| Fine-scale structural variation of the human genome E Tuzun, AJ Sharp, JA Bailey, R Kaul, VA Morrison, LM Pertz, E Haugen, ... Nature genetics 37 (7), 727-732, 2005 | 1332 | 2005 |
| Segmental duplications and copy-number variation in the human genome AJ Sharp, DP Locke, SD McGrath, Z Cheng, JA Bailey, RU Vallente, ... The American Journal of Human Genetics 77 (1), 78-88, 2005 | 1210 | 2005 |
| Recurrent rearrangements of chromosome 1q21. 1 and variable pediatric phenotypes HC Mefford, AJ Sharp, C Baker, A Itsara, Z Jiang, K Buysse, S Huang, ... New England Journal of Medicine 359 (16), 1685-1699, 2008 | 850 | 2008 |
| Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome AJ Sharp, S Hansen, RR Selzer, Z Cheng, R Regan, JA Hurst, H Stewart, ... Nature genetics 38 (9), 1038-1042, 2006 | 730 | 2006 |
| 15q13. 3 microdeletions increase risk of idiopathic generalized epilepsy I Helbig, HC Mefford, AJ Sharp, M Guipponi, M Fichera, A Franke, ... Nature genetics 41 (2), 160-162, 2009 | 682 | 2009 |
| A recurrent 15q13. 3 microdeletion syndrome associated with mental retardation and seizures AJ Sharp, HC Mefford, K Li, C Baker, C Skinner, RE Stevenson, ... Nature genetics 40 (3), 322-328, 2008 | 658 | 2008 |
| Age-and tissue-specific variation of X chromosome inactivation ratios in normal women A Sharp, D Robinson, P Jacobs Human genetics 107, 343-349, 2000 | 404 | 2000 |
| Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome DP Locke, AJ Sharp, SA McCarroll, SD McGrath, TL Newman, Z Cheng, ... The American journal of human genetics 79 (2), 275-290, 2006 | 398 | 2006 |
| DNA methylation profiles of human active and inactive X chromosomes AJ Sharp, E Stathaki, E Migliavacca, M Brahmachary, SB Montgomery, ... Genome research 21 (10), 1592-1600, 2011 | 372 | 2011 |
| Abundant contribution of short tandem repeats to gene expression variation in humans M Gymrek, T Willems, A Guilmatre, H Zeng, B Markus, S Georgiev, ... Nature genetics 48 (1), 22-29, 2016 | 368 | 2016 |
| Structural variation of the human genome AJ Sharp, Z Cheng, EE Eichler Annu. Rev. Genomics Hum. Genet. 7 (1), 407-442, 2006 | 343 | 2006 |
| Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome BWM Van Bon, HC Mefford, B Menten, DA Koolen, AJ Sharp, ... Journal of medical genetics 46 (8), 511-523, 2009 | 314 | 2009 |
| Recurrent reciprocal deletions and duplications of 16p13. 11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant FD Hannes, AJ Sharp, HC Mefford, T de Ravel, CA Ruivenkamp, ... Journal of medical genetics 46 (4), 223-232, 2009 | 308 | 2009 |
| Epigenome-wide differences in pathology-free regions of multiple sclerosis–affected brains JL Huynh, P Garg, TH Thin, S Yoo, R Dutta, BD Trapp, V Haroutunian, ... Nature neuroscience 17 (1), 121-130, 2014 | 304 | 2014 |
| Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy HC Mefford, S Clauin, AJ Sharp, RS Moller, R Ullmann, R Kapur, D Pinkel, ... The American Journal of Human Genetics 81 (5), 1057-1069, 2007 | 295 | 2007 |
| Clinical and molecular delineation of the 17q21. 31 microdeletion syndrome DA Koolen, AJ Sharp, JA Hurst, HV Firth, SJL Knight, A Goldenberg, ... Journal of medical genetics 45 (11), 710-720, 2008 | 254 | 2008 |
| Identification of the translocation breakpoints in the Ts65Dn and Ts1Cje mouse lines: relevance for modeling Down syndrome A Duchon, M Raveau, C Chevalier, V Nalesso, AJ Sharp, Y Herault Mammalian Genome 22, 674-684, 2011 | 252 | 2011 |
| The genetics of microdeletion and microduplication syndromes: an update CT Watson, MB Tomas, AJ Sharp, HC Mefford Annual review of genomics and human genetics 15 (1), 215-244, 2014 | 219 | 2014 |
| Xp deletions associated with autism in three females NS Thomas, AJ Sharp, CE Browne, D Skuse, C Hardie, NR Dennis Human genetics 104, 43-48, 1999 | 213 | 1999 |
| Characterization of a recurrent 15q24 microdeletion syndrome AJ Sharp, RR Selzer, JA Veltman, S Gimelli, G Gimelli, P Striano, ... Human molecular genetics 16 (5), 567-572, 2007 | 201 | 2007 |
