未登录 A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage Zou, Xueqing; Koh, Gene Ching Chiek; Nanda, Arjun Scott; Degasperi, Andrea; Urgo, Katie; Roumeliotis, Theodoros I.; Agu, Chukwuma A.; Badja, Cherif; Momen, Sophie; Young, Jamie; Amarante, Tauanne Dias; Side, Lucy; Brice, Glen; Perez-Alonso, Vanesa; Rueda, Daniel; Gomez, Celine; Bushell, Wendy; Harris, Rebecca; Choudhary, Jyoti S.; Ambrose, John C.; Arumugam, Prabhu; Baple, Emma L.; Bleda, Marta; Boardman-Pretty, Freya; Boissiere, Jeanne M.; Boustred, Christopher R.; Brittain, Helen; Caulfield, Mark J.; Chan, Georgia C.; Craig, Clare E. H.; Daugherty, Louise C.; de Burca, Anna; Devereau, Andrew; Elgar, Greg; Foulger, Rebecca E.; Fowler, Tom; Furio-Tari, Pedro; Giess, Adam; Hackett, Joanne M.; Halai, Dina; Hamblin, Angela; Henderson, Shirley; Holman, James E.; Hubbard, Tim J. P.; Ibanez, Kristina; Jackson, Rob; Jones, Louise J.; Kasperaviciute, Dalia; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Lawson, Kay; Leigh, Sarah E. A.; Leong, Ivonne U. S.; Lopez, Javier F.; Maleady-Crowe, Fiona; Mason, Joanne; McDonagh, Ellen M.; Moutsianas, Loukas; Mueller, Michael; Murugaesu, Nirupa; Need, Anna C.; O'Donovan, Pter; Odhams, Chris A.; Orioli, Andrea; Patch, Christine; Pereira, Mariana Buongermino; Perez-Gil, Daniel; Polychronopoulos, Dimitris; Pullinger, John; Rahim, Tahrima; Rendon, Augusto; Riesgo-Ferreiro, Pablo; Rogers, Tim; Ryten, Mina; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smedley, Damian; Smith, Katherine R.; Smith, Samuel C.; Sosinsky, Alona; Spooner, William; Stevens, Helen E.; Stuckey, Alexander; Sultana, Razvan; Tanguy, Melanie; Thomas, Ellen R. A.; Thompson, Simon R.; Tregidgo, Carolyn; Tucci, Arianna; Walsh, Emma; Watters, Sarah A.; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.; Zarowiecki, Magdalena; Jiricny, Josef; Skarnes, William C.; Nik-Zainal, Serena 分享 收藏
Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis (vol 6, 8035, 2015) Fotiou, Elisavet; Martin-Almedina, Silvia; Simpson, Michael A.; Lin, Shin; Gordon, Kristiana; Brice, Glen; Atton, Giles; Jeffery, Iona; Rees, David C.; Mignot, Cyril; Vogt, Julie; Homfray, Tessa; Snyder, Michael P.; Rockson, Stanley G.; Jeffery, Steve; Mortimer, Peter S.; Mansour, Sahar; Ostergaard, Pia 分享 收藏
Human venous valve disease caused by mutations in FOXC2 and GJC2 Lyons, Oliver; Saha, Prakash; Seet, Christopher; Kuchta, Adam; Arnold, Andrew; Grover, Steven; Rashbrook, Victoria; Sabine, Amelie; Vizcay-Barrena, Gema; Patel, Ash; Ludwinski, Francesca; Padayachee, Soundrie; Kume, Tsutomu; Kwak, Brenda R.; Brice, Glen; Mansour, Sahar; Ostergaard, Pia; Mortimer, Peter; Jeffery, Steve; Brown, Nigel; Makinen, Taija; Petrova, Tatiana V.; Modarai, Bijan; Smith, Alberto 分享 收藏
EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis Martin-Almedina, Silvia; Martinez-Corral, Ines; Holdhus, Rita; Vicente, Andres; Fotiou, Elisavet; Lin, Shin; Petersen, Kjell; Simpson, Michael A.; Hoischen, Alexander; Gilissen, Christian; Jeffery, Heather; Atton, Giles; Karapouliou, Christina; Brice, Glen; Gordon, Kristiana; Wiseman, John W.; Wedin, Marianne; Rockson, Stanley G.; Jeffery, Steve; Mortimer, Peter S.; Snyder, Michael P.; Berland, Siren; Mansour, Sahar; Makinen, Taija; Ostergaard, Pia 分享 收藏
Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis Fotiou, Elisavet; Martin-Almedina, Silvia; Simpson, Michael A.; Lin, Shin; Gordon, Kristiana; Brice, Glen; Atton, Giles; Jeffery, Iona; Rees, David C.; Mignot, Cyril; Vogt, Julie; Homfray, Tessa; Snyder, Michael P.; Rockson, Stanley G.; Jeffery, Steve; Mortimer, Peter S.; Mansour, Sahar; Ostergaard, Pia 分享 收藏
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Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations Jones, Gabriela E.; Ostergaard, Pia; Moore, Anthony T.; Connell, Fiona C.; Williams, Denise; Quarrell, Oliver; Brady, Angela F.; Spier, Isabel; Hazan, Filiz; Moldovan, Oana; Wieczorek, Dagmar; Mikat, Barbara; Petit, Florence; Coubes, Christine; Saul, Robert A.; Brice, Glen; Gordon, Kristiana; Jeffery, Steve; Mortimer, Peter S.; Vasudevan, Pradeep C.; Mansour, Sahar 分享 收藏
Mutation in Vascular Endothelial Growth Factor-C, a Ligand for Vascular Endothelial Growth Factor Receptor-3, Is Associated With Autosomal Dominant Milroy-Like Primary Lymphedema 血管内皮生长因子受体-3的配体血管内皮生长因子-C突变与常染色体显性Milroy样原发性淋巴水肿相关 Gordon, Kristiana; Schulte, Dorte; Brice, Glen; Simpson, Michael A.; Roukens, M. Guy; van Impel, Andreas; Connell, Fiona; Kalidas, Kamini; Jeffery, Steve; Mortimer, Peter S.; Mansour, Sahar; Schulte-Merker, Stefan; Ostergaard, Pia 分享 收藏
FLT4/VEGFR3 and Milroy Disease: Novel Mutations, a Review of Published Variants and Database Update Gordon, Kristiana; Spiden, Sarah L.; Connell, Fiona C.; Brice, Glen; Cottrell, Sally; Short, John; Taylor, Rohan; Jeffery, Steve; Mortimer, Peter S.; Mansour, Sahar; Ostergaard, Pia 分享 收藏
Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy Ostergaard, Pia; Simpson, Michael A.; Mendola, Antonella; Vasudevan, Pradeep; Connell, Fiona C.; van Impel, Andreas; Moore, Anthony T.; Loeys, Bart L.; Ghalamkarpour, Arash; Onoufriadis, Alexandros; Martinez-Corral, Ines; Devery, Sophie; Leroy, Jules G.; van Laer, Lut; Singer, Amihood; Bialer, Martin G.; McEntagart, Meriel; Quarrell, Oliver; Brice, Glen; Trembath, Richard C.; Schulte-Merker, Stefan; Makinen, Taija; Vikkula, Miikka; Mortimer, Peter S.; Mansour, Sahar; Jeffery, Steve 分享 收藏
Gene-gene interactions in breast cancer susceptibility Turnbull, Clare; Seal, Sheila; Renwick, Anthony; Warren-Perry, Margaret; Hughes, Deborah; Elliott, Anna; Pernet, David; Peock, Susan; Adlard, Julian W.; Barwell, Julian; Berg, Jonathan; Brady, Angela F.; Brewer, Carole; Brice, Glen; Chapman, Cyril; Cook, Jackie; Davidson, Rosemarie; Donaldson, Alan; Douglas, Fiona; Greenhalgh, Lynn; Henderson, Alex; Izatt, Louise; Kumar, Ajith; Lalloo, Fiona; Miedzybrodzka, Zosia; Morrison, Patrick J.; Paterson, Joan; Porteous, Mary; Rogers, Mark T.; Shanley, Susan; Walker, Lisa; Ahmed, Munaza; Eccles, Diana; Evans, D. Gareth; Donnelly, Peter; Easton, Douglas F.; Stratton, Michael R.; Rahman, Nazneen 分享 收藏
Germline mutations in RAD51D confer susceptibility to ovarian cancer Loveday, Chey; Turnbull, Clare; Ramsay, Emma; Hughes, Deborah; Ruark, Elise; Frankum, Jessica R.; Bowden, Georgina; Kalmyrzaev, Bolot; Warren-Perry, Margaret; Snape, Katie; Adlard, Julian W.; Barwell, Julian; Berg, Jonathan; Brady, Angela F.; Brewer, Carole; Brice, Glen; Chapman, Cyril; Cook, Jackie; Davidson, Rosemarie; Donaldson, Alan; Douglas, Fiona; Greenhalgh, Lynn; Henderson, Alex; Izatt, Louise; Kumar, Ajith; Lalloo, Fiona; Miedzybrodzka, Zosia; Morrison, Patrick J.; Paterson, Joan; Porteous, Mary; Rogers, Mark T.; Shanley, Susan; Walker, Lisa; Eccles, Diana; Evans, D. Gareth; Renwick, Anthony; Seal, Sheila; Lord, Christopher J.; Ashworth, Alan; Reis-Filho, Jorge S.; Antoniou, Antonis C.; Rahman, Nazneen 分享 收藏
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Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype Ostergaard, Pia; Simpson, Michael A.; Brice, Glen; Mansour, Sahar; Connell, Fiona C.; Onoufriadis, Alexandros; Child, Anne H.; Hwang, Jae; Kalidas, Kamini; Mortimer, Peter S.; Trembath, Richard; Jeffery, Steve 分享 收藏
Legius Syndrome in Fourteen Families Denayer, Ellen; Chmara, Magdalena; Brems, Hilde; Kievit, Anneke Maat; van Bever, Yolande; Van den Ouweland, Ans M. W.; Van Minkelen, Rick; de Goede-Bolder, Arja; Oostenbrink, Rianne; Lakeman, Phillis; Beert, Eline; Ishizaki, Takuma; Mori, Tomoaki; Keymolen, Kathelijn; Van den Ende, Jenneke; Mangold, Elisabeth; Peltonen, Sirkku; Brice, Glen; Rankin, Julia; Van Spaendonck-Zwarts, Karin Y.; Yoshimura, Akihiko; Legius, Eric 分享 收藏
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Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia Connell, Fiona; Kalidas, Kamini; Ostergaard, Pia; Brice, Glen; Homfray, Tessa; Roberts, Lesley; Bunyan, David J.; Mitton, Sally; Mansour, Sahar; Mortimer, Peter; Jeffery, Steve 分享 收藏
Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas (vol 124, pg 625, 2009) Connell, F. C.; Ostergaard, P.; Carver, C.; Brice, G.; Williams, N.; Mansour, S.; Mortimer, P. S.; Jeffery, Steve 分享 收藏
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