Whole-genome sequencing of patients with rare diseases in a national health system

Turro, Ernest ; Astle, William J ; Megy, Karyn ; Gräf, Stefan ; Greene, Daniel ; Shamardina, Olga ; Allen, Hana Lango ; Sanchis-Juan, Alba ; Frontini, Mattia ; Thys, Chantal ; Stephens, Jonathan ; Mapeta, Rutendo ; Burren, Oliver S ; Downes, Kate ; Haimel, Matthias ; Tuna, Salih ; Deevi, Sri V V ; Aitman, Timothy J ; Bennett, David L ; Calleja, Paul ; Carss, Keren ; Caulfield, Mark J ; Chinnery, Patrick F ; Dixon, Peter H ; Gale, Daniel P ; James, Roger ; Koziell, Ania ; Laffan, Michael A ; Levine, Adam P ; Maher, Eamonn R ; Markus, Hugh S ; Morales, Joannella ; Morrell, Nicholas W ; Mumford, Andrew D ; Ormondroyd, Elizabeth ; Rankin, Stuart ; Rendon, Augusto ; Richardson, Sylvia ; Roberts, Irene ; Roy, Noemi B A ; Saleem, Moin A ; Smith, Kenneth G C ; Stark, Hannah ; Tan, Rhea Y Y ; Themistocleous, Andreas C ; Thrasher, Adrian J ; Watkins, Hugh ; Webster, Andrew R ; Wilkins, Martin R ; Williamson, Catherine ; Whitworth, James ; Humphray, Sean ; Bentley, David R ; Kingston, Nathalie ; Walker, Neil ; Bradley, John R ; Ashford, Sofie ; Penkett, Christopher J ; Freson, Kathleen ; Stirrups, Kathleen E ; Raymond, F Lucy ; Ouwehand, Willem H

England: Nature Publishing Group

Texto completo disponível

BNT162b vaccines protect rhesus macaques from SARS-CoV-2

Vogel, Annette B ; Kanevsky, Isis ; Che, Ye ; Swanson, Kena A ; Muik, Alexander ; Vormehr, Mathias ; Kranz, Lena M ; Walzer, Kerstin C ; Hein, Stephanie ; Güler, Alptekin ; Loschko, Jakob ; Maddur, Mohan S ; Ota-Setlik, Ayuko ; Tompkins, Kristin ; Cole, Journey ; Lui, Bonny G ; Ziegenhals, Thomas ; Plaschke, Arianne ; Eisel, David ; Dany, Sarah C ; Fesser, Stephanie ; Erbar, Stephanie ; Bates, Ferdia ; Schneider, Diana ; Jesionek, Bernadette ; Sänger, Bianca ; Wallisch, Ann-Kathrin ; Feuchter, Yvonne ; Junginger, Hanna ; Krumm, Stefanie A ; Heinen, André P ; Adams-Quack, Petra ; Schlereth, Julia ; Schille, Stefan ; Kröner, Christoph ; de la Caridad Güimil Garcia, Ramón ; Hiller, Thomas ; Fischer, Leyla ; Sellers, Rani S ; Choudhary, Shambhunath ; Gonzalez, Olga ; Vascotto, Fulvia ; Gutman, Matthew R ; Fontenot, Jane A ; Hall-Ursone, Shannan ; Brasky, Kathleen ; Griffor, Matthew C ; Han, Seungil ; Su, Andreas A H ; Lees, Joshua A ; Nedoma, Nicole L ; Mashalidis, Ellene H ; Sahasrabudhe, Parag V ; Tan, Charles Y ; Pavliakova, Danka ; Singh, Guy ; Fontes-Garfias, Camila ; Pride, Michael ; Scully, Ingrid L ; Ciolino, Tara ; Obregon, Jennifer ; Gazi, Michal ; Carrion, Jr, Ricardo ; Alfson, Kendra J ; Kalina, Warren V ; Kaushal, Deepak ; Shi, Pei-Yong ; Klamp, Thorsten ; Rosenbaum, Corinna ; Kuhn, Andreas N ; Türeci, Özlem ; Dormitzer, Philip R ; Jansen, Kathrin U ; Sahin, Ugur

England: Nature Publishing Group

Texto completo disponível

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Thaventhiran, James E D ; Lango Allen, Hana ; Burren, Oliver S ; Rae, William ; Greene, Daniel ; Staples, Emily ; Zhang, Zinan ; Farmery, James H R ; Simeoni, Ilenia ; Rivers, Elizabeth ; Maimaris, Jesmeen ; Penkett, Christopher J ; Stephens, Jonathan ; Deevi, Sri V V ; Sanchis-Juan, Alba ; Gleadall, Nicholas S ; Thomas, Moira J ; Sargur, Ravishankar B ; Gordins, Pavels ; Baxendale, Helen E ; Brown, Matthew ; Tuijnenburg, Paul ; Worth, Austen ; Hanson, Steven ; Linger, Rachel J ; Buckland, Matthew S ; Rayner-Matthews, Paula J ; Gilmour, Kimberly C ; Samarghitean, Crina ; Seneviratne, Suranjith L ; Sansom, David M ; Lynch, Andy G ; Megy, Karyn ; Ellinghaus, Eva ; Ellinghaus, David ; Jorgensen, Silje F ; Karlsen, Tom H ; Stirrups, Kathleen E ; Cutler, Antony J ; Kumararatne, Dinakantha S ; Chandra, Anita ; Edgar, J David M ; Herwadkar, Archana ; Cooper, Nichola ; Grigoriadou, Sofia ; Huissoon, Aarnoud P ; Goddard, Sarah ; Jolles, Stephen ; Schuetz, Catharina ; Boschann, Felix ; Lyons, Paul A ; Hurles, Matthew E ; Savic, Sinisa ; Burns, Siobhan O ; Kuijpers, Taco W ; Turro, Ernest ; Ouwehand, Willem H ; Thrasher, Adrian J ; Smith, Kenneth G C

England: Nature Publishing Group

Texto completo disponível

CSMD1 Is a Novel Multiple Domain Complement-Regulatory Protein Highly Expressed in the Central Nervous System and Epithelial Tissues

Kraus, Damian M ; Elliott, Gary S ; Chute, Hilary ; Horan, Thomas ; Pfenninger, Karl H ; Sanford, Staci D ; Foster, Stephen ; Scully, Sheila ; Welcher, Andrew A ; Holers, V. Michael

United States: Am Assoc Immnol

Texto completo disponível

Publisher Correction: Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

Cortés-Ciriano, Isidro ; Lee, Jake June-Koo ; Xi, Ruibin ; Jain, Dhawal ; Jung, Youngsook L ; Yang, Lixing ; Gordenin, Dmitry ; Klimczak, Leszek J ; Zhang, Cheng-Zhong ; Pellman, David S ; Park, Peter J

United States: Nature Publishing Group

Texto completo disponível

The European Hematology Association Roadmap for European Hematology Research: a consensus document

Engert, Andreas ; Balduini, Carlo ; Brand, Anneke ; Coiffier, Bertrand ; Cordonnier, Catherine ; Döhner, Hartmut ; de Wit, Thom Duyvené ; Eichinger, Sabine ; Fibbe, Willem ; Green, Tony ; de Haas, Fleur ; Iolascon, Achille ; Jaffredo, Thierry ; Rodeghiero, Francesco ; Salles, Gilles ; Schuringa, Jan Jacob

Italy: Ferrata Storti Foundation

Texto completo disponível

Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Thaventhiran, James E D ; Lango Allen, Hana ; Burren, Oliver S ; Rae, William ; Greene, Daniel ; Staples, Emily ; Zhang, Zinan ; Farmery, James H R ; Simeoni, Ilenia ; Rivers, Elizabeth ; Maimaris, Jesmeen ; Penkett, Christopher J ; Stephens, Jonathan ; Deevi, Sri V V ; Sanchis-Juan, Alba ; Gleadall, Nicholas S ; Thomas, Moira J ; Sargur, Ravishankar B ; Gordins, Pavels ; Baxendale, Helen E ; Brown, Matthew ; Tuijnenburg, Paul ; Worth, Austen ; Hanson, Steven ; Linger, Rachel J ; Buckland, Matthew S ; Rayner-Matthews, Paula J ; Gilmour, Kimberly C ; Samarghitean, Crina ; Seneviratne, Suranjith L ; Sansom, David M ; Lynch, Andy G ; Megy, Karyn ; Ellinghaus, Eva ; Ellinghaus, David ; Jorgensen, Silje F ; Karlsen, Tom H ; Stirrups, Kathleen E ; Cutler, Antony J ; Kumararatne, Dinakantha S ; Chandra, Anita ; Edgar, J David M ; Herwadkar, Archana ; Cooper, Nichola ; Grigoriadou, Sofia ; Huissoon, Aarnoud P ; Goddard, Sarah ; Jolles, Stephen ; Schuetz, Catharina ; Boschann, Felix ; Lyons, Paul A ; Hurles, Matthew E ; Savic, Sinisa ; Burns, Siobhan O ; Kuijpers, Taco W ; Turro, Ernest ; Ouwehand, Willem H ; Thrasher, Adrian J ; Smith, Kenneth G C

England: Nature Publishing Group

Texto completo disponível

Changes in cardiovascular signaling proteins during doxorubicin treatment in children with high-risk ALL

Miller, T. L. ; Lipshultz, S. E. ; Scully, R. E. ; Sawyer, D. ; Lipsitz, S. R. ; Silverman, L. B. ; Smith, H. ; Henkel, J. M. ; Franco, V. I. ; Cushman, L. L. ; Sallan, S. E.

Texto completo disponível

Late-onset homozygous protein C deficiency

Grundy, C.B ; Melissari, E ; Lindo, V ; Scully, M.F ; Kakkar, V.V ; Cooper, D.N

London: Elsevier Ltd

Texto completo disponível

Primer specific and mispair extension analysis (PSMEA) as a simple approach to fast genotyping

Hu, Yu-Wen ; Balaskas, Evan ; Kessler, Garry ; Issid, Claudia ; Scully, Linda J. ; Giulivi, Antonio ; Scalia, Vito ; Gill, Peter ; Murphy, Donald G. ; Rinfret, Aline

England: Oxford University Press

Texto completo disponível