Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans
van de Leemput, Joyce, Chandran, Jayanth, Knight, Melanie A, Holtzclaw, Lynne A, Scholz, Sonja, Cookson, Mark R, Houlden, Henry, Gwinn-Hardy, Katrina, Fung, Hon-Chung, Lin, Xian, Hernandez, Dena, Simon-Sanchez, Javier, Wood, Nick W, Giunti, Paola, Rafferty, Ian, Hardy, John, Storey, Elsdon, Gardner, R J McKinlay, Forrest, Susan M, Fisher, Elizabeth M C, Russell, James T, Cai, Huaibin, Singleton, Andrew B
Published in PLoS genetics (01.06.2007)
Published in PLoS genetics (01.06.2007)
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Preparing for genomic medicine: a real world demonstration of health system change
Gaff, Clara L, M Winship, Ingrid, M Forrest, Susan, P Hansen, David, Clark, Julian, M Waring, Paul, South, Mike, H Sinclair, Andrew
Published in Npj genomic medicine (01.05.2017)
Published in Npj genomic medicine (01.05.2017)
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Friedreich ataxia: an overview
Delatycki, Martin B, Williamson, Robert, Forrest, Susan M
Published in Journal of Medical Genetics (01.01.2000)
Published in Journal of Medical Genetics (01.01.2000)
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Book Review
A duplication at chromosome 11q12.2–11q12.3 is associated with spinocerebellar ataxia type 20
Knight, Melanie A., Hernandez, Dena, Diede, Scott J., Dauwerse, Hans G., Rafferty, Ian, van de Leemput, Joyce, Forrest, Susan M., Gardner, R.J.McKinlay, Storey, Elsdon, van Ommen, Gert-Jan B., Tapscott, Stephen J., Fischbeck, Kenneth H., Singleton, Andrew B.
Published in Human molecular genetics (15.12.2008)
Published in Human molecular genetics (15.12.2008)
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Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20
Knight, Melanie A., McKinlay Gardner, R. J., Bahlo, Melanie, Matsuura, Tohru, Dixon, Judith A., Forrest, Susan M., Storey, Elsdon
Published in Brain (London, England : 1878) (01.05.2004)
Published in Brain (London, England : 1878) (01.05.2004)
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SNP selection for genes of iron metabolism in a study of genetic modifiers of hemochromatosis
Constantine, Clare C, Gurrin, Lyle C, McLaren, Christine E, Bahlo, Melanie, Anderson, Gregory J, Vulpe, Chris D, Forrest, Susan M, Allen, Katrina J, Gertig, Dorota M
Published in BMC medical genetics (20.03.2008)
Published in BMC medical genetics (20.03.2008)
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Whole genome SNP arrays using DNA derived from formalin-fixed, paraffin-embedded ovarian tumor tissue
Thompson, Ella R., Herbert, Shane C., Forrest, Susan M., Campbell, Ian G.
Published in Human mutation (01.10.2005)
Published in Human mutation (01.10.2005)
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Erratum: Preparing for genomic medicine: a real world demonstration of health system change
Gaff, Clara L, M Winship, Ingrid, M Forrest, Susan, P Hansen, David, Clark, Julian, M Waring, Paul, South, Mike, H Sinclair, Andrew
Published in Npj genomic medicine (05.10.2017)
Published in Npj genomic medicine (05.10.2017)
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Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: : exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant
Knight, Melanie A, Kennerson, Marina L, Anney, Richard J, Matsuura, Tohru, Nicholson, Garth A, Salimi-Tari, Peyman, Gardner, R.J.McKinlay, Storey, Elsdon, Forrest, Susan M
Published in Neurobiology of disease (01.07.2003)
Published in Neurobiology of disease (01.07.2003)
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A Gene for Pili Annulati Maps to the Telomeric Region of Chromosome 12q
Green, Jack, Fitzpatrick, Elizabeth, de Berker, David, Forrest, Susan M., Sinclair, Rodney D.
Published in Journal of investigative dermatology (01.12.2004)
Published in Journal of investigative dermatology (01.12.2004)
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Array comparative genomic hybridisation analysis of boys with X-linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3
Solomon, Nicola M, Ross, Shelley A, Forrest, Susan M, Thomas, Paul Q, Morgan, Thomas, Belsky, Joseph L, Hol, Frans A, Karnes, Pamela S, Hopwood, Nancy J, Myers, Susan E, Tan, Anjanette S, Warne, Garry L
Published in Journal of medical genetics (01.04.2007)
Published in Journal of medical genetics (01.04.2007)
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Journal Article
Spinocerebellar ataxia type 15
Gardner, R J McKinlay, Knight, Melanie A, Hara, Kenju, Tsuji, Shoji, Forrest, Susan M, Storey, Elsdon
Published in Cerebellum (London, England) (01.01.2005)
Published in Cerebellum (London, England) (01.01.2005)
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Association between dependent smoking and a polymorphism in the tyrosine hydroxylase gene in a prospective population-based study of adolescent health
Olsson, Craig, Anney, Richard, Forrest, Susan, Patton, George, Coffey, Carolyn, Cameron, Trevor, Hassett, Angela, Williamson, Robert
Published in Behavior genetics (01.01.2004)
Published in Behavior genetics (01.01.2004)
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Spinocerebellar ataxia type 20
Storey, Elsdon, Knight, Melanie A, Forrest, Susan M, Gardner, R J McKinlay
Published in Cerebellum (London, England) (01.01.2005)
Published in Cerebellum (London, England) (01.01.2005)
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Atomic force microscopy imaging of DNA-cationic liposome complexes optimised for gene transfection into neuronal cells
Wangerek, Louise A., Dahl, Hans-Henrik M., Senden, Tim J., Carlin, John B., Jans, David A., Dunstan, Dave E., Ioannou, Panayiotis A., Williamson, Robert, Forrest, Susan M.
Published in The journal of gene medicine (01.01.2001)
Published in The journal of gene medicine (01.01.2001)
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Progressive Patterned Scalp Hypotrichosis, with Wiry Hair, Onycholysis, and Intermittently Associated Cleft Lip and Palate: Clinical and Genetic Distinction from Marie Unna
Green, Jack, Fitzpatrick, Elizabeth, de Berker, David, Forrest, Susan M., Sinclair, Rodney D.
Published in The Journal of investigative dermatology symposium proceedings (01.06.2003)
Published in The Journal of investigative dermatology symposium proceedings (01.06.2003)
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