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Andrew Sharp, Ph.D. - Publications

Affiliations: 
Genome Sciences University of Washington, Seattle, Seattle, WA 
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57 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2024 Manigbas CA, Jadhav B, Garg P, Shadrina M, Lee W, Altman G, Martin-Trujillo A, Sharp AJ. A phenome-wide association study of tandem repeat variation in 168,554 individuals from the UK Biobank. Nature Communications. 15: 10521. PMID 39627187 DOI: 10.1038/s41467-024-54678-0  0.307
2024 Manigbas CA, Jadhav B, Garg P, Shadrina M, Lee W, Martin-Trujillo A, Sharp AJ. A phenome-wide association study of tandem repeat variation in 168,554 individuals from the UK Biobank. Medrxiv : the Preprint Server For Health Sciences. PMID 38343850 DOI: 10.1101/2024.01.22.24301630  0.318
2023 Jain N, Richter F, Adzhubei I, Sharp AJ, Gelb BD. Small open reading frames: a comparative genetics approach to validation. Bmc Genomics. 24: 226. PMID 37127568 DOI: 10.1186/s12864-023-09311-7  0.31
2022 Martin-Trujillo A, Garg P, Patel N, Jadhav B, Sharp AJ. Genome-wide evaluation of the effect of short tandem repeat variation on local DNA methylation. Genome Research. PMID 36577521 DOI: 10.1101/gr.277057.122  0.369
2022 Garg P, Jadhav B, Lee W, Rodriguez OL, Martin-Trujillo A, Sharp AJ. A phenome-wide association study identifies effects of copy-number variation of VNTRs and multicopy genes on multiple human traits. American Journal of Human Genetics. 109: 1065-1076. PMID 35609568 DOI: 10.1016/j.ajhg.2022.04.016  0.341
2021 Garg P, Martin-Trujillo A, Rodriguez OL, Gies SJ, Hadelia E, Jadhav B, Jain M, Paten B, Sharp AJ. Pervasive cis effects of variation in copy number of large tandem repeats on local DNA methylation and gene expression. American Journal of Human Genetics. PMID 33794196 DOI: 10.1016/j.ajhg.2021.03.016  0.349
2020 Rodriguez OL, Gibson WS, Parks T, Emery M, Powell J, Strahl M, Deikus G, Auckland K, Eichler EE, Marasco WA, Sebra R, Sharp AJ, Smith ML, Bashir A, Watson CT. A Novel Framework for Characterizing Genomic Haplotype Diversity in the Human Immunoglobulin Heavy Chain Locus. Frontiers in Immunology. 11: 2136. PMID 33072076 DOI: 10.3389/fimmu.2020.02136  0.506
2020 Garg P, Jadhav B, Rodriguez OL, Patel N, Martin-Trujillo A, Jain M, Metsu S, Olsen H, Paten B, Ritz B, Kooy RF, Gecz J, Sharp AJ. A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions. American Journal of Human Genetics. PMID 32937144 DOI: 10.1016/J.Ajhg.2020.08.019  0.362
2018 Manheimer KB, Patel N, Richter F, Gorham J, Tai AC, Homsy J, Boskovski MT, Parfenov M, Goldmuntz E, Chung WK, Brueckner M, Tristani-Firouzi M, Srivastava D, Seidman JG, Seidman CE, ... ... Sharp AJ, et al. Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors. Human Mutation. PMID 29527824 DOI: 10.1002/Humu.23419  0.367
2017 Kuderna LFK, Tomlinson C, Hillier LW, Tran A, Fiddes I, Armstrong J, Laayouni H, Gordon D, Huddleston J, Perez RG, Povolotskaya I, Armero AS, Garrido JG, Ho D, Ribeca P, ... ... Sharp AJ, et al. A 3-way hybrid approach to generate a new high quality chimpanzee reference genome (Pan_tro_3.0). Gigascience. PMID 29092041 DOI: 10.1093/Gigascience/Gix098  0.634
2016 Joshi RS, Garg P, Zaitlen N, Lappalainen T, Watson CT, Azam N, Ho D, Li X, Antonarakis SE, Brunner HG, Buiting K, Cheung SW, Coffee B, Eggermann T, Francis D, ... ... Sharp AJ, et al. DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome. American Journal of Human Genetics. PMID 27569549 DOI: 10.1016/J.Ajhg.2016.06.032  0.33
2015 Hernando-Herraez I, Garcia-Perez R, Sharp AJ, Marques-Bonet T. DNA Methylation: Insights into Human Evolution. Plos Genetics. 11: e1005661. PMID 26658498 DOI: 10.1371/Journal.Pgen.1005661  0.516
2015 Gymrek M, Willems T, Guilmatre A, Zeng H, Markus B, Georgiev S, Daly MJ, Price AL, Pritchard JK, Sharp AJ, Erlich Y. Abundant contribution of short tandem repeats to gene expression variation in humans. Nature Genetics. PMID 26642241 DOI: 10.1038/Ng.3461  0.377
2015 Forni D, Martin D, Abujaber R, Sharp AJ, Sironi M, Hollox EJ. Determining multiallelic complex copy number and sequence variation from high coverage exome sequencing data. Bmc Genomics. 16: 891. PMID 26526070 DOI: 10.1186/s12864-015-2123-y  0.323
2015 Bilgin Sonay T, Carvalho T, Robinson MD, Greminger MP, Krützen M, Comas D, Highnam G, Mittelman D, Sharp A, Marques-Bonet T, Wagner A. Tandem repeat variation in human and great ape populations and its impact on gene expression divergence. Genome Research. PMID 26290536 DOI: 10.1101/Gr.190868.115  0.556
2015 Hernando-Herraez I, Heyn H, Fernandez-Callejo M, Vidal E, Fernandez-Bellon H, Prado-Martinez J, Sharp AJ, Esteller M, Marques-Bonet T. The interplay between DNA methylation and sequence divergence in recent human evolution. Nucleic Acids Research. 43: 8204-14. PMID 26170231 DOI: 10.1093/Nar/Gkv693  0.524
2015 Krasnec KV, Sharp AR, Williams TL, Miller RD. The opossum MHC genomic region revisited. Immunogenetics. 67: 259-64. PMID 25737310 DOI: 10.1007/s00251-015-0826-5  0.311
2014 Brahmachary M, Guilmatre A, Quilez J, Hasson D, Borel C, Warburton P, Sharp AJ. Digital genotyping of macrosatellites and multicopy genes reveals novel biological functions associated with copy number variation of large tandem repeats. Plos Genetics. 10: e1004418. PMID 24945355 DOI: 10.1371/journal.pgen.1004418  0.399
2014 Watson CT, Marques-Bonet T, Sharp AJ, Mefford HC. The genetics of microdeletion and microduplication syndromes: an update. Annual Review of Genomics and Human Genetics. 15: 215-44. PMID 24773319 DOI: 10.1146/Annurev-Genom-091212-153408  0.716
2014 Garg P, Ludwig KU, Böhmer AC, Rubini M, Steegers-Theunissen R, Mossey PA, Mangold E, Sharp AJ. Genome-wide analysis of parent-of-origin effects in non-syndromic orofacial clefts. European Journal of Human Genetics : Ejhg. 22: 822-30. PMID 24169523 DOI: 10.1038/ejhg.2013.235  0.315
2014 Tyson C, Sharp AJ, Hrynchak M, Yong SL, Hollox EJ, Warburton P, Barber JC. Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2. European Journal of Human Genetics : Ejhg. 22: 458-63. PMID 24045839 DOI: 10.1038/ejhg.2013.185  0.413
2013 Hernando-Herraez I, Prado-Martinez J, Garg P, Fernandez-Callejo M, Heyn H, Hvilsom C, Navarro A, Esteller M, Sharp AJ, Marques-Bonet T. Dynamics of DNA methylation in recent human and great ape evolution. Plos Genetics. 9: e1003763. PMID 24039605 DOI: 10.1371/Journal.Pgen.1003763  0.538
2013 Carey AS, Liang L, Edwards J, Brandt T, Mei H, Sharp AJ, Hsu DT, Newburger JW, Ohye RG, Chung WK, Russell MW, Rosenfeld JA, Shaffer LG, Parides MK, Edelmann L, et al. Effect of copy number variants on outcomes for infants with single ventricle heart defects. Circulation. Cardiovascular Genetics. 6: 444-51. PMID 24021551 DOI: 10.1161/Circgenetics.113.000189  0.313
2013 Sailani MR, Makrythanasis P, Valsesia A, Santoni FA, Deutsch S, Popadin K, Borel C, Migliavacca E, Sharp AJ, Duriaux Sail G, Falconnet E, Rabionet K, Serra-Juhé C, Vicari S, Laux D, et al. The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome. Genome Research. 23: 1410-21. PMID 23783273 DOI: 10.1101/Gr.147991.112  0.36
2012 Sharp AJ. Whole genome methylation profiling by immunoprecipitation of methylated DNA. Methods in Molecular Biology (Clifton, N.J.). 925: 69-78. PMID 22907491 DOI: 10.1007/978-1-62703-011-3_5  0.33
2012 Borel C, Cheung F, Stewart H, Koolen DA, Phillips C, Thomas NS, Jacobs PA, Eliez S, Sharp AJ. Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction. Human Genetics. 131: 1519-24. PMID 22643917 DOI: 10.1007/S00439-012-1180-4  0.39
2012 Radhakrishna U, Nath SK, McElreavey K, Ratnamala U, Sun C, Maiti AK, Gagnebin M, Béna F, Newkirk HL, Sharp AJ, Everman DB, Murray JC, Schwartz CE, Antonarakis SE, Butler MG. Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele. Journal of Medical Genetics. 49: 270-6. PMID 22499347 DOI: 10.1136/jmedgenet-2012-100826  0.42
2012 Guilmatre A, Sharp AJ. Parent of origin effects. Clinical Genetics. 81: 201-9. PMID 21933173 DOI: 10.1111/J.1399-0004.2011.01790.X  0.396
2011 Duchon A, Raveau M, Chevalier C, Nalesso V, Sharp AJ, Herault Y. Identification of the translocation breakpoints in the Ts65Dn and Ts1Cje mouse lines: relevance for modeling Down syndrome. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 22: 674-84. PMID 21953411 DOI: 10.1007/s00335-011-9356-0  0.333
2011 Duchon A, Pothion S, Brault V, Sharp AJ, Tybulewicz VL, Fisher EM, Herault Y. The telomeric part of the human chromosome 21 from Cstb to Prmt2 is not necessary for the locomotor and short-term memory deficits observed in the Tc1 mouse model of Down syndrome. Behavioural Brain Research. 217: 271-81. PMID 21047530 DOI: 10.1016/J.Bbr.2010.10.023  0.358
2010 Sharp AJ, Migliavacca E, Dupre Y, Stathaki E, Sailani MR, Baumer A, Schinzel A, Mackay DJ, Robinson DO, Cobellis G, Cobellis L, Brunner HG, Steiner B, Antonarakis SE. Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15. Genome Research. 20: 1271-8. PMID 20631049 DOI: 10.1101/Gr.108597.110  0.367
2010 Béna F, Gimelli S, Migliavacca E, Brun-Druc N, Buiting K, Antonarakis SE, Sharp AJ. A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats. Human Molecular Genetics. 19: 1967-73. PMID 20179077 DOI: 10.1093/hmg/ddq075  0.434
2009 Nikolaev SI, Iseli C, Sharp AJ, Robyr D, Rougemont J, Gehrig C, Farinelli L, Antonarakis SE. Detection of genomic variation by selection of a 9 mb DNA region and high throughput sequencing. Plos One. 4: e6659. PMID 19684856 DOI: 10.1371/journal.pone.0006659  0.361
2009 van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M, Stewart H, Connell LE, Ounap K, Lachlan K, Castle B, et al. Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. Journal of Medical Genetics. 46: 511-23. PMID 19372089 DOI: 10.1136/Jmg.2008.063412  0.674
2009 Beckmann JS, Sharp AJ, Antonarakis SE. CNVs and genetic medicine (excitement and consequences of a rediscovery) Cytogenetic and Genome Research. 123: 7-16. PMID 19287134 DOI: 10.1159/000184687  0.366
2009 Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, Muhle H, de Kovel C, Baker C, von Spiczak S, Kron KL, Steinich I, Kleefuss-Lie AA, Leu C, Gaus V, et al. 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nature Genetics. 41: 160-2. PMID 19136953 DOI: 10.1038/ng.292  0.638
2009 Sharp AJ. Emerging themes and new challenges in defining the role of structural variation in human disease. Human Mutation. 30: 135-44. PMID 18837009 DOI: 10.1002/humu.20843  0.39
2009 Hannes FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, Fryns JP, Devriendt K, Van Buggenhout G, Vogels A, Stewart H, Hennekam RC, Cooper GM, Regan R, Knight SJ, et al. 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. Journal of Medical Genetics. 46: 223-32. PMID 18550696 DOI: 10.1136/jmg.2007.055202  0.74
2008 Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. The New England Journal of Medicine. 359: 1685-99. PMID 18784092 DOI: 10.1056/Nejmoa0805384  0.73
2008 Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destrée A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, et al. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. Journal of Medical Genetics. 45: 710-20. PMID 18628315 DOI: 10.1136/Jmg.2008.058701  0.608
2008 Martin J, Knight SJ, Sharp AJ, Eichler EE, Hurst J, Kini U. Potocki-Lupski syndrome mimicking a connective tissue disorder. Clinical Dysmorphology. 17: 211-3. PMID 18541972 DOI: 10.1097/MCD.0b013e328303b9c2  0.356
2008 Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, Schroer RJ, Novara F, De Gregori M, Ciccone R, Broomer A, Casuga I, Wang Y, Xiao C, Barbacioru C, et al. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nature Genetics. 40: 322-8. PMID 18278044 DOI: 10.1038/Ng.93  0.72
2007 Mefford HC, Clauin S, Sharp AJ, Moller RS, Ullmann R, Kapur R, Pinkel D, Cooper GM, Ventura M, Ropers HH, Tommerup N, Eichler EE, Bellanne-Chantelot C. Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. American Journal of Human Genetics. 81: 1057-69. PMID 17924346 DOI: 10.1086/522591  0.704
2007 Sharp AJ, Itsara A, Cheng Z, Alkan C, Schwartz S, Eichler EE. Optimal design of oligonucleotide microarrays for measurement of DNA copy-number. Human Molecular Genetics. 16: 2770-9. PMID 17725982 DOI: 10.1093/Hmg/Ddm234  0.743
2007 Sharp AJ, Selzer RR, Veltman JA, Gimelli S, Gimelli G, Striano P, Coppola A, Regan R, Price SM, Knoers NV, Eis PS, Brunner HG, Hennekam RC, Knight SJ, de Vries BB, et al. Characterization of a recurrent 15q24 microdeletion syndrome. Human Molecular Genetics. 16: 567-72. PMID 17360722 DOI: 10.1093/Hmg/Ddm016  0.591
2006 Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, Stewart H, Price SM, Blair E, Hennekam RC, Fitzpatrick CA, Segraves R, Richmond TA, Guiver C, Albertson DG, et al. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nature Genetics. 38: 1038-42. PMID 16906162 DOI: 10.1038/Ng1862  0.612
2006 Locke DP, Sharp AJ, McCarroll SA, McGrath SD, Newman TL, Cheng Z, Schwartz S, Albertson DG, Pinkel D, Altshuler DM, Eichler EE. Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. American Journal of Human Genetics. 79: 275-90. PMID 16826518 DOI: 10.1086/505653  0.732
2006 Sharp AJ, Cheng Z, Eichler EE. Structural variation of the human genome. Annual Review of Genomics and Human Genetics. 7: 407-42. PMID 16780417 DOI: 10.1146/annurev.genom.7.080505.115618  0.517
2006 Sharp A. Revealing the hidden structure of our genome. Nature Methods. 3: 427-8. PMID 16721375 DOI: 10.1038/Nmeth0606-427  0.383
2006 Newman TL, Rieder MJ, Morrison VA, Sharp AJ, Smith JD, Sprague LJ, Kaul R, Carlson CS, Olson MV, Nickerson DA, Eichler EE. High-throughput genotyping of intermediate-size structural variation. Human Molecular Genetics. 15: 1159-67. PMID 16497726 DOI: 10.1093/Hmg/Ddl031  0.59
2005 Sharp AJ, Locke DP, McGrath SD, Cheng Z, Bailey JA, Vallente RU, Pertz LM, Clark RA, Schwartz S, Segraves R, Oseroff VV, Albertson DG, Pinkel D, Eichler EE. Segmental duplications and copy-number variation in the human genome. American Journal of Human Genetics. 77: 78-88. PMID 15918152 DOI: 10.1086/431652  0.77
2005 Tuzun E, Sharp AJ, Bailey JA, Kaul R, Morrison VA, Pertz LM, Haugen E, Hayden H, Albertson D, Pinkel D, Olson MV, Eichler EE. Fine-scale structural variation of the human genome. Nature Genetics. 37: 727-32. PMID 15895083 DOI: 10.1038/Ng1562  0.629
2003 Sharp A, Hurst J. Somatic instability of the androgen receptor CAG repeat in a normal female. American Journal of Medical Genetics. Part A. 117: 161-3. PMID 12567414 DOI: 10.1002/Ajmg.A.10897  0.412
2001 Sharp A, Moore G, Eggermann T. Evidence from skewed X inactivation for trisomy mosaicism in Silver-Russell syndrome European Journal of Human Genetics. 9: 887-891. PMID 11840189 DOI: 10.1038/Sj.Ejhg.5200740  0.406
2001 Sharp A, Robinson DO, Jacobs P. Absence of correlation between late-replication and spreading of X inactivation in an X;autosome translocation Human Genetics. 109: 295-302. PMID 11702210 DOI: 10.1007/S004390100578  0.409
1999 Joyce CA, Sharp A, Walker JM, Bullman H, Temple IK. Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome. Human Genetics. 105: 273-80. PMID 10987657 DOI: 10.1007/S004390051101  0.415
1998 James RS, Coppin B, Dalton P, Dennis NR, Mitchell C, Sharp AJ, Skuse DH, Thomas NS, Jacobs PA. A study of females with deletions of the short arm of the X chromosome. Human Genetics. 102: 507-16. PMID 9654198 DOI: 10.1007/s004390050733  0.319
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