Human genes involved in copy number variation: mechanisms of origin, functional effects and implications for disease. 由 de Smith, A, Walters, R, Froguel, P, Blakemore, A

Alu elements implicated in the generation of 9/20 CNV deletions investigated by breakpoint sequencing 由 de Smith, A, Walters, R, Coin, L, Steinfeld, I, Yakhini, Z, Sladek, R, Froguel, P, Blakemore, A

Small deletion variants have stable breakpoints commonly associated with alu elements 由 De Smith, A, Walters, R, Coin, L, Steinfeld, I, Yakhini, Z, Sladek, R, Froguel, P, Blakemore, A

Identification and validation of novel genomic CNVs associated with Type 2 diabetes 由 Buxton, J, Coin, L, Walters, R, Andersson, J, de Smith, A, Moustafa, J, Sladek, R, Froguel, P, Blakemore, A

cnvHap: an integrative population and haplotype-based multiplatform model of SNPs and CNVs. 由 Coin, L, Asher, J, Walters, R, Moustafa, J, de Smith, A, Sladek, R, Balding, D, Froguel, P, Blakemore, A

CNVs in Obesity: Uncovering a New Level of Genomic Variation 由 Moustafa, J, Coin, L, de Smith, A, Walters, R, Buxton, J, Asher, J, Meyre, D, Dina, C, Froguel, P, Blakemore, A

Elucidating the aetiology of Prader-Willi syndrome: deletion of the HBII-85 class of snoRNA is associated with hyperphagia, obesity and hypogonadism 由 de Smith, A, Purmann, C, Walters, R, Ellis, R, Holder, SE, Haelst, v, Brady, A, Fairbrother, U, Dattani, M, Keogh, J, Henning, E, Yeo, G, O'Rahilly, S, Froguel, P, Farooqi, I, Blakemore, A

A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism. 由 de Smith, A, Purmann, C, Walters, R, Ellis, R, Holder, SE, Haelst, V, Brady, A, Fairbrother, U, Dattani, M, Keogh, J, Henning, E, Yeo, G, O'Rahilly, S, Froguel, P, Farooqi, I, Blakemore, A

FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity. 由 Fanciulli, M, Norsworthy, P, Petretto, E, Dong, R, Harper, L, Kamesh, L, Heward, J, Gough, S, de Smith, A, Blakemore, A, Froguel, P, Owen, C, Pearce, S, Teixeira, L, Guillevin, L, Graham, D, Pusey, C, Cook, H, Vyse, T, Aitman, T

Novel association approach for variable number tandem repeats (VNTRs) identifies DOCK5 as a susceptibility gene for severe obesity. 由 El-Sayed Moustafa, J, Eleftherohorinou, H, de Smith, A, Andersson-Assarsson, J, Alves, A, Hadjigeorgiou, E, Walters, R, Asher, J, Bottolo, L, Buxton, J, Sladek, R, Meyre, D, Dina, C, Visvikis-Siest, S, Jacobson, P, Sjöström, L, Carlsson, L, Walley, A, Falchi, M, Froguel, P, Blakemore, A, Coin, L

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. 由 Walters, R, Jacquemont, S, Valsesia, A, de Smith, A, Martinet, D, Andersson, J, Falchi, M, Chen, F, Andrieux, J, Lobbens, S, Delobel, B, Stutzmann, F, El-Sayed Moustafa, J, Chèvre, J, Lecoeur, C, Vatin, V, Bouquillon, S, Buxton, J, Boute, O, Holder-Espinasse, M, Cuisset, J, Lemaitre, M, Ambresin, A, Brioschi, A, Gaillard, M

Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity 由 Walters, R, Coin, L, Ruokonen, A, De Smith, A, El-Sayed Moustafa, J, Jacquemont, S, Elliott, P, Esko, T, Hartikainen, A, Laitinen, J, Männik, K, Martinet, D, Meyre, D, Nauck, M, Schurmann, C, Sladek, R, Thorleifsson, G, Thorsteinsdóttir, U, Valsesia, A, Waeber, G, Zufferey, F, Balkau, B, Pattou, F, Metspalu, A, Völzke, H, Vollenweider, P, Stefansson, K, Järvelin, MR, Beckmann, J, Froguel, P, Blakemore, A