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Orphanet Journal of Rare Diseases, ISSN 1750-1172, 05/2017, Volume 12, Issue 1, pp. 1 - 7
Journal Article
by Tuijnenburg, Paul and Lango Allen, Hana and Burns, Siobhan O and Burns, Siobhan and Greene, Daniel and Jansen, Machiel H and Staples, Emily and Stephens, Jonathan and Carss, Keren J and Carss, Keren and Biasci, Daniele and Baxendale, Helen and Thomas, Moira and Chandra, Anita and Kiani-Alikhan, Sorena and Longhurst, Hilary and Longhurst, Hilary J and Seneviratne, Suranjith and Seneviratne, Suranjith L and Oksenhendler, Eric and Simeoni, Ilenia and de Bree, Godelieve J and Tool, Anton T.J and van Leeuwen, Ester M.M and Ebberink, Eduard H.T.M and Meijer, Alexander B and Tuna, Salih and Whitehorn, Deborah and Brown, Matthew and Turro, Ernest and Thrasher, Adrian and Thrasher, Adrian J and Smith, Kenneth G.C and Thaventhiran, James E and Thaventhiran, James and Kuijpers, Taco W and Kuijpers, Taco and Adhya, Zoe and Alachkar, Hana and Anantharachagan, Ariharan and Antrobus, Richard and Arumugakani, Gururaj and Bacchelli, Chiara and Bethune, Claire and Bibi, Shahnaz and Boardman, Barbara and Booth, Claire and Browning, Michael and Brownlie, Mary and Clifford, Hayley and Cooper, Nichola and Davies, Sophie and Dempster, John and Devlin, Lisa and Doffinger, Rainer and Drewe, Elizabeth and Edgar, David and Egner, William and El-Shanawany, Tariq and Gaspar, Bobby and Ghurye, Rohit and Gilmour, Kimberley and Goddard, Sarah and Gordins, Pavel and Grigoriadou, Sofia and Hackett, Scott and Hague, Rosie and Harper, Lorraine and Hayman, Grant and Herwadkar, Archana and Hughes, Stephen and Huissoon, Aarnoud and Jolles, Stephen and Jones, Julie and Kelleher, Peter and Klein, Nigel and Kumararatne, Dinakantha and Laffan, James and Lear, Sara and Lorenzo, Lorena and Maimaris, Jesmeen and Manson, Ania and McDermott, Elizabeth and Millar, Hazel and Mistry, Anoop and Morrisson, Valerie and Murng, Sai and Nasir, Iman and Nejentsev, Sergey and Noorani, Sadia and Ponsford, Mark and Qasim, Waseem and Quinn, Ellen and Quinti, Isabella and Richter, Alex and Samarghitean, Crina and Sargur, Ravishankar and Savic, Sinisa and Sewall, Carrock and Shackley, Fiona and ... and NIHR BioResource-Rare Dis and NIHR BioResource–Rare Diseases Consortium
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 10/2018, Volume 142, Issue 4, pp. 1285 - 1296
Journal Article
ISSN 0006-4971, 2017
The von Willebrand receptor complex, which is composed of the glycoproteins Ibα, Ibβ, GPV, and GPIX, plays an essential role in the earliest steps in... 
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 04/2015, Volume 112, Issue 15, pp. E1898 - E1907
Next-generation sequencing is transforming our understanding of human genetic variation but assessing the functional impact of novel variants presents... 
INTEGRIN ALPHA-IIB-BETA-3 | BLEEDING DISORDERS | ALPHA-IIB | LIGAND-BINDING | single-nucleotide variants | next-generation sequencing | MULTIDISCIPLINARY SCIENCES | Glanzmann | POPULATION-GROWTH | GENETIC-VARIANTS | molecular modeling | ALPHA(IIB)BETA INTEGRIN | BETA-3 INTEGRINS | integrin | PROPLATELET FORMATION | SALT BRIDGE
Journal Article
by Farmery, James H. R and Smith, Mike L and Huissoon, Aarnoud and Furnell, Abigail and Mead, Adam and Levine, Adam P and Manzur, Adnan and Thrasher, Adrian and Greenhalgh, Alan and Parker, Alasdair and Sanchis-Juan, Alba and Richter, Alex and Gardham, Alice and Lawrie, Allan and Sohal, Aman and Creaser-Myers, Amanda and Frary, Amy and Greinacher, Andreas and Themistocleous, Andreas and Peacock, Andrew J and Marshall, Andrew and Mumford, Andrew and Rice, Andrew and Webster, Andrew and Brady, Angie and Koziell, Ania and Manson, Ania and Chandra, Anita and Hensiek, Anke and Veld, Anna Huis In'T and Maw, Anna and Kelly, Anne M and Moore, Anthony and Vonk Noordegraaf, Anton and Attwood, Antony and Herwadkar, Archana and Ghofrani, Ardi and Houweling, Arjan C and Girerd, Barbara and Furie, Bruce and Treacy, Carmen M and Millar, Carolyn M and Sewell, Carrock and Roughley, Catherine and Titterton, Catherine and Williamson, Catherine and Hadinnapola, Charaka and Deshpande, Charu and Toh, Cheng-Hock and Bacchelli, Chiara and Patch, Chris and Geet, Chris Van and Babbs, Christian and Bryson, Christine and Penkett, Christopher J and Rhodes, Christopher J and Watt, Christopher and Bethune, Claire and Booth, Claire and Lentaigne, Claire and McJannet, Coleen and Church, Colin and French, Courtney and Samarghitean, Crina and Halmagyi, Csaba and Gale, Daniel and Greene, Daniel and Hart, Daniel and Allsup, David and Bennett, David and Edgar, David and Kiely, David G and Gosal, David and Perry, David J and Keeling, David and Montani, David and Shipley, Debbie and Whitehorn, Deborah and Fletcher, Debra and Krishnakumar, Deepa and Grozeva, Detelina and Kumararatne, Dinakantha and Thompson, Dorothy and Josifova, Dragana and Maher, Eamonn and Wong, Edwin K. S and Murphy, Elaine and Dewhurst, Eleanor and Louka, Eleni and Rosser, Elisabeth and Chalmers, Elizabeth and Colby, Elizabeth and Drewe, Elizabeth and McDermott, Elizabeth and Thomas, Ellen and Staples, Emily and Clement, Emma and Matthews, Emma and Wakeling, Emma and Oksenhendler, Eric and ... and NIHR BioResource-Rare Dis and NIHR BioResource - Rare Diseases
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 1300 - 17
Telomere length is a risk factor in disease and the dynamics of telomere length are crucial to our understanding of cell replication and vitality. The... 
MULTIDISCIPLINARY SCIENCES | DISEASE | Telomeres | Ploidy | Computer applications | Data processing | Genomes | Chromosomes | Telomerase | Genotypes | Cancer
Journal Article
Proceedings of the National Academy of Sciences of the United States, ISSN 0027-8424, 04/2015, Volume 112, Issue 15, p. E1898
Glanzmann | integrin | single-nucleotide variants | next-generation sequencing | molecular modeling 
Genetic variation | Blood clotting disorders | Disease susceptibility | Genetic aspects | Nucleotide sequencing | Identification and classification | Methods | Risk factors | DNA sequencing
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 04/2015, Volume 112, Issue 15, p. E1898
  Next-generation sequencing is transforming our understanding of human genetic variation but assessing the functional impact of novel variants presents... 
Biological variation | Genes | Amino acids | Genomes | Mutation
Journal Article
by Simeoni, Ilenia Alessandra and Stephens, Jonathan C and Hu, Fengyuan and Deevi, Sri VV and Megy, Karyn and Bariana, Tadbir K and Lentaigne, Claire and Schulman, Sol and Sivapalaratnam, Suthesh and Vries, Minka JA and Westbury, Sarah K and Greene, Daniel and Papadia, Sofia and Alessi, Marie-Christine and Attwood, Antony P and Ballmaier, Matthias and Baynam, Gareth and Bermejo, Emilse and Bertoli, Marta and Bray, Paul F and Bury, Loredana and Cattaneo, Marco and Collins, Peter and Daugherty, Louise C and Favier, Rémi and French, Deborah L and Furie, Bruce and Gattens, Michael and Germeshausen, Manuela and Ghevaert, Cedric and Goodeve, Anne C and Guerrero, Jose A and Hampshire, Daniel J and Hart, Daniel P and Heemskerk, Johan WM and Henskens, Yvonne MC and Hill, Marian and Hogg, Nancy and Jolley, Jennifer D and Kahr, Walter H and Kelly, Anne M and Kerr, Ron and Kostadima, Myrto and Kunishima, Shinji and Lambert, Michele P and Liesner, Ri and López, José A and Mapeta, Rutendo P and Mathias, Mary and Millar, Carolyn M and Nathwani, Amit and Neerman-Arbez, Marguerite and Nurden, Alan T and Nurden, Paquita and Othman, Maha and Peerlinck, Kathelijne and Perry, David James and Poudel, Pawan and Reitsma, Pieter and Rondina, Matthew T and Smethurst, Peter A and Stevenson, William and Szkotak, Artur and Tuna, Salih and van, Geet Christel and Whitehorn, Deborah and Wilcox, David A and Zhang, Bin and RevelVilk, Shoshana and Gresele, Paolo and Bellissimo, Daniel B and Penkett, Christopher J and Laffan, Michael A and Mumford, Andrew D and Rendon, Cesar Augusto and Gomez, Keith and Freson, Kathleen and Ouwehand, Willem Hendrik and Turro, Ernest
ISSN 0006-4971, 2016
Inherited bleeding, thrombotic, and platelet disorders (BPDs) are diseases that affect ∼300 individuals per million births. With the exception of hemophilia... 
Journal Article
Proceedings of the National Academy of Sciences, USA, ISSN 0027-8424, 04/2015, Volume 112, Issue 15, pp. E1898 - E1898
Next-generation sequencing is transforming our understanding of human genetic variation but assessing the functional impact of novel variants presents... 
Journal Article
by Simeoni, Ilenia and Stephens, Jonathan C and Hu, Fengyuan and Deevi, Sri V. V and Megy, Karyn and Bariana, Tadbir K and Lentaigne, Claire and Schulman, Sol and Sivapalaratnam, Suthesh and Vries, Minka J. A and Westbury, Sarah K and Greene, Daniel and Papadia, Sofia and Alessi, Marie-Christine and Attwood, Antony P and Ballmaier, Matthias and Baynam, Gareth and Bermejo, Emilse and Bertoli, Marta and Bray, Paul F and Bury, Loredana and Cattaneo, Marco and Collins, Peter and Daugherty, Louise C and Favier, Remi and French, Deborah L and Furie, Bruce and Gattens, Michael and Germeshausen, Manuela and Ghevaert, Ceic and Goodeve, Anne C and Guerrero, Jose A and Hampshire, Daniel J and Hart, Daniel P and Heemskerk, Johan W. M and Henskens, Yvonne M. C and Hill, Marian and Hogg, Nancy and Jolley, Jennifer D and Kahr, Walter H and Kelly, Anne M and Kerr, Ron and Kostadima, Myrto and Kunishima, Shinji and Lambert, Michele P and Liesner, Ri and Lopez, Jose A and Mapeta, Rutendo P and Mathias, Mary and Millar, Carolyn M and Nathwani, Amit and Neerman-Arbez, Marguerite and Nurden, Alan T and Nurden, Paquita and Othman, Maha and Peerlinck, Kathelijne and Perry, David J and Poudel, Pawan and Reitsma, Pieter and Rondina, Matthew T and Smethurst, Peter A and Stevenson, William and Szkotak, Artur and Tuna, Salih and van Geet, Christel and Whitehorn, Deborah and Wilcox, David A and Zhang, Bin and Revel-Vilk, Shoshana and Gresele, Paolo and Bellissimo, Daniel B and Penkett, Christopher J and Laffan, Michael A and Mumford, Anew D and Rendon, Augusto and Gomez, Keith and Freson, Kathleen and Ouwehand, Willem H and Turro, Ernest
Blood, ISSN 0006-4971, 06/2016, Volume 127, Issue 23, pp. 2791 - 2803
Journal Article
Blood, ISSN 0006-4971, 06/2016, Volume 127, Issue 23, pp. 2903 - 2914
Journal Article