Publications

Publications of specific relevance to Predictive in vitro Models
2019

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, Turki SA, Anderson CA, Anney R, Antony D, Artigas MS, Ayub M, Bala S, Barrett JC and Barroso I (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
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
van der Klaauw AA, Croizier S, Mendes de Oliveira E, Stadler LKJ, Park S, Kong Y, Banton MC, Tandon P, Hendricks AE, Keogh JM, Riley SE, Papadia S, Henning E, Bounds R, Bochukova EG#38231#, Mistry V, O'Rahilly S, Simerly RB, Minchin JEN, Barroso I, Jones EY, Bouret SG and Farooqi IS (2019).
Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance. Cell vol. 176, (4) 729-742.e18.
10.1016/j.cell.2018.12.0092018
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.2018.03.0182017

Moir L, Bochukova EG#38231#, 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/s41598-017-03054-82016
BOCHUKOVA EG (2016).
Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis. American Society For Clinical Investigation Journal of Clinical Investigation 10.1172/JCI847472015

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/ncomms66812014

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
Pearce LR, Joe R, Doche ME, Su HW, Keogh JM, Henning E, Argetsinger LS, Bochukova EG#38231#, 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. Endocrinology vol. 155, (9) 3219-3226.
10.1210/en.2014-12642013

Pearce LR, Atanassova N, Banton MC, Bottomley B, Van Der Klaauw AA, Revelli JP, Hendricks A, Keogh JM, Henning E, Doree D, Jeter-Jones S, Garg S, Bochukova EG#38231#, Bounds R, Ashford S, Gayton E, Hindmarsh PC, Shield JPH, Crowne E, Barford D, Wareham NJ, O'Rahilly S, Murphy MP, Powell DR, Barroso I and Farooqi IS (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
Frank GR, Fox J, Candela N, Jovanovic Z, Bochukova E#38231#, Levine J, Papenhausen PR, O'Rahilly S and Farooqi IS (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
Ramachandrappa S, Raimondo A, Cali AMG, Keogh JM, Henning E, Saeed S, Thompson A, Garg S, Bochukova EG#38231#, 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#38231#, 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. Journal of Clinical Investigation vol. 123, (7) 3042-3050.
10.1172/JCI68016
Wheeler E, Huang N, Bochukova EG#38231#, Keogh JM, Lindsay S, Garg S, Henning E, Blackburn H, Loos RJ, 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. 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
Doche ME, Bochukova EG#38231#, 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)

Doche ME, Bochukova EG#38231#, 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 (vol 123, pg 526, 2013). Journal of Clinical Investigation vol. 123, (1) 526-526.
10.1172/JCI680222012

Doche ME, Bochukova EG#38231#, Su HW, Pearce LR, Keogh JM, Henning E, Cline JM, 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. 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/NEJMoa11102962010
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
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#38231#, 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 (2010).
Large, rare chromosomal deletions associated with severe early-onset obesity. Nature vol. 463, (7281) 666-670.
10.1038/nature086892009
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.208252007

Wilkie AOM, Bochukova EG#38231#, 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).
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#38231#, 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.
2006

Wilkie AOM, Bochukova EG#38231#, 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. 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/ddl0522004

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.04028191012003
2000

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)62962-01999
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