Andrew Sharp, Ph.D. - Publications

Affiliations: 
Genome Sciences University of Washington, Seattle, Seattle, WA 

88 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
2020 Martin-Trujillo A, Patel N, Richter F, Jadhav B, Garg P, Morton SU, McKean DM, DePalma SR, Goldmuntz E, Gruber D, Kim R, Newburger JW, Porter GA, Giardini A, Bernstein D, ... ... Sharp AJ, et al. Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles. Plos Genetics. 16: e1009189. PMID 33216750 DOI: 10.1371/journal.pgen.1009189  0.56
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  0.56
2020 Breen MS, Garg P, Tang L, Mendonca D, Levy T, Barbosa M, Arnett AB, Kurtz-Nelson E, Agolini E, Battaglia A, Chiocchetti AG, Freitag CM, Garcia-Alcon A, Grammatico P, Hertz-Picciotto I, ... ... Sharp AJ, et al. Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype. American Journal of Human Genetics. PMID 32758449 DOI: 10.1016/j.ajhg.2020.07.003  0.56
2020 Seiden AH, Richter F, Patel N, Rodriguez OL, Deikus G, Shah H, Smith M, Roberts A, King EC, Sebra RP, Sharp AJ, Gelb BD. Elucidation of de novo small insertion/deletion biology with parent-of-origin phasing. Human Mutation. PMID 31898844 DOI: 10.1002/humu.23971  0.32
2019 Do AN, Watson CT, Cohain AT, Griffin RS, Grishin A, Wood RA, Burks WA, Jones SM, Scurlock A, Leung DYM, Sampson HA, Sicherer SH, Sharp AJ, Schadt EE, Bunyavanich S. Dual transcriptomic and epigenomic study of reaction severity in peanut allergic children. The Journal of Allergy and Clinical Immunology. PMID 31838046 DOI: 10.1016/j.jaci.2019.10.040  0.4
2019 Choudhury A, Garg S, Smith J, Sharp A, Nabais de Araujo S, Chauhan A, Patel N, Wrigley B, Chattopadhyay S, Zaman AG. Prospective evaluation of an ultrathin strut biodegradable polymer-coated sirolimus-eluting stent: 12 months' results from the S-FLEX UK registry. Bmj Open. 9: e026578. PMID 31604782 DOI: 10.1136/bmjopen-2018-026578  0.32
2019 Richter F, Hoffman GE, Manheimer KB, Patel N, Sharp AJ, McKean D, Morton SU, DePalma S, Gorham J, Kitaygorodksy A, Porter GA, Giardini A, Shen Y, Chung WK, Seidman JG, et al. ORE Identifies Extreme Expression Effects Enriched for Rare Variants. Bioinformatics (Oxford, England). PMID 30903145 DOI: 10.1093/bioinformatics/btz202  0.32
2019 Garg P, Sharp AJ. Screening for rare epigenetic variations in autism and schizophrenia. Human Mutation. PMID 30900359 DOI: 10.1002/humu.23740  0.56
2019 Ntranos A, Ntranos V, Bonnefil V, Liu J, Kim-Schulze S, He Y, Zhu Y, Brandstadter R, Watson CT, Sharp AJ, Katz Sand I, Casaccia P. Fumarates target the metabolic-epigenetic interplay of brain-homing T cells in multiple sclerosis. Brain : a Journal of Neurology. PMID 30698680 DOI: 10.1093/brain/awy344  0.4
2018 Garg P, Joshi RS, Watson C, Sharp AJ. A survey of inter-individual variation in DNA methylation identifies environmentally responsive co-regulated networks of epigenetic variation in the human genome. Plos Genetics. 14: e1007707. PMID 30273333 DOI: 10.1371/journal.pgen.1007707  0.56
2018 Barbosa M, Joshi RS, Garg P, Martin-Trujillo A, Patel N, Jadhav B, Watson CT, Gibson W, Chetnik K, Tessereau C, Mei H, De Rubeis S, Reichert J, Lopes F, Vissers LELM, ... ... Sharp AJ, et al. Identification of rare de novo epigenetic variations in congenital disorders. Nature Communications. 9: 2064. PMID 29802345 DOI: 10.1038/s41467-018-04540-x  0.56
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  0.32
2017 Watson CT, Cohain AT, Griffin RS, Chun Y, Grishin A, Hacyznska H, Hoffman GE, Beckmann ND, Shah H, Dawson P, Henning A, Wood R, Burks AW, Jones SM, Leung DYM, ... ... Sharp AJ, et al. Integrative transcriptomic analysis reveals key drivers of acute peanut allergic reactions. Nature Communications. 8: 1943. PMID 29203772 DOI: 10.1038/s41467-017-02188-7  0.4
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  0.56
2016 McKean DM, Homsy J, Wakimoto H, Patel N, Gorham J, DePalma SR, Ware JS, Zaidi S, Ma W, Patel N, Lifton RP, Chung WK, Kim R, Shen Y, Brueckner M, ... ... Sharp AJ, et al. Loss of RNA expression and allele-specific expression associated with congenital heart disease. Nature Communications. 7: 12824. PMID 27670201 DOI: 10.1038/ncomms12824  0.32
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  0.56
2016 Peter CJ, Fischer LK, Kundakovic M, Garg P, Jakovcevski M, Dincer A, Amaral AC, Ginns EI, Galdzicka M, Bryce CP, Ratner C, Waber DP, Mokler D, Medford G, Champagne FA, ... ... Sharp AJ, et al. DNA Methylation Signatures of Early Childhood Malnutrition Associated With Impairments in Attention and Cognition. Biological Psychiatry. PMID 27184921 DOI: 10.1016/j.biopsych.2016.03.2100  0.56
2016 Quilez J, Guilmatre A, Garg P, Highnam G, Gymrek M, Erlich Y, Joshi RS, Mittelman D, Sharp AJ. Polymorphic tandem repeats within gene promoters act as modifiers of gene expression and DNA methylation in humans. Nucleic Acids Research. PMID 27060133 DOI: 10.1093/nar/gkw219  0.56
2016 Watson CT, Roussos P, Garg P, Ho DJ, Azam N, Katsel PL, Haroutunian V, Sharp AJ. Genome-wide DNA methylation profiling in the superior temporal gyrus reveals epigenetic signatures associated with Alzheimer's disease. Genome Medicine. 8: 5. PMID 26803900 DOI: 10.1186/s13073-015-0258-8  0.56
2016 Watson CT, Roussos P, Garg P, Ho DJ, Azam N, Katsel PL, Haroutunian V, Sharp AJ. Genome-wide12 DNA methylation profiling in the superior temporal gyrus reveals epigenetic signatures associated with Alzheimer's disease. Genome Medicine. 8: 5. PMID 26787419 DOI: 10.1186/s13073-015-0258-8  0.56
2015 Sharp AJ, Akbarian S. Back to the past in schizophrenia genomics. Nature Neuroscience. 19: 1-2. PMID 26713739 DOI: 10.1038/nn.4203  0.56
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  0.56
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  0.52
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  0.56
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  0.52
2015 Watson CT, Szutorisz H, Garg P, Martin Q, Landry JA, Sharp AJ, Hurd YL. Genome-Wide DNA Methylation Profiling Reveals Epigenetic Changes in the Rat Nucleus Accumbens Associated with Cross-Generational Effects of Adolescent THC Exposure. Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology. PMID 26044905 DOI: 10.1038/npp.2015.155  0.56
2015 Brault V, Duchon A, Romestaing C, Sahun I, Pothion S, Karout M, Borel C, Dembele D, Bizot JC, Messaddeq N, Sharp AJ, Roussel D, Antonarakis SE, Dierssen M, Hérault Y. Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region. Plos Genetics. 11: e1005062. PMID 25803843 DOI: 10.1371/journal.pgen.1005062  0.56
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  0.56
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  0.56
2014 Huynh JL, Garg P, Thin TH, Yoo S, Dutta R, Trapp BD, Haroutunian V, Zhu J, Donovan MJ, Sharp AJ, Casaccia P. Epigenome-wide differences in pathology-free regions of multiple sclerosis-affected brains. Nature Neuroscience. 17: 121-30. PMID 24270187 DOI: 10.1038/nn.3588  0.56
2014 Bala Tannan N, Brahmachary M, Garg P, Borel C, Alnefaie R, Watson CT, Thomas NS, Sharp AJ. DNA methylation profiling in X;autosome translocations supports a role for L1 repeats in the spread of X chromosome inactivation. Human Molecular Genetics. 23: 1224-36. PMID 24186870 DOI: 10.1093/hmg/ddt553  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
2013 Guilmatre A, Highnam G, Borel C, Mittelman D, Sharp AJ. Rapid multiplexed genotyping of simple tandem repeats using capture and high-throughput sequencing. Human Mutation. 34: 1304-11. PMID 23696428 DOI: 10.1002/humu.22359  0.56
2013 Watson CT, Garg P, Sharp AJ. Comment on "genomic hypomethylation in the human germline associates with selective structural mutability in the human genome". Plos Genetics. 9: e1003332. PMID 23468658 DOI: 10.1371/journal.pgen.1003332  0.56
2012 Garg P, Borel C, Sharp AJ. Detection of parent-of-origin specific expression quantitative trait loci by cis-association analysis of gene expression in trios. Plos One. 7: e41695. PMID 22912676 DOI: 10.1371/journal.pone.0041695  0.56
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  0.56
2012 Raveau M, Lignon JM, Nalesso V, Duchon A, Groner Y, Sharp AJ, Dembele D, Brault V, Hérault Y. The App-Runx1 region is critical for birth defects and electrocardiographic dysfunctions observed in a Down syndrome mouse model. Plos Genetics. 8: e1002724. PMID 22693452 DOI: 10.1371/journal.pgen.1002724  0.56
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  0.56
2012 Borel C, Migliavacca E, Letourneau A, Gagnebin M, Béna F, Sailani MR, Dermitzakis ET, Sharp AJ, Antonarakis SE. Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB. Human Mutation. 33: 1302-9. PMID 22573514 DOI: 10.1002/humu.22115  0.56
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  0.56
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  0.56
2012 Carvill G, Sharp A. Genome-wide DNA methylation analysis in patients with familial ATR-X mental retardation syndrome Epigenomics: From Chromatin Biology to Therapeutics. 434-446. DOI: 10.1017/CBO9780511777271.037  0.56
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  0.56
2011 Sharp AJ, Stathaki E, Migliavacca E, Brahmachary M, Montgomery SB, Dupre Y, Antonarakis SE. DNA methylation profiles of human active and inactive X chromosomes. Genome Research. 21: 1592-600. PMID 21862626 DOI: 10.1101/gr.112680.110  0.56
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  0.56
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  0.56
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  0.56
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  0.56
2009 Sharp AJ. The 2009 European Society of Human Genetics Meeting: novel technologies driving change. Genome Medicine. 1: 67. PMID 19591664 DOI: 10.1186/gm67  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
2009 Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJL. (Journal of Medical Genetics (2008) 45 (710-720)) Journal of Medical Genetics. 46: 576. DOI: 10.1136/jmg.2008.058701corr1  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
2006 Sharp A. Revealing the hidden structure of our genome. Nature Methods. 3: 427-8. PMID 16721375 DOI: 10.1038/nmeth0606-427  0.56
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  0.56
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  0.56
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  0.56
2005 Sharp A, Kusz K, Jaruzelska J, Tapper W, Szarras-Czapnik M, Wolski J, Jacobs P. Variability of sexual phenotype in 46,XX(SRY+) patients: The influence of spreading X inactivation versus position effects Journal of Medical Genetics. 42: 420-427. PMID 15863672 DOI: 10.1136/jmg.2004.022053  0.56
2004 Sharp A, Pichert G, Lucassen A, Eccles D. RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1. Human Mutation. 24: 272. PMID 15300854 DOI: 10.1002/humu.9267  0.56
2004 Sharp A, Kusz K, Jaruzelska J, Szarras-Czapnik M, Wolski J, Jacobs P. Familial X/Y translocations associated with variable sexual phenotype Journal of Medical Genetics. 41: 440-444. PMID 15173229  0.56
2003 Mononen T, Sharp A, Laakso M, Meltoranta RL, Valve-Dietz AK, Heinonen K. Partial trisomy 10q with mild phenotype caused by an unbalanced X;10 translocation Journal of Medical Genetics. 40: e61. PMID 12746415  0.56
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  0.56
2002 Sharp AJ, Spotswood HT, Robinson DO, Turner BM, Jacobs PA. Molecular and cytogenetic analysis of the spreading of X inactivation in X;autosome translocations. Human Molecular Genetics. 11: 3145-56. PMID 12444099  0.56
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  0.56
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  0.56
2001 Thomas NS, Ennis S, Sharp AJ, Durkie M, Hassold TJ, Collins AR, Jacobs PA. Maternal sex chromosome non-disjunction: Evidence for X chromosome-specific risk factors Human Molecular Genetics. 10: 243-250. PMID 11159943  0.56
2001 Mergenthaler S, Sharp A, Ranke MB, Kalscheuer VM, Wollmann HA, Eggermann T. Gene dosage analysis in Silver-Russell syndrome: Use of quantitative competitive PCR and dual-color FISH to estimate the frequency of duplications in 7p11.2-p13 Genetic Testing. 5: 261-266. DOI: 10.1089/10906570152742335  0.56
2000 Sharp A, Robinson D, Jacobs P. Age- and tissue-specific variation of X chromosome inactivation ratios in normal women Human Genetics. 107: 343-349. PMID 11129333  0.56
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  0.56
1999 Thomas NS, Sharp AJ, Browne CE, Skuse D, Hardie C, Dennis NR. Xp deletions associated with autism in three females Human Genetics. 104: 43-48. PMID 10071191 DOI: 10.1007/s004390050908  0.56
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  0.56
1997 James RS, Sharp AJ, Cockwell AE, Coppin B, Jacobs PA. Evidence for a cryptic 46,XX cell line in a 45,X/46,X,psu idic(Xq) patient with normal reproduction Journal of Medical Genetics. 34: 1030-1032. PMID 9429151  0.56
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