Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia von Ancliff, Phil J., Blundell, Michael P., Cory, Giles O., Calle, Yolanda, Worth, Austen, Kempski, Helena, Burns, Siobhan, Jones, Gareth E., Sinclair, Jo, Kinnon, Christine, Hann, Ian M., Gale, Rosemary E., Linch, David C., Thrasher, Adrian J.

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Unregulated actin polymerization by WASp causes defects of mitosis and cytokinesis in X-linked neutropenia von Moulding, Dale A, Blundell, Michael P, Spiller, David G, White, Michael R H, Cory, Giles O, Calle, Yolanda, Kempski, Helena, Sinclair, Jo, Ancliff, Phil J, Kinnon, Christine, Jones, Gareth E, Thrasher, Adrian J

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Notch-1 Mutations Are Secondary Events in Some Patients with T-Cell Acute Lymphoblastic Leukemia von MANSOUR, Marc R, DUKE, Veronique, FORONI, Letizia, PATEL, Bella, ALLEN, Christopher G, ANCLIFF, Phil J, GALE, Rosemary E, LINCH, David C

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Recent advances in the understanding of genetic defects of neutrophil number and function von Bouma, Gerben, Ancliff, Phil J., Thrasher, Adrian J., Burns, Siobhan O.

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Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia von Ancliff, Phil J., Gale, Rosemary E., Watts, Michael J., Liesner, Ri, Hann, Ian M., Strobel, Stephan, Linch, David C.

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Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia von Smith, Bradley N., Evans, Catherine, Ali, Akbar, Ancliff, Phil J., Hayee, Bu'Hussain, Segal, Anthony W., Hall, Georgina, Kaya, Zuhre, Shakoori, Abdul Rauf, Linch, David C., Gale, Rosemary E.

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Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds von Smith, Bradley N., Ancliff, Phil J., Pizzey, Arnold, Khwaja, Asim, Linch, David C., Gale, Rosemary E.

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Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of... von Ancliff, Phil J., Gale, Rosemary E., Liesner, Ri, Hann, Ian M., Linch, David C.

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Long‐term follow‐up of granulocyte colony‐stimulating factor receptor mutations in patients with severe congenital neutropenia: implications for leukaemogenesis and therapy von Ancliff, Phil J., Gale, Rosemary E., Liesner, Ri, Hann, Ian, Linch, David C.

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Neutrophil Elastase Mutations in Congenital Neutropenia von Ancliff, Phil J., Gale, Rosemary E., Linch, David C.

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Phenotypic heterogeneity and evidence of a founder effect associated with G6 PC 3 mutations in patients with severe congenital neutropenia von Smith, Bradley N., Evans, Catherine, Ali, Akbar, Ancliff, Phil J., Hayee, Bu'Hussain, Segal, Anthony W., Hall, Georgina, Kaya, Zuhre, Shakoori, Abdul Rauf, Linch, David C., Gale, Rosemary E.

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The Occurrence of Mutations in PTPN11 and KRAS Is Not Dissimilar in Patients with Indolent Juvenile Myelomonocytic Leukemia (JMML) from Those with Clinically More Aggressive Diseas... von Rao, Anupama G., Ancliff, Phil J., Webb, David K., Linch, David C., Gale, Rosemary E.

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Identification of Two Novel Homozygous HAX1 Mutations in an Autosomal Recessive Jewish and Two Unrelated Sporadic British Families with Severe Congenital Neutropenia von Smith, Bradley N., Ancliff, Phil J., Linch, David C., Gale, Rosemary E.

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Unregulated actin polymerization by WASp causes defects of mitosis and cytokinesis in X-linked neutropenia von Moulding, Dale A., Blundell, Michael P., Spiller, David G., White, Michael R.H., Cory, Giles O., Calle, Yolanda, Kempski, Helena, Sinclair, Jo, Ancliff, Phil J., Kinnon, Christine, Jones, Gareth E., Thrasher, Adrian J.

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Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia von Smith, Bradley N, Evans, Catherine, Ali, Akbar, Ancliff, Phil J, Hayee, Bu'hussain, Segal, Anthony W, Hall, Georgina, Kaya, Zuhre, Shakoori, Abdul Rauf, Linch, David C, Gale, Rosemary E

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

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What is the diagnostic yield of bone marrow aspiration to exclude leukaemia prior to systemic treatment in juvenile idiopathic arthritis? von Fordham, Nicholas J., Bartram, Jack, Ghorashian, Sara, O'Connor, David, Taylor, Alice, Sibson, Keith, Rao, Anupama, Pavasovic, Vesna, Cheng, Danny, Ancliff, Phil, Vora, Ajay, Samarasinghe, Sujith

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Benefits for children with suspected cancer from routine whole-genome sequencing von Hodder, Angus, Leiter, Sarah M., Kennedy, Jonathan, Addy, Dilys, Ahmed, Munaza, Ajithkumar, Thankamma, Allinson, Kieren, Ancliff, Phil, Bailey, Shivani, Barnard, Gemma, Burke, G. A. Amos, Burns, Charlotte, Cano-Flanagan, Julian, Chalker, Jane, Coleman, Nicholas, Cheng, Danny, Clinch, Yasmin, Dryden, Caryl, Ghorashian, Sara, Griffin, Blanche, Horan, Gail, Hubank, Michael, May, Phillippa, McDerra, Joanna, Nagrecha, Rajvi, Nicholson, James, O’Connor, David, Pavasovic, Vesna, Quaegebeur, Annelies, Rao, Anupama, Roberts, Thomas, Samarasinghe, Sujith, Stasevich, Iryna, Tadross, John A., Trayers, Claire, Trotman, Jamie, Vora, Ajay, Watkins, James, Chitty, Lyn S., Bowdin, Sarah, Armstrong, Ruth, Murray, Matthew J., Hook, Catherine E., Tarpey, Patrick, Vedi, Aditi, Bartram, Jack, Behjati, Sam

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Chemotherapy induces canalization of cell state in childhood B-cell precursor acute lymphoblastic leukemia von Turati, Virginia A., Guerra-Assuncao, Jose Afonso, Potter, Nicola E., Gupta, Rajeev, Ecker, Simone, Daneviciute, Agne, Tarabichi, Maxime, Webster, Amy P., Ding, Chuling, May, Gillian, James, Chela, Brown, John, Conde, Lucia, Russell, Lisa J., Ancliff, Phil, Inglott, Sarah, Cazzaniga, Giovanni, Biondi, Andrea, Hall, Georgina W., Lynch, Mark, Hubank, Mike, Macaulay, Iain, Beck, Stephan, Van Loo, Peter, Jacobsen, Sten E., Greaves, Mel, Herrero, Javier, Enver, Tariq

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Acute Lymphoblastic Leukaemia Has a Poor Outcome in Children with Down Syndrome Due to Infective Death in Remission (Results of UK MRC ALL 97 Trial) von de la Fuente, Josu, Richards, Sue, Webb, David K., Hann, Ian M., Mitchell, Christopher D., Vora, Ajay J., Kinsey, Sally E., Eden, Osborn B., Ancliff, Phil

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