| Genome-wide association study identifies novel breast cancer susceptibility loci DF Easton, KA Pooley, AM Dunning, PDP Pharoah, D Thompson, ... Nature 447 (7148), 1087-1093, 2007 | 2780 | 2007 |
| Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections DC Guo, H Pannu, V Tran-Fadulu, CL Papke, RK Yu, N Avidan, ... Nature genetics 39 (12), 1488-1493, 2007 | 997 | 2007 |
| Beckwith-Wiedemann syndrome and IVF: a case-control study J Halliday, K Oke, S Breheny, E Algar, DJ Amor The American Journal of Human Genetics 75 (3), 526-528, 2004 | 479 | 2004 |
| A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders Z Stark, TY Tan, B Chong, GR Brett, P Yap, M Walsh, A Yeung, H Peters, ... Genetics in medicine 18 (11), 1090-1096, 2016 | 399 | 2016 |
| Neocentromeres: role in human disease, evolution, and centromere study DJ Amor, KHA Choo The American Journal of Human Genetics 71 (4), 695-714, 2002 | 315 | 2002 |
| A review of known imprinting syndromes and their association with assisted reproduction technologies DJ Amor, J Halliday Human Reproduction 23 (12), 2826-2834, 2008 | 310 | 2008 |
| Extending the phenotype of recurrent rearrangements of 16p11. 2: deletions in mentally retarded patients without autism and in normal individuals EK Bijlsma, ACJ Gijsbers, JHM Schuurs-Hoeijmakers, A Van Haeringen, ... European journal of medical genetics 52 (2-3), 77-87, 2009 | 307 | 2009 |
| Diagnostic impact and cost-effectiveness of whole-exome sequencing for ambulant children with suspected monogenic conditions TY Tan, OJ Dillon, Z Stark, D Schofield, K Alam, R Shrestha, B Chong, ... JAMA pediatrics 171 (9), 855-862, 2017 | 304 | 2017 |
| Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study EK Bancroft, EC Page, E Castro, H Lilja, A Vickers, D Sjoberg, M Assel, ... European urology 66 (3), 489-499, 2014 | 290 | 2014 |
| RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation–Arteriovenous Malformation N Revencu, LM Boon, A Mendola, MR Cordisco, J Dubois, P Clapuyt, ... Human mutation 34 (12), 1632-1641, 2013 | 276 | 2013 |
| Human centromere repositioning “in progress” DJ Amor, K Bentley, J Ryan, J Perry, L Wong, H Slater, KHA Choo Proceedings of the National Academy of Sciences 101 (17), 6542-6547, 2004 | 260 | 2004 |
| Metalloprotease SPRTN/DVC1 orchestrates replication-coupled DNA-protein crosslink repair B Vaz, M Popovic, JA Newman, J Fielden, H Aitkenhead, S Halder, ... Molecular cell 64 (4), 704-719, 2016 | 241 | 2016 |
| Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology GR Wilson, JCH Sim, C McLean, M Giannandrea, CA Galea, JR Riseley, ... The American Journal of Human Genetics 95 (6), 729-735, 2014 | 240 | 2014 |
| Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling M Amyere, N Revencu, R Helaers, E Pairet, E Baselga, M Cordisco, ... Circulation 136 (11), 1037-1048, 2017 | 238 | 2017 |
| Building the centromere: from foundation proteins to 3D organization DJ Amor, P Kalitsis, H Sumer, KHA Choo Trends in cell biology 14 (7), 359-368, 2004 | 235 | 2004 |
| The genetic landscape of Diamond-Blackfan anemia JC Ulirsch, JM Verboon, S Kazerounian, MH Guo, D Yuan, LS Ludwig, ... The American Journal of Human Genetics 103 (6), 930-947, 2018 | 224 | 2018 |
| Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features D Lessel, B Vaz, S Halder, PJ Lockhart, I Marinovic-Terzic, ... Nature genetics 46 (11), 1239-1244, 2014 | 213 | 2014 |
| Dominant missense mutations in ABCC9 cause Cantú syndrome M Harakalova, JJT Van Harssel, PA Terhal, S Van Lieshout, K Duran, ... Nature genetics 44 (7), 793-796, 2012 | 208 | 2012 |
| Bioinformatics-based identification of expanded repeats: a non-reference intronic pentamer expansion in RFC1 causes CANVAS H Rafehi, DJ Szmulewicz, MF Bennett, NLM Sobreira, K Pope, KR Smith, ... The American Journal of Human Genetics 105 (1), 151-165, 2019 | 202 | 2019 |
| De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency R McFarland, DM Kirby, KJ Fowler, A Ohtake, MT Ryan, DJ Amor, ... Annals of Neurology: Official Journal of the American Neurological …, 2004 | 189 | 2004 |
