Rui Chen - Publications

Stanford University, Palo Alto, CA 

144 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 Wang J, Liu H, Bertrand RE, Sarrion-Perdigones A, Gonzalez Y, Venken KJT, Chen R. A novel statistical method for interpreting the pathogenicity of rare variants. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32884132 DOI: 10.1038/S41436-020-00948-3  0.34
2020 Go YM, Zhang J, Fernandes J, Litwin C, Chen R, Wensel TG, Jones DP, Cai J, Chen Y. MTOR-initiated metabolic switch and degeneration in the retinal pigment epithelium. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. PMID 32721041 DOI: 10.1096/Fj.202000612R  0.309
2020 Cherry TJ, Yang MG, Harmin DA, Tao P, Timms AE, Bauwens M, Allikmets R, Jones EM, Chen R, De Baere E, Greenberg ME. Mapping the -regulatory architecture of the human retina reveals noncoding genetic variation in disease. Proceedings of the National Academy of Sciences of the United States of America. PMID 32265282 DOI: 10.1073/Pnas.1922501117  0.332
2020 Devlin DJ, Agrawal-Zaneveld S, Nozawa K, Han X, Moye AR, Liang Q, Harnish JM, Matzuk MM, Chen R. Knockout of mouse receptor accessory protein 6 (REEP6) leads to sperm function and morphology defects. Biology of Reproduction. PMID 32101290 DOI: 10.1093/Biolre/Ioaa024  0.309
2020 Herndon N, Shelton J, Gerischer L, Ioannidis P, Ninova M, Dönitz J, Waterhouse RM, Liang C, Damm C, Siemanowski J, Kitzmann P, Ulrich J, Dippel S, Oberhofer G, Hu Y, ... ... Chen R, et al. Enhanced genome assembly and a new official gene set for Tribolium castaneum. Bmc Genomics. 21: 47. PMID 31937263 DOI: 10.1186/S12864-019-6394-6  0.37
2020 Dharmat R, Kim S, Li Y, Chen R. Single-Cell Capture, RNA-seq, and Transcriptome Analysis from the Neural Retina. Methods in Molecular Biology (Clifton, N.J.). 2092: 159-186. PMID 31786788 DOI: 10.1007/978-1-0716-0175-4_12  0.317
2019 Liang Q, Dharmat R, Owen L, Shakoor A, Li Y, Kim S, Vitale A, Kim I, Morgan D, Liang S, Wu N, Chen K, DeAngelis MM, Chen R. Single-nuclei RNA-seq on human retinal tissue provides improved transcriptome profiling. Nature Communications. 10: 5743. PMID 31848347 DOI: 10.1038/S41467-019-12917-9  0.315
2019 Gunasekara CJ, Scott CA, Laritsky E, Baker MS, MacKay H, Duryea JD, Kessler NJ, Hellenthal G, Wood AC, Hodges KR, Gandhi M, Hair AB, Silver MJ, Moore SE, Prentice AM, ... ... Chen R, et al. A genomic atlas of systemic interindividual epigenetic variation in humans. Genome Biology. 20: 105. PMID 31155008 DOI: 10.1186/S13059-019-1708-1  0.313
2019 Park YH, Snook JD, Ostrin EJ, Kim S, Chen R, Frankfort BJ. Transcriptomic profiles of retinal ganglion cells are defined by the magnitude of intraocular pressure elevation in adult mice. Scientific Reports. 9: 2594. PMID 30796289 DOI: 10.1038/S41598-019-39141-1  0.323
2019 Moshiri A, Chen R, Kim S, Harris RA, Li Y, Raveendran M, Davis S, Liang Q, Pomerantz O, Wang J, Garzel L, Cameron A, Yiu G, Stout JT, Huang Y, et al. A nonhuman primate model of inherited retinal disease. The Journal of Clinical Investigation. PMID 30667376 DOI: 10.1172/Jci123980  0.321
2019 Jeong M, Kim S, Li Y, Chen R, Lulla P, Goodell M. Single Cell Profiling of DNMT3A-Mutant Progenitors Reveals LY86 As a Novel Pre-Leukemia Marker and Potential Therapeutic Target Blood. 134: 2724-2724. DOI: 10.1182/Blood-2019-123597  0.346
2018 Wang J, Zhao L, Wang X, Chen Y, Xu M, Soens ZT, Ge Z, Wang PR, Wang F, Chen R. GRIPT: a novel case-control analysis method for Mendelian disease gene discovery. Genome Biology. 19: 203. PMID 30477545 DOI: 10.1186/S13059-018-1579-X  0.361
2018 Chen R, Xia L, Tu K, Duan M, Kukurba K, Li-Pook-Than J, Xie D, Snyder M. Longitudinal personal DNA methylome dynamics in a human with a chronic condition. Nature Medicine. PMID 30397358 DOI: 10.1038/S41591-018-0237-X  0.478
2018 Huang J, Fu J, Fu S, Yang L, Nie K, Duan C, Cheng J, Li Y, Lv H, Chen R, Liu L, Fu J. Diagnostic value of a combination of next-generation sequencing, chorioretinal imaging and metabolic analysis: lessons from a consanguineous Chinese family with gyrate atrophy of the choroid and retina stemming from a novel OAT variant. The British Journal of Ophthalmology. PMID 30366948 DOI: 10.1136/Bjophthalmol-2018-312347  0.351
2018 Fu J, Ma L, Cheng J, Yang L, Wei C, Fu S, Lv H, Chen R, Fu J. A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS-based genetic diagnosis. Journal of Cellular and Molecular Medicine. PMID 30160356 DOI: 10.1111/Jcmm.13841  0.367
2018 Zou X, Fu Q, Fang S, Li H, Ge Z, Yang L, Xu M, Sun Z, Li H, Li Y, Dong F, Chen R, Sui R. PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY. Retina (Philadelphia, Pa.). PMID 30134391 DOI: 10.1097/Iae.0000000000002242  0.31
2018 Zaneveld SA, Eblimit A, Liang Q, Bertrand R, Wu N, Liu H, Nguyen Q, Zaneveld J, Wang K, Li Y, Chen R. Gene Therapy Rescues Retinal Degeneration in Reep6 Mutant Mice. Human Gene Therapy. PMID 30101608 DOI: 10.1089/Hum.2018.078  0.311
2018 Zhang L, Sun Z, Zhao P, Huang L, Xu M, Yang Y, Chen X, Lu F, Zhang X, Wang H, Zhang S, Liu W, Jiang Z, Ma S, Chen R, et al. Whole exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa. Human Molecular Genetics. PMID 30085091 DOI: 10.1093/Hmg/Ddy281  0.355
2018 Li H, Jones EM, Li H, Yang L, Sun Z, Yuan Z, Chen R, Dong F, Sui R. Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants. Ophthalmic Genetics. 1-8. PMID 29952689 DOI: 10.1080/13816810.2018.1466337  0.332
2018 Dharmat R, Eblimit A, Robichaux MA, Zhang Z, Nguyen TT, Jung SY, He F, Jain A, Li Y, Qin J, Overbeek P, Roepman R, Mardon G, Wensel TG, Chen R. SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium. The Journal of Cell Biology. PMID 29899041 DOI: 10.1083/Jcb.201712117  0.33
2018 Eblimit A, Zaneveld SA, Liu W, Thomas K, Wang K, Li Y, Mardon G, Chen R. NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. Experimental Eye Research. PMID 29674119 DOI: 10.1016/J.Exer.2018.04.010  0.309
2018 Im H, Rao V, Sridhar K, Bentley J, Mishra T, Chen R, Hall J, Graber A, Zhang Y, Li X, Mias GI, Snyder MP, Greenberg PL. Distinct transcriptomic and exomic abnormalities within myelodysplastic syndrome marrow cells. Leukemia & Lymphoma. 1-11. PMID 29616851 DOI: 10.1080/10428194.2018.1452210  0.765
2018 Imani S, Cheng J, Shasaltaneh MD, Wei C, Yang L, Fu S, Zou H, Khan MA, Zhang X, Chen H, Zhang D, Duan C, Lv H, Li Y, Chen R, et al. Genetic identification and molecular modeling characterization reveal a novel PROM1 mutation in Stargardt4-like macular dystrophy. Oncotarget. 9: 122-141. PMID 29416601 DOI: 10.18632/Oncotarget.22343  0.359
2017 DuPont M, Jones EM, Xu M, Chen R. Investigating the disease association of USH2A p.C759F variant by leveraging large retinitis pigmentosa cohort data. Ophthalmic Genetics. 1-2. PMID 29283788 DOI: 10.1080/13816810.2017.1418388  0.338
2017 Imani S, Cheng J, Mobasher-Jannat A, Wei C, Fu S, Yang L, Jadidi K, Khosravi MH, Mohazzab-Torabi S, Shasaltaneh MD, Li Y, Chen R, Fu J. Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing. Journal of Cellular and Molecular Medicine. PMID 29193763 DOI: 10.1111/Jcmm.13454  0.347
2017 Porto FBO, Jones EM, Branch J, Soens ZT, Maia IM, Sena IFG, Sampaio SAM, Simões RT, Chen R. Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy. Genes. 8. PMID 29186038 DOI: 10.3390/Genes8120355  0.362
2017 Yuan Z, Li B, Xu M, Chang EY, Li H, Yang L, Wu S, Soens ZT, Li Y, Wong LC, Lewis RA, Sui R, Chen R. The phenotypic variability of HK1-associated retinal dystrophy. Scientific Reports. 7: 7051. PMID 28765615 DOI: 10.1038/S41598-017-07629-3  0.314
2017 Soens ZT, Branch J, Wu S, Yuan Z, Li Y, Li H, Wang K, Xu M, Rajan L, Motta FL, Simões RT, Lopez-Solache I, Ajlan R, Birch DG, Zhao P, ... ... Chen R, et al. Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants amongst exon-captured variants of uncertain significance. Human Mutation. PMID 28714225 DOI: 10.1002/Humu.23294  0.385
2017 Agrawal SA, Burgoyne T, Eblimit A, Bellingham J, Parfitt DA, Lane A, Nichols R, Asomugha C, Hayes MJ, Munro PM, Xu M, Wang K, Futter CE, Li Y, Chen R, et al. REEP6 Deficiency Leads to Retinal Degeneration through Disruption of ER Homeostasis and Protein Trafficking. Human Molecular Genetics. PMID 28475715 DOI: 10.1093/Hmg/Ddx149  0.314
2017 Xu M, Xie YA, Abouzeid H, Gordon CT, Fiorentino A, Sun Z, Lehman A, Osman IS, Dharmat R, Riveiro-Alvarez R, Bapst-Wicht L, Babino D, Arno G, Busetto V, Zhao L, ... ... Chen R, et al. Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. American Journal of Human Genetics. PMID 28285769 DOI: 10.1016/J.Ajhg.2017.02.008  0.343
2017 Chen Y, Zhao L, Wang Y, Cao M, Gelowani V, Xu M, Agrawal SA, Li Y, Daiger SP, Gibbs R, Wang F, Chen R. SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data. Bmc Bioinformatics. 18: 147. PMID 28253855 DOI: 10.1186/S12859-017-1566-3  0.368
2017 Keser V, Khan A, Siddiqui S, Lopez I, Ren H, Qamar R, Nadaf J, Majewski J, Chen R, Koenekoop RK. The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families. Investigative Ophthalmology & Visual Science. 58: 1028-1036. PMID 28192794 DOI: 10.1167/Iovs.16-20281  0.326
2017 Gui S, Rice AP, Chen R, Wu L, Liu J, Miao H. A scalable algorithm for structure identification of complex gene regulatory network from temporal expression data. Bmc Bioinformatics. 18: 74. PMID 28143596 DOI: 10.1186/S12859-017-1489-Z  0.316
2017 Takahashi S, Andreoletti G, Chen R, Munehira Y, Batra A, Afzal NA, Beattie RM, Bernstein JA, Ennis S, Snyder M. De novo and rare mutations in the HSPA1L heat shock gene associated with inflammatory bowel disease. Genome Medicine. 9: 8. PMID 28126021 DOI: 10.1186/S13073-016-0394-9  0.432
2017 Zhu L, Cheng J, Zhou B, Wei C, Yang W, Jiang D, Ijaz I, Tan X, Chen R, Fu J. Diagnosis for choroideremia in a large Chinese pedigree by next‑generation sequencing (NGS) and non‑invasive prenatal testing (NIPT). Molecular Medicine Reports. PMID 28098911 DOI: 10.3892/Mmr.2017.6119  0.32
2016 Xue C, Raveendran M, Harris RA, Fawcett GL, Liu X, White S, Dahdouli M, Rio Deiros D, Below JE, Salerno W, Cox L, Fan G, Ferguson B, Horvath J, Johnson Z, ... ... Chen R, et al. The population genomics of rhesus macaques (Macaca mulatta) based on whole-genome sequences. Genome Research. 26: 1651-1662. PMID 27934697 DOI: 10.1101/Gr.204255.116  0.369
2016 Arno G, Agrawal SA, Eblimit A, Bellingham J, Xu M, Wang F, Chakarova C, Parfitt DA, Lane A, Burgoyne T, Hull S, Carss KJ, Fiorentino A, Hayes MJ, Munro PM, ... ... Chen R, et al. Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. American Journal of Human Genetics. PMID 27889058 DOI: 10.1016/J.Ajhg.2016.10.008  0.356
2016 Ventura MJ, Wheaton D, Xu M, Birch D, Bowne SJ, Sullivan LS, Daiger SP, Whitney AE, Jones RO, Moser AB, Chen R, Wangler MF. Diagnosis of a mild peroxisomal phenotype with next-generation sequencing. Molecular Genetics and Metabolism Reports. 9: 75-78. PMID 27872819 DOI: 10.1016/J.Ymgmr.2016.10.006  0.309
2016 Fu Q, Xu M, Chen X, Sheng X, Yuan Z, Liu Y, Li H, Sun Z, Li H, Yang L, Wang K, Zhang F, Li Y, Zhao C, Sui R, ... Chen R, et al. CEP78 is mutated in a distinct type of Usher syndrome. Journal of Medical Genetics. PMID 27627988 DOI: 10.1136/Jmedgenet-2016-104166  0.317
2016 Li J, Tang J, Feng Y, Xu M, Chen R, Zou X, Sui R, Chang EY, Lewis RA, Zhang VW, Wang J, Wong LC. Improved Diagnosis of Inherited Retinal Dystrophies by High-Fidelity PCR of ORF15 followed by Next-Generation Sequencing. The Journal of Molecular Diagnostics : Jmd. PMID 27620828 DOI: 10.1016/J.Jmoldx.2016.06.007  0.375
2016 Breman AM, Chow JC, U'Ren L, Normand EA, Qdaisat S, Zhao L, Henke DM, Chen R, Shaw CA, Jackson L, Yang Y, Vossaert L, Needham RH, Chang EJ, Campton D, et al. Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing. Prenatal Diagnosis. PMID 27616633 DOI: 10.1097/01.Ogx.0000511968.79993.Bf  0.31
2016 Zhang Q, Xu M, Verriotto JD, Li Y, Wang H, Gan L, Lam BL, Chen R. Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands. Scientific Reports. 6: 32792. PMID 27596865 DOI: 10.1038/Srep32792  0.333
2016 Coppieters F, Ascari G, Dannhausen K, Nikopoulos K, Peelman F, Karlstetter M, Xu M, Brachet C, Meunier I, Tsilimbaris MK, Tsika C, Blazaki SV, Vergult S, Farinelli P, Van Laethem T, ... ... Chen R, et al. Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination. American Journal of Human Genetics. 99: 470-480. PMID 27486781 DOI: 10.1016/J.Ajhg.2016.06.017  0.325
2016 Jin M, Eblimit A, Pulikkathara M, Corr S, Chen R, Mardon G. Conditional knockout of retinal determination genes in differentiating cells in Drosophila. The Febs Journal. PMID 27257739 DOI: 10.1111/Febs.13772  0.345
2016 Jin M, Aibar S, Ge Z, Chen R, Aerts S, Mardon G. Identification of Novel Direct Targets of Drosophila Sine Oculis by Integration of Genome-wide Data Sets. Developmental Biology. PMID 27178668 DOI: 10.1016/J.Ydbio.2016.05.007  0.328
2016 Zhao L, Chen Y, Bajaj AO, Eblimit A, Xu M, Soens ZT, Wang F, Ge Z, Jung SY, He F, Li Y, Wensel TG, Qin J, Chen R. Integrative subcellular proteomic analysis allows accurate prediction of human disease causing genes. Genome Research. PMID 26912414 DOI: 10.1101/Gr.198911.115  0.372
2016 Xu M, Yamada T, Sun Z, Eblimit A, Lopez I, Wang F, Manya H, Xu S, Zhao L, Li Y, Kimchi A, Sharon D, Sui R, Endo T, Koenekoop RK, ... Chen R, et al. Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. Human Molecular Genetics. PMID 26908613 DOI: 10.1093/Hmg/Ddw022  0.324
2016 Tajiguli A, Xu M, Fu Q, Yiming R, Wang K, Li Y, Eblimit A, Sui R, Chen R, Aisa HA. Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity. Scientific Reports. 6: 21384. PMID 26856745 DOI: 10.1038/Srep21384  0.368
2016 Soens ZT, Li Y, Zhao L, Eblimit A, Dharmat R, Li Y, Chen Y, Naqeeb M, Fajardo N, Lopez I, Sun Z, Koenekoop RK, Chen R. Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26820066 DOI: 10.1038/Gim.2015.205  0.347
2015 Ge Z, Bowles K, Goetz K, Scholl HP, Wang F, Wang X, Xu S, Wang K, Wang H, Chen R. NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. Scientific Reports. 5: 18287. PMID 26667666 DOI: 10.1038/Srep18287  0.362
2015 Xu M, Eblimit A, Wang J, Li J, Wang F, Zhao L, Wang X, Xiao N, Li Y, Wong LC, Lewis RA, Chen R. ADIPOR1 is Mutated in Syndromic Retinitis Pigmentosa. Human Mutation. PMID 26662040 DOI: 10.1002/Humu.22940  0.352
2015 Simakov O, Kawashima T, Marlétaz F, Jenkins J, Koyanagi R, Mitros T, Hisata K, Bredeson J, Shoguchi E, Gyoja F, Yue JX, Chen YC, Freeman RM, Sasaki A, Hikosaka-Katayama T, ... ... Chen R, et al. Hemichordate genomes and deuterostome origins. Nature. PMID 26580012 DOI: 10.1038/Nature16150  0.385
2015 Jiang L, Liang X, Li Y, Wang J, Zaneveld JE, Wang H, Xu S, Wang K, Wang B, Chen R, Sui R. Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. Orphanet Journal of Rare Diseases. 10: 110. PMID 26338283 DOI: 10.1186/S13023-015-0329-3  0.347
2015 Xu M, Yang L, Wang F, Li H, Wang X, Wang W, Ge Z, Wang K, Zhao L, Li H, Li Y, Sui R, Chen R. Mutations in human IFT140 cause non-syndromic retinal degeneration. Human Genetics. PMID 26216056 DOI: 10.1007/S00439-015-1586-X  0.385
2015 Zhou Q, Cheng J, Yang W, Tania M, Wang H, Khan MA, Duan C, Zhu L, Chen R, Lv H, Fu J. Identification of a Novel Heterozygous Missense Mutation in the CACNA1F Gene in a Chinese Family with Retinitis Pigmentosa by Next Generation Sequencing. Biomed Research International. 2015: 907827. PMID 26075273 DOI: 10.1155/2015/907827  0.328
2015 Xu M, Gelowani V, Eblimit A, Wang F, Young MP, Sawyer BL, Zhao L, Jenkins G, Creel DJ, Wang K, Ge Z, Wang H, Li Y, Hartnett ME, Chen R. ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement. Investigative Ophthalmology & Visual Science. 56: 3889-95. PMID 26070061 DOI: 10.1167/Iovs.15-16778  0.351
2015 Sheng X, Chen X, Lei B, Chen R, Wang H, Zhang F, Rong W, Ha R, Liu Y, Zhao F, Yang P, Zhao C. Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemia. Journal of Translational Medicine. 13: 179. PMID 26040324 DOI: 10.1186/S12967-015-0534-9  0.325
2015 Rhodes CJ, Im H, Cao A, Hennigs JK, Wang L, Sa S, Chen PI, Nickel NP, Miyagawa K, Hopper RK, Tojais NF, Li CG, Gu M, Spiekerkoetter E, Xian Z, ... Chen R, et al. RNAseq Reveals a Novel Pathway of Endothelial Dysfunction in Pulmonary Arterial Hypertension. American Journal of Respiratory and Critical Care Medicine. PMID 26030479 DOI: 10.1164/Rccm.201408-1528Oc  0.379
2015 Mazur EC, Vasquez YM, Li X, Kommagani R, Jiang L, Chen R, Lanz RB, Kovanci E, Gibbons WE, DeMayo FJ. Progesterone receptor transcriptome and cistrome in decidualized human endometrial stromal cells. Endocrinology. 156: 2239-53. PMID 25781565 DOI: 10.1210/En.2014-1566  0.368
2015 Chen R, Im H, Snyder M. Whole-Exome Enrichment with the Roche NimbleGen SeqCap EZ Exome Library SR Platform. Cold Spring Harbor Protocols. 2015: pdb.prot084855. PMID 25762419 DOI: 10.1101/Pdb.Prot084855  0.472
2015 Chen R, Im H, Snyder M. Whole-Exome Enrichment with the Illumina TruSeq Exome Enrichment Platform. Cold Spring Harbor Protocols. 2015: pdb.prot084863. PMID 25762418 DOI: 10.1101/Pdb.Prot084863  0.485
2015 Chen R, Im H, Snyder M. Whole-Exome Enrichment with the Agilent SureSelect Human All Exon Platform. Cold Spring Harbor Protocols. 2015: pdb.prot083659. PMID 25762417 DOI: 10.1101/Pdb.Prot083659  0.482
2015 Salvo J, Lyubasyuk V, Xu M, Wang H, Wang F, Nguyen D, Wang K, Luo H, Wen C, Shi C, Lin D, Zhang K, Chen R. Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients. Investigative Ophthalmology & Visual Science. 56: 1937-46. PMID 25711638 DOI: 10.1167/Iovs.14-16065  0.349
2015 Zhong H, Chen Y, Li Y, Chen R, Mardon G. CRISPR-engineered mosaicism rapidly reveals that loss of Kcnj13 function in mice mimics human disease phenotypes. Scientific Reports. 5: 8366. PMID 25666713 DOI: 10.1038/Srep08366  0.331
2015 Vasquez YM, Mazur EC, Li X, Kommagani R, Jiang L, Chen R, Lanz RB, Kovanci E, Gibbons WE, DeMayo FJ. FOXO1 is required for binding of PR on IRF4, novel transcriptional regulator of endometrial stromal decidualization. Molecular Endocrinology (Baltimore, Md.). 29: 421-33. PMID 25584414 DOI: 10.1210/Me.2014-1292  0.342
2015 Kmoch S, Majewski J, Ramamurthy V, Cao S, Fahiminiya S, Ren H, MacDonald IM, Lopez I, Sun V, Keser V, Khan A, Stránecký V, Hartmannová H, P?istoupilová A, Hoda?ová K, ... ... Chen R, et al. Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness. Nature Communications. 6: 5614. PMID 25574898 DOI: 10.1038/Ncomms6614  0.308
2015 Wang F, Li H, Xu M, Li H, Zhao L, Yang L, Zaneveld JE, Wang K, Li Y, Sui R, Chen R. A homozygous missense mutation in NEUROD1 is associated with nonsyndromic autosomal recessive retinitis pigmentosa. Investigative Ophthalmology & Visual Science. 56: 150-5. PMID 25477324 DOI: 10.1167/Iovs.14-15382  0.345
2015 Zaneveld J, Siddiqui S, Li H, Wang X, Wang H, Wang K, Li H, Ren H, Lopez I, Dorfman A, Khan A, Wang F, Salvo J, Gelowani V, Li Y, ... ... Chen R, et al. Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 17: 262-70. PMID 25474345 DOI: 10.1038/Gim.2014.174  0.303
2015 Zhao L, Wang F, Wang H, Li Y, Alexander S, Wang K, Willoughby CE, Zaneveld JE, Jiang L, Soens ZT, Earle P, Simpson D, Silvestri G, Chen R. Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland. Human Genetics. 134: 217-30. PMID 25472526 DOI: 10.1007/S00439-014-1512-7  0.345
2015 Eblimit A, Nguyen TM, Chen Y, Esteve-Rudd J, Zhong H, Letteboer S, Van Reeuwijk J, Simons DL, Ding Q, Wu KM, Li Y, Van Beersum S, Moayedi Y, Xu H, Pickard P, ... ... Chen R, et al. Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina. Human Molecular Genetics. 24: 1584-601. PMID 25398945 DOI: 10.1093/Hmg/Ddu573  0.315
2014 Wang F, Wang Y, Zhang B, Zhao L, Lyubasyuk V, Wang K, Xu M, Li Y, Wu F, Wen C, Bernstein PS, Lin D, Zhu S, Wang H, Zhang K, ... Chen R, et al. A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa. Investigative Ophthalmology & Visual Science. 55: 7159-64. PMID 25316723 DOI: 10.1167/Iovs.14-15520  0.34
2014 Yamamoto S, Jaiswal M, Charng WL, Gambin T, Karaca E, Mirzaa G, Wiszniewski W, Sandoval H, Haelterman NA, Xiong B, Zhang K, Bayat V, David G, Li T, Chen K, ... ... Chen R, et al. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell. 159: 200-14. PMID 25259927 DOI: 10.1016/J.Cell.2014.09.002  0.362
2014 Haelterman NA, Jiang L, Li Y, Bayat V, Sandoval H, Ugur B, Tan KL, Zhang K, Bei D, Xiong B, Charng WL, Busby T, Jawaid A, David G, Jaiswal M, ... ... Chen R, et al. Large-scale identification of chemically induced mutations in Drosophila melanogaster. Genome Research. 24: 1707-18. PMID 25258387 DOI: 10.1101/Gr.174615.114  0.348
2014 Daiger SP, Bowne SJ, Sullivan LS, Blanton SH, Weinstock GM, Koboldt DC, Fulton RS, Larsen D, Humphries P, Humphries MM, Pierce EA, Chen R, Li Y. Application of next-generation sequencing to identify genes and mutations causing autosomal dominant retinitis pigmentosa (adRP). Advances in Experimental Medicine and Biology. 801: 123-9. PMID 24664689 DOI: 10.1007/978-1-4614-3209-8_16  0.327
2014 Enns GM, Shashi V, Bainbridge M, Gambello MJ, Zahir FR, Bast T, Crimian R, Schoch K, Platt J, Cox R, Bernstein JA, Scavina M, Walter RS, Bibb A, Jones M, ... Chen R, et al. Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 16: 751-8. PMID 24651605 DOI: 10.1038/Gim.2014.22  0.736
2014 Kuleshov V, Xie D, Chen R, Pushkarev D, Ma Z, Blauwkamp T, Kertesz M, Snyder M. Whole-genome haplotyping using long reads and statistical methods. Nature Biotechnology. 32: 261-6. PMID 24561555 DOI: 10.1038/Nbt.2833  0.532
2014 Kolker E, Özdemir V, Martens L, Hancock W, Anderson G, Anderson N, Aynacioglu S, Baranova A, Campagna SR, Chen R, Choiniere J, Dearth SP, Feng WC, Ferguson L, Fox G, et al. Toward more transparent and reproducible omics studies through a common metadata checklist and data publications. Omics : a Journal of Integrative Biology. 18: 10-4. PMID 24456465 DOI: 10.1089/Omi.2013.0149  0.724
2014 Kunde-Ramamoorthy G, Coarfa C, Laritsky E, Kessler NJ, Harris RA, Xu M, Chen R, Shen L, Milosavljevic A, Waterland RA. Comparison and quantitative verification of mapping algorithms for whole-genome bisulfite sequencing. Nucleic Acids Research. 42: e43. PMID 24391148 DOI: 10.1093/Nar/Gkt1325  0.331
2014 Wang F, Wang H, Tuan HF, Nguyen DH, Sun V, Keser V, Bowne SJ, Sullivan LS, Luo H, Zhao L, Wang X, Zaneveld JE, Salvo JS, Siddiqui S, Mao L, ... ... Chen R, et al. Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. Human Genetics. 133: 331-45. PMID 24154662 DOI: 10.1007/S00439-013-1381-5  0.358
2014 Menon R, Im H, Zhang EY, Wu SL, Chen R, Snyder M, Hancock WS, Omenn GS. Distinct splice variants and pathway enrichment in the cell-line models of aggressive human breast cancer subtypes. Journal of Proteome Research. 13: 212-27. PMID 24111759 DOI: 10.1021/Pr400773V  0.445
2014 Wei Y, Cabrero M, Jia Y, Zheng H, Yang H, Fang Z, Bohannan Z, Chen R, Wang H, Colla S, Wang X, Garcia-Manero G. Association Between Down-Regulation of EZH2 and Abnormal Karyotype, Response to Hypomethylation Treatment, and Patient Survival in Myelodysplastic Syndromes Blood. 124: 3241-3241. DOI: 10.1182/Blood.V124.21.3241.3241  0.322
2014 Im H, Rao V, Sridhar KJ, Chen R, Mias G, Zhang Y, Xiao L, Snyder MP, Greenberg PL. Transcriptomic Evaluation of CD34+ Marrow Cells from Myelodysplastic Syndrome (MDS) Patients Blood. 124: 1894-1894. DOI: 10.1182/Blood.V124.21.1894.1894  0.762
2013 Kolker E, Özdemir V, Martens L, Hancock W, Anderson G, Anderson N, Aynacioglu S, Baranova A, Campagna SR, Chen R, Choiniere J, Dearth SP, Feng WC, Ferguson L, Fox G, et al. Toward More Transparent and Reproducible Omics Studies Through a Common Metadata Checklist and Data Publications. Big Data. 1: 196-201. PMID 27447251 DOI: 10.1089/big.2013.0039  0.71
2013 Mias GI, Chen R, Zhang Y, Sridhar K, Sharon D, Xiao L, Im H, Snyder MP, Greenberg PL. Specific plasma autoantibody reactivity in myelodysplastic syndromes. Scientific Reports. 3: 3311. PMID 24264604 DOI: 10.1038/Srep03311  0.739
2013 Dimicoli S, Wei Y, Bueso-Ramos C, Yang H, Dinardo C, Jia Y, Zheng H, Fang Z, Nguyen M, Pierce S, Chen R, Wang H, Wu C, Garcia-Manero G. Overexpression of the toll-like receptor (TLR) signaling adaptor MYD88, but lack of genetic mutation, in myelodysplastic syndromes. Plos One. 8: e71120. PMID 23976989 DOI: 10.1371/Journal.Pone.0071120  0.319
2013 Wang X, Wang H, Sun V, Tuan HF, Keser V, Wang K, Ren H, Lopez I, Zaneveld JE, Siddiqui S, Bowles S, Khan A, Salvo J, Jacobson SG, Iannaccone A, ... ... Chen R, et al. Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. Journal of Medical Genetics. 50: 674-88. PMID 23847139 DOI: 10.1136/Jmedgenet-2013-101558  0.312
2013 Chen R, Giliani S, Lanzi G, Mias GI, Lonardi S, Dobbs K, Manis J, Im H, Gallagher JE, Phanstiel DH, Euskirchen G, Lacroute P, Bettinger K, Moratto D, Weinacht K, et al. Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. The Journal of Allergy and Clinical Immunology. 132: 656-664.e17. PMID 23830146 DOI: 10.1016/J.Jaci.2013.06.013  0.737
2013 Li Y, Jiang Y, Chen Y, Karandikar U, Hoffman K, Chattopadhyay A, Mardon G, Chen R. optix functions as a link between the retinal determination network and the dpp pathway to control morphogenetic furrow progression in Drosophila. Developmental Biology. 381: 50-61. PMID 23792115 DOI: 10.1016/J.Ydbio.2013.06.015  0.307
2013 Fu Q, Wang F, Wang H, Xu F, Zaneveld JE, Ren H, Keser V, Lopez I, Tuan HF, Salvo JS, Wang X, Zhao L, Wang K, Li Y, Koenekoop RK, ... Chen R, et al. Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa. Investigative Ophthalmology & Visual Science. 54: 4158-66. PMID 23661369 DOI: 10.1167/Iovs.13-11672  0.329
2013 Chen Y, Hong J, Cui W, Zaneveld J, Wang W, Gibbs R, Xiao Y, Chen R. CGAP-Align: A High Performance DNA Short Read Alignment Tool Plos One. 8. PMID 23593381 DOI: 10.1371/Journal.Pone.0061033  0.306
2013 Haase Gilbert E, Kwak SJ, Chen R, Mardon G. Drosophila signal peptidase complex member Spase12 is required for development and cell differentiation. Plos One. 8: e60908. PMID 23573290 DOI: 10.1371/Journal.Pone.0060908  0.32
2013 Clark MJ, Chen R, Snyder M. Exome sequencing by targeted enrichment. Current Protocols in Molecular Biology / Edited by Frederick M. Ausubel ... [Et Al.]. Unit7.12. PMID 23547016 DOI: 10.1002/0471142727.Mb0712S102  0.499
2013 Zaneveld J, Wang F, Wang X, Chen R. Dawn of ocular gene therapy: implications for molecular diagnosis in retinal disease. Science China. Life Sciences. 56: 125-33. PMID 23393028 DOI: 10.1007/S11427-013-4443-Y  0.368
2013 Perrault I, Estrada-Cuzcano A, Lopez I, Kohl S, Li S, Testa F, Zekveld-Vroon R, Wang X, Pomares E, Andorf J, Aboussair N, Banfi S, Delphin N, den Hollander AI, Edelson C, ... ... Chen R, et al. Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype. Plos One. 8: e51622. PMID 23308101 DOI: 10.1371/Journal.Pone.0051622  0.329
2013 Liu S, Im H, Bairoch A, Cristofanilli M, Chen R, Deutsch EW, Dalton S, Fenyo D, Fanayan S, Gates C, Gaudet P, Hincapie M, Hanash S, Kim H, Jeong SK, et al. A chromosome-centric human proteome project (C-HPP) to characterize the sets of proteins encoded in chromosome 17. Journal of Proteome Research. 12: 45-57. PMID 23259914 DOI: 10.1021/Pr300985J  0.74
2013 Chen R, Snyder M. Promise of personalized omics to precision medicine. Wiley Interdisciplinary Reviews. Systems Biology and Medicine. 5: 73-82. PMID 23184638 DOI: 10.1002/Wsbm.1198  0.49
2013 Luo M, Jeong M, Sun D, Park H, Yang L, Wang H, Chen R, Darlington G, Li W, Goodell MA. Long Non-Coding RNAs Control Hematopoietic Stem Cells (HSC) Function Blood. 122: 48-48. DOI: 10.1182/Blood.V122.21.48.48  0.329
2013 Wei Y, Jia Y, Zheng H, Yang H, Chen R, Wang H, Wang X, Garcia-Manero G. Assessment Of EZH2 Expression In CD34+ Bone Marrow Progenitor Cells Of Patients Of Myelodysplastic Syndromes (MDS) Blood. 122: 2805-2805. DOI: 10.1182/Blood.V122.21.2805.2805  0.34
2013 Jeong M, Sun D, Luo M, Huang Y, Ko M, Chavez L, Challen GA, Rodriguez B, Zhang X, Yang L, Wang H, Chen R, Hannah R, Kim S, Lee J, et al. Large Conserved Domains Of Low DNA Methylation Maintained By 5-Hydroxymethycytosine and Dnmt3a Blood. 122: 2406-2406. DOI: 10.1182/Blood.V122.21.2406.2406  0.337
2013 Menon R, Im H, Snyder M, Zhang E(, Chen R, Wu S, Hancock WS, Omenn GS. Abstract B38: Splice variants in aggressive human breast cancer subtypes Cancer Research. 73. DOI: 10.1158/1538-7445.Fbcr13-B38  0.436
2012 Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, et al. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell. 150: 533-48. PMID 22863007 DOI: 10.1016/J.Cell.2012.06.028  0.303
2012 Chen R, Snyder M. Systems biology: personalized medicine for the future? Current Opinion in Pharmacology. 12: 623-8. PMID 22858243 DOI: 10.1016/J.Coph.2012.07.011  0.475
2012 Koenekoop RK, Wang H, Majewski J, Wang X, Lopez I, Ren H, Chen Y, Li Y, Fishman GA, Genead M, Schwartzentruber J, Solanki N, Traboulsi EI, Cheng J, Logan CV, ... ... Chen R, et al. Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. Nature Genetics. 44: 1035-9. PMID 22842230 DOI: 10.1038/Ng.2356  0.362
2012 Kang HP, Yang X, Chen R, Zhang B, Corona E, Schadt EE, Butte AJ. Integration of disease-specific single nucleotide polymorphisms, expression quantitative trait loci and coexpression networks reveal novel candidate genes for type 2 diabetes. Diabetologia. 55: 2205-13. PMID 22584726 DOI: 10.1007/S00125-012-2568-3  0.313
2012 Sun N, Yazawa M, Liu J, Han L, Sanchez-Freire V, Abilez OJ, Navarrete EG, Hu S, Wang L, Lee A, Pavlovic A, Lin S, Chen R, Hajjar RJ, Snyder MP, et al. Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy. Science Translational Medicine. 4: 130ra47. PMID 22517884 DOI: 10.1126/Scitranslmed.3003552  0.43
2012 Chen R, Mias GI, Li-Pook-Than J, Jiang L, Lam HY, Chen R, Miriami E, Karczewski KJ, Hariharan M, Dewey FE, Cheng Y, Clark MJ, Im H, Habegger L, Balasubramanian S, et al. Personal omics profiling reveals dynamic molecular and medical phenotypes. Cell. 148: 1293-307. PMID 22424236 DOI: 10.1016/J.Cell.2012.02.009  0.657
2012 Lam HY, Pan C, Clark MJ, Lacroute P, Chen R, Haraksingh R, O'Huallachain M, Gerstein MB, Kidd JM, Bustamante CD, Snyder M. Detecting and annotating genetic variations using the HugeSeq pipeline. Nature Biotechnology. 30: 226-9. PMID 22398614 DOI: 10.1038/Nbt.2134  0.704
2012 Paik YK, Jeong SK, Omenn GS, Uhlen M, Hanash S, Cho SY, Lee HJ, Na K, Choi EY, Yan F, Zhang F, Zhang Y, Snyder M, Cheng Y, Chen R, et al. The Chromosome-Centric Human Proteome Project for cataloging proteins encoded in the genome. Nature Biotechnology. 30: 221-3. PMID 22398612 DOI: 10.1038/Nbt.2152  0.472
2012 Zhi D, Chen R. Statistical guidance for experimental design and data analysis of mutation detection in rare monogenic mendelian diseases by exome sequencing. Plos One. 7: e31358. PMID 22348076 DOI: 10.1371/Journal.Pone.0031358  0.384
2012 Lam HY, Clark MJ, Chen R, Chen R, Natsoulis G, O'Huallachain M, Dewey FE, Habegger L, Ashley EA, Gerstein MB, Butte AJ, Ji HP, Snyder M. Performance comparison of whole-genome sequencing platforms. Nature Biotechnology. 30: 78-82. PMID 22178993 DOI: 10.1038/Nbt.2065  0.779
2012 Dimicoli S, Wei Y, Chen R, Bueso-Ramos CE, Pierce SA, Yang H, Jia Y, Zheng H, Fang Z, ganan-Gomez I, Nguyen M, Fernandez M, Kantarjian HM, Garcia-Manero G. Toll-Like Receptor (TLR) Signaling Adaptor Protein MYD88 in Myelodysplastic Syndromes (MDS) Blood. 120: 556-556. DOI: 10.1182/Blood.V120.21.556.556  0.319
2012 Bejar R, Stevenson KE, Stojanov P, Zaneveld JE, Bar-Natan M, Caughey B, Wang H, Garcia-Manero G, Kantarjian HM, Cutler C, Ritz J, Cibulskis K, Getz G, Steensma DP, Stone RM, ... Chen R, et al. Detection of Recurrent Mutations by Pooled Targeted Next-Generation Sequencing in MDS Patients Prior to Treatment with Hypomethylating Agents or Stem Cell Transplantation Blood. 120: 311-311. DOI: 10.1182/Blood.V120.21.311.311  0.354
2012 Jeong M, Luo M, Sun D, Darlington G, Hannah R, Gottgens B, Wang H, Chen R, Li W, Goodell MA. HSC Aging Epigenome: Widespread Alterations in DNA Methylation and Transcription. Blood. 120: 2329-2329. DOI: 10.1182/Blood.V120.21.2329.2329  0.338
2012 Lam HYK, Clark MJ, Chen R, Chen R, Natsoulis G, O'Huallachain M, Dewey FE, Habegger L, Ashley EA, Gerstein MB, Butte AJ, Ji HP, Snyder M. Erratum: Corrigendum: Performance comparison of whole-genome sequencing platforms Nature Biotechnology. 30: 562-562. DOI: 10.1038/Nbt0612-562E  0.746
2011 Friedrich M, Chen R, Daines B, Bao R, Caravas J, Rai PK, Zagmajster M, Peck SB. Phototransduction and clock gene expression in the troglobiont beetle Ptomaphagus hirtus of Mammoth cave. The Journal of Experimental Biology. 214: 3532-41. PMID 21993781 DOI: 10.1242/Jeb.060368  0.324
2011 Clark MJ, Chen R, Lam HY, Karczewski KJ, Chen R, Euskirchen G, Butte AJ, Snyder M. Performance comparison of exome DNA sequencing technologies. Nature Biotechnology. 29: 908-14. PMID 21947028 DOI: 10.1038/Nbt.1975  0.532
2011 Wang X, Wang H, Cao M, Li Z, Chen X, Patenia C, Gore A, Abboud EB, Al-Rajhi AA, Lewis RA, Lupski JR, Mardon G, Zhang K, Muzny D, Gibbs RA, ... Chen R, et al. Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. Human Mutation. 32: 1450-9. PMID 21901789 DOI: 10.1002/Humu.21587  0.368
2011 Fasolo J, Sboner A, Sun MG, Yu H, Chen R, Sharon D, Kim PM, Gerstein M, Snyder M. Diverse protein kinase interactions identified by protein microarrays reveal novel connections between cellular processes. Genes & Development. 25: 767-78. PMID 21460040 DOI: 10.1101/Gad.1998811  0.743
2011 Daines B, Wang H, Wang L, Li Y, Han Y, Emmert D, Gelbart W, Wang X, Li W, Gibbs R, Chen R. The Drosophila melanogaster transcriptome by paired-end RNA sequencing. Genome Research. 21: 315-24. PMID 21177959 DOI: 10.1101/Gr.107854.110  0.327
2011 Wiszniewski W, Lewis RA, Stockton DW, Peng J, Mardon G, Chen R, Lupski JR. Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis. Human Genetics. 129: 319-27. PMID 21153841 DOI: 10.1007/S00439-010-0928-Y  0.334
2010 Chen R, Snyder M. Yeast proteomics and protein microarrays. Journal of Proteomics. 73: 2147-57. PMID 20728591 DOI: 10.1016/J.Jprot.2010.08.003  0.491
2010 Sharon D, Chen R, Snyder M. Systems biology approaches to disease marker discovery. Disease Markers. 28: 209-24. PMID 20534906 DOI: 10.3233/Dma-2010-0707  0.778
2010 Wang H, Chattopadhyay A, Li Z, Daines B, Li Y, Gao C, Gibbs R, Zhang K, Chen R. Rapid identification of heterozygous mutations in Drosophila melanogaster using genomic capture sequencing. Genome Research. 20: 981-8. PMID 20472684 DOI: 10.1101/Gr.102921.109  0.366
2010 Parikh A, Miranda ER, Katoh-Kurasawa M, Fuller D, Rot G, Zagar L, Curk T, Sucgang R, Chen R, Zupan B, Loomis WF, Kuspa A, Shaulsky G. Conserved developmental transcriptomes in evolutionarily divergent species. Genome Biology. 11: R35. PMID 20236529 DOI: 10.1186/Gb-2010-11-3-R35  0.322
2010 Counterman BA, Araujo-Perez F, Hines HM, Baxter SW, Morrison CM, Lindstrom DP, Papa R, Ferguson L, Joron M, Ffrench-Constant RH, Smith CP, Nielsen DM, Chen R, Jiggins CD, Reed RD, et al. Genomic hotspots for adaptation: the population genetics of Müllerian mimicry in Heliconius erato. Plos Genetics. 6: e1000796. PMID 20140239 DOI: 10.1371/Journal.Pgen.1000796  0.326
2010 Wei Y, Chen R, Bueso-Ramos C, Yang H, Garcia-Manero G. Abstract 4800: Genome-wide CHIP-Seq analysis of histone methylation reveals modulators of NF-κB signaling and the histone demethylase JMJD3 as implicated in disease progression in myelodysplastic syndrome (MDS) Cancer Research. 70: 4800-4800. DOI: 10.1158/1538-7445.Am10-4800  0.327
2009 Daines B, Wang H, Li Y, Han Y, Gibbs R, Chen R. High-throughput multiplex sequencing to discover copy number variants in Drosophila. Genetics. 182: 935-41. PMID 19528327 DOI: 10.1534/Genetics.109.103218  0.369
2009 Wang H, den Hollander AI, Moayedi Y, Abulimiti A, Li Y, Collin RW, Hoyng CB, Lopez I, Abboud EB, Al-Rajhi AA, Bray M, Lewis RA, Lupski JR, Mardon G, Koenekoop RK, ... Chen R, et al. Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. American Journal of Human Genetics. 84: 380-7. PMID 19268277 DOI: 10.1016/J.Ajhg.2009.02.005  0.328
2009 Li Y, Wang H, Peng J, Gibbs RA, Lewis RA, Lupski JR, Mardon G, Chen R. Mutation survey of known LCA genes and loci in the Saudi Arabian population. Investigative Ophthalmology & Visual Science. 50: 1336-43. PMID 18936139 DOI: 10.1167/Iovs.08-2589  0.332
2009 Wei Y, Chen R, Bueso-Ramos CE, Wang H, Song X, Wang J, Yao H, Nguyen M, Fernandez M, Yang H, Garcia-Manero G. Genome-Wide Chip-Seq Analysis of Histone Methylation Reveals Modulators of NF-κB Signaling and the Histone Demethylase JMJD3 as Implicated in Disease Progression in Myelodysplastic Syndrome (MDS). Blood. 114: 291-291. DOI: 10.1182/Blood.V114.22.291.291  0.327
2008 Srivatsan A, Han Y, Peng J, Tehranchi AK, Gibbs R, Wang JD, Chen R. High-precision, whole-genome sequencing of laboratory strains facilitates genetic studies Plos Genetics. 4. PMID 18670626 DOI: 10.1371/Journal.Pgen.1000139  0.375
2008 Papa R, Morrison CM, Walters JR, Counterman BA, Chen R, Halder G, Ferguson L, Chamberlain N, Ffrench-Constant R, Kapan DD, Jiggins CD, Reed RD, McMillan WO. Highly conserved gene order and numerous novel repetitive elements in genomic regions linked to wing pattern variation in Heliconius butterflies. Bmc Genomics. 9: 345. PMID 18647405 DOI: 10.1186/1471-2164-9-345  0.355
2007 Gibbs RA, Rogers J, Katze MG, Bumgarner R, Weinstock GM, Mardis ER, Remington KA, Strausberg RL, Venter JC, Wilson RK, Batzer MA, Bustamante CD, Eichler EE, Hahn MW, ... ... Chen R, et al. Evolutionary and biomedical insights from the rhesus macaque genome. Science (New York, N.Y.). 316: 222-34. PMID 17431167 DOI: 10.1126/Science.1139247  0.363
2006 Muzny DM, Scherer SE, Kaul R, Wang J, Yu J, Sudbrak R, Buhay CJ, Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris RA, Hawes AC, ... ... Chen R, et al. The DNA sequence, annotation and analysis of human chromosome 3. Nature. 440: 1194-8. PMID 16641997 DOI: 10.1038/Nature04728  0.346
2006 Scherer SE, Muzny DM, Buhay CJ, Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris RA, Hawes AC, Hernandez J, Hodgson AV, Hume J, Jackson A, et al. The finished DNA sequence of human chromosome 12. Nature. 440: 346-51. PMID 16541075 DOI: 10.1038/Nature04569  0.303
2006 Ostrin EJ, Li Y, Hoffman K, Liu J, Wang K, Zhang L, Mardon G, Chen R. Genome-wide identification of direct targets of the Drosophila retinal determination protein Eyeless. Genome Research. 16: 466-76. PMID 16533912 DOI: 10.1101/Gr.4673006  0.33
2005 Pappu KS, Ostrin EJ, Middlebrooks BW, Sili BT, Chen R, Atkins MR, Gibbs R, Mardon G. Dual regulation and redundant function of two eye-specific enhancers of the Drosophila retinal determination gene dachshund. Development (Cambridge, England). 132: 2895-905. PMID 15930118 DOI: 10.1242/Dev.01869  0.301
2005 Chen R, Mardon G. Keeping an eye on the fly genome. Developmental Biology. 282: 285-93. PMID 15893305 DOI: 10.1016/J.Ydbio.2005.04.015  0.373
2005 Richards S, Liu Y, Bettencourt BR, Hradecky P, Letovsky S, Nielsen R, Thornton K, Hubisz MJ, Chen R, Meisel RP, Couronne O, Hua S, Smith MA, Zhang P, Liu J, et al. Comparative genome sequencing of Drosophila pseudoobscura: chromosomal, gene, and cis-element evolution. Genome Research. 15: 1-18. PMID 15632085 DOI: 10.1101/Gr.3059305  0.36
2004 Havlak P, Chen R, Durbin KJ, Egan A, Ren Y, Song XZ, Weinstock GM, Gibbs RA. The Atlas genome assembly system Genome Research. 14: 721-732. PMID 15060016 DOI: 10.1101/Gr.2264004  0.353
2004 Chen R, Sodergren E, Weinstock GM, Gibbs RA. Dynamic building of a BAC clone tiling path for the rat genome sequencing project Genome Research. 14: 679-684. PMID 15060010 DOI: 10.1101/Gr.2171704  0.351
2004 Gibbs RA, Weinstock GM, Metzker ML, Muzny DM, Sodergren EJ, Scherer S, Scott G, Steffen D, Worley KC, Burch PE, Okwuonu G, Hines S, Lewis L, DeRamo C, Delgado O, ... ... Chen R, et al. Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature. 428: 493-521. PMID 15057822 DOI: 10.1038/Nature02426  0.376
2001 Chen R, Bouck JB, Weinstock GM, Gibbs RA. Comparing vertebrate whole-genome shotgun reads to the human genome Genome Research. 11: 1807-1816. PMID 11691844 DOI: 10.1101/Gr.203601  0.373
2001 Cai WW, Chen R, Gibbs RA, Bradley A. A clone-array pooled shotgun strategy for sequencing large genomes. Genome Research. 11: 1619-23. PMID 11591638 DOI: 10.1101/Gr.198101  0.35
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