High throughput sequencing approaches to mutation discovery in the mouse

av Simon, Michelle M, Mallon, Ann-Marie, Howell, Gareth R., Reinholdt, Laura G.
Publicerad 2012

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

av Tateossian, Hilda, Morse, Susan, Simon, Michelle M., Dean, Charlotte H., Brown, Steve D. M.
I publikationen Dis Model Mech (2015)

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

av Simon, Michelle M., Moresco, Eva Marie Y., Bull, Katherine R., Kumar, Saumya, Mallon, Ann-Marie, Beutler, Bruce, Potter, Paul K.
I publikationen Mamm Genome (2015)

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

av 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
I publikationen BMC Genomics (2020)

Sizing, stabilising, and cloning repeat-expansions for gene targeting constructs

av Nair, Remya R., Tibbit, Charlotte, Thompson, David, McLeod, Ross, Nakhuda, Asif, Simon, Michelle M., Baloh, Robert H., Fisher, Elizabeth M.C., Isaacs, Adrian M., Cunningham, Thomas J.
I publikationen Methods (2021)

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

av 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.
I publikationen Genome Med (2016)

Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function

av 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.
I publikationen Dis Model Mech (2018)

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

av 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.
I publikationen PLoS Genet (2017)

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

av 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
I publikationen JBMR Plus (2018)

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

av 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.
Publicerad 2013

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

av 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
I publikationen BMC Biol (2018)

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

av 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.
I publikationen 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

av 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
I publikationen J Bone Miner Res (2018)

Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis

av 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
I publikationen J Bone Miner Res (2019)

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

av 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
I publikationen EMBO Mol Med (2019)

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

av 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.
I publikationen Nat Genet (2018)

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

av 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.
I publikationen Nat Commun (2016)

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

av 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.
I publikationen Nat Commun (2017)

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

av 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
Publicerad 2013