High throughput sequencing approaches to mutation discovery in the mouse

Por Simon, Michelle M, Mallon, Ann-Marie, Howell, Gareth R., Reinholdt, Laura G.
Publicado em 2012

Interactions between the otitis media gene, Fbxo11, and p53 in the mouse embryonic lung

Por Tateossian, Hilda, Morse, Susan, Simon, Michelle M., Dean, Charlotte H., Brown, Steve D. M.
Publicado no Dis Model Mech (2015)

Current strategies for mutation detection in phenotype-driven screens utilising next generation sequencing

Por Simon, Michelle M., Moresco, Eva Marie Y., Bull, Katherine R., Kumar, Saumya, Mallon, Ann-Marie, Beutler, Bruce, Potter, Paul K.
Publicado no Mamm Genome (2015)

A holistic view of mouse enhancer architectures reveals analogous pleiotropic effects and correlation with human disease

Por Sethi, Siddharth, Vorontsov, Ilya E., Kulakovskiy, Ivan V., Greenaway, Simon, Williams, John, Makeev, Vsevolod J., Brown, Steve D. M., Simon, Michelle M., Mallon, Ann-Marie
Publicado no BMC Genomics (2020)

Correction of the auditory phenotype in C57BL/6N mice via CRISPR/Cas9-mediated homology directed repair

Por Mianné, Joffrey, Chessum, Lauren, Kumar, Saumya, Aguilar, Carlos, Codner, Gemma, Hutchison, Marie, Parker, Andrew, Mallon, Ann-Marie, Wells, Sara, Simon, Michelle M., Teboul, Lydia, Brown, Steve D. M., Bowl, Michael R.
Publicado no Genome Med (2016)

Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function

Por Findlay, Amy S., Carter, Roderick N., Starbuck, Becky, McKie, Lisa, Nováková, Klára, Budd, Peter S., Keighren, Margaret A., Marsh, Joseph A., Cross, Sally H., Simon, Michelle M., Potter, Paul K., Morton, Nicholas M., Jackson, Ian J.
Publicado no Dis Model Mech (2018)

A mutation in Nischarin causes otitis media via LIMK1 and NF-κB pathways

Por Crompton, Michael, Purnell, Tom, Tyrer, Hayley E., Parker, Andrew, Ball, Greg, Hardisty-Hughes, Rachel E., Gale, Richard, Williams, Debbie, Dean, Charlotte H., Simon, Michelle M., Mallon, Ann-Marie, Wells, Sara, Bhutta, Mahmood F., Burton, Martin J., Tateossian, Hilda, Brown, Steve D. M.
Publicado no PLoS Genet (2017)

An N‐Ethyl‐N‐Nitrosourea (ENU) Mutagenized Mouse Model for Autosomal Dominant Nonsyndromic Kyphoscoliosis Due to Vertebral Fusion

Por Esapa, Christopher T, Piret, Sian E, Nesbit, M Andrew, Thomas, Gethin P, Coulton, Leslie A, Gallagher, Orla M, Simon, Michelle M, Kumar, Saumya, Mallon, Ann‐Marie, Bellantuono, Ilaria, Brown, Matthew A, Croucher, Peter I, Potter, Paul K, Brown, Steve DM, Cox, Roger D, Thakker, Rajesh V
Publicado no JBMR Plus (2018)

Unlocking the Bottleneck in Forward Genetics Using Whole-Genome Sequencing and Identity by Descent to Isolate Causative Mutations

Por Bull, Katherine R., Rimmer, Andrew J., Siggs, Owen M., Miosge, Lisa A., Roots, Carla M., Enders, Anselm, Bertram, Edward M., Crockford, Tanya L., Whittle, Belinda, Potter, Paul K., Simon, Michelle M., Mallon, Ann-Marie, Brown, Steve D. M., Beutler, Bruce, Goodnow, Christopher C., Lunter, Gerton, Cornall, Richard J.
Publicado em 2013

Application of long single-stranded DNA donors in genome editing: generation and validation of mouse mutants

Por Codner, Gemma F., Mianné, Joffrey, Caulder, Adam, Loeffler, Jorik, Fell, Rachel, King, Ruairidh, Allan, Alasdair J., Mackenzie, Matthew, Pike, Fran J., McCabe, Christopher V., Christou, Skevoulla, Joynson, Sam, Hutchison, Marie, Stewart, Michelle E., Kumar, Saumya, Simon, Michelle M., Agius, Loranne, Anstee, Quentin M., Volynski, Kirill E., Kullmann, Dimitri M., Wells, Sara, Teboul, Lydia
Publicado no BMC Biol (2018)

The Regulatory Factor ZFHX3 Modifies Circadian Function in SCN via an AT Motif-Driven Axis

Por Parsons, Michael J., Brancaccio, Marco, Sethi, Siddharth, Maywood, Elizabeth S., Satija, Rahul, Edwards, Jessica K., Jagannath, Aarti, Couch, Yvonne, Finelli, Mattéa J., Smyllie, Nicola J., Esapa, Christopher, Butler, Rachel, Barnard, Alun R., Chesham, Johanna E., Saito, Shoko, Joynson, Greg, Wells, Sara, Foster, Russell G., Oliver, Peter L., Simon, Michelle M., Mallon, Ann-Marie, Hastings, Michael H., Nolan, Patrick M.
Publicado no Cell (2015)

An N‐Ethyl‐N‐Nitrosourea (ENU)‐Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice

Por Gorvin, Caroline M, Ahmad, Bushra N, Stechman, Michael J, Loh, Nellie Y, Hough, Tertius A, Leo, Paul, Marshall, Mhairi, Sethi, Siddharth, Bentley, Liz, Piret, Sian E, Reed, Anita, Jeyabalan, Jeshmi, Christie, Paul T, Wells, Sara, Simon, Michelle M, Mallon, Ann‐Marie, Schulz, Herbert, Huebner, Norbert, Brown, Matthew A, Cox, Roger D, Brown, Steve D, Thakker, Rajesh V
Publicado no J Bone Miner Res (2018)

Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis

Por Gorvin, Caroline M, Loh, Nellie Y, Stechman, Michael J, Falcone, Sara, Hannan, Fadil M, Ahmad, Bushra N, Piret, Sian E, Reed, Anita AC, Jeyabalan, Jeshmi, Leo, Paul, Marshall, Mhairi, Sethi, Siddharth, Bass, Paul, Roberts, Ian, Sanderson, Jeremy, Wells, Sara, Hough, Tertius A, Bentley, Liz, Christie, Paul T, Simon, Michelle M, Mallon, Ann‐Marie, Schulz, Herbert, Cox, Roger D, Brown, Matthew A, Huebner, Norbert, Brown, Steve D, Thakker, Rajesh V
Publicado no J Bone Miner Res (2019)

Clarin‐2 is essential for hearing by maintaining stereocilia integrity and function

Por Dunbar, Lucy A, Patni, Pranav, Aguilar, Carlos, Mburu, Philomena, Corns, Laura, Wells, Helena RR, Delmaghani, Sedigheh, Parker, Andrew, Johnson, Stuart, Williams, Debbie, Esapa, Christopher T, Simon, Michelle M, Chessum, Lauren, Newton, Sherylanne, Dorning, Joanne, Jeyarajan, Prashanthini, Morse, Susan, Lelli, Andrea, Codner, Gemma F, Peineau, Thibault, Gopal, Suhasini R, Alagramam, Kumar N, Hertzano, Ronna, Dulon, Didier, Wells, Sara, Williams, Frances M, Petit, Christine, Dawson, Sally J, Brown, Steve DM, Marcotti, Walter, El‐Amraoui, Aziz, Bowl, Michael R
Publicado no EMBO Mol Med (2019)

Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition

Por Small, Kerrin S., Todorčević, Marijana, Civelek, Mete, El-Sayed Moustafa, Julia S., Wang, Xiao, Simon, Michelle M., Fernandez-Tajes, Juan, Mahajan, Anubha, Horikoshi, Momoko, Hugill, Alison, Glastonbury, Craig A., Quaye, Lydia, Neville, Matt J., Sethi, Siddharth, Yon, Marianne, Pan, Calvin, Che, Nam, Viñuela, Ana, Tsai, Pei-Chien, Nag, Abhishek, Buil, Alfonso, Thorleifsson, Gudmar, Raghavan, Avanthi, Ding, Qiurong, Morris, Andrew P., Bell, Jordana T., Thorsteinsdottir, Unnur, Stefansson, Kari, Laakso, Markku, Dahlman, Ingrid, Arner, Peter, Gloyn, Anna L., Musunuru, Kiran, Lusis, Aldons J., Cox, Roger, Karpe, Fredrik, McCarthy, Mark I.
Publicado no Nat Genet (2018)

Novel gene function revealed by mouse mutagenesis screens for models of age-related disease

Por Potter, Paul K., Bowl, Michael R., Jeyarajan, Prashanthini, Wisby, Laura, Blease, Andrew, Goldsworthy, Michelle E., Simon, Michelle M., Greenaway, Simon, Michel, Vincent, Barnard, Alun, Aguilar, Carlos, Agnew, Thomas, Banks, Gareth, Blake, Andrew, Chessum, Lauren, Dorning, Joanne, Falcone, Sara, Goosey, Laurence, Harris, Shelley, Haynes, Andy, Heise, Ines, Hillier, Rosie, Hough, Tertius, Hoslin, Angela, Hutchison, Marie, King, Ruairidh, Kumar, Saumya, Lad, Heena V., Law, Gemma, MacLaren, Robert E., Morse, Susan, Nicol, Thomas, Parker, Andrew, Pickford, Karen, Sethi, Siddharth, Starbuck, Becky, Stelma, Femke, Cheeseman, Michael, Cross, Sally H., Foster, Russell G., Jackson, Ian J., Peirson, Stuart N., Thakker, Rajesh V., Vincent, Tonia, Scudamore, Cheryl, Wells, Sara, El-Amraoui, Aziz, Petit, Christine, Acevedo-Arozena, Abraham, Nolan, Patrick M., Cox, Roger, Mallon, Anne-Marie, Brown, Steve D. M.
Publicado no Nat Commun (2016)

A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction

Por Bowl, Michael R., Simon, Michelle M., Ingham, Neil J., Greenaway, Simon, Santos, Luis, Cater, Heather, Taylor, Sarah, Mason, Jeremy, Kurbatova, Natalja, Pearson, Selina, Bower, Lynette R., Clary, Dave A., Meziane, Hamid, Reilly, Patrick, Minowa, Osamu, Kelsey, Lois, Tocchini-Valentini, Glauco P., Gao, Xiang, Bradley, Allan, Skarnes, William C., Moore, Mark, Beaudet, Arthur L., Justice, Monica J., Seavitt, John, Dickinson, Mary E., Wurst, Wolfgang, de Angelis, Martin Hrabe, Herault, Yann, Wakana, Shigeharu, Nutter, Lauryl M. J., Flenniken, Ann M., McKerlie, Colin, Murray, Stephen A., Svenson, Karen L., Braun, Robert E., West, David B., Lloyd, K. C. Kent, Adams, David J., White, Jacqui, Karp, Natasha, Flicek, Paul, Smedley, Damian, Meehan, Terrence F., Parkinson, Helen E., Teboul, Lydia M., Wells, Sara, Steel, Karen P., Mallon, Ann-Marie, Brown, Steve D. M.
Publicado no Nat Commun (2017)

A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains

Por Simon, Michelle M, Greenaway, Simon, White, Jacqueline K, Fuchs, Helmut, Gailus-Durner, Valérie, Wells, Sara, Sorg, Tania, Wong, Kim, Bedu, Elodie, Cartwright, Elizabeth J, Dacquin, Romain, Djebali, Sophia, Estabel, Jeanne, Graw, Jochen, Ingham, Neil J, Jackson, Ian J, Lengeling, Andreas, Mandillo, Silvia, Marvel, Jacqueline, Meziane, Hamid, Preitner, Frédéric, Puk, Oliver, Roux, Michel, Adams, David J, Atkins, Sarah, Ayadi, Abdel, Becker, Lore, Blake, Andrew, Brooker, Debra, Cater, Heather, Champy, Marie-France, Combe, Roy, Danecek, Petr, di Fenza, Armida, Gates, Hilary, Gerdin, Anna-Karin, Golini, Elisabetta, Hancock, John M, Hans, Wolfgang, Hölter, Sabine M, Hough, Tertius, Jurdic, Pierre, Keane, Thomas M, Morgan, Hugh, Müller, Werner, Neff, Frauke, Nicholson, George, Pasche, Bastian, Roberson, Laura-Anne, Rozman, Jan, Sanderson, Mark, Santos, Luis, Selloum, Mohammed, Shannon, Carl, Southwell, Anne, Tocchini-Valentini, Glauco P, Vancollie, Valerie E, Westerberg, Henrik, Wurst, Wolfgang, Zi, Min, Yalcin, Binnaz, Ramirez-Solis, Ramiro, Steel, Karen P, Mallon, Ann-Marie, de Angelis, Martin Hrabě, Herault, Yann, Brown, Steve DM
Publicado em 2013