8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families von 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

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Reassignment of HMX1 indicates copy number variation within 4p16.1 may be an alternative cause of oculoauricular phenotypes von Barber, John C.K.

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Defensins and the dynamic genome: what we can learn from structural variation at human chromosome band 8p23.1 von Hollox, Edward J, Barber, John C K, Brookes, Anthony J, Armour, John A L

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8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients von 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.

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Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2 von Tyson, Christine, Sharp, Andrew J, Hrynchak, Monica, Yong, Siu L, Hollox, Edward J, Warburton, Peter, Barber, John Ck

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Transmitted deletions of medial 5p and learning difficulties; Does the cadherin cluster only become penetrant when flanking genes are deleted? von Barber, John C.K., Huang, Shuwen, Bateman, Mark S., Collins, Amanda L.

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A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect von Bateman, Mark S., Mehta, Sarju G., Willatt, Lionel, Selkirk, Elizabeth, Bedwell, Clare, Zwolinski, Simon, Sparnon, Leeanne, Simonic, Ingrid, Abbott, Kristin, Barber, John CK

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Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences von Barber, John C K, Thomas, N Simon, Collinson, Morag N, Dennis, Nick R, Liehr, Thomas, Weise, Anja, Belitz, Britta, Pfeiffer, Lutz, Kirchhoff, Maria, Krag-Olsen, Bente, Lundsteen, Claes

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Multipaint FISH: a rapid and reliable way to define cryptic and complex abnormalities von Joyce, Christine A, Ross, Fiona M, Dennis, Nicholas R, Wyre, Nicholas D, Barber, John Ck

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Repeated cytogenetic culture failure as an indicator of immunodeficiency von Barber, John CK, Walker, Joanna M, Barker, Margaret R, McNinch, Andrew W, Hallett, Richard J

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A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect von Bateman, Mark S., Mehta, Sarju G., Willatt, Lionel, Selkirk, Elizabeth, Bedwell, Clare, Zwolinski, Simon, Sparnon, Leeanne, Simonic, Ingrid, Abbott, Kristin, Barber, John CK

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