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

Alu elements implicated in the generation of 9/20 CNV deletions investigated by breakpoint sequencing Tekijä 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 Tekijä 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 Tekijä 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. Tekijä 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 Tekijä 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 Tekijä 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. Tekijä 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. Tekijä 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. Tekijä 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. Tekijä 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 Tekijä 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