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Publications:  Dr Elena Bochukova

Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E et al.(2019). Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. Am J Hum Genet vol. 104, (5) 948-956.
10.1016/j.ajhg.2019.03.005
Yang Y, van der Klaauw AA, Zhu L, Cacciottolo TM, He Y, Stadler LKJ, Wang C, Xu P et al.(2019). Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis. Nat Commun vol. 10, (1)
10.1038/s41467-019-08737-6
Bergamaschi D, Vossenkamper A, Lee WYJ, Wang P, Bochukova E, Warnes G(2019). Simultaneous polychromatic flow cytometric detection of multiple forms of regulated cell death. Apoptosis
10.1007/s10495-019-01528-w
van der Klaauw AA, Croizier S, Mendes de Oliveira E, Stadler LKJ, Park S, Kong Y, Banton MC, Tandon P et al.(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
Haworth S, Shapland CY, Hayward C, Prins BP, Felix JF, Medina-Gomez C, Rivadeneira F, Wang C et al.(2019). Low-frequency variation in TP53 has large effects on head circumference and intracranial volume. Nat Commun vol. 10, (1)
10.1038/s41467-018-07863-x
Bochukova EG, Lawler K, Croizier S, Keogh JM, Patel N, Strohbehn G, Lo KK, Humphrey J et al.(2018). A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome. Cell Rep vol. 22, (13) 3401-3408.
10.1016/j.celrep.2018.03.018
Moir L, Bochukova EG, Dumbell R, Banks G, Bains RS, Nolan PM, Scudamore C, Simon M et al.(2017). Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety. Molecular Metabolism vol. 6, (11) 1419-1428.
10.1016/j.molmet.2017.08.006
Hendricks AE, Bochukova EG, Marenne G, Keogh JM, Atanassova N, Bounds R, Wheeler E, Mistry V et al.(2017). Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity. Sci Rep vol. 7, (1) 4394-4394.
10.1038/s41598-017-03054-8
BOCHUKOVA EG(2016). Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis. Journal of Clinical Investigation
10.1172/JCI84747
UK10K Consortium, Walter K, Min JL, Huang J, Crooks L, Memari Y, McCarthy S, Perry JRB et al.(2015). The UK10K project identifies rare variants in health and disease. Nature vol. 526, (7571) 82-90.
10.1038/nature14962
Huang J, Howie B, McCarthy S, Memari Y, Walter K, Min JL, Danecek P, Malerba G et al.(2015). Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel. Nat Commun vol. 6,
10.1038/ncomms9111
Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J et al.(2015). TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nat Commun vol. 6,
10.1038/ncomms8074
Taylor PN, Porcu E, Chew S, Campbell PJ, Traglia M, Brown SJ, Mullin BH, Shihab HA et al.(2015). Whole-genome sequence-based analysis of thyroid function. Nat Commun vol. 6,
10.1038/ncomms6681
Timpson NJ, Walter K, Min JL, Tachmazidou I, Malerba G, Shin S-Y, Chen L, Futema M et al.(2014). A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans. Nat Commun vol. 5,
10.1038/ncomms5871
Pearce LR, Joe R, Doche ME, Su H-W, Keogh JM, Henning E, Argetsinger LS, Bochukova EG et al.(2014). Functional characterization of obesity-associated variants involving the α and β isoforms of human SH2B1. Endocrinology vol. 155, (9) 3219-3226.
10.1210/en.2014-1264
Pearce LR, Atanassova N, Banton MC, Bottomley B, van der Klaauw AA, Revelli J-P, Hendricks A, Keogh JM et al.(2013). KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation. Cell vol. 155, (4) 765-777.
10.1016/j.cell.2013.09.058
Frank GR, Fox J, Candela N, Jovanovic Z, Bochukova E, Levine J, Papenhausen PR, O'Rahilly S et al.(2013). Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency. Mol Genet Metab vol. 110, (1-2) 191-194.
10.1016/j.ymgme.2013.04.005
Azizan EAB, Poulsen H, Tuluc P, Zhou J, Clausen MV, Lieb A, Maniero C, Garg S et al.(2013). Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension. Nat Genet vol. 45, (9) 1055-1060.
10.1038/ng.2716
Ramachandrappa S, Raimondo A, Cali AMG, Keogh JM, Henning E, Saeed S, Thompson A, Garg S et al.(2013). Erratum: Rare variants in single-minded 1 (SIM1) are associated with severe obesity (Journal of Clinical Investigation (2013) 123:7 (3042-3050) DOI: 10.1172/JCI68016). Journal of Clinical Investigation vol. 123, (8)
10.1172/JCI72103
Ramachandrappa S, Raimondo A, Cali AMG, Keogh JM, Henning E, Saeed S, Thompson A, Garg S et al.(2013). Rare variants in single-minded 1 (SIM1) are associated with severe obesity. J Clin Invest vol. 123, (7) 3042-3050.
10.1172/JCI68016
Wheeler E, Huang N, Bochukova EG, Keogh JM, Lindsay S, Garg S, Henning E, Blackburn H et al.(2013). Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity. Nat Genet vol. 45, (5) 513-517.
10.1038/ng.2607
Doche ME, Bochukova EG, Su HW, Pearce LR, Keogh JM, Henning E, Cline JM, Saeed S et al.(2013). Erratum: Human SH2B1 mutations are associated with maladaptive behaviors and obesity (Journal of Clinical Investigation (2013) 123:1 (526) DOI: 10.1172/JCI68022). Journal of Clinical Investigation vol. 123, (1)
Nag A, Bochukova EG, Kremeyer B, Campbell DD, Muller H, Valencia-Duarte AV, Cardona J, Rivas IC et al.(2013). CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1. PLoS One vol. 8, (3)
10.1371/journal.pone.0059061
Doche ME, Bochukova EG, Su H-W, Pearce LR, Keogh JM, Henning E, Cline JM, Saeed S et al.(2013). Human SH2B1 mutations are associated with maladaptive behaviors and obesity (vol 123, pg 526, 2013). JOURNAL OF CLINICAL INVESTIGATION vol. 123, (1) 526-526.
10.1172/JCI68022
Doche ME, Bochukova EG, Su H-W, Pearce LR, Keogh JM, Henning E, Cline JM, Saeed S et al.(2012). Human SH2B1 mutations are associated with maladaptive behaviors and obesity. J Clin Invest vol. 122, (12) 4732-4736.
10.1172/JCI62696
Bochukova E, Schoenmakers N, Agostini M, Schoenmakers E, Rajanayagam O, Keogh JM, Henning E, Reinemund J et al.(2012). A mutation in the thyroid hormone receptor alpha gene. N Engl J Med vol. 366, (3) 243-249.
10.1056/NEJMoa1110296
Bochukova EG, Soneji S, Wall SA, Wilkie AOM(2010). Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis. J Med Genet vol. 47, (12) 803-808.
10.1136/jmg.2009.069617
Walters RG, Jacquemont S, Valsesia A, de Smith AJ, Martinet D, Andersson J, Falchi M, Chen F et al.(2010). A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature vol. 463, (7281) 671-675.
10.1038/nature08727
Bochukova EG, Huang N, Keogh J, Henning E, Purmann C, Blaszczyk K, Saeed S, Hamilton-Shield J et al.(2010). Large, rare chromosomal deletions associated with severe early-onset obesity. Nature vol. 463, (7281) 666-670.
10.1038/nature08689
Bochukova EG, Roscioli T, Hedges DJ, Taylor IB, Johnson D, David DJ, Deininger PL, 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. Hum Mutat vol. 30, (2) 204-211.
10.1002/humu.20825
Wilkie AOM, Bochukova EG, Hansen RMS, Taylor IB, Rannan-Eliya SV, Byren JC, Wall SA, Ramos L et al.(2007). Clinical dividends from the molecular genetic diagnosis of craniosynostosis. Am J Med Genet A vol. 143A, (16) 1941-1949.
10.1002/ajmg.a.31905
Wilkie AOM, Bochukova EG, Hansen RMS, Taylor IB, Rannan-Eliya SV, Byren JC, Wall SA, Ramos L et al.(2006). Clinical dividends from the molecular genetic diagnosis of craniosynostosis. Am J Med Genet A vol. 140, (23) 2631-2639.
10.1002/ajmg.a.31366
Merrill AE, Bochukova EG, Brugger SM, Ishii M, Pilz DT, Wall SA, Lyons KM, Wilkie AOM et al.(2006). Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis. Hum Mol Genet vol. 15, (8) 1319-1328.
10.1093/hmg/ddl052
Twigg SRF, Kan R, Babbs C, Bochukova EG, Robertson SP, Wall SA, Morriss-Kay GM, Wilkie AOM(2004). Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proc Natl Acad Sci U S A vol. 101, (23) 8652-8657.
10.1073/pnas.0402819101
Bochukova EG, Jefferson A, Francis MJ, 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
Nemeth AH, Dunne E, Bomont P, Moreira M, Bochukova E, Huson SM, Taylor AMR, Koenig M (2001). Genes for autosomal recessive cerebellar ataxia: order from chaos?. JOURNAL OF MEDICAL GENETICS. vol. 38, S58-S58.
Németh AH, Bochukova E, Dunne E, Huson SM, Elston J, Hannan MA, Jackson M, Chapman CJ et al.(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 et al.(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 et al.(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, Jordanova A(1999). Molecular study of spinal muscular atrophy patients with hybrid genes in Bulgaria. J Inherit Metab Dis vol. 22, (3) 322-326.
10.1023/a:1005512306358
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