Publications: Dr Elena Bochukova

Ogunkolade BW, Adaikalakoteswari A, Cardoso SR, Lowe R, Patel N, Rakyan V, Finer S, Wabitsch M et al. ( 2022 ) . An integrative epi-transcriptomic approach identifies the human cartilage chitinase 3-like protein 2 (CHI3L2) as a potential mediator of B12 deficiency in adipocytes . Epigenetics

Lam BYH, Williamson A, Finer S, Day FR, Tadross JA, Gonçalves Soares A, Wade K, Sweeney P et al. ( 2021 ) . MC3R links nutritional state to childhood growth and the timing of puberty . Nature vol. 599 , ( 7885 ) 436 - 441 .

Bochukova EG ( 2021 ) . Transcriptomics of the Prader–Willi syndrome hypothalamus . Handbook of Clinical Neurology vol. 181 , 369 - 379 .

Marenne G, Hendricks AE, Perdikari A, Bounds R, Payne F, Keogh JM, Lelliott CJ, Henning E et al. ( 2020 ) . Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription . Cell Metabolism vol. 31 , ( 6 ) 1107 - 1119.e12 .

van WE, Park S-M, Bochukova E, Nicholas AK, Lyons G, Chatterjee VK, Schoenmakers N ( 2020 ) . Central hypothyroidism with extrathyroidal features due to a partial X-chromosome deletion involving the TBL1X locus . Endocrine Abstracts

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 )

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 .

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

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 )

van der Klaauw AA, Croizier S, de Oliveira EM, 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 .

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 .

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 .

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 .

Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J et al. ( 2016 ) . Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport . Nature Communications vol. 7 , ( 1 )

BOCHUKOVA EG ( 2016 ) . Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis . Journal of Clinical Investigation

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 , ( 1 )

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 - 90 .

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 , ( 1 )

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 , ( 1 )

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 . Nature Communications vol. 5 , ( 1 )

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 .

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 .

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 .

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 )

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 .

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 .

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 .

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 )

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 . Journal of Clinical Investigation vol. 123 , ( 1 ) 526 - 526 .

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 . Journal of Clinical Investigation vol. 122 , ( 12 ) 4732 - 4736 .

Bochukova E, Schoenmakers N, Agostini M, Schoenmakers E, Rajanayagam O, Keogh JM, Henning E, Reinemund J et al. ( 2011 ) . A Mutation in the Thyroid Hormone Receptor Alpha Gene . New England Journal of Medicine vol. 366 , ( 3 ) 243 - 249 .

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 .

Bochukova EG, Huang N, Keogh J, Henning E, Purmann C, Blaszczyk K, Saeed S, Hamilton-Shield J et al. ( 2009 ) . Large, rare chromosomal deletions associated with severe early-onset obesity . Nature vol. 463 , ( 7281 ) 666 - 670 .

Bochukova EG, Soneji S, Wall SA, Wilkie AOM ( 2009 ) . Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis . Journal of Medical Genetics vol. 47 , ( 12 )

Bochukova EG, Roscioli T, Hedges DJ, Taylor IB, Johnson D, David DJ, Deininger PL, Wilkie AOM ( 2008 ) . 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 .

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 ) . Clinical dividends from the molecular genetic diagnosis of craniosynostosis† . American Journal of Medical Genetics Part A vol. 143A , ( 16 ) 1941 - 1949 .

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. 140A , ( 23 ) 2631 - 2639 .

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 .

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 .

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 .

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 .

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 . American Journal of Human Genetics vol. 67 , ( 5 ) 1320 - 1326 .

Bochukova E ( 1999 ) . Characterisation of Candidate Gene for DYT3 . Electronic journal of the International Federation of Clinical Chemistry and Laboratory Medicine 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 .

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 .