| Year |
Citation |
Score |
| 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 |
0.319 |
|
| 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 |
0.312 |
|
| 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 |
0.372 |
|
| 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 |
0.343 |
|
| 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 |
0.351 |
|
| 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 |
0.511 |
|
| 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 |
0.364 |
|
| 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 |
0.369 |
|
| 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 |
0.639 |
|
| 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 |
0.332 |
|
| 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 |
0.52 |
|
| 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 |
0.38 |
|
| 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 |
0.325 |
|
| 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 |
0.561 |
|
| 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 |
0.528 |
|
| 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 |
0.313 |
|
| 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 |
0.402 |
|
| 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 |
0.72 |
|
| 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 |
0.316 |
|
| 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 |
0.416 |
|
| 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 |
0.542 |
|
| 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 |
0.315 |
|
| 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 |
0.362 |
|
| 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 |
0.332 |
|
| 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 |
0.393 |
|
| 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 |
0.423 |
|
| 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 |
0.398 |
|
| 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 |
0.335 |
|
| 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 |
0.361 |
|
| 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 |
0.369 |
|
| 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 |
0.437 |
|
| 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 |
0.364 |
|
| 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 |
0.679 |
|
| 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 |
0.369 |
|
| 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 |
0.643 |
|
| 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 |
0.392 |
|
| 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 |
0.744 |
|
| 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 |
0.731 |
|
| 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 |
0.613 |
|
| 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 |
0.361 |
|
| 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 |
0.723 |
|
| 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 |
0.708 |
|
| 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 |
0.744 |
|
| 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 |
0.596 |
|
| 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 |
0.618 |
|
| 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 |
0.734 |
|
| 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 |
0.523 |
|
| 2006 |
Sharp A. Revealing the hidden structure of our genome. Nature Methods. 3: 427-8. PMID 16721375 DOI: 10.1038/Nmeth0606-427 |
0.385 |
|
| 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 |
0.593 |
|
| 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 |
0.772 |
|
| 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 |
0.635 |
|
| 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 |
0.413 |
|
| 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 |
0.408 |
|
| 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 |
0.411 |
|
| 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 |
0.416 |
|
| 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 |
0.321 |
|
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