Dirty Fish Versus Squeaky Clean Mice: Dissecting Interspecies Differences Between Animal Models of Interferonopathy

af Rutherford, Holly A., Kasher, Paul R., Hamilton, Noémie
Udgivet i Front Immunol (2021)

A Multi-Model Pipeline for Translational Intracerebral Haemorrhage Research

af Withers, Sarah E., Parry-Jones, Adrian R., Allan, Stuart M., Kasher, Paul R.
Udgivet i Transl Stroke Res (2020)

RNA-Seq Dataset From Isolated Leukocytes Following Spontaneous Intracerebral Hemorrhage in Zebrafish Larvae

af Crilly, Siobhan, Cooper, James, Bradford, Lauren, Prise, Ian E., Krishnan, Siddharth, Kasher, Paul R.
Udgivet i Front Cell Neurosci (2021)

Revisiting promising preclinical intracerebral hemorrhage studies to highlight repurposable drugs for translation

af Crilly, Siobhan, Withers, Sarah E, Allan, Stuart M, Parry-Jones, Adrian R, Kasher, Paul R
Udgivet i Int J Stroke (2020)

Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts

af Badrock, Andrew P., Uggenti, Carolina, Wacheul, Ludivine, Crilly, Siobhan, Jenkinson, Emma M., Rice, Gillian I., Kasher, Paul R., Lafontaine, Denis L.J., Crow, Yanick J., O’Keefe, Raymond T.
Udgivet i Am J Hum Genet (2020)

A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy

af Weterman, Marian A.J., Sorrentino, Vincenzo, Kasher, Paul R., Jakobs, Marja E., van Engelen, Baziel G.M., Fluiter, Kees, de Wissel, Marit B., Sizarov, Aleksander, Nürnberg, Gudrun, Nürnberg, Peter, Zelcer, Noam, Schelhaas, H. Jurgen, Baas, Frank
Udgivet 2012

Using zebrafish larval models to study brain injury, locomotor and neuroinflammatory outcomes following intracerebral haemorrhage

af Crilly, Siobhan, Njegic, Alexandra, Laurie, Sarah E., Fotiou, Elisavet, Hudson, Georgina, Barrington, Jack, Webb, Kirsty, Young, Helen L., Badrock, Andrew P., Hurlstone, Adam, Rivers-Auty, Jack, Parry-Jones, Adrian R., Allan, Stuart M., Kasher, Paul R.
Udgivet i F1000Res (2018)

Mutations in CECR1 associated with a neutrophil signature in peripheral blood

af Belot, Alexandre, Wassmer, Evangeline, Twilt, Marinka, Lega, Jean-Christophe, Zeef, Leo AH, Oojageer, Anthony, Kasher, Paul R, Mathieu, Anne-Laure, Malcus, Christophe, Demaret, Julie, Fabien, Nicole, Collardeau-Frachon, Sophie, Mechtouff, Laura, Derex, Laurent, Walzer, Thierry, Rice, Gillian I, Durieu, Isabelle, Crow, Yanick J
Udgivet 2014

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

af Kasher, Paul R., Schertz, Katherine E., Thomas, Megan, Jackson, Adam, Annunziata, Silvia, Ballesta-Martinez, María J., Campeau, Philippe M., Clayton, Peter E., Eaton, Jennifer L., Granata, Tiziana, Guillén-Navarro, Encarna, Hernando, Cristina, Laverriere, Caroline E., Liedén, Agne, Villa-Marcos, Olaya, McEntagart, Meriel, Nordgren, Ann, Pantaleoni, Chiara, Pebrel-Richard, Céline, Sarret, Catherine, Sciacca, Francesca L., Wright, Ronnie, Kerr, Bronwyn, Glasgow, Eric, Banka, Siddharth
Udgivet i Am J Hum Genet (2016)

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

af 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
Udgivet i Nat Commun (2021)

CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration

af Schaffer, Ashleigh E., Eggens, Veerle R.C., Caglayan, Ahmet Okay, Reuter, Miriam S., Scott, Eric, Coufal, Nicole G., Silhavy, Jennifer L., Xue, Yuanchao, Kayserili, Hulya, Yasuno, Katsuhito, Rosti, Rasim Ozgur, Abdellateef, Mostafa, Caglar, Caner, Kasher, Paul R., Cazemier, J. Leonie, Weterman, Marian A., Cantagrel, Vincent, Cai, Na, Zweier, Christiane, Altunoglu, Umut, Satkin, N. Bilge, Aktar, Fesih, Tuysuz, Beyhan, Yalcinkaya, Cengiz, Caksen, Huseyin, Bilguvar, Kaya, Fu, Xiang-Dong, Trotta, Christopher, Gabriel, Stacey, Reis, André, Gunel, Murat, Baas, Frank, Gleeson, Joseph G.
Udgivet 2014

Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell–Defective Apoptosis and Hyperproliferation

af Belot, Alexandre, Kasher, Paul R., Trotter, Eleanor W., Foray, Anne-Perrine, Debaud, Anne-Laure, Rice, Gillian I., Szynkiewicz, Marcin, Zabot, Marie-Therese, Rouvet, Isabelle, Bhaskar, Sanjeev S., Daly, Sarah B., Dickerson, Jonathan E., Mayer, Josephine, O’Sullivan, James, Juillard, Laurent, Urquhart, Jill E., Fawdar, Shameem, Marusiak, Anna A., Stephenson, Natalie, Waszkowycz, Bohdan, Beresford, Michael W., Biesecker, Leslie G., Black, Graeme C. M., René, Céline, Eliaou, Jean-François, Fabien, Nicole, Ranchin, Bruno, Cochat, Pierre, Gaffney, Patrick M., Rozenberg, Flore, Lebon, Pierre, Malcus, Christophe, Crow, Yanick J., Brognard, John, Bonnefoy, Nathalie
Udgivet 2013

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

af Rice, Gillian I, Kasher, Paul R, Forte, Gabriella M A, Mannion, Niamh M, Greenwood, Sam M, Szynkiewicz, Marcin, Dickerson, Jonathan E, Bhaskar, Sanjeev S, Zampini, Massimiliano, Briggs, Tracy A, Jenkinson, Emma M, Bacino, Carlos A, Battini, Roberta, Bertini, Enrico, Brogan, Paul A, Brueton, Louise A, Carpanelli, Marialuisa, Laet, Corinne De, de Lonlay, Pascale, del Toro, Mireia, Desguerre, Isabelle, Fazzi, Elisa, Garcia-Cazorla, Àngels, Heiberg, Arvid, Kawaguchi, Masakazu, Kumar, Ram, Lin, Jean-Pierre S-M, Lourenco, Charles M, Male, Alison M, Marques, Wilson, Mignot, Cyril, Olivieri, Ivana, Orcesi, Simona, Prabhakar, Prab, Rasmussen, Magnhild, Robinson, Robert A, Rozenberg, Flore, Schmidt, Johanna L, Steindl, Katharina, Tan, Tiong Y, van der Merwe, William G, Vanderver, Adeline, Vassallo, Grace, Wakeling, Emma L, Wassmer, Evangeline, Whittaker, Elizabeth, Livingston, John H, Lebon, Pierre, Suzuki, Tamio, McLaughlin, Paul J, Keegan, Liam P, O’Connell, Mary A, Lovell, Simon C, Crow, Yanick J
Udgivet 2012

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

af Jenkinson, Emma M., Rodero, Mathieu P., Kasher, Paul R., Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C., Rose, Yohann, Kershaw, Christopher J., Urquhart, Jill E., Williams, Simon G., Bhaskar, Sanjeev S., O’Sullivan, James, Baerlocher, Gabriela M., Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W., Barnicoat, Angela J., Battini, Roberta, Berger, Andrea, Blair, Edward M., Brunstrom-Hernandez, Janice E., Buckard, Johannes A., Cassiman, David M., Caumes, Rosaline, Cordelli, Duccio M., De Waele, Liesbeth M., Fay, Alexander J., Ferreira, Patrick, Fletcher, Nicholas A., Fryer, Alan E., Goel, Himanshu, Hemingway, Cheryl A., Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G., Lourenço, Charles M., Malpas, Timothy J., Mehta, Sarju G., Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Geraldine, Schiffmann, Raphael, Sherr, Elliott H., Sinnathuray, Kanaga R., Soh, Calvin, Stewart, Helen S., Stone, John, Van Esch, Hilde, Van Mol, Christine E.G., Vanderver, Adeline, Wakeling, Emma L., Whitney, Andrea, Pavitt, Graham D., Griffiths-Jones, Sam, Rice, Gillian I., Revy, Patrick, van der Knaap, Marjo S., Livingston, John H., O’Keefe, Raymond T., Crow, Yanick J.
Udgivet i Nat Genet (2016)