Beta thalassaemia intermedia due to co‐inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis
Clark, Barnaby, Shooter, Claire, Smith, Frances, Brawand, David, Steedman, Laura, Oakley, Matthew, Rushton, Peter, Rooks, Helen, Wang, Xunde, Drousiotou, Anthi, Kyrri, Andriani, Hadjigavriel, Michael, Will, Andrew, Fisher, Chris, Higgs, Douglas R., Phylipsen, Marion, Harteveld, Cornelis, Kleanthous, Marina, Thein, Swee Lay
Published in British journal of haematology (01.01.2018)
Published in British journal of haematology (01.01.2018)
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Journal Article
A Review of 1000 Molecular Investigations of Rare Inherited Anaemia and Related Conditions with the Red Cell Gene Panel
Mayhew, Rachel, Smith, Frances, Steedman, Laura, Parkin, Nicholas, Moldes Beiro, Eva, Rushton, Peter, Bybee, Alison, Brawand, David, Marsh, Judith, Kulasekararaj, Austin G., Ghandi, Shreyans, Mansour, Sahar, Mufti, Ghulam, Pagliuca, Antonio, Chakravorty, Subarna, Rees, David C, Clark, Barnaby
Published in Blood (29.11.2018)
Published in Blood (29.11.2018)
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Journal Article
A Comprehensive Next Generation Sequencing Gene Panel Focused on Unexplained Anemia
Smith, Frances, Brawand, David, Steedman, Laura, Oakley, Matthew, Wall, Christopher, Rushton, Peter, Allchurch, Margaret, Sibson, Keith, Hemmaway, Claire Jane, Thein, Swee Lay, Rees, David C., Clark, Barnaby E.
Published in Blood (03.12.2015)
Published in Blood (03.12.2015)
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Journal Article
Characterisation of Three Unique Head-to-Tail Alpha Globin Cluster Duplications Contributing to Beta Thalassemia Intermedia in 3 Families
Clark, Barnaby E., Shooter, Claire C., Smith, Frances, Brawand, David, Steedman, Laura, Oakley, Matthew, Rushton, Peter, Rooks, Helen, Wang, Xunde, Drousiotou, Anthi, Kyrri, Andriani, Felekis, Xenia, Petrou, Miranda, Will, Andrew M, Fisher, Chris, Higgs, Douglas R., Harteveld, Cornelius, Phylipsen, Marion, Kleanthous, Marina, Thein, Swee Lay
Published in Blood (03.12.2015)
Published in Blood (03.12.2015)
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Journal Article