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(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. 10.1016/j.cmet.2020.05.007

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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. 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, McRae JF, Clayton S, Fitzgerald TW, Kaplanis J and Prigmore E (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 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

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. 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

(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

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, Richards JB, Greenwood CMT, Timpson NJ, Durbin R, Bala S, Clapham P and Coates G (2015). The UK10K project identifies rare variants in health and disease. Nature  vol. 526, (7571) 82-89. 10.1038/nature14962

Huang J, Howie B, McCarthy S, Memari Y, Walter K, Min JL, Danecek P, Malerba G, Trabetti E, Zheng HF, Gambaro G, Richards JB, Durbin R, Timpson NJ, Marchini J, Soranzo N, Al Turki S, Amuzu A, Anderson CA, Anney R, Antony D, Artigas MS, Ayub M, Bala S, Barrett JC, Barroso I, Beales P, Benn M, Bentham J and Bhattacharya S (2015). Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel. Nature Communications  vol. 6, 10.1038/ncomms9111

Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, Van Reeuwijk J, Plaza JM, 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, Witman GB, Al-Turki S, Anderson C and Anney R (2015). TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nature Communications  vol. 6, 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. Nature Communications  vol. 6, 10.1038/ncomms6681

Timpson NJ, Walter K, Min JL, Tachmazidou I, Malerba G, Shin SY, 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 AE, 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. Nature Communications  vol. 5, 10.1038/ncomms5871

(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

(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

(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

(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

(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

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

(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, Gevers E, Sarri M, Downes K, Offiah A, Albanese A, Halsall D, Schwabe JWR, Bain M, Lindley K, Muntoni F, Khadem FV, Dattani M, Farooqi IS, Gurnell M and Chatterjee K (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 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

(2010). Large, rare chromosomal deletions associated with severe early-onset obesity. Nature  vol. 463, (7281) 666-670. 10.1038/nature08689

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 JC, Lecoeur C, Vatin V, Bouquillon S, Buxton JL, Boute O, Holder-Espinasse M, Cuisset JM, Lemaitre MP, Ambresin AE, 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. Nature  vol. 463, (7281) 671-675. 10.1038/nature08727

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

(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

(2007). Clinical dividends from the molecular genetic diagnosis of craniosynostosis. American Journal of Medical Genetics. Part A  vol. 143, (16) 1941-1949.

(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 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