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

द्वारा Rutherford, Holly A., Kasher, Paul R., Hamilton, Noémie
में प्रकाशित Front Immunol (2021)

A Multi-Model Pipeline for Translational Intracerebral Haemorrhage Research

द्वारा Withers, Sarah E., Parry-Jones, Adrian R., Allan, Stuart M., Kasher, Paul R.
में प्रकाशित Transl Stroke Res (2020)

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

द्वारा Crilly, Siobhan, Cooper, James, Bradford, Lauren, Prise, Ian E., Krishnan, Siddharth, Kasher, Paul R.
में प्रकाशित Front Cell Neurosci (2021)

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

द्वारा Crilly, Siobhan, Withers, Sarah E, Allan, Stuart M, Parry-Jones, Adrian R, Kasher, Paul R
में प्रकाशित Int J Stroke (2020)

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

द्वारा 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.
में प्रकाशित Am J Hum Genet (2020)

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

द्वारा 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
प्रकाशित 2012

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

द्वारा 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.
में प्रकाशित F1000Res (2018)

Mutations in CECR1 associated with a neutrophil signature in peripheral blood

द्वारा 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
प्रकाशित 2014

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

द्वारा 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
में प्रकाशित Am J Hum Genet (2016)

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

द्वारा 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
में प्रकाशित Nat Commun (2021)

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

द्वारा 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.
प्रकाशित 2014

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

द्वारा 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
प्रकाशित 2013

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

द्वारा 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
प्रकाशित 2012

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

द्वारा 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.
में प्रकाशित Nat Genet (2016)