Elena Bochukova

Elena Bochukova

Queen Mary University of London - London / United Kingdom
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 1359145
person_outline Elena Bochukova's MOST POPULAR ARTICLES
1-) Large, rare chromosomal deletions associated with severe early-onset obesityEG Bochukova, NI Huang, J Keogh, E Henning, C Purmann, K Blaszczyk, ...Nature 463 (7281), 666-670, 20106152010
2-) A new highly penetrant form of obesity due to deletions on chromosome 16p11. 2RG Walters, S Jacquemont, A Valsesia, AJ De Smith, D Martinet, ...Nature 463 (7281), 671-675, 20105602010
3-) Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertensionEAB Azizan, H Poulsen, P Tuluc, J Zhou, MV Clausen, A Lieb, C Maniero, ...Nature genetics 45 (9), 1055-1060, 20134812013
4-) Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panelJ Huang, B Howie, S McCarthy, Y Memari, K Walter, JL Min, P Danecek, ...Nature communications 6 (1), 8111, 20154342015
5-) A mutation in the thyroid hormone receptor alpha geneE Bochukova, N Schoenmakers, M Agostini, E Schoenmakers, ...New England Journal of Medicine 366 (3), 243-249, 20124302012