Year |
Citation |
Score |
2024 |
Schwartz CE, Aylsworth AS, Allanson J, Battaglia A, Carey JC, Curry CJ, Davies KE, Eichler EE, Graham JM, Hall B, Hall JG, Holmes LB, Hoyme HE, Hunter A, Innis J, ... ... Nelson DL, et al. Personal journeys to and in human genetics and dysmorphology. American Journal of Medical Genetics. Part A. e63514. PMID 38329159 DOI: 10.1002/ajmg.a.63514 |
0.412 |
|
2021 |
Nelson DL, Caskey CT. Stephen T. Warren: Human geneticist who advanced understanding of mutational mechanisms and developmental disorders. Proceedings of the National Academy of Sciences of the United States of America. 118. PMID 34417305 DOI: 10.1073/pnas.2112969118 |
0.405 |
|
2013 |
Amemiya CT, Alföldi J, Lee AP, Fan S, Philippe H, Maccallum I, Braasch I, Manousaki T, Schneider I, Rohner N, Organ C, Chalopin D, Smith JJ, Robinson M, Dorrington RA, ... ... Nelson DR, et al. The African coelacanth genome provides insights into tetrapod evolution. Nature. 496: 311-6. PMID 23598338 DOI: 10.1038/Nature12027 |
0.461 |
|
2012 |
Nagamani SC, Erez A, Probst FJ, Bader P, Evans P, Baker LA, Fang P, Bertin T, Hixson P, Stankiewicz P, Nelson D, Patel A, Cheung SW. Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function. Neurogenetics. 13: 333-9. PMID 22890812 DOI: 10.1007/S10048-012-0340-Y |
0.398 |
|
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, ... ... Nelson DL, 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 |
0.587 |
|
2007 |
Jones IM, Thomas CB, Xi T, Mohrenweiser HW, Nelson DO. Exploration of methods to identify polymorphisms associated with variation in DNA repair capacity phenotypes. Mutation Research. 616: 213-20. PMID 17145065 DOI: 10.1016/j.mrfmmm.2006.11.005 |
0.531 |
|
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, ... ... Nelson D, et al. The DNA sequence, annotation and analysis of human chromosome 3. Nature. 440: 1194-8. PMID 16641997 DOI: 10.1038/Nature04728 |
0.374 |
|
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, ... ... Nelson D, et al. The finished DNA sequence of human chromosome 12. Nature. 440: 346-51. PMID 16541075 DOI: 10.1038/Nature04569 |
0.373 |
|
2001 |
Kirkpatrick LL, McIlwain KA, Nelson DL. Comparative genomic sequence analysis of the FXR gene family: FMR1, FXR1, and FXR2. Genomics. 78: 169-77. PMID 11735223 DOI: 10.1006/geno.2001.6667 |
0.3 |
|
2001 |
Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K, Doyle M, FitzHugh W, Funke R, Gage D, Harris K, Heaford A, Howland J, ... ... Nelson DL, et al. Initial sequencing and analysis of the human genome. Nature. 409: 860-921. PMID 11237011 DOI: 10.1038/35057062 |
0.563 |
|
2000 |
Fryns JP, Borghgraef M, Brown TW, Chelly J, Fisch GS, Hamel B, Hanauer A, Lacombe D, Luo L, MacPherson JN, Mandel JL, Moraine C, Mulley J, Nelson D, Oostra B, et al. 9th international workshop on fragile X syndrome and X-linked mental retardation. American Journal of Medical Genetics. 94: 345-60. PMID 11050616 DOI: 10.1002/1096-8628(20001023)94:5<345::Aid-Ajmg1>3.0.Co;2-Z |
0.313 |
|
1999 |
Kirkpatrick LL, McIlwain KA, Nelson DL. Alternative splicing in the murine and human FXR1 genes. Genomics. 59: 193-202. PMID 10409431 DOI: 10.1006/geno.1999.5868 |
0.304 |
|
1999 |
Zhong N, Ju W, Nelson D, Dobkin C, Brown WT. Reduced mRNA for G3BP in fragile X cells: Evidence of FMR1 gene regulation American Journal of Medical Genetics. 84: 268-271. PMID 10331605 DOI: 10.1002/(SICI)1096-8628(19990528)84:3<268::AID-AJMG20>3.0.CO;2-# |
0.351 |
|
1998 |
Pearson CE, Eichler EE, Lorenzetti D, Kramer SF, Zoghbi HY, Nelson DL, Sinden RR. Interruptions in the triplet repeats of SCA1 and FRAXA reduce the propensity and complexity of slipped strand DNA (S-DNA) formation. Biochemistry. 37: 2701-8. PMID 9485421 DOI: 10.1021/Bi972546C |
0.413 |
|
1997 |
Eichler EE, Budarf ML, Rocchi M, Deaven LL, Doggett NA, Baldini A, Nelson DL, Mohrenweiser HW. Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity. Human Molecular Genetics. 6: 991-1002. PMID 9215666 DOI: 10.1093/hmg/6.7.991 |
0.65 |
|
1997 |
Falik-Zaccai TC, Shachak E, Yalon M, Lis Z, Borochowitz Z, Macpherson JN, Nelson DL, Eichler EE. Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype. American Journal of Human Genetics. 60: 103-12. PMID 8981953 |
0.484 |
|
1996 |
Eichler EE, Macpherson JN, Murray A, Jacobs PA, Chakravarti A, Nelson DL. Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome. Human Molecular Genetics. 5: 319-30. PMID 8852655 DOI: 10.1093/Hmg/5.3.319 |
0.518 |
|
1996 |
Eichler EE, Nelson DL. Genetic variation and evolutionary stability of the FMR1 CGG repeat in six closed human populations. American Journal of Medical Genetics. 64: 220-5. PMID 8826480 DOI: 10.1002/(SICI)1096-8628(19960712)64:1<220::AID-AJMG40>3.0.CO;2-M |
0.459 |
|
1996 |
Eichler EE, Lu F, Shen Y, Antonacci R, Jurecic V, Doggett NA, Moyzis RK, Baldini A, Gibbs RA, Nelson DL. Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution. Human Molecular Genetics. 5: 899-912. PMID 8817324 DOI: 10.1093/Hmg/5.7.899 |
0.545 |
|
1996 |
Kunst CB, Zerylnick C, Karickhoff L, Eichler E, Bullard J, Chalifoux M, Holden JJ, Torroni A, Nelson DL, Warren ST. FMR1 in global populations. American Journal of Human Genetics. 58: 513-22. PMID 8644711 |
0.505 |
|
1995 |
Eichler EE, Hammond HA, Macpherson JN, Ward PA, Nelson DL. Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions. Human Molecular Genetics. 4: 2199-208. PMID 8634688 |
0.489 |
|
1995 |
Chastain PD, Eichler EE, Kang S, Nelson DL, Levene SD, Sinden RR. Anomalous rapid electrophoretic mobility of DNA containing triplet repeats associated with human disease genes. Biochemistry. 34: 16125-31. PMID 8519769 DOI: 10.1021/Bi00049A027 |
0.498 |
|
1995 |
Eichler EE, Kunst CB, Lugenbeel KA, Ryder OA, Davison D, Warren ST, Nelson DL. Evolution of the cryptic FMR1 CGG repeat. Nature Genetics. 11: 301-8. PMID 7581454 DOI: 10.1038/Ng1195-301 |
0.47 |
|
1995 |
Bailey DB, Nelson D. The nature and consequences of fragile X syndrome Mental Retardation and Developmental Disabilities Research Reviews. 1: 238-244. DOI: 10.1002/Mrdd.1410010403 |
0.344 |
|
1995 |
Bailey DB, Nelson D. Overview: Fragile X syndrome Mental Retardation and Developmental Disabilities Research Reviews. 1: 237-237. DOI: 10.1002/Mrdd.1410010402 |
0.317 |
|
1994 |
Eichler EE, Richards S, Gibbs RA, Nelson DL. Fine structure of the human FMR1 gene. Human Molecular Genetics. 3: 684-5. PMID 8069329 |
0.448 |
|
1994 |
Eichler EE, Holden JJ, Popovich BW, Reiss AL, Snow K, Thibodeau SN, Richards CS, Ward PA, Nelson DL. Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nature Genetics. 8: 88-94. PMID 7987398 DOI: 10.1038/ng0994-88 |
0.561 |
|
1994 |
Chong SS, Eichler EE, Nelson DL, Hughes MR. Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase. American Journal of Medical Genetics. 51: 522-6. PMID 7943034 DOI: 10.1002/ajmg.1320510447 |
0.457 |
|
1994 |
Ouweland AMwVD, Deelen WH, Kunst CB, Uzielli MLG, Nelson DL, Warren ST, Oostra BA, Halley DJJ. Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes Human Molecular Genetics. 3: 1823-1827. PMID 7849707 DOI: 10.1093/Hmg/3.10.1823 |
0.304 |
|
1993 |
Verkerk AJ, de Graaff E, De Boulle K, Eichler EE, Konecki DS, Reyniers E, Manca A, Poustka A, Willems PJ, Nelson DL. Alternative splicing in the fragile X gene FMR1. Human Molecular Genetics. 2: 399-404. PMID 8504300 DOI: 10.1093/hmg/2.4.399 |
0.525 |
|
1993 |
Hinds HL, Ashley CT, Sutcliffe JS, Nelson DL, Warren ST, Housman DE, Schalling M. Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome. Nature Genetics. 3: 36-43. PMID 8490651 DOI: 10.1038/Ng0193-36 |
0.705 |
|
1993 |
Verkerk AJ, de Graaff E, De Boulle K, Eichler EE, Konecki DS, Reyniers E, Manca A, Poustka A, Willems PJ, Nelson DL. Alternative splicing in the fragile X gene FMR1. Human Molecular Genetics. 2: 1348. PMID 8401531 |
0.499 |
|
1993 |
Eichler EE, Richards S, Gibbs RA, Nelson DL. Fine structure of the human FMR1 gene. Human Molecular Genetics. 2: 1147-53. PMID 8401496 DOI: 10.1093/Hmg/2.8.1147 |
0.56 |
|
1993 |
Ashley CT, Sutcliffe JS, Kunst CB, Leiner HA, Eichler EE, Nelson DL, Warren ST. Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat. Nature Genetics. 4: 244-51. PMID 8358432 DOI: 10.1038/Ng0793-244 |
0.547 |
|
1993 |
Hornstra LK, Nelson DL, Warren ST, Yang TP. High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome Human Molecular Genetics. 2: 1659-1665. PMID 8268919 DOI: 10.1093/hmg/2.10.1659 |
0.334 |
|
1993 |
Wang Q, Ishikawa-Brush Y, Monaco AP, Nelson DL, Caskey CT, Pauly SP, Lenoir GM, Sylla BS. Physical mapping of Xq24-25 around loci closely linked to the X-linked lymphoproliferative syndrome locus: an overlapping YAC map and linkage between DXS12, DXS42, and DXS37. European Journal of Human Genetics : Ejhg. 1: 64-71. PMID 8069652 DOI: 10.1159/000472388 |
0.462 |
|
1992 |
Riggins GJ, Sherman SL, Oostra BA, Sutcliffe JS, Feitell D, Nelson DL, Van Oost BA, Smits APT, Ramos FJ, Pfendner E, Kuhl DPA, Caskey CT, Warren ST. Characterization of a highly polymorphic dinucleotide repeat 150 kb proximal to the fragile X site American Journal of Medical Genetics. 43: 237-243. PMID 1605197 DOI: 10.1002/Ajmg.1320430138 |
0.534 |
|
1992 |
Verkerk AJ, deVries BB, Niermeijer MF, Fu YH, Nelson DL, Warren ST, Majoor-Krakauer DF, Halley DJ, Oostra BA. Intragenic probe used for diagnostics in fragile X families. American Journal of Medical Genetics. 43: 192-6. PMID 1605192 DOI: 10.1002/Ajmg.1320430132 |
0.464 |
|
1992 |
Sutcliffe JS, Zhang F, Caskey CT, Nelson DL, Warren ST. PCR amplification and analysis of yeast artificial chromosomes. Genomics. 13: 1303-6. PMID 1380485 DOI: 10.1016/0888-7543(92)90051-S |
0.516 |
|
1992 |
Sutcliffe JS, Nelson DL, Zhang F, Pieretti M, Caskey CT, Saxe D, Warren ST. DNA methylation represses FMR-1 transcription in fragile X syndrome. Human Molecular Genetics. 1: 397-400. PMID 1301913 DOI: 10.1093/hmg/1.6.397 |
0.564 |
|
1991 |
Nelson DL, Ballabio A, Victoria MF, Pieretti M, Bies RD, Gibbs RA, Maley JA, Chinault AC, Webster TD, Caskey CT. Alu-primed polymerase chain reaction for regional assignment of 110 yeast artificial chromosome clones from the human X chromosome: identification of clones associated with a disease locus. Proceedings of the National Academy of Sciences of the United States of America. 88: 6157-61. PMID 2068096 DOI: 10.1073/Pnas.88.14.6157 |
0.554 |
|
1991 |
Pieretti M, Zhang FP, Fu YH, Warren ST, Oostra BA, Caskey CT, Nelson DL. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell. 66: 817-22. PMID 1878973 DOI: 10.1016/0092-8674(91)90125-I |
0.645 |
|
1990 |
Cook-Deegan RM, Guyer M, Rossiter BJ, Nelson DL, Caskey CT. The large DNA insert cloning workshop. Genomics. 7: 654-60. PMID 2387593 DOI: 10.1016/0888-7543(90)90215-G |
0.435 |
|
1990 |
Cook-Deegan RM, Rossiter BJ, Engel L, Nelson DL, Caskey CT. Report of the X chromosome workshop. Genomics. 7: 647-54. PMID 2387592 DOI: 10.1016/0888-7543(90)90214-F |
0.495 |
|
1990 |
Corbo L, Maley JA, Nelson DL, Caskey CT. Direct cloning of human transcripts with HnRNA from hybrid cell lines. Science (New York, N.Y.). 249: 652-5. PMID 2382140 DOI: 10.1126/Science.2382140 |
0.607 |
|
1989 |
Nelson DL, Ledbetter SA, Corbo L, Victoria MF, RamÃrez-Solis R, Webster TD, Ledbetter DH, Caskey CT. Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources. Proceedings of the National Academy of Sciences of the United States of America. 86: 6686-90. PMID 2771952 DOI: 10.1073/Pnas.86.17.6686 |
0.566 |
|
1987 |
Weis JH, Seidman JG, Housman DE, Nelson DL. Eucaryotic chromosome transfer: production of a murine-specific cosmid library from a neor-linked fragment of murine chromosome 17. Molecular and Cellular Biology. 6: 441-51. PMID 3023847 DOI: 10.1128/MCB.6.2.441 |
0.522 |
|
1986 |
Nelson DL, Chang SM, Henkel-Tigges J, Wager-Smith K, Belmont JW, Caskey CT. Gene replacement therapy for inborn errors of purine metabolism. Cold Spring Harbor Symposia On Quantitative Biology. 51: 1065-71. PMID 3555977 DOI: 10.1101/SQB.1986.051.01.124 |
0.477 |
|
1984 |
Weis JH, Nelson DL, Przyborski MJ, Chaplin DD, Mulligan RC, Housman DE, Seidman JG. Eukaryotic chromosome transfer: linkage of the murine major histocompatibility complex to an inserted dominant selectable marker. Proceedings of the National Academy of Sciences of the United States of America. 81: 4879-83. PMID 6589632 DOI: 10.1073/Pnas.81.15.4879 |
0.494 |
|
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