An integrative epi-transcriptomic approach identifies the human cartilage chitinase 3-like protein 2 (CHI3L2) as a potential mediator of B12 deficiency in adipocytes
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
Epigenetics 
03-01-2022

MC3R links nutritional state to childhood growth and the timing of puberty
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
Nature, Springer Nature vol. 599 (7885), 436-441.  
03-11-2021

Transcriptomics of the Prader–Willi syndrome hypothalamus
Bochukova EG
Handbook of Clinical Neurology, Elsevier vol. 181, 369-379.  
01-01-2021

Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription
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
Cell Metabolism, Elsevier vol. 31 (6), 1107-1119.e12.  
01-06-2020

Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis
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
Nature Communications, Springer Nature vol. 10 (1) 
12-04-2019

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
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
American Journal of Human Genetics, Elsevier vol. 104 (5), 948-956.  
11-04-2019

Simultaneous polychromatic flow cytometric detection of multiple forms of regulated cell death.
Bergamaschi D, Vossenkamper A, Lee WYJ, Wang P, Bochukova E and Warnes G
Apoptosis 
20-02-2019

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume
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
Nature Communications, Springer Nature vol. 10 (1) 
21-01-2019

Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance
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
Cell, Elsevier vol. 176 (4), 729-742.e18.  
17-01-2019

A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome
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
Cell Reports, Elsevier vol. 22 (13), 3401-3408.  
01-03-2018

Central hypothyroidism with extrathyroidal features due to a partial X-chromosome deletion involving the TBL1X locus
van WE, Park S-M, Bochukova E, Nicholas AK, Lyons G, Chatterjee VK and Schoenmakers N
Endocrine Abstracts 
30-10-2017

Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety.
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
Molecular Metabolism, Elsevier vol. 6 (11), 1419-1428.  
24-08-2017

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.
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
Sci Rep, Macmillan Publishers Limited, Part of Springer Nature. vol. 7 (1), 4394-4394.  
29-06-2017

Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
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
Nature Communications, Springer Nature vol. 7 (1) 
29-03-2016

Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis
BOCHUKOVA EG
Journal of Clinical Investigation, American Society For Clinical Investigation 
08-02-2016

The UK10K project identifies rare variants in health and disease
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
Nature, Springer Nature vol. 526 (7571), 82-90.  
14-09-2015

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
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
Nature Communications, Springer Nature vol. 6 (1) 
14-09-2015

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
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
Nature Communications, Springer Nature vol. 6 (1) 
05-06-2015

Whole-genome sequence-based analysis of thyroid function
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
Nature Communications, Springer Nature vol. 6 (1) 
06-03-2015

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans
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
Nature Communications, Springer Nature vol. 5 (1) 
16-09-2014

Functional Characterization of Obesity-Associated Variants Involving the α and β Isoforms of Human SH2B1
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
Endocrinology, The Endocrine Society vol. 155 (9), 3219-3226.  
27-06-2014

KSR2 Mutations Are Associated with Obesity, Insulin Resistance, and Impaired Cellular Fuel Oxidation
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
Cell, Elsevier vol. 155 (4), 765-777.  
01-11-2013

Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension
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
Nature Genetics, Springer Nature vol. 45 (9), 1055-1060.  
04-08-2013

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)
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
Journal of Clinical Investigation vol. 123 (8) 
01-08-2013

Rare variants in single-minded 1 (SIM1) are associated with severe obesity
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
Journal of Clinical Investigation, American Society For Clinical Investigation vol. 123 (7), 3042-3050.  
17-06-2013

Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency
Frank GR, Fox J, Candela N, Jovanovic Z, Bochukova E, Levine J, Papenhausen PR, O'Rahilly S and Farooqi IS
Molecular Genetics and Metabolism, Elsevier vol. 110 (1-2), 191-194.  
17-04-2013

Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity
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
Nature Genetics, Springer Nature vol. 45 (5), 513-517.  
07-04-2013

Erratum: Human SH2B1 mutations are associated with maladaptive behaviors and obesity (Journal of Clinical Investigation (2013) 123:1 (526) DOI: 10.1172/JCI68022)
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
Journal of Clinical Investigation vol. 123 (1) 
02-01-2013

Human SH2B1 mutations are associated with maladaptive behaviors and obesity
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
Journal of Clinical Investigation, American Society For Clinical Investigation vol. 123 (1), 526-526.  
02-01-2013

CNV Analysis in Tourette Syndrome Implicates Large Genomic Rearrangements in COL8A1 and NRXN1
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
Plos One, Public Library of Science (Plos) vol. 8 (3) 
01-01-2013

Human SH2B1 mutations are associated with maladaptive behaviors and obesity
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
Journal of Clinical Investigation, American Society For Clinical Investigation vol. 122 (12), 4732-4736.  
19-11-2012

A Mutation in the Thyroid Hormone Receptor Alpha Gene
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
New England Journal of Medicine, Massachusetts Medical Society vol. 366 (3), 243-249.  
14-12-2011

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2
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
Nature, Springer Nature vol. 463 (7281), 671-675.  
01-02-2010

Large, rare chromosomal deletions associated with severe early-onset obesity
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
Nature, Springer Nature vol. 463 (7281), 666-670.  
06-12-2009

Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis
Bochukova EG, Soneji S, Wall SA and Wilkie AOM
Journal of Medical Genetics, Bmj vol. 47 (12) 
15-09-2009

Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily
Bochukova EG, Roscioli T, Hedges DJ, Taylor IB, Johnson D, David DJ, Deininger PL and Wilkie AOM
Human Mutation, Hindawi vol. 30 (2), 204-211.  
22-08-2008

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
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
American Journal of Medical Genetics. Part A vol. 143 (16), 1941-1949.  
15-08-2007

Clinical dividends from the molecular genetic diagnosis of craniosynostosis†
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
American Journal of Medical Genetics Part A, Wiley vol. 143A (16), 1941-1949.  
09-07-2007

Clinical dividends from the molecular genetic diagnosis of craniosynostosis
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
American Journal of Medical Genetics Part A, Wiley vol. 140A (23), 2631-2639.  
12-07-2006

Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis
Merrill AE, Bochukova EG, Brugger SM, Ishii M, Pilz DT, Wall SA, Lyons KM, Wilkie AOM and Maxson RE
Human Molecular Genetics, Oxford University Press (Oup) vol. 15 (8), 1319-1328.  
15-03-2006

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome
Twigg SRF, Kan R, Babbs C, Bochukova EG, Robertson SP, Wall SA, Morriss-Kay GM and Wilkie AOM
Proceedings of The National Academy of Sciences of The United States of America, Proceedings of The National Academy of Sciences vol. 101 (23), 8652-8657.  
27-05-2004

Genomic studies of gene expression: regulation of the Wilson disease gene
Bochukova EG, Jefferson A, Francis MJ and Monaco AP
Genomics, Elsevier vol. 81 (6), 531-542.  
01-06-2003

Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34.
Németh AH, Bochukova E, Dunne E, Huson SM, Elston J, Hannan MA, Jackson M, Chapman CJ and Taylor AM
Am J Hum Genet vol. 67 (5), 1320-1326.  
01-11-2000

Autosomal Recessive Cerebellar Ataxia with Oculomotor Apraxia (Ataxia-Telangiectasia–Like Syndrome) Is Linked to Chromosome 9q34
Németh AH, Bochukova E, Dunne E, Huson SM, Elston J, Hannan MA, Jackson M, Chapman CJ and Taylor AMR
American Journal of Human Genetics, Elsevier vol. 67 (5), 1320-1326.  
05-10-2000

Characterisation of Candidate Gene for DYT3.
Bochukova E
Electronic Journal of The International Federation of Clinical Chemistry and Laboratory Medicine vol. 11 (3), 70-73.  
07-12-1999

Refined Linkage Disequilibrium and Physical Mapping of the Gene Locus for X-Linked Dystonia–Parkinsonism (DYT3)
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
Genomics, Elsevier vol. 60 (3), 320-329.  
01-09-1999

Molecular study of spinal muscular atrophy patients with hybrid genes in Bulgaria
Kremensky I, Jankova S, Bochukova E, Uzunova M, Litvinenko I and Jordanova A
Journal of Inherited Metabolic Disease, Wiley vol. 22 (3), 322-326.  
01-05-1999