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Bergamaschi D, Vossenkamper A, Lee WYJ, Wang P, Bochukova E and Warnes G (2019). Simultaneous polychromatic flow cytometric detection of multiple forms of regulated cell death. Apoptosis  10.1007/s10495-019-01528-w

(2019). Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance. Cell  vol. 176, (4) 729-742.e18. 10.1016/j.cell.2018.12.009

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(2013). XKSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation. Cell  vol. 155, (4) 10.1016/j.cell.2013.09.058

Azizan EAB, Poulsen H, Tuluc P, Zhou J, Clausen MV, Lieb A, Maniero C, Garg S, Bochukova EG, Zhao W, Shaikh LH, Brighton CA, Teo AED, Davenport AP, Dekkers T, Tops B, Küsters B, Ceral J, Yeo GSH, Neogi SG, McFarlane I, Rosenfeld N, Marass F, Hadfield J, Margas W, Chaggar K, Solar M, Deinum J, Dolphin AC and Farooqi IS (2013). Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension. Nature Genetics  vol. 45, (9) 1055-1060. 10.1038/ng.2716

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(2013). Rare variants in single-minded 1 (SIM1) are associated with severe obesity. Journal of Clinical Investigation  vol. 123, (7) 3042-3050. 10.1172/JCI68016

(2013). Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity. Nature Genetics  vol. 45, (5) 513-517. 10.1038/ng.2607

Nag A, Bochukova EG, Kremeyer B, Campbell DD, Muller H, Valencia-Duarte AV, Cardona J, Rivas IC, Mesa SC, Cuartas M, Garcia J, Bedoya G, Cornejo W, Herrera LD, Romero R, Fournier E, Reus VI, Lowe TL, Farooqi IS, Mathews CA, McGrath LM, Yu D, Cook E, Wang K, Scharf JM, Pauls DL, Freimer NB, Plagnol V and Ruiz-Linares A (2013). CNV Analysis in Tourette Syndrome Implicates Large Genomic Rearrangements in COL8A1 and NRXN1. Plos One  vol. 8, (3) 10.1371/journal.pone.0059061

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Doche ME, Bochukova EG, Su H-W, Pearce LR, Keogh JM, Henning E, Cline JM, Saeed S, Dale A, Cheetham T, Barroso I, Argetsinger LS, O Rahilly S, Rui L, Carter-Su C and Farooqi IS (2013). Human SH2B1 mutations are associated with maladaptive behaviors and obesity. Journal of Clinical Investigation  vol. 123, (1) 526-526. 10.1172/jci68022

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Bochukova EG, Soneji S, Wall SA and Wilkie AOM (2010). Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis. Journal of Medical Genetics  vol. 47, (12) 803-808. 10.1136/jmg.2009.069617

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Bochukova EG, Roscioli T, Hedges DJ, Taylor IB, Johnson D, David DJ, Deininger PL and Wilkie AOM (2009). Rare mutations of FGFR2 causing apert syndrome: Identification of the first partial gene deletion, and an Alu element insertion from a new subfamily. Human Mutation  vol. 30, (2) 204-211. 10.1002/humu.20825

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Merrill AE, Bochukova EG, Brugger SM, Ishii M, Pilz DT, Wall SA, Lyons KM, Wilkie AOM and Maxson RE (2006). Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis. Human Molecular Genetics  vol. 15, (8) 1319-1328. 10.1093/hmg/ddl052

Twigg SRF, Kan R, Babbs C, Bochukova EG, Robertson SP, Wall SA, Morriss-Kay GM and Wilkie AOM (2004). Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proceedings of The National Academy of Sciences of The United States of America  vol. 101, (23) 8652-8657. 10.1073/pnas.0402819101

Bochukova EG, Jefferson A, Francis MJ and Monaco AP (2003). Genomic studies of gene expression: Regulation of the Wilson disease gene. Genomics  vol. 81, (6) 531-542. 10.1016/S0888-7543(03)00093-4

Németh AH, Bochukova E, Dunne E, Huson SM, Elston J, Hannan MA, Jackson M, Chapman CJ and Taylor AM (2000). Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34. Am J Hum Genet  vol. 67, (5) 1320-1326. 10.1016/S0002-9297(07)62962-0

Nemeth AH, Bochukova E, Dunne E, Huson SM, Elston J, Hannan MA, Jackson M, Chapman CJ and Taylor AMR (2000). Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34. American Journal of Human Genetics  vol. 67, (5) 1320-1326. 10.1016/S0002-9297(07)62962-0

Bochukova E (1999). Characterisation of Candidate Gene for DYT3. Ejifcc  vol. 11, (3) 70-73.

Németh AH, Nolte D, Dunne E, Niemann S, Kostrzewa M, Peters U, Fraser E, Bochukova E, Butler R, Brown J, Cox RD, Levy ER, Ropers HH, Monaco AP and Müller U (1999). Refined linkage disequilibrium and physical mapping of the gene locus for X-linked Dystonia-Parkinsonism (DYT3). Genomics  vol. 60, (3) 320-329. 10.1006/geno.1999.5929

Kremensky I, Jankova S, Bochukova E, Uzunova M, Litvinenko I and Jordanova A (1999). Molecular study of spinal muscular atrophy patients with hybrid genes in Bulgaria. Journal of Inherited Metabolic Disease  vol. 22, (3) 322-326. 10.1023/A:1005512306358