| Year |
Citation |
Score |
| 2020 |
Rodriguez-Martin B, Alvarez EG, Baez-Ortega A, Zamora J, Supek F, Demeulemeester J, Santamarina M, Ju YS, Temes J, Garcia-Souto D, Detering H, Li Y, Rodriguez-Castro J, Dueso-Barroso A, Bruzos AL, ... ... Kazazian HH, et al. Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition. Nature Genetics. PMID 32024998 DOI: 10.1038/S41588-019-0562-0 |
0.32 |
|
| 2017 |
Kazazian HH, Moran JV. Mobile DNA in Health and Disease. The New England Journal of Medicine. 377: 361-370. PMID 28745987 DOI: 10.1056/Nejmra1510092 |
0.572 |
|
| 2017 |
Richardson SR, Gerdes P, Gerhardt DJ, Sanchez-Luque FJ, Bodea GO, Munoz-Lopez M, Jesuadian JS, Kempen MHC, Carreira PE, Jeddeloh JA, Garcia-Perez JL, Kazazian HH, Ewing AD, Faulkner GJ. Heritable L1 retrotransposition in the mouse primordial germline and early embryo. Genome Research. PMID 28483779 DOI: 10.1101/Gr.219022.116 |
0.337 |
|
| 2017 |
Li P, Du J, Goodier JL, Hou J, Kang J, Kazazian HH, Zhao K, Yu XF. Aicardi-Goutières syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion. Nucleic Acids Research. PMID 28334850 DOI: 10.1093/Nar/Gkx178 |
0.321 |
|
| 2016 |
Doucet-O'Hare TT, Sharmad R, Rodić N, Anders RA, Burns KH, Kazazian HH. Somatically Acquired LINE-1 Insertions in Normal Esophagus Undergo Clonal Expansion in Esophageal Squamous Cell Carcinoma. Human Mutation. PMID 27319353 DOI: 10.1002/Humu.23027 |
0.31 |
|
| 2016 |
Hancks DC, Kazazian HH. Roles for retrotransposon insertions in human disease. Mobile Dna. 7: 9. PMID 27158268 DOI: 10.1186/S13100-016-0065-9 |
0.737 |
|
| 2016 |
Cutting GR, Kazazian HH. 25 Years of Human Mutation. Human Mutation. 37: 503-4. PMID 26990436 DOI: 10.1002/Humu.22988 |
0.308 |
|
| 2016 |
Mandal PK, Kazazian HH. Purification of L1-Ribonucleoprotein Particles (L1-RNPs) from Cultured Human Cells. Methods in Molecular Biology (Clifton, N.J.). 1400: 299-310. PMID 26895061 DOI: 10.1007/978-1-4939-3372-3_19 |
0.336 |
|
| 2016 |
Doucet TT, Kazazian HH. Long Interspersed Element Sequencing (L1-Seq): A Method to Identify Somatic LINE-1 Insertions in the Human Genome. Methods in Molecular Biology (Clifton, N.J.). 1400: 79-93. PMID 26895047 DOI: 10.1007/978-1-4939-3372-3_5 |
0.352 |
|
| 2015 |
Doucet-O'Hare TT, Rodić N, Sharma R, Darbari I, Abril G, Choi JA, Young Ahn J, Cheng Y, Anders RA, Burns KH, Meltzer SJ, Kazazian HH. LINE-1 expression and retrotransposition in Barrett's esophagus and esophageal carcinoma. Proceedings of the National Academy of Sciences of the United States of America. 112: E4894-900. PMID 26283398 DOI: 10.1073/Pnas.1502474112 |
0.309 |
|
| 2015 |
Goodier JL, Pereira GC, Cheung LE, Rose RJ, Kazazian HH. The Broad-Spectrum Antiviral Protein ZAP Restricts Human Retrotransposition. Plos Genetics. 11: e1005252. PMID 26001115 DOI: 10.1371/Journal.Pgen.1005252 |
0.305 |
|
| 2014 |
Kazazian HH. Processed pseudogene insertions in somatic cells. Mobile Dna. 5: 20. PMID 25184004 DOI: 10.1186/1759-8753-5-20 |
0.347 |
|
| 2014 |
Kazazian HH. 2013 Curt Stern Award Introduction: John Moran1 American Journal of Human Genetics. 94: 338-339. DOI: 10.1016/J.Ajhg.2013.11.012 |
0.329 |
|
| 2013 |
Terasaki N, Goodier JL, Cheung LE, Wang YJ, Kajikawa M, Kazazian HH, Okada N. In vitro screening for compounds that enhance human L1 mobilization. Plos One. 8: e74629. PMID 24040300 DOI: 10.1371/Journal.Pone.0074629 |
0.326 |
|
| 2013 |
Goodier JL, Cheung LE, Kazazian HH. Mapping the LINE1 ORF1 protein interactome reveals associated inhibitors of human retrotransposition. Nucleic Acids Research. 41: 7401-19. PMID 23749060 DOI: 10.1093/Nar/Gkt512 |
0.343 |
|
| 2013 |
Mandal PK, Ewing AD, Hancks DC, Kazazian HH. Enrichment of processed pseudogene transcripts in L1-ribonucleoprotein particles. Human Molecular Genetics. 22: 3730-48. PMID 23696454 DOI: 10.1093/Hmg/Ddt225 |
0.718 |
|
| 2012 |
Goodier JL, Cheung LE, Kazazian HH. MOV10 RNA helicase is a potent inhibitor of retrotransposition in cells. Plos Genetics. 8: e1002941. PMID 23093941 DOI: 10.1371/Journal.Pgen.1002941 |
0.321 |
|
| 2012 |
Hancks DC, Mandal PK, Cheung LE, Kazazian HH. The minimal active human SVA retrotransposon requires only the 5'-hexamer and Alu-like domains. Molecular and Cellular Biology. 32: 4718-26. PMID 23007156 DOI: 10.1128/Mcb.00860-12 |
0.728 |
|
| 2012 |
Solyom S, Ewing AD, Rahrmann EP, Doucet T, Nelson HH, Burns MB, Harris RS, Sigmon DF, Casella A, Erlanger B, Wheelan S, Upton KR, Shukla R, Faulkner GJ, Largaespada DA, ... Kazazian HH, et al. Extensive somatic L1 retrotransposition in colorectal tumors. Genome Research. 22: 2328-38. PMID 22968929 DOI: 10.1101/Gr.145235.112 |
0.327 |
|
| 2012 |
Hancks DC, Kazazian HH. Active human retrotransposons: variation and disease. Current Opinion in Genetics & Development. 22: 191-203. PMID 22406018 DOI: 10.1016/J.Gde.2012.02.006 |
0.748 |
|
| 2012 |
Solyom S, Kazazian HH. Mobile elements in the human genome: implications for disease. Genome Medicine. 4: 12. PMID 22364178 DOI: 10.1186/Gm311 |
0.351 |
|
| 2012 |
Solyom S, Ewing AD, Hancks DC, Takeshima Y, Awano H, Matsuo M, Kazazian HH. Pathogenic orphan transduction created by a nonreference LINE-1 retrotransposon. Human Mutation. 33: 369-71. PMID 22095564 DOI: 10.1002/Humu.21663 |
0.75 |
|
| 2011 |
Hancks DC, Goodier JL, Mandal PK, Cheung LE, Kazazian HH. Retrotransposition of marked SVA elements by human L1s in cultured cells. Human Molecular Genetics. 20: 3386-400. PMID 21636526 DOI: 10.1093/Hmg/Ddr245 |
0.732 |
|
| 2011 |
Ewing AD, Kazazian HH. Whole-genome resequencing allows detection of many rare LINE-1 insertion alleles in humans. Genome Research. 21: 985-90. PMID 20980553 DOI: 10.1101/Gr.114777.110 |
0.335 |
|
| 2010 |
Ewing AD, Kazazian HH. High-throughput sequencing reveals extensive variation in human-specific L1 content in individual human genomes. Genome Research. 20: 1262-70. PMID 20488934 DOI: 10.1101/Gr.106419.110 |
0.379 |
|
| 2010 |
Hancks DC, Kazazian HH. SVA retrotransposons: Evolution and genetic instability. Seminars in Cancer Biology. 20: 234-45. PMID 20416380 DOI: 10.1016/J.Semcancer.2010.04.001 |
0.72 |
|
| 2010 |
Goodier JL, Mandal PK, Zhang L, Kazazian HH. Discrete subcellular partitioning of human retrotransposon RNAs despite a common mechanism of genome insertion. Human Molecular Genetics. 19: 1712-25. PMID 20147320 DOI: 10.1093/Hmg/Ddq048 |
0.318 |
|
| 2009 |
Rangwala SH, Zhang L, Kazazian HH. Many LINE1 elements contribute to the transcriptome of human somatic cells Genome Biology. 10. PMID 19772661 DOI: 10.1186/Gb-2009-10-9-R100 |
0.342 |
|
| 2009 |
Hancks DC, Ewing AD, Chen JE, Tokunaga K, Kazazian HH. Exon-trapping mediated by the human retrotransposon SVA. Genome Research. 19: 1983-91. PMID 19635844 DOI: 10.1101/Gr.093153.109 |
0.756 |
|
| 2009 |
Kano H, Godoy I, Courtney C, Vetter MR, Gerton GL, Ostertag EM, Kazazian HH. L1 retrotransposition occurs mainly in embryogenesis and creates somatic mosaicism. Genes & Development. 23: 1303-12. PMID 19487571 DOI: 10.1101/Gad.1803909 |
0.331 |
|
| 2009 |
Rangwala SH, Kazazian HH. The L1 retrotransposition assay: A retrospective and toolkit Methods. 49: 219-226. PMID 19398011 DOI: 10.1016/J.Ymeth.2009.04.012 |
0.3 |
|
| 2008 |
Mandal PK, Kazazian HH. SnapShot: Vertebrate transposons. Cell. 135: 192-192.e1. PMID 18854165 DOI: 10.1016/J.Cell.2008.09.028 |
0.331 |
|
| 2008 |
Goodier JL, Kazazian HH. Retrotransposons revisited: the restraint and rehabilitation of parasites. Cell. 135: 23-35. PMID 18854152 DOI: 10.1016/J.Cell.2008.09.022 |
0.307 |
|
| 2007 |
Babushok DV, Ohshima K, Ostertag EM, Chen X, Wang Y, Mandal PK, Okada N, Abrams CS, Kazazian HH. A novel testis ubiquitin-binding protein gene arose by exon shuffling in hominoids. Genome Research. 17: 1129-38. PMID 17623810 DOI: 10.1101/Gr.6252107 |
0.371 |
|
| 2007 |
van den Hurk JA, Meij IC, Seleme MC, Kano H, Nikopoulos K, Hoefsloot LH, Sistermans EA, de Wijs IJ, Mukhopadhyay A, Plomp AS, de Jong PT, Kazazian HH, Cremers FP. L1 retrotransposition can occur early in human embryonic development. Human Molecular Genetics. 16: 1587-92. PMID 17483097 DOI: 10.1093/Hmg/Ddm108 |
0.374 |
|
| 2007 |
Babushok DV, Kazazian HH. Progress in understanding the biology of the human mutagen LINE-1. Human Mutation. 28: 527-39. PMID 17309057 DOI: 10.1002/Humu.20486 |
0.352 |
|
| 2007 |
Babushok DV, Ostertag EM, Kazazian HH. Current topics in genome evolution: Molecular mechanisms of new gene formation Cellular and Molecular Life Sciences. 64: 542-554. PMID 17192808 DOI: 10.1007/S00018-006-6453-4 |
0.357 |
|
| 2006 |
Yang N, Kazazian HH. L1 retrotransposition is suppressed by endogenously encoded small interfering RNAs in human cultured cells. Nature Structural & Molecular Biology. 13: 763-71. PMID 16936727 DOI: 10.1038/Nsmb1141 |
0.335 |
|
| 2006 |
Kubo S, Seleme MC, Soifer HS, Perez JL, Moran JV, Kazazian HH, Kasahara N. L1 retrotransposition in nondividing and primary human somatic cells. Proceedings of the National Academy of Sciences of the United States of America. 103: 8036-41. PMID 16698926 DOI: 10.1073/Pnas.0601954103 |
0.586 |
|
| 2006 |
Seleme MC, Vetter MR, Cordaux R, Bastone L, Batzer MA, Kazazian HH. Extensive individual variation in L1 retrotransposition capability contributes to human genetic diversity. Proceedings of the National Academy of Sciences of the United States of America. 103: 6611-6. PMID 16618923 DOI: 10.1073/Pnas.0601324103 |
0.373 |
|
| 2006 |
Babushok DV, Ostertag EM, Courtney CE, Choi JM, Kazazian HH. L1 integration in a transgenic mouse model. Genome Research. 16: 240-50. PMID 16365384 DOI: 10.1101/Gr.4571606 |
0.343 |
|
| 2006 |
Kazazian HH, Babushok D, Courtney C, Kano H, Ostertag E, Seleme MdC, Yang N. Biology of mammalian mobile DNA Retrovirology. 3. DOI: 10.1186/1742-4690-3-S1-S56 |
0.372 |
|
| 2005 |
Ostertag EM, Kazazian HH. Genetics: LINEs in mind. Nature. 435: 890-1. PMID 15959497 DOI: 10.1038/435890A |
0.3 |
|
| 2005 |
Yang N, Zhang L, Kazazian HH. L1 retrotransposon-mediated stable gene silencing. Nucleic Acids Research. 33: e57. PMID 15800208 DOI: 10.1093/Nar/Gni056 |
0.356 |
|
| 2005 |
Conley ME, Partain JD, Norland SM, Shurtleff SA, Kazazian HH. Two independent retrotransposon insertions at the same site within the coding region of BTK. Human Mutation. 25: 324-5. PMID 15712380 DOI: 10.1002/Humu.9321 |
0.357 |
|
| 2004 |
Goodier JL, Ostertag EM, Engleka KA, Seleme MC, Kazazian HH. A potential role for the nucleolus in L1 retrotransposition. Human Molecular Genetics. 13: 1041-8. PMID 15028673 DOI: 10.1093/Hmg/Ddh118 |
0.333 |
|
| 2004 |
Farley AH, Luning Prak ET, Kazazian HH. More active human L1 retrotransposons produce longer insertions. Nucleic Acids Research. 32: 502-10. PMID 14742665 DOI: 10.1093/Nar/Gkh202 |
0.31 |
|
| 2004 |
Kubo S, Soifer H, Moran JV, Kazazian HH, Kasahara N. High-capacity adenovirus/ retrotransposon hybrid vectors for efficient and stable gene transfer Molecular Therapy. 9: 295. DOI: 10.1016/J.Ymthe.2004.06.869 |
0.332 |
|
| 2003 |
Deininger PL, Moran JV, Batzer MA, Kazazian HH. Mobile elements and mammalian genome evolution. Current Opinion in Genetics & Development. 13: 651-8. PMID 14638329 DOI: 10.1016/J.Gde.2003.10.013 |
0.59 |
|
| 2003 |
Ostertag EM, Goodier JL, Zhang Y, Kazazian HH. SVA elements are nonautonomous retrotransposons that cause disease in humans. American Journal of Human Genetics. 73: 1444-51. PMID 14628287 DOI: 10.1086/380207 |
0.335 |
|
| 2003 |
Lutz SM, Vincent BJ, Kazazian HH, Batzer MA, Moran JV. Allelic heterogeneity in LINE-1 retrotransposition activity. American Journal of Human Genetics. 73: 1431-7. PMID 14610717 DOI: 10.1086/379744 |
0.62 |
|
| 2003 |
Yang N, Zhang L, Zhang Y, Kazazian HH. An important role for RUNX3 in human L1 transcription and retrotransposition. Nucleic Acids Research. 31: 4929-40. PMID 12907736 DOI: 10.1093/Nar/Gkg663 |
0.36 |
|
| 2003 |
Brouha B, Schustak J, Badge RM, Lutz-Prigge S, Farley AH, Moran JV, Kazazian HH. Hot L1s account for the bulk of retrotransposition in the human population. Proceedings of the National Academy of Sciences of the United States of America. 100: 5280-5. PMID 12682288 DOI: 10.1073/Pnas.0831042100 |
0.593 |
|
| 2003 |
Prak ET, Dodson AW, Farkash EA, Kazazian HH. Tracking an embryonic L1 retrotransposition event. Proceedings of the National Academy of Sciences of the United States of America. 100: 1832-7. PMID 12569170 DOI: 10.1073/Pnas.0337627100 |
0.343 |
|
| 2002 |
Ostertag EM, DeBerardinis RJ, Goodier JL, Zhang Y, Yang N, Gerton GL, Kazazian HH. A mouse model of human L1 retrotransposition. Nature Genetics. 32: 655-60. PMID 12415270 DOI: 10.1038/Ng1022 |
0.325 |
|
| 2002 |
Kazazian HH, Goodier JL. LINE drive. retrotransposition and genome instability. Cell. 110: 277-80. PMID 12176313 DOI: 10.1016/S0092-8674(02)00868-1 |
0.328 |
|
| 2002 |
Brouha B, Meischl C, Ostertag E, de Boer M, Zhang Y, Neijens H, Roos D, Kazazian HH. Evidence consistent with human L1 retrotransposition in maternal meiosis I. American Journal of Human Genetics. 71: 327-36. PMID 12094329 DOI: 10.1086/341722 |
0.393 |
|
| 2002 |
Cotton RGH, Kazazian HH. Human mutation: The Official Journal of the Human Genome Variation Society (HGVS) Human Mutation. 19: 1-1. DOI: 10.1002/Humu.10037 |
0.327 |
|
| 2001 |
Ostertag EM, Kazazian HH. Twin Priming: A Proposed Mechanism for the Creation of Inversions in L1 Retrotransposition Genome Research. 11: 2059-2065. PMID 11731496 DOI: 10.1101/Gr.205701 |
0.328 |
|
| 2001 |
Ostertag EM, Kazazian HH. Biology of Mammalian L1 Retrotransposons Annual Review of Genetics. 35: 501-538. PMID 11700292 DOI: 10.1146/Annurev.Genet.35.102401.091032 |
0.363 |
|
| 2001 |
Goodier JL, Ostertag EM, Du K, Kazazian HH. A novel active L1 retrotransposon subfamily in the mouse. Genome Research. 11: 1677-1685. PMID 11591644 DOI: 10.1101/Gr.198301 |
0.323 |
|
| 2001 |
Wei W, Gilbert N, Ooi SL, Lawler JF, Ostertag EM, Kazazian HH, Boeke JD, Moran JV. Human L1 retrotransposition: cis preference versus trans complementation. Molecular and Cellular Biology. 21: 1429-39. PMID 11158327 DOI: 10.1128/Mcb.21.4.1429-1439.2001 |
0.324 |
|
| 2000 |
Prak ETL, Kazazian HH. Mobile elements and the human genome Nature Reviews Genetics. 1: 134-144. PMID 11253653 DOI: 10.1038/35038572 |
0.338 |
|
| 2000 |
Pulver AE, Mulle J, Nestadt G, Swartz KL, Blouin JL, Dombroski B, Liang KY, Housman DE, Kazazian HH, Antonarakis SE, Lasseter VK, Wolyniec PS, Thornquist MH, McGrath JA. Genetic heterogeneity in schizophrenia: stratification of genome scan data using co-segregating related phenotypes. Molecular Psychiatry. 5: 650-3. PMID 11126395 DOI: 10.1038/Sj.Mp.4000814 |
0.579 |
|
| 2000 |
Paalman MH, Cotton RGH, Kazazian HH. VARIATION, DATABASES, and DISEASE: new directions for human mutation Human Mutation. 16: 97-98. PMID 10923030 DOI: 10.1002/1098-1004(200008)16:2<97::Aid-Humu1>3.0.Co;2-5 |
0.325 |
|
| 2000 |
Fakharzadeh SS, Kazazian HH. Correlation between factor VIII genotype and inhibitor development in hemophilia A. Seminars in Thrombosis and Hemostasis. 26: 167-171. PMID 10919409 DOI: 10.1055/S-2000-9819 |
0.308 |
|
| 2000 |
Goodier JL, Ostertag EM, Kazazian HH. Transduction of 3′-flanking sequences is common in L1 retrotransposition Human Molecular Genetics. 9: 653-657. PMID 10699189 DOI: 10.1093/Hmg/9.4.653 |
0.339 |
|
| 1999 |
Lipshutz GS, Sarkar R, Flebbe-Rehwaldt L, Kazazian H, Gaensler KML. Short-term correction of factor VIII deficiency in a murine model of hemophilia A after delivery of adenovirus murine factor VIII in utero. Proceedings of the National Academy of Sciences of the United States of America. 96: 13324-13329. PMID 10557319 DOI: 10.1073/Pnas.96.23.13324 |
0.315 |
|
| 1999 |
Antonarakis SE, Blouin JL, Lasseter VK, Gehrig C, Radhakrishna U, Nestadt G, Housman DE, Kazazian HH, Kalman K, Gutman G, Fantino E, Chandy KG, Gargus JJ, Pulver AE. Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21. American Journal of Medical Genetics. 88: 348-51. PMID 10402501 DOI: 10.1002/(Sici)1096-8628(19990820)88:4<348::Aid-Ajmg11>3.0.Co;2-N |
0.6 |
|
| 1999 |
Kimberland ML, Divoky V, Prchal J, Schwahn U, Berger W, Kazazian HH. Full-Length Human L1 Insertions Retain the Capacity for High Frequency Retrotransposition in Cultured Cells Human Molecular Genetics. 8: 1557-1560. PMID 10401005 DOI: 10.1093/Hmg/8.8.1557 |
0.361 |
|
| 1999 |
Curtis L, Blouin JL, Radhakrishna U, Gehrig C, Lasseter VK, Wolyniec P, Nestadt G, Dombroski B, Kazazian HH, Pulver AE, Housman D, Bertrand D, Antonarakis SE. No evidence for linkage between schizophrenia and markers at chromosome 15q13-14. American Journal of Medical Genetics. 88: 109-12. PMID 10206225 DOI: 10.1002/(Sici)1096-8628(19990416)88:2<109::Aid-Ajmg1>3.0.Co;2-3 |
0.34 |
|
| 1999 |
Moran JV, DeBerardinis RJ, Kazazian HH. Exon Shuffling by L1 Retrotransposition Science. 283: 1530-1534. PMID 10066175 DOI: 10.1126/Science.283.5407.1530 |
0.381 |
|
| 1998 |
Theophilus BD, Enayat MS, Higuchi M, Kazazian H, Antonarakis SE, Hill FG. Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophila A with different phenotypes. Mutations in brief no. 126. Online. Human Mutation. 11: 334. PMID 10215414 DOI: 10.1002/(Sici)1098-1004(1998)11:4<334::Aid-Humu20>3.0.Co;2-# |
0.61 |
|
| 1998 |
DeBerardinis RJ, Goodier JL, Ostertag EM, Kazazian HH. Rapid amplification of a retrotransposon subfamily is evolving the mouse genome Nature Genetics. 20: 288-290. PMID 9806550 DOI: 10.1038/3104 |
0.346 |
|
| 1998 |
DeBerardinis RJ, Kazazian HH. Full-length L1 elements have arisen recently in the same 1-kb region of the gorilla and human genomes Journal of Molecular Evolution. 47: 292-301. PMID 9732456 DOI: 10.1007/Pl00006387 |
0.35 |
|
| 1998 |
Blouin JL, Dombroski BA, Nath SK, Lasseter VK, Wolyniec PS, Nestadt G, Thornquist M, Ullrich G, McGrath J, Kasch L, Lamacz M, Thomas MG, Gehrig C, Radhakrishna U, Snyder SE, ... ... Kazazian HH, et al. Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21. Nature Genetics. 20: 70-3. PMID 9731535 DOI: 10.1038/1734 |
0.576 |
|
| 1998 |
Vallada H, Curtis D, Sham P, Kunugi H, Zhao J, Murray R, McGuffin P, Nanko S, Owen M, Gill M, Collier D, Antonarakis S, Housman D, Kazazian H, Nestadt G, et al. A transmission disequilibrium and linkage analysis of D22S278 marker alleles in 574 families: further support for a susceptibility locus for schizophrenia at 22q12 Schizophrenia Research. 32: 115-121. PMID 9713907 DOI: 10.1016/S0920-9964(98)00048-6 |
0.588 |
|
| 1998 |
Kazazian HH. Mobile elements and disease. Current Opinion in Genetics & Development. 8: 343-350. PMID 9690999 DOI: 10.1016/S0959-437X(98)80092-0 |
0.301 |
|
| 1998 |
Kazazian HH, Moran JV. The impact of L1 retrotransposons on the human genome. Nature Genetics. 19: 19-24. PMID 9590283 DOI: 10.1038/Ng0598-19 |
0.314 |
|
| 1998 |
Karayiorgou M, Gogos JA, Galke BL, Wolyniec PS, Nestadt G, Antonarakis SE, Kazazian HH, Housman DE, Pulver AE. Identification of sequence variants and analysis of the role of the catechol-O-methyl-transferase gene in schizophrenia susceptibility. Biological Psychiatry. 43: 425-31. PMID 9532347 DOI: 10.1016/S0006-3223(97)00202-3 |
0.604 |
|
| 1998 |
Naas TP, DeBerardinis RJ, Moran JV, Ostertag EM, Kingsmore SF, Seldin MF, Hayashizaki Y, Martin SL, Kazazian HH. An actively retrotransposing, novel subfamily of mouse L1 elements. The Embo Journal. 17: 590-7. PMID 9430649 DOI: 10.1093/Emboj/17.2.590 |
0.382 |
|
| 1998 |
Amano K, Sarkar R, Pemberton S, Kemball-Cook G, Kazazian HH, Kaufman RJ. The molecular basis for cross-reacting material-positive hemophilia A due to missense mutations within the A2-domain of factor VIII. Blood. 91: 538-48. PMID 9427707 DOI: 10.1182/Blood.V91.2.538 |
0.315 |
|
| 1998 |
Theophilus BDM, Enayat MS, Higuchi M, Kazazian HH, Antonarakis SE, Hill FGH. Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophilia A with different phenotypes Human Mutation. 11: 334-334. DOI: 10.1002/(Sici)1098-1004(1998)11:4<334::Aid-Humu21>3.0.Co;2-X |
0.611 |
|
| 1997 |
Sassaman DM, Dombroski BA, Moran JV, Kimberland ML, Naas TP, DeBerardinis RJ, Gabriel A, Swergold GD, Kazazian HH. Many human L1 elements are capable of retrotransposition. Nature Genetics. 16: 37-43. PMID 9140393 DOI: 10.1038/Ng0597-37 |
0.306 |
|
| 1997 |
Moran JV, Holmes SE, Naas TP, DeBerardinis RJ, Boeke JD, Kazazian HH. High frequency retrotransposition in cultured mammalian cells. Cell. 87: 917-27. PMID 8945518 DOI: 10.1016/S0092-8674(00)81998-4 |
0.354 |
|
| 1996 |
Vnencak-Jones CL, Iii JA, Janco RL, Cohen MP, Dupont WD, Kazazian HH, Rossiter JP. Analysis of factor VIII gene inversion mutations in 166 unrelated haemophilia A families: frequency and utility in genetic counselling. Haemophilia : the Official Journal of the World Federation of Hemophilia. 2: 18-23. PMID 27213900 DOI: 10.1111/J.1365-2516.1996.Tb00004.X |
0.402 |
|
| 1996 |
Karayiorgou M, Gogos JA, Galke BL, Jeffery JA, Nestadt G, Wolyniec PS, Antonarakis SE, Kazazian HH, Housman DE, Driscoll DA, Pulver AE. Genotype and phenotype analysis at the 22q11 schizophrenia susceptibility locus. Cold Spring Harbor Symposia On Quantitative Biology. 61: 835-43. PMID 9246508 DOI: 10.1101/Sqb.1996.061.01.082 |
0.561 |
|
| 1996 |
Pulver AE, Wolyniec PS, Housman D, Kazazian HH, Antonarakis SE, Nestadt G, Lasseter VK, McGrath JA, Dombroski B, Karayiorgou M, Ton C, Blouin JL, Kempf L. The Johns Hopkins University Collaborative Schizophrenia Study: an epidemiologic-genetic approach to test the heterogeneity hypothesis and identify schizophrenia susceptibility genes. Cold Spring Harbor Symposia On Quantitative Biology. 61: 797-814. PMID 9246505 DOI: 10.1101/Sqb.1996.061.01.079 |
0.555 |
|
| 1996 |
Wildenauer DB, Schwab SG, Albus M, Hallmayer J, Lerer B, Maier W, Blackwood D, Muir W, Clair DS, Morris S, Moises HW, Yang L, Kristbjarnarson H, Helgason T, Wiese C, ... ... Kazazian H, et al. Additional support for schizophrenia linkage on chromosomes 6 and 8: A multicenter study American Journal of Medical Genetics. 67: 580-594. PMID 8950417 DOI: 10.1002/(Sici)1096-8628(19961122)67:6<580::Aid-Ajmg11>3.0.Co;2-P |
0.566 |
|
| 1996 |
Feng Q, Moran JV, Kazazian HH, Boeke JD. Human L1 retrotransposon encodes a conserved endonuclease required for retrotransposition Cell. 87: 905-916. PMID 8945517 DOI: 10.1016/S0092-8674(00)81997-2 |
0.324 |
|
| 1996 |
Gill M, Vallada H, Collier D, Sham P, Holmans P, Murray R, McGuffin P, Nanko S, Owen M, Antonarakis S, Housman D, Kazazian H, Nestadt G, Pulver AE, Straub RE, et al. A combined analysis of D22S278 marker alleles in affected sib-pairs: support for a susceptibility locus for schizophrenia at chromosome 22q12. Schizophrenia Collaborative Linkage Group (Chromosome 22). American Journal of Medical Genetics. 67: 40-5. PMID 8678112 DOI: 10.1002/(Sici)1096-8628(19960216)67:1<40::Aid-Ajmg6>3.0.Co;2-W |
0.578 |
|
| 1996 |
Wacey AI, Kemball-Cook G, Kazazian HH, Antonarakis SE, Schwaab R, Lindley P, Tuddenham EGD. The haemophilia A mutation search test and resource site, home page of the factor VIII mutation database: HAMSTeRS. Nucleic Acids Research. 24: 100-102. PMID 8594555 DOI: 10.1093/Nar/24.1.100 |
0.563 |
|
| 1996 |
Dombroski BA, Ton CC, Lasseter VK, Snyder SE, Wolyniec P, Nestadt G, Antonarakis SE, Blouin JL, Curran M, Loetscher E, Karayiorgou M, Luebbert H, Housman D, Kazazian HH, Pulver AE. Narrowing of a susceptibility region for schizophrenia on chromosome 8P21-P22 to within 4MB Psychiatric Genetics. 6: 139. DOI: 10.1097/00041444-199623000-00015 |
0.506 |
|
| 1996 |
Antonarakis SE, Blouin JL, Curran M, Luebbert H, Kazazian HH, Dombroski B, Housman D, Ton C, Karayiorgou M, Chakravarti A, Wolyniec P, Lasseter VK, Nestadt G, Pulver AE. Linkage and sib-pair analysis reveal a potential schizophrenia susceptibility gene on chromosome 13q32 Psychiatric Genetics. 6: 136. DOI: 10.1097/00041444-199623000-00009 |
0.548 |
|
| 1995 |
Antonarakis SE, Kazazian HH, Gitschier J, Hutter P, de Moerloose P, Morris MA. Molecular etiology of factor VIII deficiency in hemophilia A. Advances in Experimental Medicine and Biology. 386: 19-34. PMID 8851012 DOI: 10.1007/978-1-4613-0331-2_2 |
0.582 |
|
| 1995 |
Antonarakis SE, Kazazian HH, Tuddenham EGD. Molecular etiology of factor VIII deficiency in hemophilia A. Human Mutation. 5: 1-22. PMID 7728145 DOI: 10.1002/Humu.1380050102 |
0.595 |
|
| 1995 |
Antonarakis SE, Rossiter JP, Young M, Horst J, de Moerloose P, Sommer SS, Ketterling RP, Kazazian HH, Négrier C, Vinciguerra C, Gitschier J, Goossens M, Girodon E, Ghanem N, Plassa F, et al. Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood. 86: 2206-12. PMID 7662970 |
0.523 |
|
| 1995 |
Bi L, Lawler AM, Antonarakis SE, High KA, Gearhart JD, Kazazian HH. Targeted disruption of the mouse factor VIII gene produces a model of haemophilia A Nature Genetics. 10: 119-121. PMID 7647782 DOI: 10.1038/Ng0595-119 |
0.577 |
|
| 1995 |
Kimberland ML, Boehm CD, Kazazian HH. Two novel β‐thalassemia alleles: Poly A signal (AATAAA→AAAA) and −92 C→T Human Mutation. 5: 275-276. PMID 7599641 DOI: 10.1002/Humu.1380050315 |
0.317 |
|
| 1995 |
Antonarakis SE, Blouin JL, Pulver AE, Wolyniec P, Lasseter VK, Nestadt G, Kasch L, Babb R, Kazazian HH, Dombroski B. Schizophrenia susceptibility and chromosome 6p24-22. Nature Genetics. 11: 235-6. PMID 7581443 DOI: 10.1038/Ng1195-235 |
0.555 |
|
| 1995 |
Lasseter VK, Pulver AE, Wolyniec PS, Nestadt G, Meyers D, Karayiorgou M, Housman D, Antonarakis S, Kazazian H, Kasch L. Follow-up report of potential linkage for schizophrenia on chromosome 22q: Part 3. American Journal of Medical Genetics. 60: 172-3. PMID 7485255 DOI: 10.1002/Ajmg.1320600217 |
0.562 |
|
| 1994 |
Garewal G, Fearon CW, Warren TC, Marwaha N, Marwaha RK, Mahadik C, Kazazian HH. The molecular basis of β thalassaemia in Punjabi and Maharashtran Indians includes a multilocus aetiology involving triplicated α‐globin loci British Journal of Haematology. 86: 372-376. PMID 8199027 DOI: 10.1111/J.1365-2141.1994.Tb04742.X |
0.346 |
|
| 1994 |
Pulver AE, Karayiorgou M, Wolyniec PS, Lasseter VK, Kasch L, Nestadt G, Antonarakis S, Housman D, Kazazian HH, Meyers D. Sequential strategy to identify a susceptibility gene for schizophrenia: report of potential linkage on chromosome 22q12-q13.1: Part 1. American Journal of Medical Genetics. 54: 36-43. PMID 8178837 DOI: 10.1002/Ajmg.1320540108 |
0.584 |
|
| 1994 |
Reiss AL, Kazazian HH, Krebs CM, McAughan A, Boehm CD, Abrams MT, Nelson DL. Frequency and stability of the fragile X premutation. Human Molecular Genetics. 3: 393-8. PMID 8012350 DOI: 10.1093/Hmg/3.3.393 |
0.337 |
|
| 1994 |
Holmes SE, Dombroski BA, Krebs CM, Boehm CD, Kazazian HH. A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion Nature Genetics. 7: 143-148. PMID 7920631 DOI: 10.1038/Ng0694-143 |
0.38 |
|
| 1994 |
Pulver AE, Karayiorgou M, Lasseter VK, Wolyniec P, Kasch L, Antonarakis S, Housman D, Kazazian HH, Meyers D, Nestadt G. Follow-up of a report of a potential linkage for schizophrenia on chromosome 22q12-q13.1: Part 2. American Journal of Medical Genetics. 54: 44-50. PMID 7909990 DOI: 10.1002/Ajmg.1320540109 |
0.584 |
|
| 1994 |
Dombroski BA, Feng Q, Mathias SL, Sassaman DM, Scott AF, Kazazian HH, Boeke JD. An in vivo assay for the reverse transcriptase of human retrotransposon L1 in Saccharomyces cerevisiae. Molecular and Cellular Biology. 14: 4485-92. PMID 7516468 DOI: 10.1128/Mcb.14.7.4485 |
0.327 |
|
| 1993 |
Migeon BR, McGinniss MJ, Antonarakis SE, Axelman J, Stasiowski BA, Youssoufian H, Kearns WG, Chung A, Pearson PL, Kazazian HH, Muneer RS. Severe Hemophilia A in a Female by Cryptic Translocation: Order and Orientation of Factor VIII within Xq28 Genomics. 16: 20-25. PMID 8486358 DOI: 10.1006/Geno.1993.1134 |
0.601 |
|
| 1993 |
Hussein IR, Temtamy SA, El‐Beshlawy A, Fearon C, Shalaby Z, Vassilopoulos G, Kazazian HH. Molecular characterization of β‐thalassemia in Egyptians Human Mutation. 2: 48-52. PMID 8477263 DOI: 10.1002/Humu.1380020109 |
0.369 |
|
| 1993 |
McGinniss MJ, Kazazian HH, Hoyer LW, Bi L, Inaba H, Antonarakis SE. Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A. Genomics. 15: 392-398. PMID 8449505 DOI: 10.1006/Geno.1993.1073 |
0.598 |
|
| 1993 |
Dombroski BA, Scott AF, Kazazian HH. Two additional potential retrotransposons isolated from a human L1 subfamily that contains an active retrotransposable element. Proceedings of the National Academy of Sciences of the United States of America. 90: 6513-7. PMID 8393568 DOI: 10.1073/Pnas.90.14.6513 |
0.349 |
|
| 1993 |
McGinniss MJ, Rosenberg C, Stetten G, Schinzel AA, Binkert F, Petersen MB, Kearns WG, Kazazian HH, Pearson PL, Antonarakis SE. Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q- syndrome and a ring chromosome 21. American Journal of Medical Genetics. 46: 647-651. PMID 8362906 DOI: 10.1002/Ajmg.1320460609 |
0.569 |
|
| 1993 |
Oppenheim A, Oron V, Filon D, Fearon CC, Rachmilewitz EA, Kazazian HH, Rund D. Sporadic alleles, including a novel mutation, characterize β-thalassemia in ashkenazi jews Human Mutation. 2: 155-157. PMID 8318995 DOI: 10.1002/Humu.1380020219 |
0.323 |
|
| 1993 |
Lakich D, Kazazian HH, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A Nature Genetics. 5: 236-241. PMID 8275087 DOI: 10.1038/Ng1193-236 |
0.637 |
|
| 1993 |
Pulver A, Karayiorgou M, DeMarchi N, Antonarakis S, Housman D, Kasch L, Kazazian H, Lamacz M, Lasseter V, McGrath J, Meyers D, Nestadt G, Ott J, Ramu E, Wolyniec P, et al. Exclusion of linkage between schizophrenia and some candidate genes Schizophrenia Research. 9: 123. DOI: 10.1016/0920-9964(93)90184-K |
0.305 |
|
| 1993 |
Migeon BR, McGinniss MJ, Antonarakis SE, Axelman J, Stasiowski BA, Youssoufian H, Kearns WG, Chung A, Pearson PL, Kazazian H, Muneer RS. Erratum: Severe hemophilia A in a female by cryptic translocation: Order and orientation of factor VIII within Xq28 (Genomics (1993) 16:1 (20-25)) Genomics. 16. DOI: 10.1006/Geno.1993.1273 |
0.545 |
|
| 1992 |
Economou EP, Kazazian HH, Antonarakis SE. Detection of mutations in the factor VIII gene using single-stranded conformational polymorphism (SSCP). Genomics. 13: 909-911. PMID 1639429 DOI: 10.1016/0888-7543(92)90189-Y |
0.611 |
|
| 1992 |
Aly AM, Higuchi M, Kasper CK, Kazazian HH, Antonarakis SE, Hoyer LW. Hemophilia A due to mutations that create new N-glycosylation sites. Proceedings of the National Academy of Sciences of the United States of America. 89: 4933-4937. PMID 1594597 DOI: 10.1073/Pnas.89.11.4933 |
0.573 |
|
| 1992 |
Miller M, Boehm C, Cotton M, Kazazian HH. Usefulness of a CACA repeat polymorphism in genotype assignments in Duchenne/Becker muscular dystrophy American Journal of Medical Genetics. 44: 473-476. PMID 1442890 DOI: 10.1002/Ajmg.1320440417 |
0.321 |
|
| 1992 |
Rund D, Dowling C, Najjar K, Rachmilewitz EA, Kazazian HH, Oppenheim A. Two mutations in the beta-globin polyadenylylation signal reveal extended transcripts and new RNA polyadenylylation sites. Proceedings of the National Academy of Sciences of the United States of America. 89: 4324-4328. PMID 1374896 DOI: 10.1073/Pnas.89.10.4324 |
0.365 |
|
| 1992 |
Kazazian HH, Dowling CE, Hurwitz R, Coleman M, Stopeck A, Adams JG. Dominant thalassemia-like phenotypes associated with mutations in exon 3 of the β-globin gene Blood. 79: 3014-3018. DOI: 10.1182/Blood.V79.11.3014.3014 |
0.368 |
|
| 1991 |
Rund D, Cohen T, Filon D, Dowling CE, Warren TC, Barak I, Rachmilewitz E, Kazazian HH, Oppenheim A. Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan. Proceedings of the National Academy of Sciences of the United States of America. 88: 310-314. PMID 1986379 DOI: 10.1073/Pnas.88.1.310 |
0.374 |
|
| 1991 |
Higuchi M, Antonarakis SE, Kasch L, Oldenburg J, Economou-Petersen E, Olek K, Arai M, Inaba H, Kazazian HH. Molecular characterization of mild-to-moderate hemophilia A : detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis Proceedings of the National Academy of Sciences of the United States of America. 88: 8307-8311. PMID 1924291 DOI: 10.1073/Pnas.88.19.8307 |
0.623 |
|
| 1991 |
Tuddenham EGD, Cooper DN, Gitschier J, Higuchi M, Hoyer LW, Yoshioka A, Peake IR, Schwaab R, Olek K, Kazazian HH, Lavergne JM, Giannelli F, Antonarakis SE. Haemophilia A: Database of ncleotide substituttions, deletions, insertions and rearrangements of the factor VIII gene Nucleic Acids Research. 19: 4821-4833. PMID 1923751 DOI: 10.1093/Nar/19.18.4821 |
0.392 |
|
| 1991 |
Higuchi M, Kazazian HH, Kasch L, Warren TC, McGinniss MJ, Phillips JA, Kasper C, Janco R, Antonarakis SE. Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene. Proceedings of the National Academy of Sciences of the United States of America. 88: 7405-7409. PMID 1908096 DOI: 10.1073/Pnas.88.16.7405 |
0.637 |
|
| 1991 |
Woods-Samuels P, Kazazian HH, Antonarakis SE. Nonhomologous recombination in the human genome: deletions in the human factor VIII gene. Genomics. 10: 94-101. PMID 1904396 DOI: 10.1016/0888-7543(91)90489-2 |
0.63 |
|
| 1991 |
Economou EP, Antonarakis SE, Dowling CC, Ibarra B, Mora Edl, Kazazian HH. Molecular heterogeneity of β-thalassemia in Mestizo Mexicans Genomics. 11: 474. PMID 1769663 DOI: 10.1016/0888-7543(91)90161-7 |
0.519 |
|
| 1991 |
Mathias SL, Scott AF, Kazazian HH, Boeke JD, Gabriel A. Reverse transcriptase encoded by a human transposable element. Science (New York, N.Y.). 254: 1808-10. PMID 1722352 DOI: 10.1126/Science.1722352 |
0.343 |
|
| 1991 |
Mcginniss MJ, Horisberger MA, Kazazian H, Antonarakis SE. An Mspl polymorphism at the MX1 locus in 21q22.3 Nucleic Acids Research. 19: 5451-5451. PMID 1717949 DOI: 10.1093/Nar/19.19.5451 |
0.556 |
|
| 1991 |
Kazazian HH, Dowling CE, Boehm CD, Warren TC, Economou EP, Katz J, Antonarakis SE. Gene defects in beta-thalassemia and their prenatal diagnosis. Annals of the New York Academy of Sciences. 612: 1-14. PMID 1705403 DOI: 10.1111/J.1749-6632.1990.Tb24285.X |
0.566 |
|
| 1991 |
Dombroski BA, Mathias SL, Nanthakumar E, Scott AF, Kazazian HH. Isolation of an active human transposable element. Science (New York, N.Y.). 254: 1805-8. PMID 1662412 DOI: 10.1126/Science.1662412 |
0.369 |
|
| 1991 |
Economou EP, Antonarakis SE, Kazazian H, Serjeant GR, Dover GJ. Variation in hemoglobin F production among normal and sickle cell adults is not related to nucleotide substitutions in the gamma promoter regions. Blood. 77: 174-177. DOI: 10.1182/Blood.V77.1.174.Bloodjournal771174 |
0.595 |
|
| 1990 |
Cutting GR, Kasch LM, Rosenstein BJ, Tsui LC, Kazazian HH, Antonarakis SE. Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease. The New England Journal of Medicine. 323: 1685-9. PMID 2233965 DOI: 10.1056/Nejm199012133232407 |
0.551 |
|
| 1990 |
Traytman MD, Higuchi M, Kasper CK, Antonarakis SE, Kazazian HH. Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene Genomics. 6: 293-301. PMID 2106480 DOI: 10.1016/0888-7543(90)90569-G |
0.619 |
|
| 1990 |
Higuchi M, Wong C, Kochhan L, Olek K, Aronis S, Kasper CK, Kazazian HH, Antonarakis SE. Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA. Genomics. 6: 65-71. PMID 2105906 DOI: 10.1016/0888-7543(90)90448-4 |
0.629 |
|
| 1990 |
Long JC, Chakravarti A, Boehm CD, Antonarakis S, Kazazian HH. Phylogeny of human beta-globin haplotypes and its implications for recent human evolution. American Journal of Physical Anthropology. 81: 113-30. PMID 1967905 DOI: 10.1002/Ajpa.1330810112 |
0.593 |
|
| 1990 |
Oppenheim A, Yaari A, Rund D, Rachmilewitz EA, Nathan D, Wong C, Kazazian HH, Miller B. Intrinsic potential for high fetal hemoglobin production in a Druze family with β-thalassemia is due to an unlinked genetic determinant Human Genetics. 86: 175-180. PMID 1702403 DOI: 10.1007/Bf00197701 |
0.309 |
|
| 1990 |
Cutting GR, Kasch LM, Rosenstein BJ, Zielenski J, Tsui LC, Antonarakis SE, Kazazian HH. A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. Nature. 346: 366-9. PMID 1695717 DOI: 10.1038/346366A0 |
0.578 |
|
| 1990 |
Inaba H, Fujimaki M, Kazazian HH, Antonarakis SE. MspI polymorphic site in intron 22 of the factor VIII gene in the Japanese population. Human Genetics. 84: 214-215. PMID 1688823 DOI: 10.1007/Bf00208947 |
0.585 |
|
| 1990 |
Boehm CD, Kazazian HH. The molecular basis of genetic disease. Current Opinion in Biotechnology. 1: 180-187. PMID 1367855 DOI: 10.1016/0958-1669(90)90028-J |
0.406 |
|
| 1989 |
Cutting GR, Kazazian HH, Antonarakis SE, Killen PD, Yamada Y, Francomano CA. Macrorestriction mapping of COL4A1 and COL4A2 collagen genes on human chromosome 13q34. Genomics. 3: 256-63. PMID 3224982 DOI: 10.1016/0888-7543(88)90086-9 |
0.605 |
|
| 1989 |
Semenza GL, Dowling CE, Kazazian HH. Hinf I polymorphism 3' to the human beta-globin gene detected by the polymerase chain reaction (PCR). Nucleic Acids Research. 17: 2376. PMID 2565032 DOI: 10.1093/Nar/17.6.2376 |
0.608 |
|
| 1989 |
Zweig RM, Koven SJ, Hedreen JC, Maestri NE, Kazazian HH, Folstein SE. Linkage to the Huntington's disease locus in a family with unusual clinical and pathological features. Annals of Neurology. 26: 78-84. PMID 2528319 DOI: 10.1002/Ana.410260112 |
0.321 |
|
| 1989 |
Arai M, Inaba H, Higuchi M, Antonarakis SE, Kazazian H, Fujimaki M, Hoyer LW. Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372----histidine). Proceedings of the National Academy of Sciences of the United States of America. 86: 4277-4281. PMID 2498882 DOI: 10.1073/Pnas.86.11.4277 |
0.582 |
|
| 1989 |
Woods-Samuels P, Wong C, Mathias SL, Scott AF, Kazazian HH, Antonarakis SE. Characterization of a nondeleterious L1 insertion in an intron of the human factor VIII gene and further evidence of open reading frames in functional L1 elements. Genomics. 4: 290-6. PMID 2497061 DOI: 10.1016/0888-7543(89)90332-7 |
0.608 |
|
| 1989 |
Inaba H, Fujimaki M, Kazazian HH, Antonarakis SE. Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene. Human Genetics. 81: 335-338. PMID 2495245 DOI: 10.1007/Bf00283686 |
0.626 |
|
| 1989 |
Wong C, Antonarakis SE, Goff SC, Orkin SH, Forget BG, Nathan DG, Giardina PJV, Kazazian H. Beta-thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the beta-globin gene. Blood. 73: 914-918. DOI: 10.1182/Blood.V73.4.914.Bloodjournal734914 |
0.389 |
|
| 1989 |
Gootenberg JE, Boehm CD, Kazazian HH. Independent Origin of a βS‐Globin Gene in a Caucasian with Sickle Cell Anemia Annals of the New York Academy of Sciences. 565: 389-392. DOI: 10.1111/J.1749-6632.1989.Tb24199.X |
0.318 |
|
| 1988 |
Atweh GF, Brickner HE, Zhu X, Kazazian HH, Forget BG. New amber mutation in a beta-thalassemic gene with nonmeasurable levels of mutant messenger RNA in vivo. Journal of Clinical Investigation. 82: 557-561. PMID 3403716 DOI: 10.1172/Jci113632 |
0.369 |
|
| 1988 |
Huang S, Waber PG, Dowling CE, Wong C, Antonarakis SE, Cai RL, Wang MQ, Lo WHY, Kazazian H. Beta-thalassemia in China: a systematic molecular characterization of beta-thalassemia mutations. Hemoglobin. 12: 621-628. PMID 3209404 DOI: 10.3109/03630268808991653 |
0.613 |
|
| 1988 |
Youssoufian H, Kasper CK, Phillips DG, Kazazian HH, Antonarakis SE. Restriction endonuclease mapping of six novel deletions of the factor VIII gene in hemophilia A. Human Genetics. 80: 143-148. PMID 3139545 DOI: 10.1007/Bf00702857 |
0.622 |
|
| 1988 |
Youssoufian H, Kazazian HH, Patel A, Aronis S, Tsiftis G, Hoyer LW, Antonarakis SE. Mild hemophilia A associated with a cryptic donor splice site mutation in intron 4 of the factor VIII gene. Genomics. 2: 32-36. PMID 2838411 DOI: 10.1016/0888-7543(88)90106-1 |
0.618 |
|
| 1988 |
Kazazian HH, Wong C, Youssoufian H, Scott AF, Phillips DG, Antonarakis SE. Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man. Nature. 332: 164-6. PMID 2831458 DOI: 10.1038/332164A0 |
0.615 |
|
| 1988 |
Kazazian HH, Boehm CD. Molecular basis and prenatal diagnosis of beta-thalassemia Blood. 72: 1107-1116. DOI: 10.1182/Blood.V72.4.1107.Bloodjournal7241107 |
0.338 |
|
| 1988 |
Marzo RD, Dowling CE, Wong C, Maggio A, Kazazian HH. The spectrum of β‐thalassaemia mutations in Sicily British Journal of Haematology. 69: 393-397. DOI: 10.1111/J.1365-2141.1988.00387.X-I1 |
0.377 |
|
| 1987 |
Wong C, Dowling CE, Saiki RK, Higuchi RG, Erlich HA, Kazazian HH. Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA Nature. 330: 384-386. PMID 3683554 DOI: 10.1038/330384A0 |
0.406 |
|
| 1987 |
Youssoufian H, Antonarakis SE, Aronis S, Tsiftis G, Phillips DG, Kazazian HH. Characterization of five partial deletions of the factor VIII gene Proceedings of the National Academy of Sciences of the United States of America. 84: 3772-3776. PMID 3035554 DOI: 10.1073/Pnas.84.11.3772 |
0.642 |
|
| 1987 |
Youssoufian H, Phillips DG, Kazazian HH, Antonarakis SE. Mspl polymorphism in the 3′ flanking region of the human factor VIII gene Nucleic Acids Research. 15: 6312-6312. PMID 2888084 DOI: 10.1093/Nar/15.15.6312 |
0.605 |
|
| 1987 |
Atweh GF, Wong C, Reed R, Antonarakis SE, Zhu D, Ghosh PK, Maniatis T, Forget BG, Kazazian HH. A new mutation in IVS-1 of the human beta globin gene causing beta thalassemia due to abnormal splicing. Blood. 70: 147-51. PMID 2439149 |
0.582 |
|
| 1987 |
Youssoufian H, Patel A, Phillips D, Kazazian HH, Antonarakis SE. Hemophilia A: Recurrent Mutations And An Unusual Deletion Pediatric Research. 21: 296-296. DOI: 10.1203/00006450-198704010-00771 |
0.621 |
|
| 1987 |
Atweh GF, Zhu X, Brickner HE, Dowling CH, Kazazian HH, Forget BG. The beta-globin gene on the Chinese delta beta-thalassemia chromosome carries a promoter mutation. Blood. 70: 1470-1474. DOI: 10.1182/Blood.V70.5.1470.1470 |
0.38 |
|
| 1987 |
Atweh G, Wong C, Reed R, Antonarakis S, Zhu D, Ghosh P, Maniatis T, Forget B, Kazazian H. A new mutation in IVS-1 of the human beta globin gene causing beta thalassemia due to abnormal splicing Blood. 70: 147-151. DOI: 10.1182/Blood.V70.1.147.147 |
0.393 |
|
| 1986 |
Kazazian H, Antonarakis SE, Youssoufian H, Dowling CE, Phillips DG, Wong C, Boehm CD. Comparison of deficiency alleles of the beta-globin and factor VIII:C genes: new lessons from a giant gene. Cold Spring Harbor Symposia On Quantitative Biology. 51: 371-379. PMID 3107876 DOI: 10.1101/Sqb.1986.051.01.045 |
0.598 |
|
| 1986 |
Youssoufian H, Kazazian HH, Phillips DG, Aronis S, Tsiftis G, Brown VA, Antonarakis SE. Recurrent mutations in haemophilia a give evidence for CpG mutation hotspots Nature. 324: 380-382. PMID 3097553 DOI: 10.1038/324380A0 |
0.603 |
|
| 1986 |
Huang S, Wong C, Antonarakis SE, Ro-lien T, Lo WHY, Kazazian HH. The same "TATA" box β-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation Human Genetics. 74: 162-164. PMID 3021607 DOI: 10.1007/Bf00282081 |
0.611 |
|
| 1986 |
Cohen T, Karathanasis SK, Kazazian H, Antonarakis SE. DNA polymorphic sites in the human ApoAI-CIII-AIV cluster: Taq I and Ava I. Nucleic Acids Research. 14: 1924-1924. PMID 3005989 DOI: 10.1093/Nar/14.4.1924 |
0.549 |
|
| 1986 |
Kazazian HH, Dowling CE, Waber PG, Huang S, Lo WHY. The spectrum of beta-thalassemia genes in China and Southeast Asia. Blood. 68: 964-966. DOI: 10.1182/Blood.V68.4.964.Bloodjournal684964 |
0.359 |
|
| 1985 |
Kazazian HH. The nature of mutation. Hospital Practice. 20: 55-69. PMID 3918066 DOI: 10.1080/21548331.1985.11702990 |
0.316 |
|
| 1985 |
Antonarakis SE, Kazazian HH, Orkin SH. DNA polymorphism and molecular pathology of the human globin gene clusters Human Genetics. 69: 1-14. PMID 3881334 DOI: 10.1007/Bf00295521 |
0.632 |
|
| 1985 |
Kazazian HH, Antonarakis SE, Wong C, Trusko SP, Stetten G, Oliver M, Potter MJ, Gusella JF, Watkins PC. Ring chromosome 21: characterization of DNA sequences at sites of breakage and reunion. Annals of the New York Academy of Sciences. 450: 33-42. PMID 3160292 DOI: 10.1111/J.1749-6632.1985.Tb21481.X |
0.597 |
|
| 1985 |
Boehm C, Kazazian HH, Rowley PT. Prenatal diagnosis of hemoglobinopathies by DNA analysis. Critical Reviews in Oncology Hematology. 4: 155-167. PMID 2998637 DOI: 10.1016/S1040-8428(85)80014-7 |
0.381 |
|
| 1985 |
Antonarakis SE, Waber PG, Kittur SD, Patel AS, Kazazian H, Mellis MA, Counts RB, Stamatoyannopoulos G, Bowie EJ, Fass DN. Hemophilia A Detection of Molecular Defects and of Carriers by DNA Analysis The New England Journal of Medicine. 313: 842-848. PMID 2993888 DOI: 10.1056/Nejm198510033131402 |
0.588 |
|
| 1985 |
Kittur SD, Hoppener JW, Antonarakis SE, Daniels JD, Meyers DA, Maestri NE, Jansen M, Korneluk RG, Nelkin BD, Kazazian HH. Linkage map of the short arm of human chromosome 11: location of the genes for catalase, calcitonin, and insulin-like growth factor II. Proceedings of the National Academy of Sciences of the United States of America. 82: 5064-7. PMID 2991908 DOI: 10.1073/Pnas.82.15.5064 |
0.591 |
|
| 1985 |
ANTONARAKIS SE, KITTUR SD, METAXOTOU C, BARTSOCAS C, KITSIOU S, WATKINS PC, PATEL AS, WARREN AC, GUSELLA JF, GRONER Y, CHAKRAVARTI A, MEYERS DA, KAZAZIAN HH. Linkage Map on Chromosome 21q and the Association of a DNA Haplotype with a Propensity to Nondisjunction and Trisomy 21 Annals of the New York Academy of Sciences. 450: 95-107. PMID 2990311 DOI: 10.1111/J.1749-6632.1985.Tb21486.X |
0.565 |
|
| 1985 |
Antonarakis SE, Copeland KL, Carpenter RJ, Carta CA, Hoyer LW, Caskey CT, Toole JJ, Kazazian HH. Prenatal diagnosis of haemophilia A by factor VIII gene analysis. Lancet. 1: 1407-9. PMID 2861360 DOI: 10.1016/S0140-6736(85)91842-2 |
0.544 |
|
| 1985 |
Antonarakis SE, Kittur SD, Metaxotou C, Patel AS, Watkins PE, Kazazian HH. 800 Anaixsis Of Dna Haplotypes Suggests A Genetic Predisposition To Trisomy 21 Associated With Dna Sequences On Chromosome 21 Pediatric Research. 19: 244-244. DOI: 10.1203/00006450-198504000-00830 |
0.576 |
|
| 1985 |
Kazazian HH. Molecular pathology of the β-globin gene cluster Trends in Neurosciences. 8: 192-200. DOI: 10.1016/0166-2236(85)90077-3 |
0.384 |
|
| 1984 |
Kazazian HH, Orkin SH, Markham AF, Chapman CR, Youssoufian H, Waber PG. Quantification of the close association between DNA haplotypes and specific β -thalassaemia mutations in Mediterraneans Nature. 310: 152-154. PMID 6738712 DOI: 10.1038/310152A0 |
0.38 |
|
| 1984 |
Cheng TC, Orkin SH, Antonarakis SE, Potter MJ, Sexton JP, Markham AF, Giardina PJ, Li A, Kazazian HH. beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects. Proceedings of the National Academy of Sciences of the United States of America. 81: 2821-5. PMID 6585831 DOI: 10.1073/Pnas.81.9.2821 |
0.627 |
|
| 1984 |
Antonarakis SE, Irkin SH, Cheng TC, Scott AF, Sexton JP, Trusko SP, Charache S, Kazazian HH. beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site. Proceedings of the National Academy of Sciences of the United States of America. 81: 1154-8. PMID 6583702 DOI: 10.1073/Pnas.81.4.1154 |
0.616 |
|
| 1984 |
Antonarakis SE, Boehm CD, Serjeant GR, Theisen CE, Dover GJ, Kazazian HH. Origin of the beta S-globin gene in blacks: the contribution of recurrent mutation or gene conversion or both. Proceedings of the National Academy of Sciences of the United States of America. 81: 853-856. PMID 6583683 DOI: 10.1073/Pnas.81.3.853 |
0.603 |
|
| 1984 |
Hutz MH, Michelson AM, Antonarakis SE, Orkin SH, Kazazian H. Restriction site polymorphism in the phosphoglycerate kinase gene on the X chromosome Human Genetics. 66: 217-219. PMID 6325324 DOI: 10.1007/Bf00286604 |
0.588 |
|
| 1984 |
Orkin SH, Kazazian HH. The mutation and polymorphism of the human beta-globin gene and its surrounding DNA Annual Review of Genetics. 18: 131-171. PMID 6084979 DOI: 10.1146/Annurev.Ge.18.120184.001023 |
0.384 |
|
| 1984 |
Antonarakis SE, Gusella JF, Stetten G, Potter MJ, Watkins PC, Kazazian HH. RING 21 CHROMOSOME: LOCALIZATION OF THE BREAKPOINTS WITHIN A 2 KB DNA FRAGMENT Pediatric Research. 18: 219A-219A. DOI: 10.1203/00006450-198404001-00755 |
0.515 |
|
| 1983 |
Antonarakis SE, Phillips JA, Mallonee RL, Kazazian HH, Fearon ER, Waber PG, Kronenberg HM, Ullrich A, Meyers DA. Beta-globin locus is linked to the parathyroid hormone (PTH) locus and lies between the insulin and PTH loci in man. Proceedings of the National Academy of Sciences of the United States of America. 80: 6615-9. PMID 6314332 DOI: 10.1073/Pnas.80.21.6615 |
0.584 |
|
| 1983 |
Boehm CD, Antonarakis SE, Phillips JA, Stetten G, Kazazian HH. Prenatal diagnosis using DNA polymorphisms. Report on 95 pregnancies at risk for sickle-cell disease or beta-thalassemia. The New England Journal of Medicine. 308: 1054-1058. PMID 6300677 DOI: 10.1056/Nejm198305053081803 |
0.58 |
|
| 1983 |
KAZAZIAN HH, CHAKRAVARTI A, ORKIN SH. Identity of different mutations for deleterious genes (reply) Nature. 301: 176-177. DOI: 10.1038/301176B0 |
0.367 |
|
| 1982 |
Orkin SH, Kazazian HH, Antonarakis SE, Ostrer H, Goff SC, Sexton JP. Abnormal RNA processing due to the exon mutation of beta E-globin gene. Nature. 300: 768-9. PMID 7177196 DOI: 10.1038/300768A0 |
0.597 |
|
| 1982 |
Antonarakis SE, Orkin SH, Kazazian HH, Goff SC, Boehm CD, Waber PG, Sexton JP, Ostrer H, Fairbanks VF, Chakravarti A. Evidence for multiple origins of the beta E-globin gene in Southeast Asia. Proceedings of the National Academy of Sciences of the United States of America. 79: 6608-11. PMID 6292908 DOI: 10.1073/Pnas.79.21.6608 |
0.602 |
|
| 1982 |
Antonarakis SE, Phillips JA, Kazazian HH. Genetic diseases: Diagnosis by restriction endonuclease analysis* The Journal of Pediatrics. 100: 845-856. PMID 6283049 DOI: 10.1016/S0022-3476(82)80500-3 |
0.616 |
|
| 1982 |
Orkin SH, Kazazian HH, Antonarakis SE, Goff SC, Boehm CD, Sexton JP, Waber PG, Giardina PJ. Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. Nature. 296: 627-31. PMID 6280057 DOI: 10.1038/296627A0 |
0.63 |
|
| 1982 |
Antonarakis SE, Boehm CD, Giardina PJV, Kazazian HH. Nonrandom association of polymorphic restriction sites in the β-globin gene cluster Proceedings of the National Academy of Sciences of the United States of America. 79: 137-141. PMID 6275383 DOI: 10.1073/Pnas.79.1.137 |
0.6 |
|
| 1980 |
Phillips JA, Panny SR, Kazazian HH, Boehm CD, Scott AF, Smith KD. Prenatal diagnosis of sickle cell anemia by restriction and endonuclease analysis: HindIII polymorphisms in gamma-globin genes extend test applicability. Proceedings of the National Academy of Sciences of the United States of America. 77: 2853-6. PMID 6248872 DOI: 10.1073/Pnas.77.5.2853 |
0.328 |
|
| 1980 |
Kazazian H, Phillips Jd, Boehm C, Vik T, Mahoney M, Ritchey A. Prenatal diagnosis of beta-thalassemias by amniocentesis: linkage analysis using multiple polymorphic restriction endonuclease sites. Blood. 56: 926-930. DOI: 10.1182/Blood.V56.5.926.926 |
0.323 |
|
| 1979 |
Phillips Jd, Scott A, Smith K, Young K, Lightbody K, Jiji R, Kazazian H. A molecular basis for hemoglobin-H disease in American blacks. Blood. 54: 1439-1445. DOI: 10.1182/Blood.V54.6.1439.1439 |
0.327 |
|
| 1965 |
Kazazian H, Young WJ, Childs B. X-linked 6-phosphogluconate dehydrogenase in drosophila: subunit associations. Science. 150: 1601-1602. PMID 5866658 DOI: 10.1126/Science.150.3703.1601 |
0.304 |
|
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