Ogunkolade BW, Adaikalakoteswari A, Cardoso SR, Lowe R, Patel N, Rakyan V, Finer S, Wabitsch M, Saravanan P, Tripathi G, Bochukova E and Hitman GA (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  10.1080/15592294.2021.2003043

Lam BYH, Williamson A, Finer S, Day FR, Tadross JA, Gonçalves Soares A, Wade K, Sweeney P, Bedenbaugh MN, Porter DT, Melvin A, Ellacott KLJ, Lippert RN, Buller S, Rosmaninho-Salgado J, Dowsett GKC, Ridley KE, Xu Z, Cimino I, Rimmington D, Rainbow K, Duckett K, Holmqvist S, Khan A, Dai X, Bochukova EG, Trembath RC, Martin HC, Coll AP and Rowitch DH (2021). MC3R links nutritional state to childhood growth and the timing of puberty. Springer Nature  Nature  vol. 599, (7885) 436-441. 10.1038/s41586-021-04088-9

Bochukova EG (2021). Transcriptomics of the Prader–Willi syndrome hypothalamus. Elsevier  Handbook of Clinical Neurology  vol. 181, 369-379. 10.1016/B978-0-12-820683-6.00027-0

Marenne G, Hendricks AE, Perdikari A, Bounds R, Payne F, Keogh JM, Lelliott CJ, Henning E, Pathan S, Ashford S, Bochukova EG, Mistry V, Daly A, Hayward C, INTERVAL UC, Wareham NJ, O’Rahilly S, Langenberg C, Wheeler E, Zeggini E, Farooqi IS and Barroso I (2020). Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription. Elsevier  Cell Metabolism  vol. 31, (6) 1107-1119.e12. 10.1016/j.cmet.2020.05.007

Yang Y, van der Klaauw AA, Zhu L, Cacciottolo TM, He Y, Stadler LKJ, Wang C, Xu P, Saito K, Hinton A, Yan X, Keogh JM, Henning E, Banton MC, Hendricks AE, Bochukova EG, Mistry V, Lawler KL, Liao L, Xu J, O’Rahilly S, Tong Q, Inês Barroso , O’Malley BW, Farooqi IS and Xu Y (2019). Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis. Springer Nature  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, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G, Millichap JJ, Carvill GL, Clayton-Smith J, Maher E and Raymond L (2019). Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. Elsevier  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 and Warnes G (2019). Simultaneous polychromatic flow cytometric detection of multiple forms of regulated cell death. Apoptosis  10.1007/s10495-019-01528-w

Haworth S, Shapland CY, Hayward C, Prins BP, Felix JF, Medina-Gomez C, Rivadeneira F, Wang C, Ahluwalia TS, Vrijheid M, Guxens M, Sunyer J, Tachmazidou I, Walter K, Iotchkova V, Jackson A, Cleal L, Huffmann J, Min JL, Sass L, Timmers PRHJ, Davey Smith G, Fisher SE, Wilson JF, Cole TJ, Fernandez-Orth D, Bønnelykke K, Bisgaard H, Pennell CE and Jaddoe VWV (2019). Low-frequency variation in TP53 has large effects on head circumference and intracranial volume. Springer Nature  Nature Communications  vol. 10, (1) 10.1038/s41467-018-07863-x

van der Klaauw AA, Croizier S, de Oliveira EM, Stadler LKJ, Park S, Kong Y, Banton MC, Tandon P, Hendricks AE, Keogh JM, Riley SE, Papadia S, Henning E, Bounds R, Bochukova EG, Mistry V, O’Rahilly S, Simerly RB, INTERVAL , Consortium U, Minchin JEN, Barroso I, Jones EY, Bouret SG and Farooqi IS (2019). Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance. Elsevier  Cell  vol. 176, (4) 729-742.e18. 10.1016/j.cell.2018.12.009

Bochukova EG, Lawler K, Croizier S, Keogh JM, Patel N, Strohbehn G, Lo KK, Humphrey J, Hokken-Koelega A, Damen L, Donze S, Bouret SG, Plagnol V and Farooqi IS (2018). A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome. Elsevier  Cell Reports  vol. 22, (13) 3401-3408. 10.1016/j.celrep.2018.03.018

van WE, Park S-M, Bochukova E, Nicholas AK, Lyons G, Chatterjee VK and Schoenmakers N (2017). Central hypothyroidism with extrathyroidal features due to a partial X-chromosome deletion involving the TBL1X locus. Endocrine Abstracts  10.1530/endoabs.51.oc5.8

Moir L, Bochukova EG, Dumbell R, Banks G, Bains RS, Nolan PM, Scudamore C, Simon M, Watson KA, Keogh J, Henning E, Hendricks A, O'Rahilly S, Barroso I, UK10K consortium , Sullivan AE, Bersten DC, Whitelaw ML, Kirsch S, Bentley E, Farooqi IS and Cox RD (2017). Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety. Elsevier  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, Henning E, Körner A, Muddyman D, McCarthy S, Hinney A, Hebebrand J, Scott RA, Langenberg C, Wareham NJ, Surendran P, Howson JM, Butterworth AS, Danesh J, Nordestgaard BG, Nielsen SF, Afzal S, Papadia S, Ashford S, Garg S, Millhauser GL, Palomino RI and Kwasniewska A (2017). Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity. Macmillan Publishers Limited, Part of Springer Nature.  Sci Rep  vol. 7, (1) 4394-4394. 10.1038/s41598-017-03054-8

Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza J-M, van Beersum SEC, Yap ZM, Letteboer SJF, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM, Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM and Witman GB (2016). Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Springer Nature  Nature Communications  vol. 7, (1) 10.1038/ncomms11270

BOCHUKOVA EG (2016). Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis. American Society For Clinical Investigation  Journal of Clinical Investigation  10.1172/JCI84747

Walter K, Min JL, Huang J, Crooks L, Memari Y, McCarthy S, Perry JRB, Xu C, Futema M, Lawson D, Iotchkova V, Schiffels S, Hendricks AE, Danecek P, Li R, Floyd J, Wain LV, Barroso I, Humphries SE, Hurles ME, Zeggini E, Barrett JC, Plagnol V, Brent Richards J, Greenwood CMT, Timpson NJ, Durbin R, Soranzo N, Bala S and Clapham P (2015). The UK10K project identifies rare variants in health and disease. Springer Nature  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, Trabetti E, Zheng H-F, Gambaro G, Richards JB, Durbin R, Timpson NJ, Marchini J and Soranzo N (2015). Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel. Springer Nature  Nature Communications  vol. 6, (1) 10.1038/ncomms9111

Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza J-M, van Beersum SEC, Yap ZM, Letteboer SJF, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM, Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM and Witman GB (2015). TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Springer Nature  Nature Communications  vol. 6, (1) 10.1038/ncomms8074

Taylor PN, Porcu E, Chew S, Campbell PJ, Traglia M, Brown SJ, Mullin BH, Shihab HA, Min J, Walter K, Memari Y, Huang J, Barnes MR, Beilby JP, Charoen P, Danecek P, Dudbridge F, Forgetta V, Greenwood C, Grundberg E, Johnson AD, Hui J, Lim EM, McCarthy S, Muddyman D, Panicker V, Perry JRB, Bell JT, Yuan W and Relton C (2015). Whole-genome sequence-based analysis of thyroid function. Springer Nature  Nature Communications  vol. 6, (1) 10.1038/ncomms6681

Timpson NJ, Walter K, Min JL, Tachmazidou I, Malerba G, Shin S-Y, Chen L, Futema M, Southam L, Iotchkova V, Cocca M, Huang J, Memari Y, McCarthy S, Danecek P, Muddyman D, Mangino M, Menni C, Perry JRB, Ring SM, Gaye A, Dedoussis G, Farmaki A-E, Burton P, Talmud PJ, Gambaro G, Spector TD, Smith GD, Durbin R and Richards JB (2014). A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans. Springer Nature  Nature Communications  vol. 5, (1) 10.1038/ncomms5871

Pearce LR, Joe R, Doche ME, Su H-W, Keogh JM, Henning E, Argetsinger LS, Bochukova EG, Cline JM, Garg S, Saeed S, Shoelson S, O'Rahilly S, Barroso I, Rui L, Farooqi IS and Carter-Su C (2014). Functional Characterization of Obesity-Associated Variants Involving the α and β Isoforms of Human SH2B1. The Endocrine Society  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, Henning E, Doree D, Jeter-Jones S, Garg S, Bochukova EG, Bounds R, Ashford S, Gayton E, Hindmarsh PC, Shield JPH, Crowne E, Barford D, Wareham NJ, consortium U, O’Rahilly S, Murphy MP, Powell DR, Barroso I and Farooqi IS (2013). KSR2 Mutations Are Associated with Obesity, Insulin Resistance, and Impaired Cellular Fuel Oxidation. Elsevier  Cell  vol. 155, (4) 765-777. 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. Springer Nature  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, Bochukova EG, Brage S, Trowse V, Wheeler E, Sullivan AE, Dattani M, Clayton PE, Datta V, Bruning JB, Wareham NJ, O'Rahilly S, Peet DJ, Barroso I, Whitelaw ML and Farooqi IS (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, Bochukova EG, Brage S, Trowse V, Wheeler E, Sullivan AE, Dattani M, Clayton PE, Datta V, Bruning JB, Wareham NJ, O’Rahilly S, Peet DJ, Barroso I, Whitelaw ML and Farooqi IS (2013). Rare variants in single-minded 1 (SIM1) are associated with severe obesity. American Society For Clinical Investigation  Journal of Clinical Investigation  vol. 123, (7) 3042-3050. 10.1172/jci68016

Frank GR, Fox J, Candela N, Jovanovic Z, Bochukova E, Levine J, Papenhausen PR, O'Rahilly S and Farooqi IS (2013). Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency. Elsevier  Molecular Genetics and Metabolism  vol. 110, (1-2) 191-194. 10.1016/j.ymgme.2013.04.005

Wheeler E, Huang N, Bochukova EG, Keogh JM, Lindsay S, Garg S, Henning E, Blackburn H, Loos RJF, Wareham NJ, O'Rahilly S, Hurles ME, Barroso I and Farooqi IS (2013). Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity. Springer Nature  Nature Genetics  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, Dale A, Cheetham T, Barroso I, Argetsinger LS, O'Rahilly S, Rui L, Carter-Su C and Farooqi IS (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) 10.1172/jci68022

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. American Society For Clinical Investigation  Journal of Clinical Investigation  vol. 123, (1) 526-526. 10.1172/jci68022

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, Genetics TTSAICF, 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. Public Library of Science (Plos)  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, Dale A, Cheetham T, Barroso I, Argetsinger LS, O'Rahilly S, Rui L, Carter-Su C and Farooqi IS (2012). Human SH2B1 mutations are associated with maladaptive behaviors and obesity. American Society For Clinical Investigation  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, Gevers E, Sarri M, Downes K, Offiah A, Albanese A, Halsall D, Schwabe JWR, Bain M, Lindley K, Muntoni F, Vargha-Khadem F, Dattani M, Farooqi IS, Gurnell M and Chatterjee K (2011). A Mutation in the Thyroid Hormone Receptor Alpha Gene. Massachusetts Medical Society  New England Journal of Medicine  vol. 366, (3) 243-249. 10.1056/nejmoa1110296

Walters RG, Jacquemont S, Valsesia A, de Smith AJ, Martinet D, Andersson J, Falchi M, Chen F, Andrieux J, Lobbens S, Delobel B, Stutzmann F, El-Sayed Moustafa JS, Chèvre J-C, Lecoeur C, Vatin V, Bouquillon S, Buxton JL, Boute O, Holder-Espinasse M, Cuisset J-M, Lemaitre M-P, Ambresin A-E, Brioschi A, Gaillard M, Giusti V, Fellmann F, Ferrarini A, Hadjikhani N and Campion D (2010). A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Springer Nature  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, Clayton-Smith J, O’Rahilly S, Hurles ME and Farooqi IS (2009). Large, rare chromosomal deletions associated with severe early-onset obesity. Springer Nature  Nature  vol. 463, (7281) 666-670. 10.1038/nature08689

Bochukova EG, Soneji S, Wall SA and Wilkie AOM (2009). Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis. Bmj  Journal of Medical Genetics  vol. 47, (12) 10.1136/jmg.2009.069617

Bochukova EG, Roscioli T, Hedges DJ, Taylor IB, Johnson D, David DJ, Deininger PL and 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. Hindawi  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, Venâncio M, Hurst JA, O'rourke AW, Williams LJ, Seller A and Lester T (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, Venâncio M, Hurst JA, O'Rourke AW, Williams LJ, Seller A and Lester T (2007). Clinical dividends from the molecular genetic diagnosis of craniosynostosis†. Wiley  American Journal of Medical Genetics Part 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, Venâncio M, Hurst JA, O'Rourke AW, Williams LJ, Seller A and Lester T (2006). Clinical dividends from the molecular genetic diagnosis of craniosynostosis. Wiley  American Journal of Medical Genetics Part A  vol. 140A, (23) 2631-2639. 10.1002/ajmg.a.31366

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. Oxford University Press (Oup)  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  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. Elsevier  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

Németh 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. Elsevier  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. 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, Butler R, Brown J, Cox RD, Levy ER, Ropers H-H, Monaco AP and Müller U (1999). Refined Linkage Disequilibrium and Physical Mapping of the Gene Locus for X-Linked Dystonia–Parkinsonism (DYT3). Elsevier  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. Wiley  Journal of Inherited Metabolic Disease  vol. 22, (3) 322-326. 10.1023/a:1005512306358