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| A new highly penetrant form of obesity due to deletions on chromosome 16p11. 2 RG Walters, S Jacquemont, A Valsesia, AJ de Smith, D Martinet, ... Nature 463 (7281), 671-675, 2010 | 601 | 2010 |
| Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension EAB Azizan, H Poulsen, P Tuluc, J Zhou, MV Clausen, A Lieb, C Maniero, ... Nature genetics 45 (9), 1055-1060, 2013 | 537 | 2013 |
| A mutation in the thyroid hormone receptor alpha gene E Bochukova, N Schoenmakers, M Agostini, E Schoenmakers, ... New England Journal of Medicine 366 (3), 243-249, 2012 | 425 | 2012 |
| Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel J Huang, B Howie, S McCarthy, Y Memari, K Walter, JL Min, P Danecek, ... Nature communications 6 (1), 8111, 2015 | 418 | 2015 |
| Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome SRF Twigg, R Kan, C Babbs, EG Bochukova, SP Robertson, SA Wall, ... Proceedings of the National Academy of Sciences 101 (23), 8652-8657, 2004 | 377 | 2004 |
| Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity E Wheeler, N Huang, EG Bochukova, JM Keogh, S Lindsay, S Garg, ... Nature genetics 45 (5), 513-517, 2013 | 376 | 2013 |
| Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis AE Merrill, EG Bochukova, SM Brugger, M Ishii, DT Pilz, SA Wall, ... Human molecular genetics 15 (8), 1319-1328, 2006 | 238 | 2006 |
| Human SH2B1 mutations are associated with maladaptive behaviors and obesity ME Doche, EG Bochukova, HW Su, LR Pearce, JM Keogh, E Henning, ... The Journal of clinical investigation 122 (12), 4732-4736, 2012 | 208 | 2012 |
| KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation LR Pearce, N Atanassova, MC Banton, B Bottomley, AA van der Klaauw, ... Cell 155 (4), 765-777, 2013 | 195 | 2013 |
| Rare variants in single-minded 1 (SIM1) are associated with severe obesity S Ramachandrappa, A Raimondo, AMG Cali, JM Keogh, E Henning, ... The Journal of clinical investigation 123 (7), 3042-3050, 2013 | 185 | 2013 |
| Clinical dividends from the molecular genetic diagnosis of craniosynostosis AOM Wilkie, EG Bochukova, RMS Hansen, IB Taylor, SV Rannan‐Eliya, ... American Journal of Medical Genetics Part A 140 (23), 2631-2639, 2006 | 141 | 2006 |
| Whole-genome sequence-based analysis of thyroid function PN Taylor, E Porcu, S Chew, PJ Campbell, M Traglia, SJ Brown, ... Nature communications 6 (1), 5681, 2015 | 113 | 2015 |
| Autosomal Recessive Cerebellar Ataxia with Oculomotor Apraxia (Ataxia-Telangiectasia–Like Syndrome) Is Linked to Chromosome 9q34 AH Németh, E Bochukova, E Dunne, SM Huson, J Elston, MA Hannan, ... The American Journal of Human Genetics 67 (5), 1320-1326, 2000 | 111 | 2000 |
| Human semaphorin 3 variants link melanocortin circuit development and energy balance AA Van Der Klaauw, S Croizier, EM De Oliveira, LKJ Stadler, S Park, ... Cell 176 (4), 729-742. e18, 2019 | 102 | 2019 |
| CNV Analysis in Tourette Syndrome Implicates Large Genomic Rearrangements in COL8A1 and NRXN1 A Nag, EG Bochukova, B Kremeyer, DD Campbell, H Muller, ... Plos one 8 (3), e59061, 2013 | 98 | 2013 |
| A transcriptomic signature of the hypothalamic response to fasting and BDNF deficiency in Prader-Willi syndrome EG Bochukova, K Lawler, S Croizier, JM Keogh, N Patel, G Strohbehn, ... Cell reports 22 (13), 3401-3408, 2018 | 93 | 2018 |
| Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily EG Bochukova, T Roscioli, DJ Hedges, IB Taylor, D Johnson, DJ David, ... Human mutation 30 (2), 204-211, 2009 | 92 | 2009 |
| Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis E Schoenmakers, B Carlson, M Agostini, C Moran, O Rajanayagam, ... The Journal of clinical investigation 126 (3), 992-996, 2016 | 91 | 2016 |
| MC3R links nutritional state to childhood growth and the timing of puberty BYH Lam, A Williamson, S Finer, FR Day, JA Tadross, ... Nature 599 (7885), 436-441, 2021 | 84 | 2021 |
