high impact journal articles

  1. Posey, J.E., Harel, T., Liu, P., Rosenfeld, J.A., James, R.A., Coban Akdemir, Z.H., Walkiewicz, M., Bi, W., Xiao, R., Ding, Y., Xia, F., Beaudet, A.L., Muzny, D.M., Gibbs, R.A., Boerwinkle, E., Eng, C.M., Sutton, V.R., Shaw, C.A., Plon, S.E., Yang, Y. & Lupski, J.R. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 376, 21-31 (2017). PMID: 2795969

  2. Liu, P., Yuan, B., Carvalho, C.M., Wuster, A., Walter, K., Zhang, L., Gambin, T., Chong, Z., Campbell, I.M., Coban Akdemir, Z., Gelowani, V., Writzl, K., Bacino, C.A., Lindsay, S.J., Withers, M., Gonzaga-Jauregui, C., Wiszniewska, J., Scull, J., Stankiewicz, P., Jhangiani, S.N., Muzny, D.M., Zhang, F., Chen, K., Gibbs, R.A., Rautenstrauss, B., Cheung, S.W., Smith, J., Breman, A., Shaw, C.A., Patel, A., Hurles, M.E. & Lupski, J.R. An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell. 168, 830-842 e837 (2017). PMID: 28235197

  3. Eldomery, M.K., Coban-Akdemir, Z., Harel, T., Rosenfeld, J.A., Gambin, T., Stray-Pedersen, A., Kury, S., Mercier, S., Lessel, D., Denecke, J., Wiszniewski, W., Penney, S., Liu, P., Bi, W., Lalani, S.R., Schaaf, C.P., Wangler, M.F., Bacino, C.A., Lewis, R.A., Potocki, L., Graham, B.H., Belmont, J.W., Scaglia, F., Orange, J.S., Jhangiani, S.N., Chiang, T., Doddapaneni, H., Hu, J., Muzny, D.M., Xia, F., Beaudet, A.L., Boerwinkle, E., Eng, C.M., Plon, S.E., Sutton, V.R., Gibbs, R.A., Posey, J.E., Yang, Y. & Lupski, J.R. Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 9, 26 (2017). PMID: 28327206

  4. Bayram, Y., White, J.J., Elcioglu, N., Cho, M.T., Zadeh, N., Gedikbasi, A., Palanduz, S., Ozturk, S., Cefle, K., Kasapcopur, O., Coban Akdemir, Z., Pehlivan, D., Begtrup, A., Carvalho, C.M.B., Paine, I.S., Mentes, A., Bektas-Kayhan, K., Karaca, E., Jhangiani, S.N., Muzny, D.M., Baylor-Hopkins Center for Mendelian, G., Gibbs, R.A. & Lupski, J.R. REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. Am J Hum Genet. 101, 149-156 (2017). PMID: 28686854

  5. Harel, T., Yoon, W.H., Garone, C., Gu, S., Coban-Akdemir, Z., Eldomery, M.K., Posey, J.E., Jhangiani, S.N., Rosenfeld, J.A., Cho, M.T., Fox, S., Withers, M., Brooks, S.M., Chiang, T., Duraine, L., Erdin, S., Yuan, B., Shao, Y., Moussallem, E., Lamperti, C., Donati, M.A., Smith, J.D., McLaughlin, H.M., Eng, C.M., Walkiewicz, M., Xia, F., Pippucci, T., Magini, P., Seri, M., Zeviani, M., Hirano, M., Hunter, J.V., Srour, M., Zanigni, S., Lewis, R.A., Muzny, D.M., Lotze, T.E., Boerwinkle, E., Baylor-Hopkins Center for Mendelian, G., University of Washington Center for Mendelian, G., Gibbs, R.A., Hickey, S.E., Graham, B.H., Yang, Y., Buhas, D., Martin, D.M., Potocki, L., Graziano, C., Bellen, H.J. & Lupski, J.R. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 99, 831-845 (2016). PMID: 27640307

  6. Yuan, B., Harel, T., Gu, S., Liu, P., Burglen, L., Chantot-Bastaraud, S., Gelowani, V., Beck, C.R., Carvalho, C.M., Cheung, S.W., Coe, A., Malan, V., Munnich, A., Magoulas, P.L., Potocki, L. & Lupski, J.R. Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. Am J Hum Genet. 97, 691-707 (2015). PMID: 26544804

  7. Wu, N., Ming, X., Xiao, J., Wu, Z., Chen, X., Shinawi, M., Shen, Y., Yu, G., Liu, J., Xie, H., Gucev, Z.S., Liu, S., Yang, N., Al-Kateb, H., Chen, J., Zhang, J., Hauser, N., Zhang, T., Tasic, V., Liu, P., Su, X., Pan, X., Liu, C., Wang, L., Shen, J., Shen, J., Chen, Y., Zhang, T., Zhang, J., Choy, K.W., Wang, J., Wang, Q., Li, S., Zhou, W., Guo, J., Wang, Y., Zhang, C., Zhao, H., An, Y., Zhao, Y., Wang, J., Liu, Z., Zuo, Y., Tian, Y., Weng, X., Sutton, V.R., Wang, H., Ming, Y., Kulkarni, S., Zhong, T.P., Giampietro, P.F., Dunwoodie, S.L., Cheung, S.W., Zhang, X., Jin, L., Lupski, J.R., Qiu, G. & Zhang, F. TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med. 372, 341-350 (2015). PMID: 25564734

  8. Karaca, E., Harel, T., Pehlivan, D., Jhangiani, S.N., Gambin, T., Coban Akdemir, Z., Gonzaga-Jauregui, C., Erdin, S., Bayram, Y., Campbell, I.M., Hunter, J.V., Atik, M.M., Van Esch, H., Yuan, B., Wiszniewski, W., Isikay, S., Yesil, G., Yuregir, O.O., Tug Bozdogan, S., Aslan, H., Aydin, H., Tos, T., Aksoy, A., De Vivo, D.C., Jain, P., Geckinli, B.B., Sezer, O., Gul, D., Durmaz, B., Cogulu, O., Ozkinay, F., Topcu, V., Candan, S., Cebi, A.H., Ikbal, M., Yilmaz Gulec, E., Gezdirici, A., Koparir, E., Ekici, F., Coskun, S., Cicek, S., Karaer, K., Koparir, A., Duz, M.B., Kirat, E., Fenercioglu, E., Ulucan, H., Seven, M., Guran, T., Elcioglu, N., Yildirim, M.S., Aktas, D., Alikasifoglu, M., Ture, M., Yakut, T., Overton, J.D., Yuksel, A., Ozen, M., Muzny, D.M., Adams, D.R., Boerwinkle, E., Chung, W.K., Gibbs, R.A. & Lupski, J.R. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Neuron. 88, 499-513 (2015). PMID: 26539891

  9. Gonzaga-Jauregui, C., Harel, T., Gambin, T., Kousi, M., Griffin, L.B., Francescatto, L., Ozes, B., Karaca, E., Jhangiani, S.N., Bainbridge, M.N., Lawson, K.S., Pehlivan, D., Okamoto, Y., Withers, M., Mancias, P., Slavotinek, A., Reitnauer, P.J., Goksungur, M.T., Shy, M., Crawford, T.O., Koenig, M., Willer, J., Flores, B.N., Pediaditrakis, I., Us, O., Wiszniewski, W., Parman, Y., Antonellis, A., Muzny, D.M., Baylor-Hopkins Center for Mendelian, G., Katsanis, N., Battaloglu, E., Boerwinkle, E., Gibbs, R.A. & Lupski, J.R. Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Cell Rep. 12, 1169-1183 (2015). PMID: 26257172

  10. Carvalho, C.M., Pfundt, R., King, D.A., Lindsay, S.J., Zuccherato, L.W., Macville, M.V., Liu, P., Johnson, D., Stankiewicz, P., Brown, C.W., Study, D.D.D., Shaw, C.A., Hurles, M.E., Ira, G., Hastings, P.J., Brunner, H.G. & Lupski, J.R. Absence of heterozygosity due to template switching during replicative rearrangements. Am J Hum Genet. 96, 555-564 (2015). PMID: 25799105

  11. Trivellin, G., Daly, A.F., Faucz, F.R., Yuan, B., Rostomyan, L., Larco, D.O., Schernthaner-Reiter, M.H., Szarek, E., Leal, L.F., Caberg, J.H., Castermans, E., Villa, C., Dimopoulos, A., Chittiboina, P., Xekouki, P., Shah, N., Metzger, D., Lysy, P.A., Ferrante, E., Strebkova, N., Mazerkina, N., Zatelli, M.C., Lodish, M., Horvath, A., de Alexandre, R.B., Manning, A.D., Levy, I., Keil, M.F., Sierra Mde, L., Palmeira, L., Coppieters, W., Georges, M., Naves, L.A., Jamar, M., Bours, V., Wu, T.J., Choong, C.S., Bertherat, J., Chanson, P., Kamenicky, P., Farrell, W.E., Barlier, A., Quezado, M., Bjelobaba, I., Stojilkovic, S.S., Wess, J., Costanzi, S., Liu, P., Lupski, J.R., Beckers, A. & Stratakis, C.A. Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. N Engl J Med. 371, 2363-2374 (2014). PMID: 25470569

  12. Yang, Y., Muzny, D.M., Xia, F., Niu, Z., Person, R., Ding, Y., Ward, P., Braxton, A., Wang, M., Buhay, C., Veeraraghavan, N., Hawes, A., Chiang, T., Leduc, M., Beuten, J., Zhang, J., He, W., Scull, J., Willis, A., Landsverk, M., Craigen, W.J., Bekheirnia, M.R., Stray-Pedersen, A., Liu, P., Wen, S., Alcaraz, W., Cui, H., Walkiewicz, M., Reid, J., Bainbridge, M., Patel, A., Boerwinkle, E., Beaudet, A.L., Lupski, J.R., Plon, S.E., Gibbs, R.A. & Eng, C.M. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 312, 1870-1879 (2014). PMID: 25326635

  13. Liu, P., Gelowani, V., Zhang, F., Drory, V.E., Ben-Shachar, S., Roney, E., Medeiros, A.C., Moore, R.J., DiVincenzo, C., Burnette, W.B., Higgins, J.J., Li, J., Orr-Urtreger, A. & Lupski, J.R. Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication. Am J Hum Genet. 94, 462-469 (2014). PMID: 24530202

  14. Yang, Y., Muzny, D.M., Reid, J.G., Bainbridge, M.N., Willis, A., Ward, P.A., Braxton, A., Beuten, J., Xia, F., Niu, Z., Hardison, M., Person, R., Bekheirnia, M.R., Leduc, M.S., Kirby, A., Pham, P., Scull, J., Wang, M., Ding, Y., Plon, S.E., Lupski, J.R., Beaudet, A.L., Gibbs, R.A. & Eng, C.M. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 369, 1502-1511 (2013). PMID: 24088041

  15. Carvalho, C.M., Pehlivan, D., Ramocki, M.B., Fang, P., Alleva, B., Franco, L.M., Belmont, J.W., Hastings, P.J. & Lupski, J.R. Replicative mechanisms for CNV formation are error prone. Nat Genet. 45, 1319-1326 (2013). PMID: 24056715

  16. Liu, P., Lacaria, M., Zhang, F., Withers, M., Hastings, P.J. & Lupski, J.R. Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over. Am J Hum Genet. 89, 580-588 (2011). PMID: 21981782

  17. Liu, P., Erez, A., Nagamani, S.C., Dhar, S.U., Kolodziejska, K.E., Dharmadhikari, A.V., Cooper, M.L., Wiszniewska, J., Zhang, F., Withers, M.A., Bacino, C.A., Campos-Acevedo, L.D., Delgado, M.R., Freedenberg, D., Garnica, A., Grebe, T.A., Hernandez-Almaguer, D., Immken, L., Lalani, S.R., McLean, S.D., Northrup, H., Scaglia, F., Strathearn, L., Trapane, P., Kang, S.H., Patel, A., Cheung, S.W., Hastings, P.J., Stankiewicz, P., Lupski, J.R. & Bi, W. Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell. 146, 889-903 (2011). PMID: 21925314

  18. Carvalho, C.M., Ramocki, M.B., Pehlivan, D., Franco, L.M., Gonzaga-Jauregui, C., Fang, P., McCall, A., Pivnick, E.K., Hines-Dowell, S., Seaver, L.H., Friehling, L., Lee, S., Smith, R., Del Gaudio, D., Withers, M., Liu, P., Cheung, S.W., Belmont, J.W., Zoghbi, H.Y., Hastings, P.J. & Lupski, J.R. Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nat Genet. 43, 1074-1081 (2011). PMID: 21964572

  19. Lupski, J.R., Reid, J.G., Gonzaga-Jauregui, C., Rio Deiros, D., Chen, D.C., Nazareth, L., Bainbridge, M., Dinh, H., Jing, C., Wheeler, D.A., McGuire, A.L., Zhang, F., Stankiewicz, P., Halperin, J.J., Yang, C., Gehman, C., Guo, D., Irikat, R.K., Tom, W., Fantin, N.J., Muzny, D.M. & Gibbs, R.A. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 362, 1181-1191 (2010). PMID: 20220177

  20. Zhang, F., Khajavi, M., Connolly, A.M., Towne, C.F., Batish, S.D. & Lupski, J.R. The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet. 41, 849-853 (2009). PMID: 19543269

  21. Lee, J.A., Carvalho, C.M. & Lupski, J.R. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell. 131, 1235-1247 (2007). PMID: 18160035

  22. Potocki, L., Bi, W., Treadwell-Deering, D., Carvalho, C.M., Eifert, A., Friedman, E.M., Glaze, D., Krull, K., Lee, J.A., Lewis, R.A., Mendoza-Londono, R., Robbins-Furman, P., Shaw, C., Shi, X., Weissenberger, G., Withers, M., Yatsenko, S.A., Zackai, E.H., Stankiewicz, P. & Lupski, J.R. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet. 80, 633-649 (2007). PMID: 17357070

  23. Inoue, K., Khajavi, M., Ohyama, T., Hirabayashi, S., Wilson, J., Reggin, J.D., Mancias, P., Butler, I.J., Wilkinson, M.F., Wegner, M. & Lupski, J.R. Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat Genet. 36, 361-369 (2004). PMID: 15004559

  24. Stankiewicz, P., Shaw, C.J., Dapper, J.D., Wakui, K., Shaffer, L.G., Withers, M., Elizondo, L., Park, S.S. & Lupski, J.R. Genome architecture catalyzes nonrecurrent chromosomal rearrangements. Am J Hum Genet. 72, 1101-1116 (2003). PMID: 12649807

  25. Bi, W., Park, S.S., Shaw, C.J., Withers, M.A., Patel, P.I. & Lupski, J.R. Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2. Am J Hum Genet. 73, 1302-1315 (2003). PMID: 14639526

  26. Takashima, H., Boerkoel, C.F., John, J., Saifi, G.M., Salih, M.A., Armstrong, D., Mao, Y., Quiocho, F.A., Roa, B.B., Nakagawa, M., Stockton, D.W. & Lupski, J.R. Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nat Genet. 32, 267-272 (2002). PMID: 12244316

  27. Katsanis, N., Ansley, S.J., Badano, J.L., Eichers, E.R., Lewis, R.A., Hoskins, B.E., Scambler, P.J., Davidson, W.S., Beales, P.L. & Lupski, J.R. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science. 293, 2256-2259 (2001). PMID: 11567139

  28. Potocki, L., Chen, K.S., Park, S.S., Osterholm, D.E., Withers, M.A., Kimonis, V., Summers, A.M., Meschino, W.S., Anyane-Yeboa, K., Kashork, C.D., Shaffer, L.G. & Lupski, J.R. Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet. 24, 84-87 (2000). PMID: 10615134

  29. Reiter, L.T., Hastings, P.J., Nelis, E., De Jonghe, P., Van Broeckhoven, C. & Lupski, J.R. Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients. Am J Hum Genet. 62, 1023-1033 (1998). PMID: 9545397

  30. Chen, K.S., Manian, P., Koeuth, T., Potocki, L., Zhao, Q., Chinault, A.C., Lee, C.C. & Lupski, J.R. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat Genet. 17, 154-163 (1997). PMID: 9326934

  31. Allikmets, R., Singh, N., Sun, H., Shroyer, N.F., Hutchinson, A., Chidambaram, A., Gerrard, B., Baird, L., Stauffer, D., Peiffer, A., Rattner, A., Smallwood, P., Li, Y., Anderson, K.L., Lewis, R.A., Nathans, J., Leppert, M., Dean, M. & Lupski, J.R. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet. 15, 236-246 (1997). PMID: 9054934

  32. Roa, B.B., Garcia, C.A., Suter, U., Kulpa, D.A., Wise, C.A., Mueller, J., Welcher, A.A., Snipes, G.J., Shooter, E.M., Patel, P.I. & Lupski, J.R. Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. N Engl J Med. 329, 96-101 (1993). PMID: 8510709

  33. Pentao, L., Wise, C.A., Chinault, A.C., Patel, P.I. & Lupski, J.R. Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nat Genet. 2, 292-300 (1992). PMID: 1303282

  34. Lupski, J.R., Wise, C.A., Kuwano, A., Pentao, L., Parke, J.T., Glaze, D.G., Ledbetter, D.H., Greenberg, F. & Patel, P.I. Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. Nat Genet. 1, 29-33 (1992). PMID: 1301995

  35. Versalovic, J., Koeuth, T. & Lupski, J.R. Distribution of repetitive DNA sequences in eubacteria and application to fingerprinting of bacterial genomes. Nucleic Acids Res. 19, 6823-6831 (1991). PMID: 1762913

  36. Lupski, J.R., de Oca-Luna, R.M., Slaugenhaupt, S., Pentao, L., Guzzetta, V., Trask, B.J., Saucedo-Cardenas, O., Barker, D.F., Killian, J.M., Garcia, C.A., Chakravarti, A. & Patel, P.I. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell. 66, 219-232 (1991). PMID: 1677316

Selected reviews and perspectives

  1. Lupski, J.R. Clinical genomics: from a truly personal genome viewpoint. Hum Genet. 135, 591-601 (2016). PMID: 27221143

  2. Carvalho, C.M. & Lupski, J.R. Mechanisms underlying structural variant formation in genomic disorders. Nat Rev Genet. 17, 224-238 (2016). PMID: 26924765

  3. Lupski, J.R. Structural variation mutagenesis of the human genome: Impact on disease and evolution. Environ Mol Mutagen. 56, 419-436 (2015). PMID: 25892534

  4. Zhang, F. and Lupski, J.R. Noncoding genetic variants in human disease.  Human Molecular Genetics.  24:R102-110 (2015). PMID: 26152199

  5. Campbell, I., Shaw, C.A., Stankiewicz, P., Lupski, J.R.  Somatic mosaicism: Implications for disease and transmission genetics.  Trends in Genetics 31:382-392 (2015). PMID: 25910407

  6. Gonzaga-Jauregui, C., Lupski, J.R. & Gibbs, R.A. Human genome sequencing in health and disease. Annu Rev Med. 63, 35-61 (2012). PMID: 22248320

  7. Lupski, J.R., Belmont, J.W., Boerwinkle, E. & Gibbs, R.A. Clan genomics and the complex architecture of human disease. Cell. 147, 32-43 (2011). PMID: 21962505

  8. Stankiewicz, P. and Lupski, J.R.  Structural variation in the human genome and its role in disease.  Annual Reviews of Medicine 61:437-455 (2010). PMID: 20059347

  9. Lupski, J.R. Genomic rearrangements and sporadic disease. Perspective. Nature Genetics.  39:S43-S47 (2007). PMID: 17597781

  10. Lupski, J.R. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet. 14, 417-422 (1998). PMID: 9820031