Publications
Polycomb repressive complex PRC1 spatially constrains the mouse embryonic stem cell genome
Schoenfelder S, Sugar R, Dimond A, Javierre B, Armstrong H, Mifsud B, Dimitrova E, Matheson L, Tavares-Cadete F, Furlan-Magaril M, Segonds-Pichon A, Jurkowski W, Wingett SW, Tabbada K, Andrews S, Herman B, LeProust EM, Osborne CS, Koseki H, Fraser P, Luscombe NM, Elderkin S.
Nature Genetics. 2015 47 1179–1186
Mapping long-range promoter contacts in human cells with high-resolution capture Hi-C
Mifsud B, Tavares-Cadete F, Young AN, Sugar R, Schoenfelder S, Ferreira L, Wingett SW, Andrews S, Grey W, Ewels PA, Herman B, Happe S, Higgs A, LeProust EM, Follows GA, Fraser P, Luscombe NM, Osborne CS.
Nature Genetics. 47 (6) 598-606.
The pluripotent regulatory circuitry connecting promoters to their long-range interacting elements
Schoenfelder S, Furlan-Magaril M, Mifsud B, Tavares-Cadete F, Sugar, R, Javierre B, Nagano T, Katsman Y, Sakthidevi M, Wingett SW, Dimitrova E, Dimond A, Edelman LB, Elderkin S, Tabbada K, Darbo E, Andrews S, Herman B, Higgs A, LeProust EM, Osborne CS, Mitchell JA, Luscombe NM, Fraser P.
Genome Res. 2015. 25: 582-597
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants
Shearer AE, Eppsteiner RW, Booth KT, Ephraim SS, Gurrola J, Simpson A, Black-Ziegelbein EA, Joshi S, Ravi H, Giuffre AC, Happe S, Hildebrand MS, Azaiez H, Bayazit YA, Erdal ME, Lopez-Escamez JA, Gazquez I, Tamayo ML, Gelvez NY, Leal GL, Jalas C, Ekstein J, Yang T, Usami S, Kahrizi K, Bazazzadegan N, Najmabadi H, Scheetz TE, Braun TA, Casavant TL, LeProust EM, Smith RJ.
The American Journal of Human Genetics. 95 4 445-453
Systematic Identification of Barriers to Human iPSC Generation
Qin H, Diaz A, Blouin L, Lebbink RJ, Patena W, Tanbun P, LeProust EM, McManus MT, Song JS, Ramalho-Santos M.
158 (2) 449–461
A high-coverage shRNA screen identifies TMEM129 as an E3 ligase involved in ER-associated protein degradation
van de Weijer ML, Bassik MC, Luteijn RD, Voorburg CM, Lohuis MA, Kremmer E, Hoeben RC, LeProust EM, Chen S, Hoelen H, Ressing ME, Patena W, Weissman JS, McManus MTa, Wiertz, EJa, and Lebbink RJa.
Nat Commun. (2014) 5: 3832.
Evidence for the biogenesis of more than 1,000 novel human microRNAs
Friedländer MR, Lizano E, Houben AJS, Bezdan D, Báñez-Coronel M, Kudla G, Mateu-Huertas E, Kagerbauer B, González J, Chen KC, LeProust EM, Martí E, Estivill X.
Genome biology. 2014 15:R57
Exonic Transcription Factor Binding Directs Codon Choice and Affects Protein Evolution
Stergachis AB, Haugen E, Shafer A, Fu W, Vernot B, Reynolds A, Raubitschek A, Ziegler S, LeProust EM, Akey JM, Stamatoyannopoulos JA.
Science. 2013 342(6164) 1367-1372
Advancing genetic testing for deafness with genomic technology.
Shearer AE, Black-Ziegelbein EA, Hildebrand MS, Eppsteiner RW, Ravi H, Joshi S, Guiffre AC, Sloan CM, Happe S, Howard SD, Novak B, Deluca AP, Taylor KR, Scheetz TE, Braun TA, Casavant TL, Kimberling WJ, Leproust EM, Smith RJ.
Journal of Medical Genetics. 2013 50(9) 627-34
A systematic mammalian genetic interaction map reveals pathways underlying ricin susceptibility.
Bassik MC, Kampmann M, Lebbink RJ, Wang S, Hein MY, Poser I, Weibezahn J, Horlbeck MA, Chen S, Mann M, Hyman AA, Leproust EM, McManus MT, Weissman JS.
Cell. 2013 152(4) 909-22
Targeted genome enrichment for efficient purification of endosymbiont DNA from host DNA.
Geniez S, Foster JM, Kumar S, Moumen B, Leproust E, Hardy O, Guadalupe M, Thomas SJ, Boone B, Hendrickson C, Bouchon D, Grève P, Slatko BE.
Symbiosis. 2012 58 (1-3) 201-207
Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb.
Kurapati R, McKenna C, Lindqvist J, Williams D, Simon M, LeProust E, Baker J, Cheeseman M, Carroll N, Denny P, Laval S, Lochmüller H, Ochala J, Blanco G.
Human Molecular Genetics. 2012 21(8) 1706-24
Autoantigen discovery with a synthetic human peptidome.
Larman HB, Zhao Z, Laserson U, Li MZ, Ciccia A, Gakidis MA, Church GM, Kesari S, Leproust EM, Solimini NL, Elledge SJ.
Nature Biotechnology. 2011 29(6) 535-41
The GENCODE exome: sequencing the complete human exome.
Coffey AJ, Kokocinski F, Calafato MS, Scott CE, Palta P, Drury E, Joyce CJ, Leproust EM, Harrow J, Hunt S, Lehesjoki AE, Turner DJ, Hubbard TJ, Palotie A.
European Journal Human Genetics. 2011 19(7) 827-31
Enrichment of sequencing targets from the human genome by solution hybridization.
Tewhey R, Nakano M, Wang X, Pabón-Peña C, Novak B, Giuffre A, Lin E, Happe S, Roberts DN,LeProust EM, Topol EJ, Harismendy O, Frazer KA.
Genome Biology. 2009 10(10) R116
Digital RNA allelotyping reveals tissue-specific and allele-specific gene expression in human.
Zhang K, Li JB, Gao Y, Egli D, Xie B, Deng J, Li Z, Lee JH, Aach J, Leproust EM, Eggan K, Church GM.
Nature Methods. 2009 6(8) 613-8
Multiplex padlock targeted sequencing reveals human hypermutable CpG variations.
Li JB, Gao Y, Aach J, Zhang K, Kryukov GV, Xie B, Ahlford A, Yoon JK, Rosenbaum AM, Zaranek AW, LeProust E, Sunyaev SR, Church GM.
Genome Research. 2009 19(9) 1606-15
Targeted bisulfite sequencing reveals changes in DNA methylation associated with nuclear reprogramming.
Deng J, Shoemaker R, Xie B, Gore A, LeProust EM, Antosiewicz-Bourget J, Egli D, Maherali N, Park IH, Yu J, Daley GQ, Eggan K, Hochedlinger K, Thomson J, Wang W, Gao Y, Zhang K.
Nature Biotechnology. 2009 27(4) 353-60
Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing.
Gnirke A, Melnikov A, Maguire J, Rogov P, LeProust EM, Brockman W, Fennell T, Giannoukos G, Fisher S, Russ C, Gabriel S, Jaffe DB, Lander ES, Nusbaum C.
Nature Biotechnology. 2009 27(2) 182-9
The DNA-encoded nucleosome organization of a eukaryotic genome.
Kaplan N, Moore IK, Fondufe-Mittendorf Y, Gossett AJ, Tillo D, Field Y, LeProust EM, Hughes TR, Lieb JD, Widom J, Segal E.
Nature. 2009 458(7236) 362-6
Multiplex amplification of large sets of human exons.
Porreca GJ, Zhang K, Li JB, Xie B, Austin D, Vassallo SL, LeProust EM, Peck BJ, Emig CJ, Dahl F, Gao Y, Church GM, Shendure J.
Nature Methods. 2007 4(11) 931-6
Production of complex nucleic acid libraries using highly parallel in situ oligonucleotide synthesis.
Cleary MA, Kilian K, Wang Y, Bradshaw J, Cavet G, Ge W, Kulkarni A, Paddison PJ, Chang K, Sheth N, Leproust E, Coffey EM, Burchard J, McCombie WR, Linsley P, Hannon GJ.
Nature Methods. 2004 1(3) 241-8
Effects of atmospheric ozone on microarray data quality.
Fare TL, Coffey EM, Dai H, He YD, Kessler DA, Kilian KA, Koch JE, LeProust E, Marton MJ, Meyer MR, Stoughton RB, Tokiwa GY, Wang Y.
Analytical Chemistry. 2003 75(17) 4672-5