|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
|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
|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
|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
|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
|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
|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
|Age-and tissue-specific variation of X chromosome inactivation ratios in normal women|
A Sharp, D Robinson, P Jacobs
Human genetics 107 (4), 343-349, 2000
|Structural variation of the human genome|
AJ Sharp, Z Cheng, EE Eichler
Annu. Rev. Genomics Hum. Genet. 7, 407-442, 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
|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
|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
|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
|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
|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
|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
|Xp deletions associated with autism in three females|
NS Thomas, AJ Sharp, CE Browne, D Skuse, C Hardie, NR Dennis
Human genetics 104 (1), 43-48, 1999
|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 (11), 674-684, 2011
|Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome|
CA Joyce, A Sharp, JM Walker, H Bullman, IK Temple
Human genetics 105 (3), 273-280, 1999
|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, 215-244, 2014