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The expanding global genomics landscape: Converging priorities from national genomics programs 不断扩大的全球基因组学格局: 来自国家基因组学计划的优先事项 Howley, Caitlin; Haas, Matilda A.; Muftah, Wadha A. Al; Annan, Robert B.; Green, Eric D.; Lundgren, Bettina; Scott, Richard H.; Stark, Zornitza; Tan, Patrick; North, Kathryn N.; Boughtwood, Tiffany 分享 收藏
A call to action to scale up research and clinical genomic data sharing 呼吁采取行动扩大研究和临床基因组数据共享 Stark, Zornitza; Glazer, David; Hofmann, Oliver; Rendon, Augusto; Marshall, Christian R.; Ginsburg, Geoffrey S.; Lunt, Chris; Allen, Naomi; Effingham, Mark; Ward, Jillian Hastings; Hill, Sue L.; Ali, Raghib; Goodhand, Peter; Page, Angela; Rehm, Heidi L.; North, Kathryn N.; Scott, Richard H. 分享 收藏
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access Ellard, Sian; Morgan, Sian; Wynn, Sarah L.; Walker, Susan; Parrish, Andrew; Mein, Rachael; Juett, Ana; Ahn, Joo Wook; Berry, Ian; Cassidy, Emma-Jane; Durkie, Miranda; Fish, Louise; Hall, Richard; Howard, Emma; Rankin, Julia; Wright, Caroline F.; Deans, Zandra C.; Scott, Richard H.; Hill, Sue L.; Baple, Emma L.; Taylor, Robert W. 分享 收藏
Exploring the benefits, harms and costs of genomic newborn screening for rare diseases 探索罕见病基因组新生儿筛查的益处，危害和成本 Baple, Emma L.; Scott, Richard H.; Banka, Siddharth; Buchanan, James; Fish, Louise; Wynn, Sarah; Wilkinson, Dominic; Ellard, Sian; MacArthur, Daniel G.; Stark, Zornitza 分享 收藏
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Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features Robbe, Pauline; Ridout, Kate E.; Vavoulis, Dimitrios V.; Dreau, Helene; Kinnersley, Ben; Denny, Nicholas; Chubb, Daniel; Appleby, Niamh; Cutts, Anthony; Cornish, Alex J.; Lopez-Pascua, Laura; Clifford, Ruth; Burns, Adam; Stamatopoulos, Basile; Cabes, Maite; Alsolami, Reem; Antoniou, Pavlos; Oates, Melanie; Cavalieri, Doriane; Consortium, Genomics England Research; Consortium, Cll Pilot; Gibson, Jane; Prabhu, Anika, V; Schwessinger, Ron; Jennings, Daisy; James, Terena; Maheswari, Uma; Duran-Ferrer, Marti; Carninci, Piero; Knight, Samantha J. L.; Mansson, Robert; Hughes, Jim; Davies, James; Ross, Mark; Bentley, David; Strefford, Jonathan C.; Devereux, Stephen; Pettitt, Andrew R.; Hillmen, Peter; Caulfield, Mark J.; Houlston, Richard S.; Martin-Subero, Jose, I; Schuh, Anna 分享 收藏
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia Reid, Kimberley M.; Spaull, Robert; Salian, Smrithi; Barwick, Katy; Meyer, Esther; Zhen, Juan; Hirata, Hiromi; Sheipouri, Diba; Benkerroum, Hind; Gorman, Kathleen M.; Papandreou, Apostolos; Simpson, Michael A.; Hirano, Yoshinobu; Farabella, Irene; Topf, Maya; Grozeva, Detelina; Carss, Keren; Smith, Martin; Pall, Hardev; Lunt, Peter; De Gressi, Susanna; Kamsteeg, Erik-Jan; Haack, Tobias B.; Carr, Lucinda; Guerreiro, Rita; Bras, Jose; Maher, Eamonn R.; Scott, Richard H.; Vandenberg, Robert J.; Raymond, F. Lucy; Chong, Wui K.; Sudhakar, Sniya; Mankad, Kshitij; Reith, Maarten E.; Campeau, Philippe M.; Harvey, Robert J.; Kurian, Manju A. 分享 收藏
Newborn Screening by Genomic Sequencing: Opportunities and Challenges 通过基因组测序进行新生儿筛查: 机遇与挑战 Bick, David; Ahmed, Arzoo; Deen, Dasha; Ferlini, Alessandra; Garnier, Nicolas; Kasperaviciute, Dalia; Leblond, Mathilde; Pichini, Amanda; Rendon, Augusto; Satija, Aditi; Tuff-Lacey, Alice; Scott, Richard H. 分享 收藏
Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy Spielmann, Nadine; Miller, Gregor; Oprea, Tudor I.; Hsu, Chih-Wei; Fobo, Gisela; Frishman, Goar; Montrone, Corinna; Haseli Mashhadi, Hamed; Mason, Jeremy; Munoz Fuentes, Violeta; Leuchtenberger, Stefanie; Ruepp, Andreas; Wagner, Matias; Westphal, Dominik S.; Wolf, Cordula; Goerlach, Agnes; Sanz-Moreno, Adrian; Cho, Yi-Li; Teperino, Raffaele; Brandmaier, Stefan; Sharma, Sapna; Galter, Isabella Rikarda; Oestereicher, Manuela A.; Zapf, Lilly; Mayer-Kuckuk, Philipp; Rozman, Jan; Teboul, Lydia; Bunton-Stasyshyn, Rosie K. A.; Cater, Heather; Stewart, Michelle; Christou, Skevoulla; Westerberg, Henrik; Willett, Amelia M.; Wotton, Janine M.; Roper, Willson B.; Christiansen, Audrey E.; Ward, Christopher S.; Heaney, Jason D.; Reynolds, Corey L.; Prochazka, Jan; Bower, Lynette; Clary, David; Selloum, Mohammed; Bou About, Ghina; Wendling, Olivia; Jacobs, Hugues; Leblanc, Sophie; Meziane, Hamid; Sorg, Tania; Audain, Enrique; Gilly, Arthur; Rayner, Nigel W.; Aguilar-Pimentel, Juan A.; Becker, Lore; Garrett, Lillian; Hoelter, Sabine M.; Amarie, Oana V.; Calzada-Wack, Julia; Klein-Rodewald, Tanja; da Silva-Buttkus, Patricia; Lengger, Christoph; Stoeger, Claudia; Gerlini, Raffaele; Rathkolb, Birgit; Mayr, Daniela; Seavitt, John; Gaspero, Angelina; Green, Jennie R.; Garza, Arturo; Bohat, Ritu; Wong, Leeyean; Mcelwee, Melissa L.; Kalaga, Sowmya; Rasmussen, Tara L.; Lorenzo, Isabel; Lanza, Denise G.; Samaco, Rodney C.; Veeraragaven, Surabi; Gallegos, Juan J.; Kasparek, Petr; Petrezselyova, Silvia; King, Ruairidh; Johnson, Sara; Cleak, James; Szkoe-Kovacs, Zsombor; Codner, Gemma; Mackenzie, Matthew; Caulder, Adam; Kenyon, Janet; Gardiner, Wendy; Phelps, Hayley; Hancock, Rhys; Norris, Claire; Moore, Michayla A.; Seluke, Audrie M.; Urban, Rachel; Kane, Coleen; Goodwin, Leslie O.; Peterson, Kevin A.; Mckay, Matthew; Cook, Jenn J.; Lowy, Jacob P.; Mcfarland, Michael; Wood, Joshua A.; Willis, Brandon J.; Tolentino, Heather; Tolentino, Todd; Schuchbauer, Michael; Salazar, Jason; Johnson, Jennifer; Munson, Rebecca; Ayadi, Abdel; Pavlovic, Guillaume; Birling, Marie-Christine; Jacquot, Sylvie; Ali-Hadji, Dalila; Charles, Philippe; Andre, Philippe; Champy, Marie-France; Riet, Fabrice; Vukobradovic, Igor; Berberovic, Zorana; Qu, Dawei; Guo, Ruolin; D'Souza, Abigail; Huang, Ziyue; Camilleri, Susan; Ganguly, Milan; Adissu, Hibret; Eskandarian, Mohammed; Shang, Xueyuan; Duffin, Kyle; Xu, Catherine; Roberton, Kyle; Laurin, Valerie; Lan, Qing; Sleep, Gillian; Creighton, Amie; Lintott, Lauri; Gertsenstein, Marina; Pereira, Monica; Tondat, Sandra; Patel, Amit; Cruz, Maribelle; Bezginov, Alex; Miller, David; Hy, Wang; Yoshiki, Atsushi; Tanaka, Nobuhiko; Tamura, Masaru; Liu, Zhiwei; Ermakova, Olga; Ferrara, Anna; Fruscoloni, Paolo; Seisenberger, Claudia; Buerger, Antje; Giesert, Florian; Ambrose, J. C.; Gam, Arumu P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C. R.; Brittain, H.; Caulfield, M. J.; Chan, G. C.; Fowler, T.; Giess, A.; Hamblin, A.; Henderson, S.; Hubbard, T. J. P.; Jackson, R.; Jones, L. J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Leigh, S. E. A.; Leong, I. U. S.; Lopez, F. J.; Maleady-Crowe, F.; Mcentagart, M.; Minneci, F.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A. C.; O'Donovan, P.; Odhams, C. A.; Patch, C.; Perez-Gil, D.; Pereira, M. B.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; Savage, K.; Sawant, K.; Scott, R. H.; Siddiq, A.; Sieghart, A.; Smith, S. C.; Sosinsky, A.; Stuckey, A.; Tanguy, M.; Taylor-Tavares, A. L.; Thomas, E. R. A.; Thompson, S. R.; Tucci, A.; Welland, M. J.; Williams, E.; Witkowska, K.; Wood, S. M.; Hitz, Marc-Phillip; Zeggini, Eleftheria; Wolf, Eckhard; Sedlacek, Radislav; Murray, Steven A.; Svenson, Karen L.; Braun, Robert E.; White, Jaqueline K.; Kelsey, Lois; Gao, Xiang; Shiroishi, Toshihiko; Xu, Ying; Seong, Je Kyung; Mammano, Fabio; Tocchini-Valentini, Glauco P.; Beaudet, Arthur L.; Meehan, Terrence F.; Parkinson, Helen; Smedley, Damian; Mallon, Ann-Marie; Wells, Sara E.; Grallert, Harald; Wurst, Wolfgang; Marschall, Susan; Fuchs, Helmut; Brown, Steve D. M.; Flenniken, Ann M.; Nutter, Lauryl M. J.; Mckerlie, Colin; Herault, Yann; Lloyd, K. C. Kent; Dickinson, Mary E.; Gailus-Durner, Valerie; Hrabe de Angelis, Martin 分享 收藏
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution 通过协作方法解决不一致问题，扩大虚拟基因面板策展的国家和国际改进 Stark, Zornitza; Foulger, Rebecca E.; Williams, Eleanor; Thompson, Bryony A.; Patel, Chirag; Lunke, Sebastian; Snow, Catherine; Leong, Ivone U. S.; Puzriakova, Arina; Daugherty, Louise C.; Leigh, Sarah; Boustred, Christopher; Niblock, Olivia; Rueda-Martin, Antonio; Gerasimenko, Oleg; Savage, Kevin; Bellamy, William; Lin, Victor San Kho; Valls, Roman; Gordon, Lavinia; Brittain, Helen K.; Thomas, Ellen R. A.; Tavares, Ana Lisa Taylor; McEntagart, Meriel; White, Susan M.; Tan, Tiong Y.; Yeung, Alison; Downie, Lilian; Macciocca, Ivan; Savva, Elena; Lee, Crystle; Roesley, Ain; De Fazio, Paul; Deller, Jane; Deans, Zandra C.; Hill, Sue L.; Caulfield, Mark J.; North, Kathryn N.; Scott, Richard H.; Rendon, Augusto; Hofmann, Oliver; McDonagh, Ellen M. 分享 收藏
Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era Forny, Patrick; Footitt, Emma; Davison, James E.; Lam, Amanda; Woodward, Cathy E.; Batzios, Spyros; Bhate, Sanjay; Chakrapani, Anupam; Cleary, Maureen; Gissen, Paul; Grunewald, Stephanie; Hurst, Jane A.; Scott, Richard; Heales, Simon; Jacques, Thomas S.; Cullup, Thomas; Rahman, Shamima 分享 收藏
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
Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder Myers, Kenneth A.; Marini, Carla; Carvill, Gemma L.; McTague, Amy; Panetta, Julie; Stutterd, Chloe; Stanley, Thorsten; Marin, Samantha; Nguyen, John; Barba, Carmen; Rosati, Anna; Scott, Richard H.; Mefford, Heather C.; Guerrini, Renzo; Scheffer, Ingrid E. 分享 收藏
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome Alharatani, Reham; Ververi, Athina; Beleza-Meireles, Ana; Ji, Weizhen; Mis, Emily; Patterson, Quinten T.; Griffin, John N.; Bhujel, Nabina; Chang, Caitlin A.; Dixit, Abhijit; Konstantino, Monica; Healy, Christopher; Hannan, Sumayyah; Neo, Natsuko; Cash, Alex; Li, Dong; Bhoj, Elizabeth; Zackai, Elaine H.; Cleaver, Ruth; Baralle, Diana; McEntagart, Meriel; Newbury-Ecob, Ruth; Scott, Richard; Hurst, Jane A.; Au, Ping Yee Billie; Hosey, Marie Therese; Khokha, Mustafa; Marciano, Denise K.; Lakhani, Saquib A.; Liu, Karen J. 分享 收藏
KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement Nemani, Tarishi; Steel, Dora; Kaliakatsos, Marios; DeVile, Catherine; Ververi, Athina; Scott, Richard; Getov, Spas; Sudhakar, Sniya; Male, Alison; Mankad, Kshitij; Muntoni, Francesco; Reilly, Mary M.; Kurian, Manju A.; Carr, Lucinda; Munot, Pinki 分享 收藏
Human and mouse essentiality screens as a resource for disease gene discovery Cacheiro, Pilar; Munoz-Fuentes, Violeta; Murray, Stephen A.; Dickinson, Mary E.; Bucan, Maja; Nutter, Lauryl M. J.; Peterson, Kevin A.; Haselimashhadi, Hamed; Flenniken, Ann M.; Morgan, Hugh; Westerberg, Henrik; Konopka, Tomasz; Hsu, Chih-Wei; Christiansen, Audrey; Lanza, Denise G.; Beaudet, Arthur L.; Heaney, Jason D.; Fuchs, Helmut; Gailus-Durner, Valerie; Sorg, Tania; Prochazka, Jan; Novosadova, Vendula; Lelliott, Christopher J.; Wardle-Jones, Hannah; Wells, Sara; Teboul, Lydia; Cater, Heather; Stewart, Michelle; Hough, Tertius; Wurst, Wolfgang; Sedlacek, Radislav; Adams, David J.; Seavitt, John R.; Tocchini-Valentini, Glauco; Mammano, Fabio; Braun, Robert E.; McKerlie, Colin; Herault, Yann; de Angelis, Martin Hrabe; Mallon, Ann-Marie; Lloyd, K. C. Kent; Brown, Steve D. M.; Parkinson, Helen; Meehan, Terrence F.; Smedley, Damian; Ambrose, J. C.; Arumugam, P.; Baple, E. L.; Bleda, M.; Boardman-Pretty, F.; Boissiere, J. M.; Boustred, C. R.; Brittain, H.; Caulfield, M. J.; Chan, G. C.; Craig, C. E. H.; Daugherty, L. C.; de Burca, A.; Devereau, A.; Elgar, G.; Foulger, R. E.; Fowler, T.; Furio-Tari, P.; Hackett, J. M.; Halai, D.; Hamblin, A.; Henderson, S.; Holman, J. E.; Hubbard, T. J. P.; Ibanez, K.; Jackson, R.; Jones, L. J.; Kasperaviciute, D.; Kayikci, M.; Lahnstein, L.; Lawson, K.; Leigh, S. E. A.; Leong, I. U. S.; Lopez, F. J.; Maleady-Crowe, F.; Mason, J.; McDonagh, E. M.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A. C.; Odhams, C. A.; Patch, C.; Perez-Gil, D.; Polychronopoulos, D.; Pullinger, J.; Rahim, T.; Rendon, A.; Riesgo-Ferreiro, P.; Rogers, T.; Ryten, M.; Savage, K.; Sawant, K.; Scott, R. H.; Siddiq, A.; Sieghart, A.; Smith, K. R.; Sosinsky, A.; Spooner, W.; Stevens, H. E.; Stuckey, A.; Sultana, R.; Thomas, E. R. A.; Thompson, S. R.; Tregidgo, C.; Tucci, A.; Walsh, E.; Watters, S. A.; Welland, M. J.; Williams, E.; Witkowska, K.; Wood, S. M.; Zarowiecki, M.; Marschall, Susan; Lengger, Christoph; Maier, Holger; Seisenberger, Claudia; Buerger, Antje; Kuehn, Ralf; Schick, Joel; Hoerlein, Andreas; Oritz, Oskar; Giesert, Florian; Beig, Joachim; Kenyon, Janet; Codner, Gemma; Fray, Martin; Johnson, Sara J.; Cleak, James; Szoke-Kovacs, Zsombor; Lafont, David; Vancollie, Valerie E.; McLaren, Robbie S. B.; Hughes-Hallett, Lena; Rowley, Christine; Sanderson, Emma; Galli, Antonella; Tuck, Elizabeth; Green, Angela; Tudor, Catherine; Siragher, Emma; Dabrowska, Monika; Mazzeo, Cecilia Icoresi; Griffiths, Mark; Gannon, David; Doe, Brendan; Cockle, Nicola; Kirton, Andrea; Bottomley, Joanna; Ingle, Catherine; Ryder, Edward; Gleeson, Diane; Ramirez-Solis, Ramiro; Birling, Marie-Christine; Pavlovic, Guillaume; Ayadi, Abdel; Hamid, Meziane; About, Ghina Bou; Champy, Marie-France; Jacobs, Hugues; Wendling, Olivia; Leblanc, Sophie; Vasseur, Laurent; Chesler, Elissa J.; Kumar, Vivek; White, Jacqueline K.; Svenson, Karen L.; Wiegand, Jean-Paul; Anderson, Laura L.; Wilcox, Troy; Clark, James; Ryan, Jennifer; Denegre, James; Stearns, Tim; Philip, Vivek; Witmeyer, Catherine; Bates, Lindsay; Seavey, Zachary; Stanley, Pamela; Willet, Amelia; Roper, Willson; Creed, Julie; Moore, Michayla; Dorr, Alex; Fraungruber, Pamelia; Presby, Rose; Mckay, Matthew; Nguyen-Bresinsky, Dong; Goodwin, Leslie; Urban, Rachel; Kane, Coleen 分享 收藏
DELIVERING THE 100,000 GENOMES PROJECT TO ESTABLISH THE FUNCTIONAL ROLE OF DNA SEQUENCE VARIANTS IN RESPIRATORY RARE DISEASES Shovlin, C. L.; Morris-Rosendahl, D. J.; Copeland, F.; De Soyza, A.; Hogg, C.; Jenkins, G.; Marciniak, S. J.; Lovett, M.; Moffatt, M. F.; Cookson, W. O. C.; Alikian, M.; Hasan, S.; Slade, R.; Xiao, S.; Boardman-Pretty, F.; Brown, D.; Caulfield, M.; Devereau, A.; Fowler, T.; McDonagh, E.; Scott, R.; Thomas, E. R. A.; Alton, E. W. F. W. 分享 收藏
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels Martin, Antonio Rueda; Williams, Eleanor; Foulger, Rebecca E.; Leigh, Sarah; Daugherty, Louise C.; Niblock, Olivia; Leong, Ivone U. S.; Smith, Katherine R.; Gerasimenko, Oleg; Haraldsdottir, Eik; Thomas, Ellen; Scott, Richard H.; Baple, Emma; Tucci, Arianna; Brittain, Helen; de Burca, Anna; Ibanez, Kristina; Kasperaviciute, Dalia; Smedley, Damian; Caulfield, Mark; Rendon, Augusto; McDonagh, Ellen M. 分享 收藏
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