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Publications:  Dr Elena Bochukova

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. Nature Communications vol. 10, (1)
10.1038/s41467-018-07863-x
https://qmro.qmul.ac.uk/xmlui/handle/123456789/55462
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. Nature Communications vol. 10, (1)
10.1038/s41467-019-08737-6
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. American Journal of Human Genetics vol. 104, (5) 948-956.
10.1016/j.ajhg.2019.03.005
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
https://qmro.qmul.ac.uk/xmlui/handle/123456789/57726
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
https://qmro.qmul.ac.uk/xmlui/handle/123456789/57397
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 Reports vol. 22, (13) 3401-3408.
10.1016/j.celrep.2018.03.018
https://qmro.qmul.ac.uk/xmlui/handle/123456789/41683
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
https://qmro.qmul.ac.uk/xmlui/handle/123456789/41685
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
https://qmro.qmul.ac.uk/xmlui/handle/123456789/33964
BOCHUKOVA EG(2016). Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis. Journal of Clinical Investigation
10.1172/JCI84747
Walter K, Min JL, Huang J, Crooks L, Memari Y, McCarthy S, Perry JRB, Xu C et al.(2015). The UK10K project identifies rare variants in health and disease. Nature vol. 526, (7571) 82-89.
10.1038/nature14962
https://qmro.qmul.ac.uk/xmlui/handle/123456789/54492
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. Nature Communications vol. 6,
10.1038/ncomms9111
https://qmro.qmul.ac.uk/xmlui/handle/123456789/54488
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. Nature Communications vol. 6,
10.1038/ncomms8074
https://qmro.qmul.ac.uk/xmlui/handle/123456789/54494
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. Nature Communications vol. 6,
10.1038/ncomms6681
https://qmro.qmul.ac.uk/xmlui/handle/123456789/28888
Timpson NJ, Walter K, Min JL, Tachmazidou I, Malerba G, Shin SY, Chen L, Futema M et al.(2014). A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans. Nature Communications vol. 5,
10.1038/ncomms5871
https://qmro.qmul.ac.uk/xmlui/handle/123456789/54490
Pearce LR, Joe R, Doche ME, Su HW, 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 JP, Hendricks A, Keogh JM et al.(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
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. Molecular Genetics and Metabolism 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. Nature Genetics 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. Journal of Clinical Investigation 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. 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 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
https://qmro.qmul.ac.uk/xmlui/handle/123456789/13520
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)
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 HW, Pearce LR, Keogh JM, Henning E, Cline JM, Dale A et al.(2012). Human SH2B1 mutations are associated with maladaptive behaviors and obesity. Journal of Clinical Investigation 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. New England Journal of Medicine 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. Journal of Medical Genetics vol. 47, (12) 803-808.
10.1136/jmg.2009.069617
https://qmro.qmul.ac.uk/xmlui/handle/123456789/13615
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
https://qmro.qmul.ac.uk/xmlui/handle/123456789/13614
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. Human Mutation 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. American journal of medical genetics. Part A vol. 143, (16) 1941-1949.
Wilkie AOM, Bochukova EG, Hansen RMS, Taylor IB, Rannan-Eliya SV, Byren JC, Wall SA, Ramos L et al.(2007). Erratum: Clinical dividends from the molecular genetic diagnosis of craniosynostosis (Journal of Medical Genetics Part A 140A, (2631-2639)). American Journal of Medical Genetics, Part A vol. 143, (16)
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. American Journal of Medical Genetics, Part 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. 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, 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, 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. Journal of Inherited Metabolic Disease vol. 22, (3) 322-326.
10.1023/A:1005512306358
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