Year |
Citation |
Score |
2020 |
Cantsilieris S, Sunkin SM, Johnson ME, Anaclerio F, Huddleston J, Baker C, Dougherty ML, Underwood JG, Sulovari A, Hsieh P, Mao Y, Catacchio CR, Malig M, Welch AE, Sorensen M, et al. An evolutionary driver of interspersed segmental duplications in primates. Genome Biology. 21: 202. PMID 32778141 DOI: 10.1186/S13059-020-02074-4 |
0.578 |
|
2020 |
Malig M, Chedin F. Characterization of R-Loop Structures Using Single-Molecule R-Loop Footprinting and Sequencing. Methods in Molecular Biology (Clifton, N.J.). 2161: 209-228. PMID 32681515 DOI: 10.1007/978-1-0716-0680-3_15 |
0.32 |
|
2017 |
Dennis MY, Harshman L, Nelson BJ, Penn O, Cantsilieris S, Huddleston J, Antonacci F, Penewit K, Denman L, Raja A, Baker C, Mark K, Malig M, Janke N, Espinoza C, et al. The evolution and population diversity of human-specific segmental duplications. Nature Ecology & Evolution. 1: 69. PMID 28812736 DOI: 10.1038/s41559-016-0069 |
0.656 |
|
2017 |
Dennis MY, Harshman L, Nelson BJ, Penn O, Cantsilieris S, Huddleston J, Antonacci F, Penewit K, Denman L, Raja A, Baker C, Mark K, Malig M, Janke N, Espinoza C, et al. The evolution and population diversity of human-specific segmental duplications. Nature Ecology & Evolution. 1. PMID 28580430 DOI: 10.1038/S41559-016-0069 |
0.679 |
|
2017 |
Tolomeo D, Capozzi O, Stanyon RR, Archidiacono N, D'Addabbo P, Catacchio CR, Purgato S, Perini G, Schempp W, Huddleston J, Malig M, Eichler EE, Rocchi M. Epigenetic origin of evolutionary novel centromeres. Scientific Reports. 7: 41980. PMID 28155877 DOI: 10.1038/Srep41980 |
0.631 |
|
2016 |
Nuttle X, Giannuzzi G, Duyzend MH, Schraiber JG, Narvaiza I, Sudmant PH, Penn O, Chiatante G, Malig M, Huddleston J, Benner C, Camponeschi F, Ciofi-Baffoni S, Stessman HA, Marchetto MC, et al. Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility. Nature. PMID 27487209 DOI: 10.1038/Nature19075 |
0.674 |
|
2016 |
Rafati N, Andersson LS, Mikko S, Feng C, Raudsepp T, Pettersson J, Janecka J, Wattle O, Ameur A, Thyreen G, Eberth J, Huddleston J, Malig M, Bailey E, Eichler EE, et al. Large Deletions at the SHOX Locus in the Pseudoautosomal Region Are Associated with Skeletal Atavism in Shetland Ponies. G3 (Bethesda, Md.). PMID 27207956 DOI: 10.1534/G3.116.029645 |
0.641 |
|
2016 |
Gordon D, Huddleston J, Chaisson MJ, Hill CM, Kronenberg ZN, Munson KM, Malig M, Raja A, Fiddes I, Hillier LW, Dunn C, Baker C, Armstrong J, Diekhans M, Paten B, et al. Long-read sequence assembly of the gorilla genome. Science (New York, N.Y.). 352: aae0344. PMID 27034376 DOI: 10.1126/Science.Aae0344 |
0.64 |
|
2015 |
Chen J, Huddleston J, Buckley RM, Malig M, Lawhon SD, Skow LC, Lee MO, Eichler EE, Andersson L, Womack JE. Bovine NK-lysin: Copy number variation and functional diversification. Proceedings of the National Academy of Sciences of the United States of America. PMID 26668394 DOI: 10.1073/Pnas.1519374113 |
0.519 |
|
2015 |
Sudmant PH, Rausch T, Gardner EJ, Handsaker RE, Abyzov A, Huddleston J, Zhang Y, Ye K, Jun G, Hsi-Yang Fritz M, Konkel MK, Malhotra A, Stütz AM, Shi X, Paolo Casale F, ... ... Malig M, et al. An integrated map of structural variation in 2,504 human genomes. Nature. 526: 75-81. PMID 26432246 DOI: 10.1038/Nature15394 |
0.654 |
|
2015 |
Chaisson MJ, Huddleston J, Dennis MY, Sudmant PH, Malig M, Hormozdiari F, Antonacci F, Surti U, Sandstrom R, Boitano M, Landolin JM, Stamatoyannopoulos JA, Hunkapiller MW, Korlach J, Eichler EE. Resolving the complexity of the human genome using single-molecule sequencing. Nature. 517: 608-11. PMID 25383537 DOI: 10.1038/Nature13907 |
0.669 |
|
2015 |
Watson CT, Steinberg KM, Graves TA, Warren RL, Malig M, Schein J, Wilson RK, Holt RA, Eichler EE, Breden F. Sequencing of the human IG light chain loci from a hydatidiform mole BAC library reveals locus-specific signatures of genetic diversity. Genes and Immunity. 16: 24-34. PMID 25338678 DOI: 10.1038/Gene.2014.56 |
0.647 |
|
2014 |
Antonacci F, Dennis MY, Huddleston J, Sudmant PH, Steinberg KM, Rosenfeld JA, Miroballo M, Graves TA, Vives L, Malig M, Denman L, Raja A, Stuart A, Tang J, Munson B, et al. Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability. Nature Genetics. 46: 1293-302. PMID 25326701 DOI: 10.1038/Ng.3120 |
0.559 |
|
2014 |
Campbell CD, Mohajeri K, Malig M, Hormozdiari F, Nelson B, Du G, Patterson KM, Eng C, Torgerson DG, Hu D, Herman C, Chong JX, Ko A, O'Roak BJ, Krumm N, et al. Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma. Plos One. 9: e104396. PMID 25116239 DOI: 10.1371/Journal.Pone.0104396 |
0.596 |
|
2014 |
Huddleston J, Ranade S, Malig M, Antonacci F, Chaisson M, Hon L, Sudmant PH, Graves TA, Alkan C, Dennis MY, Wilson RK, Turner SW, Korlach J, Eichler EE. Reconstructing complex regions of genomes using long-read sequencing technology. Genome Research. 24: 688-96. PMID 24418700 DOI: 10.1101/Gr.168450.113 |
0.646 |
|
2013 |
Giannuzzi G, Pazienza M, Huddleston J, Antonacci F, Malig M, Vives L, Eichler EE, Ventura M. Hominoid fission of chromosome 14/15 and the role of segmental duplications. Genome Research. 23: 1763-73. PMID 24077392 DOI: 10.1101/Gr.156240.113 |
0.542 |
|
2013 |
Hormozdiari F, Konkel MK, Prado-Martinez J, Chiatante G, Herraez IH, Walker JA, Nelson B, Alkan C, Sudmant PH, Huddleston J, Catacchio CR, Ko A, Malig M, Baker C, et al. Rates and patterns of great ape retrotransposition. Proceedings of the National Academy of Sciences of the United States of America. 110: 13457-62. PMID 23884656 DOI: 10.1073/Pnas.1310914110 |
0.569 |
|
2013 |
Sudmant PH, Huddleston J, Catacchio CR, Malig M, Hillier LW, Baker C, Mohajeri K, Kondova I, Bontrop RE, Persengiev S, Antonacci F, Ventura M, Prado-Martinez J, Marques-Bonet T, et al. Evolution and diversity of copy number variation in the great ape lineage. Genome Research. 23: 1373-82. PMID 23825009 DOI: 10.1101/Gr.158543.113 |
0.676 |
|
2013 |
Prado-Martinez J, Sudmant PH, Kidd JM, Li H, Kelley JL, Lorente-Galdos B, Veeramah KR, Woerner AE, O'Connor TD, Santpere G, Cagan A, Theunert C, Casals F, Laayouni H, Munch K, ... ... Malig M, et al. Great ape genetic diversity and population history. Nature. 499: 471-5. PMID 23823723 DOI: 10.1038/Nature12228 |
0.565 |
|
2013 |
Watson CT, Steinberg KM, Huddleston J, Warren RL, Malig M, Schein J, Willsey AJ, Joy JB, Scott JK, Graves TA, Wilson RK, Holt RA, Eichler EE, Breden F. Complete haplotype sequence of the human immunoglobulin heavy-chain variable, diversity, and joining genes and characterization of allelic and copy-number variation. American Journal of Human Genetics. 92: 530-46. PMID 23541343 DOI: 10.1016/J.Ajhg.2013.03.004 |
0.691 |
|
2013 |
Girirajan S, Dennis MY, Baker C, Malig M, Coe BP, Campbell CD, Mark K, Vu TH, Alkan C, Cheng Z, Biesecker LG, Bernier R, Eichler EE. Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. American Journal of Human Genetics. 92: 221-37. PMID 23375656 DOI: 10.1016/J.Ajhg.2012.12.016 |
0.587 |
|
2013 |
Giannuzzi G, Siswara P, Malig M, Marques-Bonet T, Mullikin JC, Ventura M, Eichler EE. Evolutionary dynamism of the primate LRRC37 gene family. Genome Research. 23: 46-59. PMID 23064749 DOI: 10.1101/Gr.138842.112 |
0.633 |
|
2012 |
Campbell CD, Chong JX, Malig M, Ko A, Dumont BL, Han L, Vives L, O'Roak BJ, Sudmant PH, Shendure J, Abney M, Ober C, Eichler EE. Estimating the human mutation rate using autozygosity in a founder population. Nature Genetics. 44: 1277-81. PMID 23001126 DOI: 10.1038/Ng.2418 |
0.54 |
|
2012 |
Steinberg KM, Antonacci F, Sudmant PH, Kidd JM, Campbell CD, Vives L, Malig M, Scheinfeldt L, Beggs W, Ibrahim M, Lema G, Nyambo TB, Omar SA, Bodo JM, Froment A, et al. Structural diversity and African origin of the 17q21.31 inversion polymorphism. Nature Genetics. 44: 872-80. PMID 22751100 DOI: 10.1038/Ng.2335 |
0.495 |
|
2012 |
Krumm N, Sudmant PH, Ko A, O'Roak BJ, Malig M, Coe BP, Quinlan AR, Nickerson DA, Eichler EE. Copy number variation detection and genotyping from exome sequence data. Genome Research. 22: 1525-32. PMID 22585873 DOI: 10.1101/Gr.138115.112 |
0.633 |
|
2012 |
Dennis MY, Nuttle X, Sudmant PH, Antonacci F, Graves TA, Nefedov M, Rosenfeld JA, Sajjadian S, Malig M, Kotkiewicz H, Curry CJ, Shafer S, Shaffer LG, de Jong PJ, Wilson RK, et al. Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication. Cell. 149: 912-22. PMID 22559943 DOI: 10.1016/J.Cell.2012.03.033 |
0.638 |
|
2012 |
O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature. 485: 246-50. PMID 22495309 DOI: 10.1038/Nature10989 |
0.537 |
|
2011 |
Ventura M, Catacchio CR, Alkan C, Marques-Bonet T, Sajjadian S, Graves TA, Hormozdiari F, Navarro A, Malig M, Baker C, Lee C, Turner EH, Chen L, Kidd JM, Archidiacono N, et al. Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee. Genome Research. 21: 1640-9. PMID 21685127 DOI: 10.1101/Gr.124461.111 |
0.663 |
|
2011 |
Campbell CD, Sampas N, Tsalenko A, Sudmant PH, Kidd JM, Malig M, Vu TH, Vives L, Tsang P, Bruhn L, Eichler EE. Population-genetic properties of differentiated human copy-number polymorphisms. American Journal of Human Genetics. 88: 317-32. PMID 21397061 DOI: 10.1016/J.Ajhg.2011.02.004 |
0.625 |
|
2011 |
Hormozdiari F, Alkan C, Ventura M, Hajirasouliha I, Malig M, Hach F, Yorukoglu D, Dao P, Bakhshi M, Sahinalp SC, Eichler EE. Alu repeat discovery and characterization within human genomes. Genome Research. 21: 840-9. PMID 21131385 DOI: 10.1101/Gr.115956.110 |
0.662 |
|
2010 |
Kidd JM, Graves T, Newman TL, Fulton R, Hayden HS, Malig M, Kallicki J, Kaul R, Wilson RK, Eichler EE. A human genome structural variation sequencing resource reveals insights into mutational mechanisms. Cell. 143: 837-47. PMID 21111241 DOI: 10.1016/J.Cell.2010.10.027 |
0.672 |
|
2010 |
Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J, Eichler EE. Diversity of human copy number variation and multicopy genes. Science (New York, N.Y.). 330: 641-6. PMID 21030649 DOI: 10.1126/Science.1197005 |
0.664 |
|
2010 |
Antonacci F, Kidd JM, Marques-Bonet T, Teague B, Ventura M, Girirajan S, Alkan C, Campbell CD, Vives L, Malig M, Rosenfeld JA, Ballif BC, Shaffer LG, Graves TA, Wilson RK, et al. A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk. Nature Genetics. 42: 745-50. PMID 20729854 DOI: 10.1038/Ng.643 |
0.629 |
|
2010 |
Beck CR, Collier P, Macfarlane C, Malig M, Kidd JM, Eichler EE, Badge RM, Moran JV. LINE-1 retrotransposition activity in human genomes. Cell. 141: 1159-70. PMID 20602998 DOI: 10.1016/J.Cell.2010.05.021 |
0.593 |
|
2010 |
Kidd JM, Sampas N, Antonacci F, Graves T, Fulton R, Hayden HS, Alkan C, Malig M, Ventura M, Giannuzzi G, Kallicki J, Anderson P, Tsalenko A, Yamada NA, Tsang P, et al. Characterization of missing human genome sequences and copy-number polymorphic insertions. Nature Methods. 7: 365-71. PMID 20440878 DOI: 10.1038/Nmeth.1451 |
0.667 |
|
2009 |
Alkan C, Kidd JM, Marques-Bonet T, Aksay G, Antonacci F, Hormozdiari F, Kitzman JO, Baker C, Malig M, Mutlu O, Sahinalp SC, Gibbs RA, Eichler EE. Personalized copy number and segmental duplication maps using next-generation sequencing. Nature Genetics. 41: 1061-7. PMID 19718026 DOI: 10.1038/Ng.437 |
0.658 |
|
2009 |
Cellamare A, Catacchio CR, Alkan C, Giannuzzi G, Antonacci F, Cardone MF, Della Valle G, Malig M, Rocchi M, Eichler EE, Ventura M. New insights into centromere organization and evolution from the white-cheeked gibbon and marmoset. Molecular Biology and Evolution. 26: 1889-900. PMID 19429672 DOI: 10.1093/Molbev/Msp101 |
0.609 |
|
2008 |
Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, Graves T, Hansen N, Teague B, Alkan C, Antonacci F, Haugen E, Zerr T, Yamada NA, Tsang P, Newman TL, ... ... Malig M, et al. Mapping and sequencing of structural variation from eight human genomes. Nature. 453: 56-64. PMID 18451855 DOI: 10.1038/Nature06862 |
0.676 |
|
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