-
1
-
-
70350221909
-
Copy number variation in human health, disease, and evolution
-
Zhang, F., Gu, W., Hurles, M. E. & Lupski, J. R. Copy number variation in human health, disease, and evolution. Annu. Rev. Genomics Hum. Genet. 10, 451-481 (2009).
-
(2009)
Annu. Rev. Genomics Hum. Genet.
, vol.10
, pp. 451-481
-
-
Zhang, F.1
Gu, W.2
Hurles, M.E.3
Lupski, J.R.4
-
2
-
-
0036468807
-
Genome architecture, rearrangements and genomic disorders
-
Stankiewicz, P. & Lupski, J. R. Genome architecture, rearrangements and genomic disorders. Trends Genet. 18, 74-82 (2002).
-
(2002)
Trends Genet.
, vol.18
, pp. 74-82
-
-
Stankiewicz, P.1
Lupski, J.R.2
-
3
-
-
62649088108
-
Population analysis of large copy number variants and hotspots of human genetic disease
-
Itsara, A., Cooper, GM., Baker, C., Girirajan, S., Li, J., Absher, D. et al. Population analysis of large copy number variants and hotspots of human genetic disease. Am. J. Hum. Genet. 84, 148-161 (2009).
-
(2009)
Am. J. Hum. Genet.
, vol.84
, pp. 148-161
-
-
Itsara, A.1
Cooper, G.M.2
Baker, C.3
Girirajan, S.4
Li, J.5
Absher, D.6
-
4
-
-
77957737256
-
Identification of copy number variation hotspots in human populations
-
Fu, W., Zhang, F., Wang, Y., Gu, X. & Jin, L. Identification of copy number variation hotspots in human populations. Am. J. Hum. Genet. 87, 494-504 (2010).
-
(2010)
Am. J. Hum. Genet.
, vol.87
, pp. 494-504
-
-
Fu, W.1
Zhang, F.2
Wang, Y.3
Gu, X.4
Jin, L.5
-
5
-
-
80053908833
-
Frequency of nonallelic homologous recombination is correlated with length of homology: Evidence that ectopic synapsis precedes ectopic crossing-over
-
Liu, P., Lacaria, M., Zhang, F., Withers, M, Hastings, P. J., Lupski, J. R. et al. 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).
-
(2011)
Am. J. Hum. Genet.
, vol.89
, pp. 580-588
-
-
Liu, P.1
Lacaria, M.2
Zhang, F.3
Withers, M.4
Hastings, P.J.5
Lupski, J.R.6
-
6
-
-
0037047628
-
Recent segmental duplications in the human genome
-
Bailey, J. A., Gu, Z., Clark, R. A., Reinert, K., Samonte, R. V., Schwartz, S. et al. Recent segmental duplications in the human genome. Science 297, 1003-1007 (2002).
-
(2002)
Science
, vol.297
, pp. 1003-1007
-
-
Bailey, J.A.1
Gu, Z.2
Clark, R.A.3
Reinert, K.4
Samonte, R.V.5
Schwartz, S.6
-
7
-
-
78651379303
-
Structural variation of the human genome: Mechanisms, assays, and role in male infertility
-
Carvalho, C. M., Zhang, F. & Lupski, J. R. Structural variation of the human genome: mechanisms, assays, and role in male infertility. Syst. Biol. Reprod. Med. 57, 3-16 (2011).
-
(2011)
Syst. Biol. Reprod. Med.
, vol.57
, pp. 3-16
-
-
Carvalho, C.M.1
Zhang, F.2
Lupski, J.R.3
-
8
-
-
0034703178
-
Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses
-
Sun, C., Skaletsky, H., Rozen, S., Gromoll, J., Nieschlag, E., Oates, R. et al. Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses. Hum. Mol. Genet. 9, 2291-2296 (2000).
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 2291-2296
-
-
Sun, C.1
Skaletsky, H.2
Rozen, S.3
Gromoll, J.4
Nieschlag, E.5
Oates, R.6
-
9
-
-
0036782130
-
Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure
-
Repping, S., Skaletsky, H., Lange, J., Silber, S., Van der Veen, F., Oates, R. D. et al. Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am. J. Hum. Genet. 71, 906-922 (2002).
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 906-922
-
-
Repping, S.1
Skaletsky, H.2
Lange, J.3
Silber, S.4
Der Veen, F.5
Oates, R.D.6
-
10
-
-
0035184973
-
The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men
-
Kuroda-Kawaguchi, T., Skaletsky, H., Brown, L. G., Minx, P. J., Cordum, H. S., Waterston, R. H. et al. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat. Genet. 29, 279-286 (2001).
-
(2001)
Nat. Genet.
, vol.29
, pp. 279-286
-
-
Kuroda-Kawaguchi, T.1
Skaletsky, H.2
Brown, L.G.3
Minx, P.J.4
Cordum, H.S.5
Waterston, R.H.6
-
11
-
-
70350134445
-
MEIG1 is essential for spermiogenesis in mice
-
Zhang, Z., Shen, X., Gude, DR., Wilkinson, BM., Justice, MJ., Flickinger, CJ. et al. MEIG1 is essential for spermiogenesis in mice. Proc. Natl Acad. Sci. USA. 106, 17055-17060 (2009).
-
(2009)
Proc. Natl Acad. Sci. USA
, vol.106
, pp. 17055-17060
-
-
Zhang, Z.1
Shen, X.2
Gude, D.R.3
Wilkinson, B.M.4
Justice, M.J.5
Flickinger, C.J.6
-
12
-
-
74749101632
-
Meig1 deficiency causes a severe defect in mouse spermatogenesis
-
Salzberg, Y., Eldar, T., Karminsky, O. D., Itach, S. B., Pietrokovski, S., Don, J. et al. Meig1 deficiency causes a severe defect in mouse spermatogenesis. Dev. Biol. 338, 158-167 (2010).
-
(2010)
Dev. Biol.
, vol.338
, pp. 158-167
-
-
Salzberg, Y.1
Eldar, T.2
Karminsky, O.D.3
Itach, S.B.4
Pietrokovski, S.5
Don, J.6
-
13
-
-
61849119167
-
The b2/b3 subdeletion shows higher risk of spermatogenic failure and higher frequency of complete AZFc deletion than the gr/gr subdeletion in a Chinese population
-
Lu, C., Zhang, J., Li, Y., Xia, Y., Zhang, F., Wu, B. et al. The b2/b3 subdeletion shows higher risk of spermatogenic failure and higher frequency of complete AZFc deletion than the gr/gr subdeletion in a Chinese population. Hum. Mol. Genet. 18, 1122-1130 (2009).
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 1122-1130
-
-
Lu, C.1
Zhang, J.2
Li, Y.3
Xia, Y.4
Zhang, F.5
Wu, B.6
-
14
-
-
67649878596
-
The DNA replication FoSTeS/MMBIR mechanism can generate human genomic, genic, and exonic complex rearrangements
-
Zhang, F., Khajavi, M., Connolly, A. M., Towne, C. F., Batish, S. D., Lupski, J. R. et al. The DNA replication FoSTeS/MMBIR mechanism can generate human genomic, genic, and exonic complex rearrangements. Nat. Genet. 41, 849-853 (2009).
-
(2009)
Nat. Genet.
, vol.41
, pp. 849-853
-
-
Zhang, F.1
Khajavi, M.2
Connolly, A.M.3
Towne, C.F.4
Batish, S.D.5
Lupski, J.R.6
-
15
-
-
0035917489
-
Artemis, a novel DNA double-strand break repair/V (D) J recombination protein, is mutated in human severe combined immune deficiency
-
Moshous, D., Callebaut, I., de Chasseval, R., Corneo, B., Cavazzana-Calvo, M., Le Deist, F. et al. Artemis, a novel DNA double-strand break repair/V (D) J recombination protein, is mutated in human severe combined immune deficiency. Cell 105, 177-186 (2001).
-
(2001)
Cell
, vol.105
, pp. 177-186
-
-
Moshous, D.1
Callebaut, I.2
De Chasseval, R.3
Corneo, B.4
Cavazzana-Calvo, M.5
Deist, F.6
-
16
-
-
75149180100
-
The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events
-
Pannicke, U., Hönig, M., Schulze, I., Rohr, J., Heinz, G. A., Braun, S. et al. The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events. Hum. Mutat. 31, 197-207 (2009).
-
(2009)
Hum. Mutat.
, vol.31
, pp. 197-207
-
-
Pannicke, U.1
Hönig, M.2
Schulze, I.3
Rohr, J.4
Heinz, G.A.5
Braun, S.6
-
17
-
-
34447324101
-
Partial deletions are associated with an increased risk of complete deletion in AZFc: A new insight into the role of partial AZFc deletions in male infertility
-
Zhang, F., Lu, C., Li, Z., Xie, P., Xia, Y., Zhu, X, et al. Partial deletions are associated with an increased risk of complete deletion in AZFc: a new insight into the role of partial AZFc deletions in male infertility. J. Med. Genet. 44, 437-444 (2007).
-
(2007)
J. Med. Genet
, vol.44
, pp. 437-444
-
-
Zhang, F.1
Lu, C.2
Li, Z.3
Xie, P.4
Xia, Y.5
Zhu, X.6
-
18
-
-
33847390726
-
Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats
-
Armour, J. A., Palla, R., Zeeuwen, P. L., den Heijer, M., Schalkwijk, J., Hollox, E. J. et al. Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats. Nucleic Acids Res. 35, e19 (2007).
-
(2007)
Nucleic Acids Res.
, vol.35
-
-
Armour, J.A.1
Palla, R.2
Zeeuwen, P.L.3
Heijer, D.M.4
Schalkwijk, J.5
Hollox, E.J.6
-
19
-
-
3543023204
-
Relative quantification of 40 nucleic acid sequences by multiplex ligationdependent probe amplification
-
Schouten, J. P., McElgunn, C. J., Waaijer, R., Zwijnenburg, D., Diepvens, F., Pals, G. et al. Relative quantification of 40 nucleic acid sequences by multiplex ligationdependent probe amplification. Nucleic Acids Res. 30, e57 (2002).
-
(2002)
Nucleic Acids Res.
, vol.30
-
-
Schouten, J.P.1
McElgunn, C.J.2
Waaijer, R.3
Zwijnenburg, D.4
Diepvens, F.5
Pals, G.6
-
20
-
-
64349108121
-
Designing a simple multiplex ligation-dependent probe amplification (MLPA) assay for rapid detection of copy number variants in the genome
-
Shen, Y. & Wu, B. L. Designing a simple multiplex ligation-dependent probe amplification (MLPA) assay for rapid detection of copy number variants in the genome. J. Genet. Genomics 36, 257-265 (2009).
-
(2009)
J. Genet. Genomics
, vol.36
, pp. 257-265
-
-
Shen, Y.1
Wu, B.L.2
-
21
-
-
7244245762
-
Finishing the euchromatic sequence of the human genome
-
International Human Genome Sequencing Consortium
-
International Human Genome Sequencing Consortium. Finishing the euchromatic sequence of the human genome. Nature 431, 931-945 (2004).
-
(2004)
Nature
, vol.431
, pp. 931-945
-
-
-
22
-
-
33745373606
-
Primate segmental duplications: Crucibles of evolution, diversity and disease
-
Bailey, J. A. & Eichler, E. E. Primate segmental duplications: crucibles of evolution, diversity and disease. Nat. Rev. Genet. 7, 552-564 (2006).
-
(2006)
Nat. Rev. Genet.
, vol.7
, pp. 552-564
-
-
Bailey, J.A.1
Eichler, E.E.2
-
23
-
-
33745244299
-
Human genomic deletions mediated by recombination between Alu elements
-
Sen, S. K., Han, K., Wang, J., Lee, J., Wang, H., Callinan, P. A. et al. Human genomic deletions mediated by recombination between Alu elements. Am. J. Hum. Genet. 79, 41-53 (2006).
-
(2006)
Am. J. Hum. Genet.
, vol.79
, pp. 41-53
-
-
Sen, S.K.1
Han, K.2
Wang, J.3
Lee, J.4
Wang, H.5
Callinan, P.A.6
-
24
-
-
35948983427
-
Alu recombination-mediated structural deletions in the chimpanzee genome
-
Han, K., Lee, J., Meyer, T. J., Wang, J., Sen, S. K., Srikanta, D. et al. Alu recombination-mediated structural deletions in the chimpanzee genome. PLoS Genet. 3, 1939-1949 (2007).
-
(2007)
PLoS Genet.
, vol.3
, pp. 1939-1949
-
-
Han, K.1
Lee, J.2
Meyer, T.J.3
Wang, J.4
Sen, S.K.5
Srikanta, D.6
-
25
-
-
35348988679
-
Paired-end mapping reveals extensive structural variation in the human genome
-
Korbel, J. O., Urban, A. E., Affourtit, J. P., Godwin, B., Grubert, F., Simons, J. F et al. Paired-end mapping reveals extensive structural variation in the human genome. Science 318, 420-426 (2007).
-
(2007)
Science
, vol.318
, pp. 420-426
-
-
Korbel, J.O.1
Urban, A.E.2
Affourtit, J.P.3
Godwin, B.4
Grubert, F.5
Simons, J.F.6
-
26
-
-
37549018501
-
Germline rates of de novo meiotic deletions and duplications causing several genomic disorders
-
Turner, D. J., Miretti, M., Rajan, D., Fiegler, H, Carter, N. P., Blayney, M. L. et al. Germline rates of de novo meiotic deletions and duplications causing several genomic disorders. Nat. Genet. 40, 90-95 (2008).
-
(2008)
Nat. Genet.
, vol.40
, pp. 90-95
-
-
Turner, D.J.1
Miretti, M.2
Rajan, D.3
Fiegler, H.4
Carter, N.P.5
Blayney, M.L.6
-
27
-
-
39749197456
-
Genotype, haplotype and copy-number variation in worldwide human populations
-
Jakobsson, M., Scholz, S. W., Scheet, P., Gibbs, J. R., VanLiere, J. M., Fung, H. C. et al. Genotype, haplotype and copy-number variation in worldwide human populations. Nature 451, 998-1003 (2008).
-
(2008)
Nature
, vol.451
, pp. 998-1003
-
-
Jakobsson, M.1
Scholz, S.W.2
Scheet, P.3
Gibbs, J.R.4
VanLiere, J.M.5
Fung, H.C.6
-
28
-
-
69749121852
-
Highresolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications
-
Shaikh, T. H., Gai, X., Perin, J. C., Glessner, J. T., Xie, H., Murphy, K et al. Highresolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res. 19, 1682-1690 (2009).
-
(2009)
Genome Res.
, vol.19
, pp. 1682-1690
-
-
Shaikh, T.H.1
Gai, X.2
Perin, J.C.3
Glessner, J.T.4
Xie, H.5
Murphy, K.6
-
29
-
-
77951719393
-
Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing
-
Park, H., Kim, J. I., Ju, Y. S., Gokcumen, O., Mills, R. E., Kim, S. et al. Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing. Nat. Genet. 42, 400-405 (2010).
-
(2010)
Nat. Genet.
, vol.42
, pp. 400-405
-
-
Park, H.1
Kim, J.I.2
Ju, Y.S.3
Gokcumen, O.4
Mills, R.E.5
Kim, S.6
|