Elena G. Bochukova

Large, rare chromosomal deletions associated with severe early-onset obesity

Elena G. Bochukova, Ni Huang, Julia M. Keogh et al. · Nature · 2009 · 616 citations

Obesity, Metabolic Syndrome, Metabolic Disorder +4

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

Robin Walters, Sébastien Jacquemont, Armand Valsesia et al. · Nature · 2010 · 554 citations · Full text

Obesity, Metabolic Syndrome, Childhood Obesity +9

Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension

Elena Azizan, Hanne Poulsen, Petronel Tuluc et al. · Nature Genetics · 2013 · 525 citations · Full text

Hypertension, Adrenal Gland, Molecular Physiology +9

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Jie Huang, Bryan Howie, Shane McCarthy et al. · Nature Communications · 2015 · 374 citations · Full text

Mutations of ephrin-B1 (<i>EFNB1</i>), a marker of tissue boundary formation, cause craniofrontonasal syndrome

Stephen R.F. Twigg, Rui Kan, Christian Babbs et al. · Proceedings of the National Academy of Sciences · 2004 · 336 citations · Full text