Diphthamide Modification of EEF2 Requires a J-domain Protein and is Essential for Normal Development

di Webb, Tom R, Cross, Sally H., McKie, Lisa, Edgar, Ruth, Vizor, Lucie, Harrison, Jackie, Peters, Jo, Jackson, Ian J.
Pubblicazione 2008

Fam151b, the mouse homologue of C.elegans menorin gene, is essential for retinal function

di Findlay, Amy S., McKie, Lisa, Keighren, Margaret, Clementson-Mobbs, Sharon, Sanchez-Pulido, Luis, Wells, Sara, Cross, Sally H., Jackson, Ian J.
Pubblicato in Sci Rep (2020)

The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype

di Cross, Sally H., McKie, Lisa, West, Katrine, Coghill, Emma L., Favor, Jack, Bhattacharya, Shoumo, Brown, Steve D.M., Jackson, Ian J.
Pubblicazione 2011

Normal X-inactivation mosaicism in corneas of heterozygous Flna(Dilp2/+ )female mice--a model of human Filamin A (FLNA) diseases

di Douvaras, Panagiotis, Liu, Weijia, Mort, Richard L, McKie, Lisa, West, Katrine M, Cross, Sally H, Morley, Steven D, West, John D
Pubblicazione 2012

Palmitoylation Regulates Epidermal Homeostasis and Hair Follicle Differentiation

di Mill, Pleasantine, Lee, Angela W. S., Fukata, Yuko, Tsutsumi, Ryouhei, Fukata, Masaki, Keighren, Margaret, Porter, Rebecca M., McKie, Lisa, Smyth, Ian, Jackson, Ian J.
Pubblicazione 2009

Mouse Slc9a8 Mutants Exhibit Retinal Defects Due to Retinal Pigmented Epithelium Dysfunction

di Jadeja, Shalini, Barnard, Alun R., McKie, Lisa, Cross, Sally H., White, Jacqueline K., Robertson, Morag, Budd, Peter S., MacLaren, Robert E., Jackson, Ian J.
Pubblicato in Invest Ophthalmol Vis Sci (2015)

Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function

di 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.
Pubblicato in Dis Model Mech (2018)

A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton

di Carpanini, Sarah M., McKie, Lisa, Thomson, Derek, Wright, Ann K., Gordon, Sarah L., Roche, Sarah L., Handley, Mark T., Morrison, Harris, Brownstein, David, Wishart, Thomas M., Cousin, Michael A., Gillingwater, Thomas H., Aligianis, Irene A., Jackson, Ian J.
Pubblicazione 2014

A Dominant-Negative Mutation of Mouse Lmx1b Causes Glaucoma and Is Semi-lethal via LBD1-Mediated Dimerisation

di Cross, Sally H., Macalinao, Danilo G., McKie, Lisa, Rose, Lorraine, Kearney, Alison L., Rainger, Joe, Thaung, Caroline, Keighren, Margaret, Jadeja, Shalini, West, Katrine, Kneeland, Stephen C., Smith, Richard S., Howell, Gareth R., Young, Fiona, Robertson, Morag, van t' Hof, Rob, John, Simon W. M., Jackson, Ian J.
Pubblicazione 2014

Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

di Rainger, Joe, van Beusekom, Ellen, Ramsay, Jacqueline K., McKie, Lisa, Al-Gazali, Lihadh, Pallotta, Rosanna, Saponari, Anita, Branney, Peter, Fisher, Malcolm, Morrison, Harris, Bicknell, Louise, Gautier, Philippe, Perry, Paul, Sokhi, Kishan, Sexton, David, Bardakjian, Tanya M., Schneider, Adele S., Elcioglu, Nursel, Ozkinay, Ferda, Koenig, Rainer, Mégarbané, Andre, Semerci, C. Nur, Khan, Ayesha, Zafar, Saemah, Hennekam, Raoul, Sousa, Sérgio B., Ramos, Lina, Garavelli, Livia, Furga, Andrea Superti, Wischmeijer, Anita, Jackson, Ian J., Gillessen-Kaesbach, Gabriele, Brunner, Han G., Wieczorek, Dagmar, van Bokhoven, Hans, FitzPatrick, David R.
Pubblicazione 2011

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins

di Hall, Emma A., Nahorski, Michael S., Murray, Lyndsay M., Shaheen, Ranad, Perkins, Emma, Dissanayake, Kosala N., Kristaryanto, Yosua, Jones, Ross A., Vogt, Julie, Rivagorda, Manon, Handley, Mark T., Mali, Girish R., Quidwai, Tooba, Soares, Dinesh C., Keighren, Margaret A., McKie, Lisa, Mort, Richard L., Gammoh, Noor, Garcia-Munoz, Amaya, Davey, Tracey, Vermeren, Matthieu, Walsh, Diana, Budd, Peter, Aligianis, Irene A., Faqeih, Eissa, Quigley, Alan J., Jackson, Ian J., Kulathu, Yogesh, Jackson, Mandy, Ribchester, Richard R., von Kriegsheim, Alex, Alkuraya, Fowzan S., Woods, C. Geoffrey, Maher, Eamonn R., Mill, Pleasantine
Pubblicato in Am J Hum Genet (2017)

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

di Rainger, Joe, van Beusekom, Ellen, Ramsay, Jacqueline K., McKie, Lisa, Al-Gazali, Lihadh, Pallotta, Rosanna, Saponari, Anita, Branney, Peter, Fisher, Malcolm, Morrison, Harris, Bicknell, Louise, Gautier, Philippe, Perry, Paul, Sokhi, Kishan, Sexton, David, Bardakjian, Tanya M., Schneider, Adele S., Elcioglu, Nursel, Ozkinay, Ferda, Koenig, Rainer, Mégarbané, Andre, Semerci, C. Nur, Khan, Ayesha, Zafar, Saemah, Hennekam, Raoul, Sousa, Sérgio B., Ramos, Lina, Garavelli, Livia, Furga, Andrea Superti, Wischmeijer, Anita, Jackson, Ian J., Gillessen-Kaesbach, Gabriele, Brunner, Han G., Wieczorek, Dagmar, van Bokhoven, Hans, FitzPatrick, David R.
Pubblicato in PLoS Genet (2018)

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

di McEntagart, Meriel, Williamson, Kathleen A., Rainger, Jacqueline K., Wheeler, Ann, Seawright, Anne, De Baere, Elfride, Verdin, Hannah, Bergendahl, L. Therese, Quigley, Alan, Rainger, Joe, Dixit, Abhijit, Sarkar, Ajoy, López Laso, Eduardo, Sanchez-Carpintero, Rocio, Barrio, Jesus, Bitoun, Pierre, Prescott, Trine, Riise, Ruth, McKee, Shane, Cook, Jackie, McKie, Lisa, Ceulemans, Berten, Meire, Françoise, Temple, I. Karen, Prieur, Fabienne, Williams, Jonathan, Clouston, Penny, Németh, Andrea H., Banka, Siddharth, Bengani, Hemant, Handley, Mark, Freyer, Elisabeth, Ross, Allyson, van Heyningen, Veronica, Marsh, Joseph A., Elmslie, Frances, FitzPatrick, David R.
Pubblicato in Am J Hum Genet (2016)

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

di Dodd, Daniel O, Mechaussier, Sabrina, Yeyati, Patricia L, McPhie, Fraser, Anderson, Jacob R, Khoo, Chen Jing, Shoemark, Amelia, Gupta, Deepesh K, Attard, Thomas, Zariwala, Maimoona A, Legendre, Marie, Bracht, Diana, Wallmeier, Julia, Gui, Miao, Fassad, Mahmoud R, Parry, David A, Tennant, Peter A, Meynert, Alison, Wheway, Gabrielle, Fares-Taie, Lucas, Black, Holly A, Mitri-Frangieh, Rana, Faucon, Catherine, Kaplan, Josseline, Patel, Mitali, McKie, Lisa, Megaw, Roly, Gatsogiannis, Christos, Mohamed, Mai A, Aitken, Stuart, Gautier, Philippe, Reinholt, Finn R, Hirst, Robert A, O’Callaghan, Chris, Heimdal, Ketil, Bottier, Mathieu, Escudier, Estelle, Crowley, Suzanne, Descartes, Maria, Jabs, Ethylin W, Kenia, Priti, Amiel, Jeanne, Bacci, Giacomo Maria, Calogero, Claudia, Palazzo, Viviana, Tiberi, Lucia, Blümlein, Ulrike, Rogers, Andrew, Wambach, Jennifer A, Wegner, Daniel J, Fulton, Anne B, Kenna, Margaret, Rosenfeld, Margaret, Holm, Ingrid A, Quigley, Alan, Hall, Emma A, Murphy, Laura C, Cassidy, Diane M, von Kriegsheim, Alex, Papon, Jean-François, Pasquier, Laurent, Murris, Marlène S, Chalmers, James D, Hogg, Claire, Macleod, Kenneth A, Urquhart, Don S, Unger, Stefan, Aitman, Timothy J, Amselem, Serge, Leigh, Margaret W, Knowles, Michael R., Omran, Heymut, Mitchison, Hannah M, Brown, Alan, Marsh, Joseph A, Welburn, Julie P I, Ti, Shih-Chieh, Horani, Amjad, Rozet, Jean-Michel, Perrault, Isabelle, Mill, Pleasantine
Pubblicato in Science (2024)