Elena G. Bochukova
Queen Mary University of London(GB)
Publications by Year
Research Areas
Genetic Associations and Epidemiology, Regulation of Appetite and Obesity, Congenital heart defects research, Craniofacial Disorders and Treatments, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Large, rare chromosomal deletions associated with severe early-onset obesity(2009)623 cited
- → A new highly penetrant form of obesity due to deletions on chromosome 16p11.2(2010)557 cited
- → Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension(2013)528 cited
- → Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel(2015)380 cited
- → Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome(2004)336 cited
- → Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity(2013)326 cited
- → Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport(2016)259 cited
- → Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis(2006)212 cited
- → KSR2 Mutations Are Associated with Obesity, Insulin Resistance, and Impaired Cellular Fuel Oxidation(2013)197 cited
- → Human SH2B1 mutations are associated with maladaptive behaviors and obesity(2012)193 cited