ATR-16 syndrome: mechanisms linking monosomy to phenotype
Babbs, Christian, Brown, Jill, Horsley, Sharon W, Slater, Joanne, Maifoshie, Evie, Kumar, Shiwangini, Ooijevaar, Paul, Kriek, Marjolein, Dixon-McIver, Amanda, Harteveld, Cornelis L, Traeger-Synodinos, Jan, Wilkie, Andrew O M, Higgs, Douglas R, Buckle, Veronica J
Published in Journal of medical genetics (01.06.2020)
Published in Journal of medical genetics (01.06.2020)
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Journal Article
Specific JAK2 mutation (JAK2R683) and multiple gene deletions in Down syndrome acute lymphoblastic leukemia
Kearney, Lyndal, Gonzalez De Castro, David, Yeung, Jenny, Procter, Julia, Horsley, Sharon W., Eguchi-Ishimae, Minenori, Bateman, Caroline M., Anderson, Kristina, Chaplin, Tracy, Young, Bryan D., Harrison, Christine J., Kempski, Helena, Wai E. So, Chi, Ford, Anthony M., Greaves, Mel
Published in Blood (15.01.2009)
Published in Blood (15.01.2009)
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Journal Article
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease
Rossetti, Sandro, Kubly, Vickie J., Consugar, Mark B., Hopp, Katharina, Roy, Sushmita, Horsley, Sharon W., Chauveau, Dominique, Rees, Lesley, Barratt, T. Martin, van't Hoff, William G., Niaudet, W. Patrick, Torres, Vicente E., Harris, Peter C.
Published in Kidney international (01.04.2009)
Published in Kidney international (01.04.2009)
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Journal Article
Subtle chromosomal rearrangements in children with unexplained mental retardation
Knight, Samantha JL, Regan, Regina, Nicod, Alison, Horsley, Sharon W, Kearney, Lyndal, Homfray, Tessa, Winter, Robin M, Bolton, Patrick, Flint, Jonathan
Published in The Lancet (British edition) (13.11.1999)
Published in The Lancet (British edition) (13.11.1999)
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Journal Article
Genetic lesions in a preleukemic aplasia phase in a child with acute lymphoblastic leukemia
Horsley, Sharon W., Colman, Susan, McKinley, Mark, Bateman, Caroline M., Jenney, Meriel, Chaplin, Tracy, Young, Bryan D., Greaves, Mel, Kearney, Lyndal
Published in Genes chromosomes & cancer (01.04.2008)
Published in Genes chromosomes & cancer (01.04.2008)
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Journal Article
Covert preleukemia driven by MLL gene fusion
Zuna, Jan, Burjanivova, Tatiana, Mejstrikova, Ester, Zemanova, Zuzana, Muzikova, Katerina, Meyer, Claus, Horsley, Sharon W., Kearney, Lyndal, Colman, Susan, Ptoszkova, Hana, Marschalek, Rolf, Hrusak, Ondrej, Stary, Jan, Greaves, Mel, Trka, Jan
Published in Genes chromosomes & cancer (01.01.2009)
Published in Genes chromosomes & cancer (01.01.2009)
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Journal Article
Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16
DANIELS, Rachael J, PEDEN, John F, HIGGS, Douglas R, LLOYD, Christine, HORSLEY, Sharon W, CLARK, Kevin, TUFARELLI, Cristina, KEARNEY, Lyndal, BUCKLE, Veronica J, DOGGETT, Norman A, FLINT, Jonathan
Published in Human molecular genetics (15.02.2001)
Published in Human molecular genetics (15.02.2001)
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Journal Article
Array CGH of fusion gene-positive leukemia-derived cell lines reveals cryptic regions of genomic gain and loss
Horsley, Sharon W., Mackay, Alan, Iravani, Marjan, Fenwick, Kerry, Valgeirsson, Haukur, Dexter, Tim, Ashworth, Alan, Kearney, Lyndal
Published in Genes chromosomes & cancer (01.06.2006)
Published in Genes chromosomes & cancer (01.06.2006)
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Journal Article
Comparative expressed sequence hybridization studies of high-hyperdiploid childhood acute lymphoblastic leukemia
Gruszka-Westwood, Alicja M., Horsley, Sharon W., Martinez-Ramirez, Angel, Harrison, Christine J., Kempski, Helena, Moorman, Anthony V., Ross, Fiona M., Griffiths, Michael, Greaves, Mel F., Kearney, Lyndal
Published in Genes chromosomes & cancer (01.11.2004)
Published in Genes chromosomes & cancer (01.11.2004)
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Journal Article
Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects
Horsley, S W, Daniels, R J, Anguita, E, Raynham, H A, Peden, J F, Villegas, A, Vickers, M A, Green, S, Waye, J S, Chui, D H, Ayyub, H, MacCarthy, A B, Buckle, V J, Gibbons, R J, Kearney, L, Higgs, D R
Published in European journal of human genetics : EJHG (01.03.2001)
Published in European journal of human genetics : EJHG (01.03.2001)
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Journal Article
Identification of a subtle t(16;19)(p13.3;p13.3) in an infant with multiple congenital abnormalities using a 12-colour multiplex FISH telomere assay, M-TEL
Brown, J, Horsley, S W, Jung, C, Saracoglu, K, Janssen, B, Brough, M, Daschner, M, Beedgen, B, Kerkhoffs, G, Eils, R, Harris, P C, Jauch, A, Kearney, L
Published in European journal of human genetics : EJHG (01.12.2000)
Published in European journal of human genetics : EJHG (01.12.2000)
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Journal Article
Rapid mapping of markers applying vectorette technology to YAC fragmentation allows easy assembly of a high-density STS bacterial clone contig spanning the markers D6S1260-D6S1918
Shearman, J D, Pointon, J J, Merryweather-Clarke, A T, Stone, C, Horsley, S W, Kearney, L, Rosenberg, W M, Robson, K J
Published in Mammalian genome (01.03.1998)
Published in Mammalian genome (01.03.1998)
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Journal Article
Clonal Origins of 'late' Relapses in ETV6-RUNX1 Acute Lymphoblastic Leukemia
van Delft, Frederik W, Horsley, Sharon W, Anderson, Kristina, Bateman, Caroline M, Colman, Susan, Zuna, Jan, Eckert, Cornelia, Kempski, Helena, Saha, Vaskar, Kearney, Lyndal, Ford, Anthony, Greaves, Mel
Published in Blood (20.11.2009)
Published in Blood (20.11.2009)
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Journal Article
Sequence of Genetic Events in ETV6-RUNX1 Positive B Precursor ALL: Insights from Identical Twins with Concordant Leukaemia
Bateman, Caroline M, Horsley, Sharon W., Chaplin, Tracy, Young, Bryan D, Ford, Anthony M, Kearney, Lyndal, Greaves, Mel
Published in Blood (16.11.2008)
Published in Blood (16.11.2008)
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Journal Article
A Comprehensive Screen for TWIST Mutations in Patients with Craniosynostosis Identifies a New Microdeletion Syndrome of Chromosome Band 7p21.1
Johnson, David, Horsley, Sharon W., Moloney, Dominique M., Oldridge, Michael, Twigg, Stephen R.F., Walsh, Sinead, Barrow, Margaret, Njølstad, Pål R., Kunz, Jürgen, Ashworth, Geraldine J., Wall, Steven A., Kearney, Lyndal, Wilkie, Andrew O.M.
Published in American journal of human genetics (01.11.1998)
Published in American journal of human genetics (01.11.1998)
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Journal Article
Acquired Genetic Abnormalities in Acute Lymphoblastic Leukaemia in Patients with Down Syndrome
Kearney, Lyndal, Horsley, Sharon W., Bateman, Caroline M., De Castro, David Gonzalez, Young, Bryan D., Chaplin, Tracy, Eguchi, Minenori, Greaves, Mel
Published in Blood (16.11.2007)
Published in Blood (16.11.2007)
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Journal Article
Development and Clinical Application of an Innovative Fluorescence in situ Hybridization Technique Which Detects Submicroscopic Rearrangements Involving Telomeres
Knight, Samantha J.L., Horsley, Sharon W., Regan, Regina, Lawrie, N. Martin, Maher, E.J., Cardy, Donald L.N., Flint, Jonathan, Kearney, Lyndal
Published in European journal of human genetics : EJHG (01.01.1997)
Published in European journal of human genetics : EJHG (01.01.1997)
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Journal Article
Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements
Horsley, S W, Knight, S J, Nixon, J, Huson, S, Fitchett, M, Boone, R A, Hilton-Jones, D, Flint, J, Kearney, L
Published in Journal of medical genetics (01.09.1998)
Published in Journal of medical genetics (01.09.1998)
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Journal Article
ATR16 Syndrome: Mechanisms Linking Monosomy to Phenotype
Babbs, Christian, Brown, Jill, Horsley, Sharon W, Slater, Joanne, Maifoshie, Evie, Kumar, Shiwangini, Ooijevaar, Paul, Kriek, Marjolein, Dixon-Mciver, Amanda, Harteveld, Cornelis L, Traeger-Synodinos, Joanne, Higgs, Doug, Buckle, Veronica J
Published in bioRxiv (07.10.2019)
Published in bioRxiv (07.10.2019)
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