Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities
Bateman, Mark S., Collinson, Morag N., Bunyan, David J., Collins, Amanda L., Duncan, Philippa, Firth, Rachel, Harrison, Victoria, Homfray, Tessa, Huang, Shuwen, Kirk, Beth, Lachlan, Katherine L., Maloney, Viv K., Barber, John C. K.
Published in American journal of medical genetics. Part A (01.02.2018)
Published in American journal of medical genetics. Part A (01.02.2018)
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Journal Article
16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2
Barber, John C K, Hall, Victoria, Maloney, Viv K, Huang, Shuwen, Roberts, Angharad M, Brady, Angela F, Foulds, Nicki, Bewes, Beverley, Volleth, Marianne, Liehr, Thomas, Mehnert, Karl, Bateman, Mark, White, Helen
Published in European journal of human genetics : EJHG (01.02.2013)
Published in European journal of human genetics : EJHG (01.02.2013)
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Journal Article
Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties
GLANCY, Mary, BARNICOAT, Angela, BARBER, John C. K, VIJERATNAM, Rajan, DE SOUZA, Sharon, GILMORE, Joanne, HUANG, Shuwen, MALONEY, Viv K, THOMAS, N. Simon, BUNYAN, David J, JACKSON, Ann
Published in European journal of human genetics : EJHG (01.01.2009)
Published in European journal of human genetics : EJHG (01.01.2009)
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Journal Article
8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients
Barber, John C.K., Rosenfeld, Jill A., Foulds, Nicola, Laird, Sophie, Bateman, Mark S., Thomas, N. Simon, Baker, Samantha, Maloney, Viv K., Anilkumar, Arayamparambil, Smith, Wendy E., Banks, Valerie, Ellingwood, Sara, Kharbutli, Yara, Mehta, Lakshmi, Eddleman, Keith A., Marble, Michael, Zambrano, Regina, Crolla, John A., Lamb, Allen N.
Published in American journal of medical genetics. Part A (01.03.2013)
Published in American journal of medical genetics. Part A (01.03.2013)
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Journal Article
8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH
BARBER, John C. K, MALONEY, Viv K, ZWOLINSKI, Simon, PRESCOTT, Laura, CROW, Yanick, MORGAN, Rob, HOBSON, Emma, SHUWEN HUANG, BUNYAN, David J, CRESSWELL, Lara, KINNING, Esther, BENSON, Anna, CHEETHAM, Tim, WYLLIE, Jonathan, LYNCH, Sally Ann
Published in European journal of human genetics : EJHG (01.01.2008)
Published in European journal of human genetics : EJHG (01.01.2008)
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Journal Article
8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families
Barber, John Ck, Bunyan, Dave, Curtis, Merryl, Robinson, Denise, Morlot, Susanne, Dermitzel, Anette, Liehr, Thomas, Alves, Claudia, Trindade, Joana, Paramos, Ana I, Cooper, Clare, Ocraft, Kevin, Taylor, Emma-Jane, Maloney, Viv K
Published in Molecular cytogenetics (18.02.2010)
Published in Molecular cytogenetics (18.02.2010)
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Journal Article
Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy
Balasubramanian, Meena, Barber, John C.K., Collinson, Morag N., Huang, Shuwen, Maloney, Viv K., Bunyan, Dave, Foulds, Nicki
Published in American journal of medical genetics. Part A (01.04.2009)
Published in American journal of medical genetics. Part A (01.04.2009)
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Journal Article
Transmitted duplication of 12q21.32-12q22 includes 48 genes and has no apparent phenotypic consequences
Barber, John C.K., Maloney, Viv K., Kirchhoff, Maria, Thomas, N. Simon, Boyle, Tracy A., Castle, Bruce
Published in American journal of medical genetics. Part A (15.03.2007)
Published in American journal of medical genetics. Part A (15.03.2007)
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Journal Article
Pallister-Killian syndrome: a study of 22 British patients
Blyth, Moira, Maloney, Viv, Beal, Sarah, Collinson, Morag, Huang, Shuwen, Crolla, John, Temple, I Karen, Baralle, Diana
Published in Journal of medical genetics (01.07.2015)
Published in Journal of medical genetics (01.07.2015)
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Journal Article
Breakpoint Mapping and Array CGH in Translocations: Comparison of a Phenotypically Normal and an Abnormal Cohort
Baptista, Julia, Mercer, Catherine, Prigmore, Elena, Gribble, Susan M., Carter, Nigel P., Maloney, Viv, Thomas, N. Simon, Jacobs, Patricia A., Crolla, John A.
Published in American journal of human genetics (01.04.2008)
Published in American journal of human genetics (01.04.2008)
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Journal Article
Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2
Jones, Matthew L, Murden, Sherina L, Brooks, Claire, Maloney, Viv, Manning, Richard A, Gilmour, Kimberly C, Bharadwaj, Vandana, de la Fuente, Josu, Chakravorty, Subarna, Mumford, Andrew D
Published in BMC genetics (04.04.2013)
Published in BMC genetics (04.04.2013)
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Journal Article
Disruption of AP3B1by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2
Jones, Matthew L, Murden, Sherina L, Brooks, Claire, Maloney, Viv, Manning, Richard A, Gilmour, Kimberly C, Bharadwaj, Vandana, de la Fuente, Josu, Chakravorty, Subarna, Mumford, Andrew D
Published in BMC medical genetics (04.04.2013)
Published in BMC medical genetics (04.04.2013)
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Journal Article
A 2.3 Mb deletion of 17q24.2–q24.3 associated with ‘Carney Complex plus’
Blyth, Moira, Huang, Shuwen, Maloney, Viv, Crolla, John A, Karen Temple, I
Published in European journal of medical genetics (01.11.2008)
Published in European journal of medical genetics (01.11.2008)
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Journal Article
Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(4;11)(p16.2;p15.4)
Thomas, N. Simon, Maloney, Viv, Bryant, Victoria, Huang, Shuwen, Brewer, Carole, Lachlan, Katherine, Jacobs, Patricia A
Published in Human genetics (01.03.2009)
Published in Human genetics (01.03.2009)
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Journal Article
Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort
TURNER, Claire, LACHLAN, Katherine, AMERASINGHE, Nishani, HODGKINS, Peter, MALONEY, Viv, BARBER, John, TEMPLE, I. Karen
Published in European journal of human genetics : EJHG (01.06.2005)
Published in European journal of human genetics : EJHG (01.06.2005)
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Journal Article
Inverted Duplication of 1q32.1 to 1q44 Characterized by Array CGH and Review of Distal Iq Partial Trisomy
BALASUBRAMANIAN, Meena, BARBER, John C. K, COLLINSON, Morag N, SHUWEN HUANG, MALONEY, Viv K, BUNYAN, Dave, FOULDS, Nicki
Published in American journal of medical genetics. Part A (2009)
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Published in American journal of medical genetics. Part A (2009)
Journal Article
A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'
Blyth, Moira, Huang, Shuwen, Maloney, Viv, Crolla, John A, Karen Temple, I
Published in European journal of medical genetics (01.11.2008)
Published in European journal of medical genetics (01.11.2008)
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Journal Article
SHOX mutations in a family and a fetus with Langer mesomelic dwarfism
Thomas, N. Simon, Maloney, Viv, Bass, Paul, Mulik, Varsha, Wellesley, Diana, Castle, Bruce
Published in American journal of medical genetics. Part A (15.07.2004)
Published in American journal of medical genetics. Part A (15.07.2004)
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Journal Article