat (2019)