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by Howe, Kerstin and Clark, Matthew D and Torroja, Carlos F and Torrance, James and Berthelot, Camille and Muffato, Matthieu and Collins, John E and Humphray, Sean and McLaren, Karen and Matthews, Lucy and McLaren, Stuart and Sealy, Ian and Caccamo, Mario and Churcher, Carol and Scott, Carol and Barrett, Jeffrey C and Koch, Romke and Rauch, Gerd-Jörg and White, Simon and Chow, William and Kilian, Britt and Quintais, Leonor T and Guerra-Assunção, José A and Zhou, Yi and Gu, Yong and Yen, Jennifer and Vogel, Jan-Hinnerk and Eyre, Tina and Redmond, Seth and Banerjee, Ruby and Chi, Jianxiang and Fu, Beiyuan and Langley, Elizabeth and Maguire, Sean F and Laird, Gavin K and Lloyd, David and Kenyon, Emma and Donaldson, Sarah and Sehra, Harminder and Almeida-King, Jeff and Loveland, Jane and Trevanion, Stephen and Jones, Matt and Quail, Mike and Willey, Dave and Hunt, Adrienne and Burton, John and Sims, Sarah and McLay, Kirsten and Plumb, Bob and Davis, Joy and Clee, Chris and Oliver, Karen and Clark, Richard and Riddle, Clare and Elliott, David and Threadgold, Glen and Harden, Glenn and Ware, Darren and Begum, Sharmin and Mortimore, Beverley and Kerry, Giselle and Heath, Paul and Phillimore, Benjamin and Tracey, Alan and Corby, Nicole and Dunn, Matthew and Johnson, Christopher and Wood, Jonathan and Clark, Susan and Pelan, Sarah and Griffiths, Guy and Smith, Michelle and Glithero, Rebecca and Howden, Philip and Barker, Nicholas and Lloyd, Christine and Stevens, Christopher and Harley, Joanna and Holt, Karen and Panagiotidis, Georgios and Lovell, Jamieson and Beasley, Helen and Henderson, Carl and Gordon, Daria and Auger, Katherine and Wright, Deborah and Collins, Joanna and Raisen, Claire and Dyer, Lauren and Leung, Kenric and Robertson, Lauren and Ambridge, Kirsty and Leongamornlert, Daniel and McGuire, Sarah and Gilderthorp, Ruth and Griffiths, Coline and Manthravadi, Deepa and Nichol, Sarah and Barker, Gary and ...
Nature (London), ISSN 1476-4687, 04/2013, Volume 496, Issue 7446, pp. 498 - 503
Journal Article
Nature (London), ISSN 0028-0836, 2020, Volume 583, Issue 7814, pp. 96 - 102
Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders... 
General | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Disease | Transcription | Genes | Blood cells | Genomics | Erythrocytes | Genomes | Genetic screening | Gene sequencing | Diseases | GATA-1 protein | Genotype & phenotype | Red blood cells | Etiology | Biobanks | Mutation | Diagnosis | Index Medicus | Allmän medicin | Family Medicine
Journal Article
by Turro, Ernest and Astle, William J and Megy, Karyn and Gräf, Stefan and Greene, Daniel and Shamardina, Olga and Allen, Hana Lango and Sanchis-Juan, Alba and Frontini, Mattia and Thys, Chantal and Stephens, Jonathan and Mapeta, Rutendo and Burren, Oliver S and Downes, Kate and Haimel, Matthias and Tuna, Salih and Deevi, Sri V.V and Aitman, Timothy J and Bennett, David L and Calleja, Paul and Carss, Keren and Caulfield, Mark J and Chinnery, Patrick F and Dixon, Peter H and Gale, Daniel P and James, Roger and Koziell, Ania and Laffan, Michael A and Levine, Adam P and Maher, Eamonn R and Markus, Hugh S and Morales, Joannella and Morrell, Nicholas W and Mumford, Anew D and Ormonoyd, Elizabeth and Rankin, Stuart and Rendon, Augusto and Richardson, Sylvia and Roberts, Irene and Roy, Noemi B.A and Saleem, Moin A and Smith, Kenneth G.C and Stark, Hannah and Tan, Rhea Y.Y and Themistocleous, Aneas C and Thrasher, Aian J and Watkins, Hugh and Webster, Anew R and Wilkins, Martin R and Williamson, Catherine and Whitworth, James and Humphray, Sean and Bentley, David R and Abbs, Stephen and Abulhoul, Lara and Adlard, Julian and Ahmed, Munaza and Alachkar, Hana and Allsup, David J and Almeida-King, Jeff and Ancliff, Philip and Antrobus, Richard and Armstrong, Ruth and Arno, Gavin and Ashford, Sofie and Attwood, Anthony and Aurora, Paul and Babbs, Christian and Bacchelli, Chiara and Bakchoul, Tamam and Banka, Siddharth and Bariana, Tadbir and Barwell, Julian and Batista, Joana and Baxendale, Helen E and Beales, Phil L and Bierzynska, Agnieszka and Biss, Tina and Bitner-Glindzicz, Maria A.K and Black, Graeme C and Bleda, Marta and Blesneac, Iulia and Bockenhauer, Detlef and Bogaard, Harm and Bourne, Christian J and Boyce, Sara and Bradley, John R and Bragin, Eugene and Breen, Gerome and Brennan, Paul and Brewer, Carole and Brown, Matthew and Browning, Anew C and Browning, Michael J and Buchan, Rachel J and Buckland, Matthew S and Bueser, Teofila and Diz, Carmen Bugarin and Burn, John and Burns, Siobhan O and ...
Nature (London), ISSN 0028-0836, 07/2020, Volume 583, Issue 7814, pp. 96 - 102
Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders... 
General
Journal Article
Database : the journal of biological databases and curation, ISSN 1758-0463, 07/2011, Volume 2011, pp. bar030 - bar030
Journal Article
Journal Article
Journal Article
by Howe, Kerstin and Clark, Matthew D and Torroja, Carlos F and Torrance, James and Berthelot, Camille and Muffato, Matthieu and Collins, John E and Humphray, Sean and McLaren, Karen and Matthews, Lucy and McLaren, Stuart and Sealy, Ian and Caccamo, Mario and Churcher, Carol and Scott, Carol and Barrett, Jeffrey C and Koch, Romke and Rauch, Gerd-Joerg and White, Simon and Chow, William and Kilian, Britt and Quintais, Leonor T and Guerra-Assuncao, Jose A and Zhou, Yi and Gu, Yong and Yen, Jennifer and Vogel, Jan-Hinnerk and Eyre, Tina and Banerjee, Ruby and Chi, Jianxiang and Fu, Beiyuan and Langley, Elizabeth and Maguire, Sean F and Laird, Gavin and Lloyd, David and Kenyon, Emma and Donaldson, Sarah and Sehra, Harminder and Almeida-King, Jeff and Loveland, Jane and Trevanion, Stephen and Jones, Matt and Quail, Mike and Willey, Dave and Hunt, Adrienne and Burton, John and Sims, Sarah and McLay, Kirsten and Plumb, Bob and Davis, Joy and Clee, Chris and Oliver, Karen and Clark, Richard and Riddle, Clare and Elliott, David and Threadgold, Glen and Harden, Glenn and Ware, Darren and Begum, Sharmin and Mortimore, Beverley and Kerry, Giselle and Heath, Paul and Phillimore, Benjamin and Tracey, Alan and Corby, Nicole and Dunn, Matthew and Johnson, Christopher and Wood, Jonathan and Clark, Susan and Pelan, Sarah and Griffiths, Guy and Smith, Michelle and Glithero, Rebecca and Howden, Philip and Barker, Nicholas and Lloyd, Christine and Stevens, Christopher and Harley, Joanna and Holt, Karen and Panagiotidis, Georgios and Lovell, Jamieson and Beasley, Helen and Henderson, Carl and Gordon, Daria and Auger, Katherine and Wright, Deborah and Collins, Joanna and Raisen, Claire and Dyer, Lauren and Leung, Kenric and Robertson, Lauren and Ambridge, Kirsty and Leongamornlert, Daniel and McGuire, Sarah and Gilderthorp, Ruth and Griffiths, Coline and Manthravadi, Deepa and Nichol, Sarah and Barker, Gary and Whitehead, Siobhan and ...
Nature (London), ISSN 0028-0836, 01/2014, Volume 505, Issue 7482, pp. 248 - 248
Journal Article
by Howe, Kerstin and Clark, Matthew D and Torroja, Carlos F and Torrance, James and Berthelot, Camille and Muffato, Matthieu and Collins, John E and Humphray, Sean and McLaren, Karen and Matthews, Lucy and McLaren, Stuart and Sealy, Ian and Caccamo, Mario and Churcher, Carol and Scott, Carol and Barrett, Jeffrey C and Koch, Romke and Rauch, Gerd-Jörg and White, Simon and Chow, William and Kilian, Britt and Quintais, Leonor T and Guerra-Assunção, José A and Zhou, Yi and Gu, Yong and Yen, Jennifer and Vogel, Jan-Hinnerk and Eyre, Tina and Banerjee, Ruby and Chi, Jianxiang and Fu, Beiyuan and Langley, Elizabeth and Maguire, Sean F and Laird, Gavin and Lloyd, David and Kenyon, Emma and Donaldson, Sarah and Sehra, Harminder and Almeida-King, Jeff and Loveland, Jane and Trevanion, Stephen and Jones, Matt and Quail, Mike and Willey, Dave and Hunt, Adrienne and Burton, John and Sims, Sarah and McLay, Kirsten and Plumb, Bob and Davis, Joy and Clee, Chris and Oliver, Karen and Clark, Richard and Riddle, Clare and Elliott, David and Threadgold, Glen and Harden, Glenn and Ware, Darren and Begum, Sharmin and Mortimore, Beverley and Kerry, Giselle and Heath, Paul and Phillimore, Benjamin and Tracey, Alan and Corby, Nicole and Dunn, Matthew and Johnson, Christopher and Wood, Jonathan and Clark, Susan and Pelan, Sarah and Griffiths, Guy and Smith, Michelle and Glithero, Rebecca and Howden, Philip and Barker, Nicholas and Lloyd, Christine and Stevens, Christopher and Harley, Joanna and Holt, Karen and Panagiotidis, Georgios and Lovell, Jamieson and Beasley, Helen and Henderson, Carl and Gordon, Daria and Auger, Katherine and Wright, Deborah and Collins, Joanna and Raisen, Claire and Dyer, Lauren and Leung, Kenric and Robertson, Lauren and Ambridge, Kirsty and Leongamornlert, Daniel and McGuire, Sarah and Gilderthorp, Ruth and Griffiths, Coline and Manthravadi, Deepa and Nichol, Sarah and Barker, Gary and Whitehead, Siobhan and ...
Nature (London), ISSN 0028-0836, 2014, Volume 505, Issue 7482, p. 248
Journal Article
by Howe, Kerstin and Clark, Matthew D and Torroja, Carlos F and Torrance, James and Berthelot, Camille and Muffato, Matthieu and Collins, John E and Humphray, Sean and McLaren, Karen and Matthews, Lucy and McLaren, Stuart and Sealy, Ian and Caccamo, Mario and Churcher, Carol and Scott, Carol and Barrett, Jeffrey C and Koch, Romke and Rauch, Gerd-Jörg and White, Simon and Chow, William and Kilian, Britt and Quintais, Leonor T and Guerra-Assunção, José A and Zhou, Yi and Gu, Yong and Yen, Jennifer and Vogel, Jan-Hinnerk and Eyre, Tina and Banerjee, Ruby and Chi, Jianxiang and Fu, Beiyuan and Langley, Elizabeth and Maguire, Sean F and Laird, Gavin and Lloyd, David and Kenyon, Emma and Donaldson, Sarah and Sehra, Harminder and Almeida-King, Jeff and Loveland, Jane and Trevanion, Stephen and Jones, Matt and Quail, Mike and Willey, Dave and Hunt, Adrienne and Burton, John and Sims, Sarah and McLay, Kirsten and Plumb, Bob and Davis, Joy and Clee, Chris and Oliver, Karen and Clark, Richard and Riddle, Clare and Elliott, David and Threadgold, Glen and Harden, Glenn and Ware, Darren and Begum, Sharmin and Mortimore, Beverley and Kerry, Giselle and Heath, Paul and Phillimore, Benjamin and Tracey, Alan and Corby, Nicole and Dunn, Matthew and Johnson, Christopher and Wood, Jonathan and Clark, Susan and Pelan, Sarah and Griffiths, Guy and Smith, Michelle and Glithero, Rebecca and Howden, Philip and Barker, Nicholas and Lloyd, Christine and Stevens, Christopher and Harley, Joanna and Holt, Karen and Panagiotidis, Georgios and Lovell, Jamieson and Beasley, Helen and Henderson, Carl and Gordon, Daria and Auger, Katherine and Wright, Deborah and Collins, Joanna and Raisen, Claire and Dyer, Lauren and Leung, Kenric and Robertson, Lauren and Ambridge, Kirsty and Leongamornlert, Daniel and McGuire, Sarah and Gilderthorp, Ruth and Griffiths, Coline and Manthravadi, Deepa and Nichol, Sarah and Barker, Gary and Whitehead, Siobhan and ...
Nature (London), ISSN 0028-0836, 01/2014, Volume 505, Issue 7482, pp. 248 - 248
Journal Article
Journal Article
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