Genome annotation for clinical genomic diagnostics: strengths and weaknesses

ανά Steward, Charles A., Parker, Alasdair P. J., Minassian, Berge A., Sisodiya, Sanjay M., Frankish, Adam, Harrow, Jennifer
Τόπος έκδοσης Genome Med (2017)

The B10 Idd9.3 locus mediates accumulation of functionally superior CD137(pos) T regulatory cells in the NOD Type 1 diabetes model

ανά Kachapati, Kritika, Adams, David E., Wu, Yuehong, Steward, Charles A., Rainbow, Daniel B., Wicker, Linda S., Mittler, Robert S., Ridgway, William M.
Έκδοση 2012

The non-obese diabetic mouse sequence, annotation and variation resource: an aid for investigating type 1 diabetes

ανά Steward, Charles A., Gonzalez, Jose M., Trevanion, Steve, Sheppard, Dan, Kerry, Giselle, Gilbert, James G. R., Wicker, Linda S., Rogers, Jane, Harrow, Jennifer L.
Έκδοση 2013

Fine mapping of type 1 diabetes regions Idd9.1 and Idd9.2 reveals genetic complexity

ανά Hamilton-Williams, Emma E., Rainbow, Daniel B., Cheung, Jocelyn, Christensen, Mikkel, Lyons, Paul A., Peterson, Laurence B., Steward, Charles A., Sherman, Linda A., Wicker, Linda S.
Έκδοση 2013

The Vertebrate Genome Annotation browser 10 years on

ανά Harrow, Jennifer L., Steward, Charles A., Frankish, Adam, Gilbert, James G., Gonzalez, Jose M., Loveland, Jane E., Mudge, Jonathan, Sheppard, Dan, Thomas, Mark, Trevanion, Stephen, Wilming, Laurens G.
Έκδοση 2014

NOD congenic strain analysis of autoimmune diabetes reveals genetic complexity of the Idd18 locus and identifies Vav3 as a candidate gene

ανά Fraser, Heather I., Dendrou, Calliope A., Healy, Barry, Rainbow, Daniel B., Howlett, Sarah, Smink, Luc J., Gregory, Simon, Steward, Charles A., Todd, John A., Peterson, Laurence B., Wicker, Linda S.
Έκδοση 2010

Characterization of an Additional Splice Acceptor Site Introduced into CYP4B1 in Hominoidae during Evolution

ανά Schmidt, Eva M., Wiek, Constanze, Parkinson, Oliver T., Roellecke, Katharina, Freund, Marcel, Gombert, Michael, Lottmann, Nadine, Steward, Charles A., Kramm, Christof M., Yarov-Yarovoy, Vladimir, Rettie, Allan E., Hanenberg, Helmut
Τόπος έκδοσης PLoS One (2015)

Genome‐wide association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug‐resistant epilepsy

ανά Schoeler, Natasha E., Leu, Costin, Balestrini, Simona, Mudge, Jonathan M., Steward, Charles A., Frankish, Adam, Leung, Mary‐Anne, Mackay, Mark, Scheffer, Ingrid, Williams, Ruth, Sander, Josemir W., Cross, J. Helen, Sisodiya, Sanjay M.
Τόπος έκδοσης Epilepsia (2018)

The future of genomics in Ireland – focus on genomics for health

ανά Seoighe, Cathal, Bracken, Adrian P., Buckley, Patrick, Doran, Peter, Green, Robert, Healy, Sandra, Kavanagh, David, Kenny, Elaine, Lawler, Mark, Lowery, Maeve, Morris, Derek, Morrissey, Darrin, O'Byrne, James J., Shields, Denis, Smith, Owen, Steward, Charles A., Sweeney, Brian, Kolch, Walter
Τόπος έκδοσης HRB Open Res (2020)

Ptpn22 and Cd2 Variations Are Associated with Altered Protein Expression and Susceptibility to Type 1 Diabetes in Nonobese Diabetic Mice

ανά Fraser, Heather I., Howlett, Sarah, Clark, Jan, Rainbow, Daniel B., Stanford, Stephanie M., Wu, Dennis J., Hsieh, Yi-Wen, Maine, Christian J., Christensen, Mikkel, Kuchroo, Vijay, Sherman, Linda A., Podolin, Patricia L., Todd, John A., Steward, Charles A., Peterson, Laurence B., Bottini, Nunzio, Wicker, Linda S.
Τόπος έκδοσης J Immunol (2015)

Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq)

ανά Lagarde, Julien, Uszczynska-Ratajczak, Barbara, Santoyo-Lopez, Javier, Gonzalez, Jose Manuel, Tapanari, Electra, Mudge, Jonathan M., Steward, Charles A., Wilming, Laurens, Tanzer, Andrea, Howald, Cédric, Chrast, Jacqueline, Vela-Boza, Alicia, Rueda, Antonio, Lopez-Domingo, Francisco J., Dopazo, Joaquin, Reymond, Alexandre, Guigó, Roderic, Harrow, Jennifer
Τόπος έκδοσης Nat Commun (2016)

Genome-wide end-sequenced BAC resources for the NOD/MrkTac(☆) and NOD/ShiLtJ(☆☆) mouse genomes

ανά Steward, Charles A., Humphray, Sean, Plumb, Bob, Jones, Matthew C., Quail, Michael A., Rice, Stephen, Cox, Tony, Davies, Rob, Bonfield, James, Keane, Thomas M., Nefedov, Michael, de Jong, Pieter J., Lyons, Paul, Wicker, Linda, Todd, John, Hayashizaki, Yoshihide, Gulban, Omid, Danska, Jayne, Harrow, Jen, Hubbard, Tim, Rogers, Jane, Adams, David J.
Έκδοση 2010

Evidence that Cd101 is an autoimmune diabetes gene in NOD mice

ανά Rainbow, Daniel B., Moule, Carolyn, Fraser, Heather I., Clark, Jan, Howlett, Sarah K., Burren, Oliver, Christensen, Mikkel, Moody, Val, Steward, Charles A., Mohammed, Javid P., Fusakio, Michael E., Masteller, Emma L., Finger, Erik B., Houchins, J. P., Naf, Dieter, Koentgen, Frank, Ridgway, William M., Todd, John A., Bluestone, Jeffrey A., Peterson, Laurence B., Mattner, Jochen, Wicker, Linda S.
Έκδοση 2011

A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability

ανά Benson, Katherine A., White, Maire, Allen, Nicholas M., Byrne, Susan, Carton, Robert, Comerford, Elizabeth, Costello, Daniel, Doherty, Colin, Dunleavey, Brendan, El-Naggar, Hany, Gangadharan, Nisha, Heavin, Sinéad, Kearney, Hugh, Lench, Nicholas J., Lynch, John, McCormack, Mark, Regan, Mary O’, Podesta, Karl, Power, Kevin, Rogers, Anthony S., Steward, Charles A., Sweeney, Brian, Webb, David, Fitzsimons, Mary, Greally, Marie, Delanty, Norman, Cavalleri, Gianpiero L.
Τόπος έκδοσης Eur J Hum Genet (2020)

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

ανά Steward, Charles A., Roovers, Jolien, Suner, Marie-Marthe, Gonzalez, Jose M., Uszczynska-Ratajczak, Barbara, Pervouchine, Dmitri, Fitzgerald, Stephen, Viola, Margarida, Stamberger, Hannah, Hamdan, Fadi F., Ceulemans, Berten, Leroy, Patricia, Nava, Caroline, Lepine, Anne, Tapanari, Electra, Keiller, Don, Abbs, Stephen, Sanchis-Juan, Alba, Grozeva, Detelina, Rogers, Anthony S., Diekhans, Mark, Guigó, Roderic, Petryszak, Robert, Minassian, Berge A., Cavalleri, Gianpiero, Vitsios, Dimitrios, Petrovski, Slavé, Harrow, Jennifer, Flicek, Paul, Lucy Raymond, F., Lench, Nicholas J., Jonghe, Peter De, Mudge, Jonathan M., Weckhuysen, Sarah, Sisodiya, Sanjay M., Frankish, Adam
Τόπος έκδοσης NPJ Genom Med (2019)

Mouse genomic variation and its effect on phenotypes and gene regulation

ανά Keane, Thomas M., Goodstadt, Leo, Danecek, Petr, White, Michael A., Wong, Kim, Yalcin, Binnaz, Heger, Andreas, Agam, Avigail, Slater, Guy, Goodson, Martin, Furlotte, Nicholas A., Eskin, Eleazar, Nellåker, Christoffer, Whitley, Helen, Cleak, James, Janowitz, Deborah, Hernandez-Pliego, Polinka, Edwards, Andrew, Belgard, T. Grant, Oliver, Peter L., McIntyre, Rebecca E., Bhomra, Amarjit, Nicod, Jérôme, Gan, Xiangchao, Yuan, Wei, van der Weyden, Louise, Steward, Charles A., Balasubramaniam, Sendu, Stalker, Jim, Mott, Richard, Durbin, Richard, Jackson, Ian J., Czechanski, Anne, Assunção, José Afonso Guerra, Donahue, Leah Rae, Reinholdt, Laura G., Payseur, Bret A., Ponting, Chris P., Birney, Ewan, Flint, Jonathan, Adams, David J.
Έκδοση 2011

Current status and new features of the Consensus Coding Sequence database

ανά Farrell, Catherine M., O’Leary, Nuala A., Harte, Rachel A., Loveland, Jane E., Wilming, Laurens G., Wallin, Craig, Diekhans, Mark, Barrell, Daniel, Searle, Stephen M. J., Aken, Bronwen, Hiatt, Susan M., Frankish, Adam, Suner, Marie-Marthe, Rajput, Bhanu, Steward, Charles A., Brown, Garth R., Bennett, Ruth, Murphy, Michael, Wu, Wendy, Kay, Mike P., Hart, Jennifer, Rajan, Jeena, Weber, Janet, Snow, Catherine, Riddick, Lillian D., Hunt, Toby, Webb, David, Thomas, Mark, Tamez, Pamela, Rangwala, Sanjida H., McGarvey, Kelly M., Pujar, Shashikant, Shkeda, Andrei, Mudge, Jonathan M., Gonzalez, Jose M., Gilbert, James G. R., Trevanion, Stephen J., Baertsch, Robert, Harrow, Jennifer L., Hubbard, Tim, Ostell, James M., Haussler, David, Pruitt, Kim D.
Έκδοση 2014

The DNA sequence of the human X chromosome

ανά Ross, Mark T., Grafham, Darren V., Coffey, Alison J., Scherer, Steven, McLay, Kirsten, Muzny, Donna, Platzer, Matthias, Howell, Gareth R., Burrows, Christine, Bird, Christine P., Frankish, Adam, Lovell, Frances L., Howe, Kevin L., Ashurst, Jennifer L., Fulton, Robert S., Sudbrak, Ralf, Wen, Gaiping, Jones, Matthew C., Hurles, Matthew E., Andrews, T. Daniel, Scott, Carol E., Searle, Stephen, Ramser, Juliane, Whittaker, Adam, Deadman, Rebecca, Carter, Nigel P., Hunt, Sarah E., Chen, Rui, Cree, Andrew, Gunaratne, Preethi, Havlak, Paul, Hodgson, Anne, Metzker, Michael L., Richards, Stephen, Scott, Graham, Steffen, David, Sodergren, Erica, Wheeler, David A., Worley, Kim C., Ainscough, Rachael, Ambrose, Kerrie D., Ansari-Lari, M. Ali, Aradhya, Swaroop, Ashwell, Robert I. S., Babbage, Anne K., Bagguley, Claire L., Ballabio, Andrea, Banerjee, Ruby, Barker, Gary E., Barlow, Karen F., Barrett, Ian P., Bates, Karen N., Beare, David M., Beasley, Helen, Beasley, Oliver, Beck, Alfred, Bethel, Graeme, Blechschmidt, Karin, Brady, Nicola, Bray-Allen, Sarah, Bridgeman, Anne M., Brown, Andrew J., Brown, Mary J., Bonnin, David, Bruford, Elspeth A., Buhay, Christian, Burch, Paula, Burford, Deborah, Burgess, Joanne, Burrill, Wayne, Burton, John, Bye, Jackie M., Carder, Carol, Carrel, Laura, Chako, Joseph, Chapman, Joanne C., Chavez, Dean, Chen, Ellson, Chen, Guan, Chen, Yuan, Chen, Zhijian, Chinault, Craig, Ciccodicola, Alfredo, Clark, Sue Y., Clarke, Graham, Clee, Chris M., Clegg, Sheila, Clerc-Blankenburg, Kerstin, Clifford, Karen, Cobley, Vicky, Cole, Charlotte G., Conquer, Jen S., Corby, Nicole, Connor, Richard E., David, Robert, Davies, Joy, Davis, Clay, Davis, John, Delgado, Oliver, DeShazo, Denise, Dhami, Pawandeep, Ding, Yan, Dinh, Huyen, Dodsworth, Steve, Draper, Heather, Dugan-Rocha, Shannon, Dunham, Andrew, Dunn, Matthew, Durbin, K. James, Dutta, Ireena, Eades, Tamsin, Ellwood, Matthew, Emery-Cohen, Alexandra, Errington, Helen, Evans, Kathryn L., Faulkner, Louisa, Francis, Fiona, Frankland, John, Fraser, Audrey E., Galgoczy, Petra, Gilbert, James, Gill, Rachel, Glöckner, Gernot, Gregory, Simon G., Gribble, Susan, Griffiths, Coline, Grocock, Russell, Gu, Yanghong, Gwilliam, Rhian, Hamilton, Cerissa, Hart, Elizabeth A., Hawes, Alicia, Heath, Paul D., Heitmann, Katja, Hennig, Steffen, Hernandez, Judith, Hinzmann, Bernd, Ho, Sarah, Hoffs, Michael, Howden, Phillip J., Huckle, Elizabeth J., Hume, Jennifer, Hunt, Paul J., Hunt, Adrienne R., Isherwood, Judith, Jacob, Leni, Johnson, David, Jones, Sally, de Jong, Pieter J., Joseph, Shirin S., Keenan, Stephen, Kelly, Susan, Kershaw, Joanne K., Khan, Ziad, Kioschis, Petra, Klages, Sven, Knights, Andrew J., Kosiura, Anna, Kovar-Smith, Christie, Laird, Gavin K., Langford, Cordelia, Lawlor, Stephanie, Leversha, Margaret, Lewis, Lora, Liu, Wen, Lloyd, Christine, Lloyd, David M., Loulseged, Hermela, Loveland, Jane E., Lovell, Jamieson D., Lozado, Ryan, Lu, Jing, Lyne, Rachael, Ma, Jie, Maheshwari, Manjula, Matthews, Lucy H., McDowall, Jennifer, McLaren, Stuart, McMurray, Amanda, Meidl, Patrick, Meitinger, Thomas, Milne, Sarah, Miner, George, Mistry, Shailesh L., Morgan, Margaret, Morris, Sidney, Müller, Ines, Mullikin, James C., Nguyen, Ngoc, Nordsiek, Gabriele, Nyakatura, Gerald, O’Dell, Christopher N., Okwuonu, Geoffery, Palmer, Sophie, Pandian, Richard, Parker, David, Parrish, Julia, Pasternak, Shiran, Patel, Dina, Pearce, Alex V., Pearson, Danita M., Pelan, Sarah E., Perez, Lesette, Porter, Keith M., Ramsey, Yvonne, Reichwald, Kathrin, Rhodes, Susan, Ridler, Kerry A., Schlessinger, David, Schueler, Mary G., Sehra, Harminder K., Shaw-Smith, Charles, Shen, Hua, Sheridan, Elizabeth M., Shownkeen, Ratna, Skuce, Carl D., Smith, Michelle L., Sotheran, Elizabeth C., Steingruber, Helen E., Steward, Charles A., Storey, Roy, Swann, R. Mark, Swarbreck, David, Tabor, Paul E., Taudien, Stefan, Taylor, Tineace, Teague, Brian, Thomas, Karen, Thorpe, Andrea, Timms, Kirsten, Tracey, Alan, Trevanion, Steve, Tromans, Anthony C., d’Urso, Michele, Verduzco, Daniel, Villasana, Donna, Waldron, Lenee, Wall, Melanie, Wang, Qiaoyan, Warren, James, Warry, Georgina L., Wei, Xuehong, West, Anthony, Whitehead, Siobhan L., Whiteley, Mathew N., Wilkinson, Jane E., Willey, David L., Williams, Gabrielle, Williams, Leanne, Williamson, Angela, Williamson, Helen, Wilming, Laurens, Woodmansey, Rebecca L., Wray, Paul W., Yen, Jennifer, Zhang, Jingkun, Zhou, Jianling, Zoghbi, Huda, Zorilla, Sara, Buck, David, Reinhardt, Richard, Poustka, Annemarie, Rosenthal, André, Lehrach, Hans, Meindl, Alfons, Minx, Patrick J., Hillier, LaDeana W., Willard, Huntington F., Wilson, Richard K., Waterston, Robert H., Rice, Catherine M., Vaudin, Mark, Coulson, Alan, Nelson, David L., Weinstock, George, Sulston, John E., Durbin, Richard, Hubbard, Tim, Gibbs, Richard A., Beck, Stephan, Rogers, Jane, Bentley, David R.
Έκδοση 2005