Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
Material Type: Artigo
|
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndromeALBERS, Cornelis A ; PAUL, Dirk S ; BREUNING, Martijn H ; DEBILI, Najet ; DELOUKAS, Panos ; FAVIER, Rémi ; FIEDLER, Janine ; HOBBS, Catherine M ; NI HUANG ; HURLES, Matthew E ; KIDDLE, Graham ; KRAPELS, Ingrid ; SCHULZE, Harald ; NURDEN, Paquita ; RUIVENKAMP, Claudia A. L ; SAMBROOK, Jennifer G ; SMITH, Kenneth ; STEMPLE, Derek L ; STRAUSS, Gabriele ; THYS, Chantal ; GEET, Chrisvan ; NEWBURY-ECOB, Ruth ; OUWEHAND, Willemh ; FRESON, Kathleen ; GHEVAERT, Cedric ; STEPHENS, Jonathan C ; SMETHURST, Peter A ; JOLLEY, Jennifer D ; CVEJIC, Ana ; KOSTADIMA, Myrto ; BERTONE, PaulNature genetics, 2012-04, Vol.44 (4), p.435-439 [Periódico revisado por pares]New York, NY: Nature Publishing GroupTexto completo disponível |
|
2 |
Material Type: Artigo
|
Leukemia-Associated Somatic Mutations Drive Distinct Patterns of Age-Related Clonal HemopoiesisMcKerrell, Thomas ; Park, Naomi ; Moreno, Thaidy ; Grove, Carolyn S. ; Ponstingl, Hannes ; Stephens, Jonathan ; Crawley, Charles ; Craig, Jenny ; Scott, Mike A. ; Hodkinson, Clare ; Baxter, Joanna ; Rad, Roland ; Forsyth, Duncan R. ; Quail, Michael A. ; Zeggini, Eleftheria ; Ouwehand, Willem ; Varela, Ignacio ; Vassiliou, George S.Cell reports (Cambridge), 2015-03, Vol.10 (8), p.1239-1245 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
|
3 |
Material Type: Artigo
|
Germline mutations in the transcription factor IKZF5 cause thrombocytopeniaLentaigne, Claire ; Greene, Daniel ; Sivapalaratnam, Suthesh ; Favier, Remi ; Seyres, Denis ; Thys, Chantal ; Grassi, Luigi ; Mangles, Sarah ; Sibson, Keith ; Stubbs, Matthew ; Burden, Frances ; Bordet, Jean-Claude ; Armari-Alla, Corinne ; Erber, Wendy ; Farrow, Samantha ; Gleadall, Nicholas ; Gomez, Keith ; Megy, Karyn ; Papadia, Sofia ; Penkett, Christopher J. ; Sims, Matthew C. ; Stefanucci, Luca ; Stephens, Jonathan C. ; Read, Randy J. ; Stirrups, Kathleen E. ; Ouwehand, Willem H. ; Laffan, Michael A. ; Frontini, Mattia ; Freson, Kathleen ; Turro, ErnestBlood, 2019-12, Vol.134 (23), p.2070-2081 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
|
4 |
Material Type: Artigo
|
Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasiaShovlin, Claire L. ; Simeoni, Ilenia ; Downes, Kate ; Frazer, Zoe C. ; Megy, Karyn ; Bernabeu-Herrero, Maria E. ; Shurr, Abigail ; Brimley, Jennifer ; Patel, Dilipkumar ; Kell, Loren ; Stephens, Jonathan ; Turbin, Isobel G. ; Aldred, Micheala A. ; Penkett, Christopher J. ; Ouwehand, Willem H. ; Jovine, Luca ; Turro, ErnestBlood, 2020-10, Vol.136 (17), p.1907-1918 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
|
5 |
Material Type: Artigo
|
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopeniaSivapalaratnam, Suthesh ; Westbury, Sarah K. ; Stephens, Jonathan C. ; Greene, Daniel ; Downes, Kate ; Kelly, Anne M. ; Lentaigne, Claire ; Astle, William J. ; Huizinga, Eric G. ; Nurden, Paquita ; Papadia, Sofia ; Peerlinck, Kathelijne ; Penkett, Christopher J. ; Perry, David J. ; Roughley, Catherine ; Simeoni, Ilenia ; Stirrups, Kathleen ; Hart, Daniel P. ; Tait, R.Campbell ; Mumford, Andrew D. ; Laffan, Michael A. ; Freson, Kathleen ; Ouwehand, Willem H. ; Kunishima, Shinji ; Turro, ErnestBlood, 2017-01, Vol.129 (4), p.520-524 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
|
6 |
Material Type: Artigo
|
A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologiesTurro, Ernest ; Greene, Daniel ; Wijgaerts, Anouck ; Thys, Chantal ; Lentaigne, Claire ; Bariana, Tadbir K ; Westbury, Sarah K ; Kelly, Anne M ; Selleslag, Dominik ; Stephens, Jonathan C ; Papadia, Sofia ; Simeoni, Ilenia ; Penkett, Christopher J ; Ashford, Sofie ; Attwood, Antony ; Austin, Steve ; Bakchoul, Tamam ; Collins, Peter ; Deevi, Sri V V ; Favier, Rémi ; Kostadima, Myrto ; Lambert, Michele P ; Mathias, Mary ; Millar, Carolyn M ; Peerlinck, Kathelijne ; Perry, David J ; Schulman, Sol ; Whitehorn, Deborah ; Wittevrongel, Christine ; De Maeyer, Marc ; Rendon, Augusto ; Gomez, Keith ; Erber, Wendy N ; Mumford, Andrew D ; Nurden, Paquita ; Stirrups, Kathleen ; Bradley, John R ; Raymond, F Lucy ; Laffan, Michael A ; Van Geet, Chris ; Richardson, Sylvia ; Freson, Kathleen ; Ouwehand, Willem HScience translational medicine, 2016-03, Vol.8 (328), p.328ra30-328ra30 [Periódico revisado por pares]United StatesTexto completo disponível |
|
7 |
Material Type: Artigo
|
ADA2 deficiency complicated by EBV-driven lymphoproliferative diseaseStaples, Emily ; Simeoni, Ilenia ; Stephens, Jonathan C. ; Allen, Hana Lango ; Wright, Penny ; Davies, E. Graham ; Javid, Babak ; Gkrania-Klotsas, Effrossyni ; Gattens, Michael ; Firth, Helen ; Shamardina, Olga ; Deevi, Sri V.V. ; Prapa, Matina ; Uttenthal, Ben ; Kumararatne, Dinakantha ; Thaventhiran, James E.D.Clinical immunology (Orlando, Fla.), 2020-06, Vol.215, p.108443, Article 108443 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
|
8 |
Material Type: Artigo
|
Next‐generation sequencing for the diagnosis of MYH9‐RD: Predicting pathogenic variantsBury, Loredana ; Megy, Karyn ; Stephens, Jonathan C. ; Grassi, Luigi ; Greene, Daniel ; Gleadall, Nick ; Althaus, Karina ; Allsup, David ; Bariana, Tadbir K. ; Bonduel, Mariana ; Butta, Nora V. ; Collins, Peter ; Curry, Nicola ; Deevi, Sri V. V. ; Downes, Kate ; Duarte, Daniel ; Elliott, Kim ; Falcinelli, Emanuela ; Furie, Bruce ; Keeling, David ; Lambert, Michele P. ; Linger, Rachel ; Mangles, Sarah ; Mapeta, Rutendo ; Millar, Carolyn M. ; Penkett, Christopher ; Perry, David J. ; Stirrups, Kathleen E. ; Turro, Ernest ; Westbury, Sarah K. ; Wu, John ; BioResource, NIHR ; Gomez, Keith ; Freson, Kathleen ; Ouwehand, Willem H. ; Gresele, Paolo ; Simeoni, IleniaHuman mutation, 2020-01, Vol.41 (1), p.277-290 [Periódico revisado por pares]United States: Hindawi LimitedTexto completo disponível |
|
9 |
Material Type: Artigo
|
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing lossStritt, Simon ; Nurden, Paquita ; Turro, Ernest ; Greene, Daniel ; Jansen, Sjoert B. ; Westbury, Sarah K. ; Petersen, Romina ; Astle, William J. ; Marlin, Sandrine ; Bariana, Tadbir K. ; Kostadima, Myrto ; Lentaigne, Claire ; Maiwald, Stephanie ; Papadia, Sofia ; Kelly, Anne M. ; Stephens, Jonathan C. ; Penkett, Christopher J. ; Ashford, Sofie ; Tuna, Salih ; Austin, Steve ; Bakchoul, Tamam ; Collins, Peter ; Favier, Rémi ; Lambert, Michele P. ; Mathias, Mary ; Millar, Carolyn M. ; Mapeta, Rutendo ; Perry, David J. ; Schulman, Sol ; Simeoni, Ilenia ; Thys, Chantal ; Gomez, Keith ; Erber, Wendy N. ; Stirrups, Kathleen ; Rendon, Augusto ; Bradley, John R. ; van Geet, Chris ; Raymond, F.Lucy ; Laffan, Michael A. ; Nurden, Alan T. ; Nieswandt, Bernhard ; Richardson, Sylvia ; Freson, Kathleen ; Ouwehand, Willem H. ; Mumford, Andrew D.Blood, 2016-06, Vol.127 (23), p.2903-2914 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
|
10 |
Material Type: Artigo
|
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disordersSimeoni, Ilenia ; Stephens, Jonathan C. ; Hu, Fengyuan ; Deevi, Sri V.V. ; Megy, Karyn ; Bariana, Tadbir K. ; Lentaigne, Claire ; Schulman, Sol ; Sivapalaratnam, Suthesh ; Vries, Minka J.A. ; Westbury, Sarah K. ; Greene, Daniel ; Papadia, Sofia ; Alessi, Marie-Christine ; Attwood, Antony P. ; Ballmaier, Matthias ; Baynam, Gareth ; Bermejo, Emilse ; Bertoli, Marta ; Bray, Paul F. ; Bury, Loredana ; Cattaneo, Marco ; Collins, Peter ; Daugherty, Louise C. ; Favier, Rémi ; French, Deborah L. ; Furie, Bruce ; Gattens, Michael ; Germeshausen, Manuela ; Ghevaert, Cedric ; Goodeve, Anne C. ; Guerrero, Jose A. ; Hampshire, Daniel J. ; Hart, Daniel P. ; Heemskerk, Johan W.M. ; Henskens, Yvonne M.C. ; Hill, Marian ; Hogg, Nancy ; Jolley, Jennifer D. ; Kahr, Walter H. ; Kelly, Anne M. ; Kerr, Ron ; Kostadima, Myrto ; Kunishima, Shinji ; Lambert, Michele P. ; Liesner, Ri ; López, José A. ; Mapeta, Rutendo P. ; Mathias, Mary ; Millar, Carolyn M. ; Nathwani, Amit ; Neerman-Arbez, Marguerite ; Nurden, Alan T. ; Nurden, Paquita ; Othman, Maha ; Peerlinck, Kathelijne ; Perry, David J. ; Poudel, Pawan ; Reitsma, Pieter ; Rondina, Matthew T. ; Smethurst, Peter A. ; Stevenson, William ; Szkotak, Artur ; Tuna, Salih ; van Geet, Christel ; Whitehorn, Deborah ; Wilcox, David A. ; Zhang, Bin ; Revel-Vilk, Shoshana ; Gresele, Paolo ; Bellissimo, Daniel B. ; Penkett, Christopher J. ; Laffan, Michael A. ; Mumford, Andrew D. ; Rendon, Augusto ; Gomez, Keith ; Freson, Kathleen ; Ouwehand, Willem H. ; Turro, ErnestBlood, 2016-06, Vol.127 (23), p.2791-2803 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |