-
1
-
-
0043264447
-
Translocation and gross deletion breakpoints in humaninherited disease and cancer I:Nucleotide composition and recombination-associated motifs
-
Abeysinghe SS, Chuzhanova N, KrawczakM, Ball EV, Cooper DN. 2003. Translocation and gross deletion breakpoints in humaninherited disease and cancer I:Nucleotide composition and recombination-associated motifs. Hum Mutat 22:229-244.
-
(2003)
Hum Mutat
, vol.22
, pp. 229-244
-
-
Abeysinghe, S.S.1
Chuzhanova, N.2
Krawczak, M.3
Ball, E.V.4
Cooper, D.N.5
-
2
-
-
24344505990
-
Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity
-
Ball EV, Stenson PD, Abeysinghe SS, Krawczak M, Cooper DN, Chuzhanova NA. 2005. Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity. Hum Mutat 26:205-213.
-
(2005)
Hum Mutat
, vol.26
, pp. 205-213
-
-
Ball, E.V.1
Stenson, P.D.2
Abeysinghe, S.S.3
Krawczak, M.4
Cooper, D.N.5
Chuzhanova, N.A.6
-
3
-
-
13444269543
-
Haploview: analysis and visualization of LD and haplotype maps
-
Barrett JC, Fry B, Maller J, DalyMJ. 2005. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21:263-265.
-
(2005)
Bioinformatics
, vol.21
, pp. 263-265
-
-
Barrett, J.C.1
Fry, B.2
Maller, J.3
Daly, M.J.4
-
4
-
-
76749170346
-
PRDM9 is a major determinant of meiotic recombination hotspots in humans and mice
-
Baudat F, Buard J, Grey C, Fledel-Alon A, Ober C, Przeworski M, Coop G, de Massy B. 2010. PRDM9 is a major determinant of meiotic recombination hotspots in humans and mice. Science 327:836-840.
-
(2010)
Science
, vol.327
, pp. 836-840
-
-
Baudat, F.1
Buard, J.2
Grey, C.3
Fledel-Alon, A.4
Ober, C.5
Przeworski, M.6
Coop, G.7
de Massy, B.8
-
5
-
-
34547673378
-
Regulating double-stranded DNA break repair towards crossover or non-crossover duringmammalian meiosis
-
Baudat F, de Massy B. 2007. Regulating double-stranded DNA break repair towards crossover or non-crossover duringmammalian meiosis. ChromosomeRes 15:565-577.
-
(2007)
ChromosomeRes
, vol.15
, pp. 565-577
-
-
Baudat, F.1
de Massy, B.2
-
6
-
-
0038728033
-
Mutational mechanisms of Williams-Beuren syndrome deletions
-
Bayés M, Magano LF, Rivera N, Flores R, Pérez Jurado LA. 2003. Mutational mechanisms of Williams-Beuren syndrome deletions. Am J Hum Genet 73:131-151.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 131-151
-
-
Bayés, M.1
Magano, L.F.2
Rivera, N.3
Flores, R.4
Pérez Jurado, L.A.5
-
7
-
-
77952712186
-
Novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2
-
Bengesser K, Cooper DN, Steinmann K, Kluwe L, Chuzhanova NA, Wimmer K, Tatagiba M, Tinschert S, Mautner VF, Kehrer-Sawatzki H. 2010. Novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2. Hum Mutat 31:742-751.
-
(2010)
Hum Mutat
, vol.31
, pp. 742-751
-
-
Bengesser, K.1
Cooper, D.N.2
Steinmann, K.3
Kluwe, L.4
Chuzhanova, N.A.5
Wimmer, K.6
Tatagiba, M.7
Tinschert, S.8
Mautner, V.F.9
Kehrer-Sawatzki, H.10
-
8
-
-
77957579303
-
PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans
-
Berg IL, Neumann R, Lam KW, Sarbajna S, Odenthal-Hesse L, May CA, Jeffreys AJ. 2010. PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans. Nat Genet 42:859-863.
-
(2010)
Nat Genet
, vol.42
, pp. 859-863
-
-
Berg, I.L.1
Neumann, R.2
Lam, K.W.3
Sarbajna, S.4
Odenthal-Hesse, L.5
May, C.A.6
Jeffreys, A.J.7
-
10
-
-
0037320728
-
Duplications of the AZFa region of the human Y chromosome are mediated by homologous recombination between HERVs and are compatible with male fertility
-
Bosch E, Jobling MA. 2003. Duplications of the AZFa region of the human Y chromosome are mediated by homologous recombination between HERVs and are compatible with male fertility. Hum Mol Genet 12:341-347.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 341-347
-
-
Bosch, E.1
Jobling, M.A.2
-
11
-
-
70349659703
-
Genetic analysis of variation in human meiotic recombination
-
Chowdhury R, Bois PR, Feingold E, Sherman SL, Cheung VG. 2009. Genetic analysis of variation in human meiotic recombination. PLoS Genet 5:e1000648.
-
(2009)
PLoS Genet
, vol.5
-
-
Chowdhury, R.1
Bois, P.R.2
Feingold, E.3
Sherman, S.L.4
Cheung, V.G.5
-
12
-
-
67749099543
-
Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair
-
Chuzhanova N, Chen JM, Bacolla A, Patrinos GP, Férec C, Wells RD, Cooper DN. 2009. Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair. Hum Mutat 30:1189-1198.
-
(2009)
Hum Mutat
, vol.30
, pp. 1189-1198
-
-
Chuzhanova, N.1
Chen, J.M.2
Bacolla, A.3
Patrinos, G.P.4
Férec, C.5
Wells, R.D.6
Cooper, D.N.7
-
13
-
-
77951700086
-
Mutation spectrum revealed by breakpoint sequencing of human germline CNVs
-
Conrad DF, Bird C, Blackburne B, Lindsay S, Mamanova L, Lee C, Turner DJ, Hurles ME. 2010. Mutation spectrum revealed by breakpoint sequencing of human germline CNVs. Nat Genet 42:385-391.
-
(2010)
Nat Genet
, vol.42
, pp. 385-391
-
-
Conrad, D.F.1
Bird, C.2
Blackburne, B.3
Lindsay, S.4
Mamanova, L.5
Lee, C.6
Turner, D.J.7
Hurles, M.E.8
-
14
-
-
39449116116
-
High-resolutionmapping of crossovers reveals extensive variation in fine-scale recombination patterns among humans
-
Coop G, Wen X, Ober C, Pritchard JK, Przeworski M. 2008.High-resolutionmapping of crossovers reveals extensive variation in fine-scale recombination patterns among humans. Science 319:1395-1398.
-
(2008)
Science
, vol.319
, pp. 1395-1398
-
-
Coop, G.1
Wen, X.2
Ober, C.3
Pritchard, J.K.4
Przeworski, M.5
-
15
-
-
3042700117
-
Evidence for substantial fine-scale variation in recombination rates across the human genome
-
Crawford DC, Bhangale T, Li N, Hellenthal G, Rieder MJ, Nickerson DA, Stephens M. 2004. Evidence for substantial fine-scale variation in recombination rates across the human genome. Nat Genet 36:700-706.
-
(2004)
Nat Genet
, vol.36
, pp. 700-706
-
-
Crawford, D.C.1
Bhangale, T.2
Li, N.3
Hellenthal, G.4
Rieder, M.J.5
Nickerson, D.A.6
Stephens, M.7
-
16
-
-
0036783307
-
High-resolution patterns of meiotic recombination across the human major histocompatibility complex
-
Cullen M, Perfetto SP, Klitz W, Nelson G, Carrington M. 2002.High-resolution patterns of meiotic recombination across the human major histocompatibility complex. Am J Hum Genet 71:759-776.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 759-776
-
-
Cullen, M.1
Perfetto, S.P.2
Klitz, W.3
Nelson, G.4
Carrington, M.5
-
17
-
-
3042661993
-
Genomic organization and evolution of the NF1 microdeletion region
-
De Raedt T, Brems H, López-Correa C, Vermeesch JR, Marynen P, Legius E. 2004. Genomic organization and evolution of the NF1 microdeletion region. Genomics 84:346-360.
-
(2004)
Genomics
, vol.84
, pp. 346-360
-
-
De Raedt, T.1
Brems, H.2
López-Correa, C.3
Vermeesch, J.R.4
Marynen, P.5
Legius, E.6
-
18
-
-
33751523300
-
Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion
-
De Raedt T, StephensM, Heyns I, Brems H, Thijs D, Messiaen L, Stephens K, Lazaro C, Wimmer K, Kehrer-Sawatzki H, Vidaud D, Kluwe L, Marynen P, Legius E. 2006. Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion. Nat Genet 38:1419-1423.
-
(2006)
Nat Genet
, vol.38
, pp. 1419-1423
-
-
De Raedt, T.1
Stephens, M.2
Heyns, I.3
Brems, H.4
Thijs, D.5
Messiaen, L.6
Stephens, K.7
Lazaro, C.8
Wimmer, K.9
Kehrer-Sawatzki, H.10
Vidaud, D.11
Kluwe, L.12
Marynen, P.13
Legius, E.14
-
19
-
-
0034057657
-
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences
-
Dorschner MO, Sybert VP, Weaver M, Pletcher BA, Stephens K. 2000. NF1 microdeletion breakpoints are clustered at flanking repetitive sequences. Hum Mol Genet 9:35-46.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 35-46
-
-
Dorschner, M.O.1
Sybert, V.P.2
Weaver, M.3
Pletcher, B.A.4
Stephens, K.5
-
20
-
-
3342977799
-
Genomic context of paralogous recombination hotspots mediating recurrent NF1 region microdeletion
-
Forbes SH, Dorschner MO, Le R, Stephens K. 2004. Genomic context of paralogous recombination hotspots mediating recurrent NF1 region microdeletion. Genes Chrom Cancer 41:12-25.
-
(2004)
Genes Chrom Cancer
, vol.41
, pp. 12-25
-
-
Forbes, S.H.1
Dorschner, M.O.2
Le, R.3
Stephens, K.4
-
21
-
-
35348983887
-
A second generation human haplotype map of over 3.1 million SNPs
-
International HapMap Consortium
-
Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, Belmont JW, Boudreau A, Hardenbol P, Leal SM, Pasternak S, Wheeler DA, Willis TD, Yu F, Yang H, Zeng C, Gao Y, Hu H, HuW, Li C, Lin W, Liu S, Pan H, Tang X, Wang J, Wang W, Yu J, Zhang B, Zhang Q, Zhao H, Zhao H, Zhou J, Gabriel SB, Barry R, Blumenstiel B, Camargo A, Defelice M, Faggart M, Goyette M, Gupta S, Moore J, Nguyen H, OnofrioRC, ParkinM, Roy J, Stahl E, Winchester E, ZiaugraL, Altshuler D, Shen Y, Yao Z, Huang W, Chu X, He Y, Jin L, Liu Y, Shen Y, Sun W, Wang H, Wang Y, Wang Y, Xiong X, Xu L, Waye MM, Tsui SK, Xue H, Wong JT, Galver LM, Fan JB, GundersonK, Murray SS, Oliphant AR, CheeMS, MontpetitA, Chagnon F, Ferretti V, Leboeuf M, Olivier JF, Phillips MS, Roumy S, Sallée C, Verner A, Hudson TJ, Kwok PY, CaiD, Koboldt DC, Miller RD, Pawlikowska L, Taillon-Miller P, Xiao M, Tsui LC, Mak W, Song YQ, Tam PK, Nakamura Y, Kawaguchi T, Kitamoto T, Morizono T, Nagashima A, Ohnishi Y, Sekine A, Tanaka T, Tsunoda T, Deloukas P, Bird CP, Delgado M, Dermitzakis ET, Gwilliam R, Hunt S, Morrison J, PowellD, Stranger BE, Whittaker P, Bentley DR, Daly MJ, de Bakker PI, Barrett J, Chretien YR, Maller J, McCarroll S, PattersonN, Pe'er I, Price A, Purcell S, RichterDJ, Sabeti P, Saxena R, Schaffner SF, Sham PC, Varilly P, Altshuler D, Stein LD, Krishnan L, Smith AV, Tello-Ruiz MK, Thorisson GA, Chakravarti A, Chen PE, Cutler DJ, Kashuk CS, Lin S, Abecasis GR, Guan W, Li Y, Munro HM, Qin ZS, Thomas DJ, McVean G, Auton A, Bottolo L, Cardin N, Eyheramendy S, Freeman C, Marchini J, Myers S, Spencer C, Stephens M, Donnelly P, Cardon LR, Clarke G, Evans DM, Morris AP, Weir BS, Tsunoda T, Mullikin JC, Sherry ST, Feolo M, Skol A, Zhang H, Zeng C, Zhao H, Matsuda I, Fukushima Y, Macer DR, Suda E, Rotimi CN, Adebamowo CA, Ajayi I, Aniagwu T, Marshall PA, Nkwodimmah C, Royal CD, Leppert MF, Dixon M, Peiffer A, Qiu R, Kent A, Kato K, Niikawa N, Adewole IF, Knoppers BM, FosterMW, Clayton EW, Watkin J, Gibbs RA, Belmont JW, Muzny D, Nazareth L, Sodergren E, Weinstock GM, Wheeler DA, Yakub I, Gabriel SB, Onofrio RC, Richter DJ, Ziaugra L, Birren BW, DalyMJ, Altshuler D, Wilson RK, Fulton LL, Rogers J, Burton J, Carter NP, Clee CM, Griffiths M, JonesMC, McLay K, Plumb RW, Ross MT, Sims SK, Willey DL, Chen Z, Han H, Kang L, Godbout M, Wallenburg JC, L'Archevêque P, Bellemare G, Saeki K, Wang H, An D, Fu H, Li Q, Wang Z, Wang R, Holden AL, Brooks LD, McEwen JE, Guyer MS, Wang VO, Peterson JL, Shi M, Spiegel J, Sung LM, Zacharia LF, Collins FS, Kennedy K, Jamieson R, Stewart J. International HapMap Consortium. 2007. A second generation human haplotype map of over 3.1 million SNPs. Nature 449:851-861.
-
(2007)
Nature
, vol.449
, pp. 851-861
-
-
Frazer, K.A.1
Ballinger, D.G.2
Cox, D.R.3
Hinds, D.A.4
Stuve, L.L.5
Gibbs, R.A.6
Belmont, J.W.7
Boudreau, A.8
Hardenbol, P.9
Leal, S.M.10
Pasternak, S.11
Wheeler, D.A.12
Willis, T.D.13
Yu, F.14
Yang, H.15
Zeng, C.16
Gao, Y.17
Hu, H.18
Hu, W.19
Li, C.20
Lin, W.21
Liu, S.22
Pan, H.23
Tang, X.24
Wang, J.25
Wang, W.26
Yu, J.27
Zhang, B.28
Zhang, Q.29
Zhao, H.30
Zhao, H.31
Zhou, J.32
Gabriel, S.B.33
Barry, R.34
Blumenstiel, B.35
Camargo, A.36
Defelice, M.37
Faggart, M.38
Goyette, M.39
Gupta, S.40
Moore, J.41
Nguyen, H.42
Onofrio, R.C.43
Parkin, M.44
Roy, J.45
Stahl, E.46
Winchester, E.47
Ziaugra, L.48
Altshuler, D.49
Shen, Y.50
Yao, Z.51
Huang, W.52
Chu, X.53
He, Y.54
Jin, L.55
Liu, Y.56
Shen, Y.57
Sun, W.58
Wang, H.59
Wang, Y.60
Wang, Y.61
Xiong, X.62
Xu, L.63
Waye, M.M.64
Tsui, S.K.65
Xue, H.66
Wong, J.T.67
Galver, L.M.68
Fan, J.B.69
Gunderson, K.70
Murray, S.S.71
Oliphant, A.R.72
Chee, M.S.73
Montpetit, A.74
Chagnon, F.75
Ferretti, V.76
Leboeuf, M.77
Olivier, J.F.78
Phillips, M.S.79
Roumy, S.80
Sallée, C.81
Verner, A.82
Hudson, T.J.83
Kwok, P.Y.84
Cai, D.85
Koboldt, D.C.86
Miller, R.D.87
Pawlikowska, L.88
Taillon-Miller, P.89
Xiao, M.90
Tsui, L.C.91
Mak, W.92
Song, Y.Q.93
Tam, P.K.94
Nakamura, Y.95
Kawaguchi, T.96
Kitamoto, T.97
Morizono, T.98
Nagashima, A.99
Ohnishi, Y.100
Sekine, A.101
Tanaka, T.102
Tsunoda, T.103
Deloukas, P.104
Bird, C.P.105
Delgado, M.106
Dermitzakis, E.T.107
Gwilliam, R.108
Hunt, S.109
Morrison, J.110
Powell, D.111
Stranger, B.E.112
Whittaker, P.113
Bentley, D.R.114
Daly, M.J.115
de Bakker, P.I.116
Barrett, J.117
Chretien, Y.R.118
Maller, J.119
McCarroll, S.120
Patterson, N.121
Pe'er, I.122
Price, A.123
Purcell, S.124
Richter, D.J.125
Sabeti, P.126
Saxena, R.127
Schaffner, S.F.128
Sham, P.C.129
Varilly, P.130
Altshuler, D.131
Stein, L.D.132
Krishnan, L.133
Smith, A.V.134
Tello-Ruiz, M.K.135
Thorisson, G.A.136
Chakravarti, A.137
Chen, P.E.138
Cutler, D.J.139
Kashuk, C.S.140
Lin, S.141
Abecasis, G.R.142
Guan, W.143
Li, Y.144
Munro, H.M.145
Qin, Z.S.146
Thomas, D.J.147
McVean, G.148
Auton, A.149
Bottolo, L.150
Cardin, N.151
Eyheramendy, S.152
Freeman, C.153
Marchini, J.154
Myers, S.155
Spencer, C.156
Stephens, M.157
Donnelly, P.158
Cardon, L.R.159
Clarke, G.160
Evans, D.M.161
Morris, A.P.162
Weir, B.S.163
Tsunoda, T.164
Mullikin, J.C.165
Sherry, S.T.166
Feolo, M.167
Skol, A.168
Zhang, H.169
Zeng, C.170
Zhao, H.171
Matsuda, I.172
Fukushima, Y.173
Macer, D.R.174
Suda, E.175
Rotimi, C.N.176
Adebamowo, C.A.177
Ajayi, I.178
Aniagwu, T.179
Marshall, P.A.180
Nkwodimmah, C.181
Royal, C.D.182
Leppert, M.F.183
Dixon, M.184
Peiffer, A.185
Qiu, R.186
Kent, A.187
Kato, K.188
Niikawa, N.189
Adewole, I.F.190
Knoppers, B.M.191
Foster, M.W.192
Clayton, E.W.193
Watkin, J.194
Gibbs, R.A.195
Belmont, J.W.196
Muzny, D.197
Nazareth, L.198
Sodergren, E.199
Weinstock, G.M.200
Wheeler, D.A.201
Yakub, I.202
Gabriel, S.B.203
Onofrio, R.C.204
Richter, D.J.205
Ziaugra, L.206
Birren, B.W.207
Daly, M.J.208
Altshuler, D.209
Wilson, R.K.210
Fulton, L.L.211
Rogers, J.212
Burton, J.213
Carter, N.P.214
Clee, C.M.215
Griffiths, M.216
Jones, M.C.217
McLay, K.218
Plumb, R.W.219
Ross, M.T.220
Sims, S.K.221
Willey, D.L.222
Chen, Z.223
Han, H.224
Kang, L.225
Godbout, M.226
Wallenburg, J.C.227
L'Archevêque, P.228
Bellemare, G.229
Saeki, K.230
Wang, H.231
An, D.232
Fu, H.233
Li, Q.234
Wang, Z.235
Wang, R.236
Holden, A.L.237
Brooks, L.D.238
McEwen, J.E.239
Guyer, M.S.240
Wang, V.O.241
Peterson, J.L.242
Shi, M.243
Spiegel, J.244
Sung, L.M.245
Zacharia, L.F.246
Collins, F.S.247
Kennedy, K.248
Jamieson, R.249
Stewart, J.250
more..
-
22
-
-
3543040014
-
Complex SNP-related sequence variation in segmental genome duplications
-
FredmanD, White SJ, Potter S, Eichler EE, DenDunnen JT, Brookes AJ. 2004. Complex SNP-related sequence variation in segmental genome duplications. Nat Genet 36:861-866.
-
(2004)
Nat Genet
, vol.36
, pp. 861-866
-
-
Fredman, D.1
White, S.J.2
Potter, S.3
Eichler, E.E.4
DenDunnen, J.T.5
Brookes, A.J.6
-
23
-
-
27544480956
-
Segmental duplications and gene conversion: human luteinizing hormone/chorionic gonadotropin beta gene cluster
-
Hallast P, Nagirnaja L, Margus T, Laan M. 2005. Segmental duplications and gene conversion: human luteinizing hormone/chorionic gonadotropin beta gene cluster. Genome Res 15:1535-1546.
-
(2005)
Genome Res
, vol.15
, pp. 1535-1546
-
-
Hallast, P.1
Nagirnaja, L.2
Margus, T.3
Laan, M.4
-
24
-
-
0002843222
-
Gene conversion homogenizes the CMT1A paralogous repeats
-
Hurles ME. 2001. Gene conversion homogenizes the CMT1A paralogous repeats. BMC Genomics 2:11.
-
(2001)
BMC Genomics
, vol.2
, pp. 11
-
-
Hurles, M.E.1
-
25
-
-
0034795550
-
Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex
-
Jeffreys AJ, Kauppi L, Neumann R. 2001. Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex. Nat Genet 29:217-222.
-
(2001)
Nat Genet
, vol.29
, pp. 217-222
-
-
Jeffreys, A.J.1
Kauppi, L.2
Neumann, R.3
-
26
-
-
0842310835
-
Intense and highly localized gene conversion activity in human meiotic crossover hot spots
-
Jeffreys AJ, May CA. 2004. Intense and highly localized gene conversion activity in human meiotic crossover hot spots. Nat Genet 36:151-156.
-
(2004)
Nat Genet
, vol.36
, pp. 151-156
-
-
Jeffreys, A.J.1
May, C.A.2
-
27
-
-
0036649022
-
Reciprocal crossover asymmetry and meiotic drive in a human recombination hot spot
-
Jeffreys AJ, Neumann R. 2002. Reciprocal crossover asymmetry and meiotic drive in a human recombination hot spot. Nat Genet 31:267-271.
-
(2002)
Nat Genet
, vol.31
, pp. 267-271
-
-
Jeffreys, A.J.1
Neumann, R.2
-
28
-
-
26444503776
-
Factors influencing recombination frequency and distribution in a human meiotic crossover hotspot
-
Jeffreys AJ, Neumann R. 2005. Factors influencing recombination frequency and distribution in a human meiotic crossover hotspot. Hum Mol Genet 14:2277-2287.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 2277-2287
-
-
Jeffreys, A.J.1
Neumann, R.2
-
29
-
-
20044377420
-
Human recombination hot spots hidden in regions of strong marker association
-
Jeffreys AJ, Neumann R, Panayi M, Myers S, Donnelly P. 2005. Human recombination hot spots hidden in regions of strong marker association. Nat Genet 37:601-606.
-
(2005)
Nat Genet
, vol.37
, pp. 601-606
-
-
Jeffreys, A.J.1
Neumann, R.2
Panayi, M.3
Myers, S.4
Donnelly, P.5
-
30
-
-
0037968340
-
Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse
-
Jenne DE, Tinschert S, Dorschner MO, Hameister H, Stephens K, Kehrer-Sawatzki H. 2003. Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse. Genes Chrom Cancer 37:111-120.
-
(2003)
Genes Chrom Cancer
, vol.37
, pp. 111-120
-
-
Jenne, D.E.1
Tinschert, S.2
Dorschner, M.O.3
Hameister, H.4
Stephens, K.5
Kehrer-Sawatzki, H.6
-
31
-
-
0034892401
-
Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions
-
Jenne DE, Tinschert S, ReimannH, Lasinger W, ThielG, Hameister H, Kehrer-Sawatzki H. 2001.Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions. Am J Hum Genet 69:516-527.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 516-527
-
-
Jenne, D.E.1
Tinschert, S.2
Reimann, H.3
Lasinger, W.4
Thiel, G.5
Hameister, H.6
Kehrer-Sawatzki, H.7
-
32
-
-
4143082585
-
High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene
-
Kehrer-Sawatzki H, Kluwe L, Sandig C, Kohn M, Wimmer K, Krammer U, Peyrl A, Jenne DE, Hansmann I, Mautner VF. 2004. High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene. Am J Hum Genet 75:410-423.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 410-423
-
-
Kehrer-Sawatzki, H.1
Kluwe, L.2
Sandig, C.3
Kohn, M.4
Wimmer, K.5
Krammer, U.6
Peyrl, A.7
Jenne, D.E.8
Hansmann, I.9
Mautner, V.F.10
-
33
-
-
79251493015
-
A human genome structural variation sequencing resource reveals insights into mutational mechanisms
-
Kidd JM, Graves T, Newman TL, Fulton R, Hayden HS, Malig M, Kallicki J, Kaul R, Wilson RK, Eichler EE. 2010. A human genome structural variation sequencing resource reveals insights into mutational mechanisms. Cell 143:837-847.
-
(2010)
Cell
, vol.143
, pp. 837-847
-
-
Kidd, J.M.1
Graves, T.2
Newman, T.L.3
Fulton, R.4
Hayden, H.S.5
Malig, M.6
Kallicki, J.7
Kaul, R.8
Wilson, R.K.9
Eichler, E.E.10
-
34
-
-
1042299966
-
Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene
-
Kluwe L, Siebert R, Gesk S, Friedrich RE, Tinschert S, Kehrer-Sawatzki H, Mautner VF. 2004. Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene. Hum Mutat 23:111-116.
-
(2004)
Hum Mutat
, vol.23
, pp. 111-116
-
-
Kluwe, L.1
Siebert, R.2
Gesk, S.3
Friedrich, R.E.4
Tinschert, S.5
Kehrer-Sawatzki, H.6
Mautner, V.F.7
-
35
-
-
39449106471
-
Sequence variants in the RNF212 gene associate with genome-wide recombination rate
-
Kong A, Thorleifsson G, Stefansson H, Masson G, Helgason A, Gudbjartsson DF, Jonsdottir GM, Gudjonsson SA, Sverrisson S, Thorlacius T, Jonasdottir A, Hardarson GA, Palsson ST, Frigge ML, Gulcher JR, Thorsteinsdottir U, Stefansson K. 2008. Sequence variants in the RNF212 gene associate with genome-wide recombination rate. Science 319:1398-1401.
-
(2008)
Science
, vol.319
, pp. 1398-1401
-
-
Kong, A.1
Thorleifsson, G.2
Stefansson, H.3
Masson, G.4
Helgason, A.5
Gudbjartsson, D.F.6
Jonsdottir, G.M.7
Gudjonsson, S.A.8
Sverrisson, S.9
Thorlacius, T.10
Jonasdottir, A.11
Hardarson, G.A.12
Palsson, S.T.13
Frigge, M.L.14
Gulcher, J.R.15
Thorsteinsdottir, U.16
Stefansson, K.17
-
36
-
-
12444334564
-
Prevalence of neurofibromatosis 1 in German children at elementary school enrollment
-
Lammert M, Friedman JM, Kluwe L, Mautner VF. 2005. Prevalence of neurofibromatosis 1 in German children at elementary school enrollment. Arch Dermatol 141:71-74.
-
(2005)
Arch Dermatol
, vol.141
, pp. 71-74
-
-
Lammert, M.1
Friedman, J.M.2
Kluwe, L.3
Mautner, V.F.4
-
37
-
-
0347361674
-
Modeling linkage disequilibrium and identifying recombination hotspots using single-nucleotide polymorphism data
-
Li N, Stephens M. 2003. Modeling linkage disequilibrium and identifying recombination hotspots using single-nucleotide polymorphism data. Genetics 165:2213-2233.
-
(2003)
Genetics
, vol.165
, pp. 2213-2233
-
-
Li, N.1
Stephens, M.2
-
38
-
-
33749056284
-
A chromosomal rearrangement hotspot can be identified frompopulation genetic variation and is coincident with a hotspot for allelic recombination
-
Lindsay SJ, Khajavi M, Lupski JR, Hurles ME. 2006. A chromosomal rearrangement hotspot can be identified frompopulation genetic variation and is coincident with a hotspot for allelic recombination. Am J Hum Genet 79:890-902.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 890-902
-
-
Lindsay, S.J.1
Khajavi, M.2
Lupski, J.R.3
Hurles, M.E.4
-
39
-
-
79251553493
-
omparative and demographic analysis of orang-utan genomes
-
Locke DP, Hillier LW, Warren WC, Worley KC, Nazareth LV, Muzny DM, Yang SP, Wang Z, Chinwalla AT, Minx P, Mitreva M, Cook L, Delehaunty KD, Fronick C, Schmidt H, Fulton LA, Fulton RS, Nelson JO, Magrini V, Pohl C, Graves TA, Markovic C, Cree A, Dinh HH, Hume J, Kovar CL, Fowler GR, Lunter G, Meader S, Heger A, Ponting CP, Marques-Bonet T, Alkan C, Chen L, Cheng Z, Kidd JM, Eichler EE, White S, Searle S, Vilella AJ, Chen Y, Flicek P, Ma J, Raney B, Suh B, Burhans R, Herrero J, Haussler D, Faria R, Fernando O, Darré F, Farré D, Gazave E, Oliva M, Navarro A, Roberto R, Capozzi O, Archidiacono N, Della Valle G, Purgato S, Rocchi M, Konkel MK, Walker JA, Ullmer B, Batzer MA, Smit AF, Hubley R, Casola C, Schrider DR, Hahn MW, Quesada V, Puente XS, Ordoñez GR, López-Otín C, Vinar T, Brejova B, Ratan A, Harris RS, Miller W, Kosiol C, LawsonHA, TaliwalV, MartinsAL, Siepel A, Roychoudhury A, Ma X, Degenhardt J, Bustamante CD, Gutenkunst RN, Mailund T, Dutheil JY, Hobolth A, Schierup MH, Ryder OA, Yoshinaga Y, de Jong PJ, Weinstock GM, Rogers J, Mardis ER, GibbsRA, Wilson RK. 2011.Comparative and demographic analysis of orang-utan genomes. Nature 469:529-533.
-
(2011)
Nature
, vol.469
, pp. 529-533
-
-
Locke, D.P.1
Hillier, L.W.2
Warren, W.C.3
Worley, K.C.4
Nazareth, L.V.5
Muzny, D.M.6
Yang, S.P.7
Wang, Z.8
Chinwalla, A.T.9
Minx, P.10
Mitreva, M.11
Cook, L.12
Delehaunty, K.D.13
Fronick, C.14
Schmidt, H.15
Fulton, L.A.16
Fulton, R.S.17
Nelson, J.O.18
Magrini, V.19
Pohl, C.20
Graves, T.A.21
Markovic, C.22
Cree, A.23
Dinh, H.H.24
Hume, J.25
Kovar, C.L.26
Fowler, G.R.27
Lunter, G.28
Meader, S.29
Heger, A.30
Ponting, C.P.31
Marques-Bonet, T.32
Alkan, C.33
Chen, L.34
Cheng, Z.35
Kidd, J.M.36
Eichler, E.E.37
White, S.38
Searle, S.39
Vilella, A.J.40
Chen, Y.41
Flicek, P.42
Ma, J.43
Raney, B.44
Suh, B.45
Burhans, R.46
Herrero, J.47
Haussler, D.48
Faria, R.49
Fernando, O.50
Darré, F.51
Farré, D.52
Gazave, E.53
Oliva, M.54
Navarro, A.55
Roberto, R.56
Capozzi, O.57
Archidiacono, N.58
Della Valle, G.59
Purgato, S.60
Rocchi, M.61
Konkel, M.K.62
Walker, J.A.63
Ullmer, B.64
Batzer, M.A.65
Smit, A.F.66
Hubley, R.67
Casola, C.68
Schrider, D.R.69
Hahn, M.W.70
Quesada, V.71
Puente, X.S.72
Ordoñez, G.R.73
López-Otín, C.74
Vinar, T.75
Brejova, B.76
Ratan, A.77
Harris, R.S.78
Miller, W.79
Kosiol, C.80
Lawson, H.A.81
Taliwal, V.82
Martins, A.L.83
Siepel, A.84
Roychoudhury, A.85
Ma, X.86
Degenhardt, J.87
Bustamante, C.D.88
Gutenkunst, R.N.89
Mailund, T.90
Dutheil, J.Y.91
Hobolth, A.92
Schierup, M.H.93
Ryder, O.A.94
Yoshinaga, Y.95
de Jong, P.J.96
Weinstock, G.M.97
Rogers, J.98
Mardis, E.R.99
Gibbs, R.A.100
Wilson, R.K.101
more..
-
40
-
-
0033911949
-
Unequal meiotic crossover: a frequent cause of NF1 microdeletions
-
López-Correa C, Brems H, Lázaro C, Marynen P, Legius E. 2000. Unequal meiotic crossover: a frequent cause of NF1 microdeletions. Am J Hum Genet 66:1969-1974.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1969-1974
-
-
López-Correa, C.1
Brems, H.2
Lázaro, C.3
Marynen, P.4
Legius, E.5
-
41
-
-
0035875064
-
Recombination hotspot in NF1 microdeletion patients
-
López-CorreaC, Dorschner M, BremsH, LázaroC, ClementiM, Upadhyaya M, Dooijes D, Moog U, Kehrer-Sawatzki H, Rutkowski JL, Fryns JP, Marynen P, Stephens K, Legius E. 2001. Recombination hotspot in NF1 microdeletion patients. HumMol Genet 10:1387-1392.
-
(2001)
HumMol Genet
, vol.10
, pp. 1387-1392
-
-
López-Correa, C.1
Dorschner, M.2
Brems, H.3
Lázaro, C.4
Clementi, M.5
Upadhyaya, M.6
Dooijes, D.7
Moog, U.8
Kehrer-Sawatzki, H.9
Rutkowski, J.L.10
Fryns, J.P.11
Marynen, P.12
Stephens, K.13
Legius, E.14
-
42
-
-
2142773942
-
The finescale structure of recombination rate variation in the human genome
-
McVean GA, Myers SR, Hunt S, Deloukas P, Bentley DR, Donnelly P. 2004. The finescale structure of recombination rate variation in the human genome. Science 304:581-584.
-
(2004)
Science
, vol.304
, pp. 581-584
-
-
McVean, G.A.1
Myers, S.R.2
Hunt, S.3
Deloukas, P.4
Bentley, D.R.5
Donnelly, P.6
-
43
-
-
68649123353
-
Duplication hotspots, rare genomic disorders, and common disease
-
Mefford HC, Eichler EE. 2009. Duplication hotspots, rare genomic disorders, and common disease. Curr Opin Genet 19:196-204.
-
(2009)
Curr Opin Genet
, vol.19
, pp. 196-204
-
-
Mefford, H.C.1
Eichler, E.E.2
-
44
-
-
79551573541
-
Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)
-
Messiaen L, Vogt J, Bengesser K, Fu C, Mikhail F, Serra E, Garcia-Linares C, Cooper DN, Lazaro C, Kehrer-Sawatzki H. 2011. Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1). Hum Mutat 32:213-219.
-
(2011)
Hum Mutat
, vol.32
, pp. 213-219
-
-
Messiaen, L.1
Vogt, J.2
Bengesser, K.3
Fu, C.4
Mikhail, F.5
Serra, E.6
Garcia-Linares, C.7
Cooper, D.N.8
Lazaro, C.9
Kehrer-Sawatzki, H.10
-
45
-
-
84975804424
-
Mapping copy number variation by population-scale genome sequencing
-
1000 Genomes Project
-
Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C, Abyzov A, Yoon SC, Ye K, Cheetham RK, Chinwalla A, Conrad DF, Fu Y, Grubert F, Hajirasouliha I, Hormozdiari F, Iakoucheva LM, Iqbal Z, Kang S, Kidd JM, Konkel MK, Korn J, Khurana E, Kural D, Lam HY, Leng J, Li R, Li Y, Lin CY, Luo R, Mu XJ, Nemesh J, Peckham HE, Rausch T, Scally A, Shi X, Stromberg MP, Stütz AM, Urban AE, Walker JA, Wu J, Zhang Y, Zhang ZD, Batzer MA, Ding L, Marth GT, McVean G, Sebat J, Snyder M, Wang J, Ye K, Eichler EE, Gerstein MB, Hurles ME, Lee C, McCarroll SA, Korbel JO; 1000 Genomes Project. 2011. Mapping copy number variation by population-scale genome sequencing. Nature 470:59-65.
-
(2011)
Nature
, vol.470
, pp. 59-65
-
-
Mills, R.E.1
Walter, K.2
Stewart, C.3
Handsaker, R.E.4
Chen, K.5
Alkan, C.6
Abyzov, A.7
Yoon, S.C.8
Ye, K.9
Cheetham, R.K.10
Chinwalla, A.11
Conrad, D.F.12
Fu, Y.13
Grubert, F.14
Hajirasouliha, I.15
Hormozdiari, F.16
Iakoucheva, L.M.17
Iqbal, Z.18
Kang, S.19
Kidd, J.M.20
Konkel, M.K.21
Korn, J.22
Khurana, E.23
Kural, D.24
Lam, H.Y.25
Leng, J.26
Li, R.27
Li, Y.28
Lin, C.Y.29
Luo, R.30
Mu, X.J.31
Nemesh, J.32
Peckham, H.E.33
Rausch, T.34
Scally, A.35
Shi, X.36
Stromberg, M.P.37
Stütz, A.M.38
Urban, A.E.39
Walker, J.A.40
Wu, J.41
Zhang, Y.42
Zhang, Z.D.43
Batzer, M.A.44
Ding, L.45
Marth, G.T.46
McVean, G.47
Sebat, J.48
Snyder, M.49
Wang, J.50
Ye, K.51
Eichler, E.E.52
Gerstein, M.B.53
Hurles, M.E.54
Lee, C.55
McCarroll, S.A.56
Korbel, J.O.57
more..
-
46
-
-
26844482093
-
A fine-scale map of recombination rates and hotspots across the human genome
-
Myers S, Bottolo L, Freeman C, McVean G, Donnelly P. 2005. A fine-scale map of recombination rates and hotspots across the human genome. Science 310:321-324.
-
(2005)
Science
, vol.310
, pp. 321-324
-
-
Myers, S.1
Bottolo, L.2
Freeman, C.3
McVean, G.4
Donnelly, P.5
-
47
-
-
50449088155
-
A common sequencemotif associated with recombination hot spots and genome instability in humans
-
Myers S, Freeman C, Auton A, Donnelly P, McVeanG. 2008. A common sequencemotif associated with recombination hot spots and genome instability in humans. Nat Genet 40:1124-1129.
-
(2008)
Nat Genet
, vol.40
, pp. 1124-1129
-
-
Myers, S.1
Freeman, C.2
Auton, A.3
Donnelly, P.4
McVean, G.5
-
48
-
-
77952359134
-
Dynamics and processes of copy number instability in human gamma-globin genes
-
Neumann R, Lawson VE, Jeffreys AJ. 2010. Dynamics and processes of copy number instability in human gamma-globin genes. ProcNatlAcad SciUSA107:8304-8309.
-
(2010)
ProcNatlAcad SciUSA
, vol.107
, pp. 8304-8309
-
-
Neumann, R.1
Lawson, V.E.2
Jeffreys, A.J.3
-
49
-
-
76749151934
-
Prdm9 controls activation of mammalian recombination hotspots
-
Parvanov ED, Petkov PM, Paigen K. 2010. Prdm9 controls activation of mammalian recombination hotspots. Science 327:835.
-
(2010)
Science
, vol.327
, pp. 835
-
-
Parvanov, E.D.1
Petkov, P.M.2
Paigen, K.3
-
50
-
-
77952679995
-
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype
-
members of the NF France Network
-
Pasmant E, Sabbagh A, Spurlock G, Laurendeau I, Grillo E, Hamel MJ, Martin L, Barbarot S, Leheup B, Rodriguez D, Lacombe D, Dollfus H, Pasquier L, Isidor B, Ferkal S, Soulier J, Sanson M, Dieux-Coeslier A, Bièche I, Parfait B, Vidaud M, Wolkenstein P, Upadhyaya M, Vidaud D; members of the NF France Network. 2010. NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Hum Mutat 31:E1506-E1518.
-
(2010)
Hum Mutat
, vol.31
-
-
Pasmant, E.1
Sabbagh, A.2
Spurlock, G.3
Laurendeau, I.4
Grillo, E.5
Hamel, M.J.6
Martin, L.7
Barbarot, S.8
Leheup, B.9
Rodriguez, D.10
Lacombe, D.11
Dollfus, H.12
Pasquier, L.13
Isidor, B.14
Ferkal, S.15
Soulier, J.16
Sanson, M.17
Dieux-Coeslier, A.18
Bièche, I.19
Parfait, B.20
Vidaud, M.21
Wolkenstein, P.22
Upadhyaya, M.23
Vidaud, D.24
more..
-
51
-
-
27544511087
-
Traffic of genetic information between segmental duplications flanking the typical 22q11.2 deletion in velocardio-facial syndrome/DiGeorge syndrome
-
Pavlicek A, HouseR, Gentles AJ, Jurka J, MorrowBE. 2005.Traffic of genetic information between segmental duplications flanking the typical 22q11.2 deletion in velocardio-facial syndrome/DiGeorge syndrome. Genome Res 5:1487-1495.
-
(2005)
Genome Res
, vol.5
, pp. 1487-1495
-
-
Pavlicek, A.1
House, R.2
Gentles, A.J.3
Jurka, J.4
Morrow, B.E.5
-
52
-
-
45149091944
-
Acombination of cis and trans control can solve the hotspot conversion paradox
-
Peters AD. 2008.Acombination of cis and trans control can solve the hotspot conversion paradox. Genetics 178:1579-1593.
-
(2008)
Genetics
, vol.178
, pp. 1579-1593
-
-
Peters, A.D.1
-
53
-
-
0031972093
-
Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients
-
Reiter LT, Hastings PJ, Nelis E, De Jonghe P, van Broeckhoven C, Lupski JR. 1998. 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)
Am J Hum Genet
, vol.62
, pp. 1023-1033
-
-
Reiter, L.T.1
Hastings, P.J.2
Nelis, E.3
De Jonghe, P.4
van Broeckhoven, C.5
Lupski, J.R.6
-
54
-
-
0029962292
-
A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element
-
Reiter LT, Murakami T, Koeuth T, Pentao L, Muzny DM, Gibbs RA, Lupski JR. 1996. A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat Genet 12:288-297.
-
(1996)
Nat Genet
, vol.12
, pp. 288-297
-
-
Reiter, L.T.1
Murakami, T.2
Koeuth, T.3
Pentao, L.4
Muzny, D.M.5
Gibbs, R.A.6
Lupski, J.R.7
-
55
-
-
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 RD, Page DC, Rozen S. 2002. 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)
Am J Hum Genet
, vol.71
, pp. 906-922
-
-
Repping, S.1
Skaletsky, H.2
Lange, J.3
Silber, S.4
Van Der Veen, F.5
Oates, R.D.6
Page, D.C.7
Rozen, S.8
-
56
-
-
0035865322
-
Amap of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
-
International SNPMapWorking Group
-
Sachidanandam R, Weissman D, Schmidt SC, Kakol JM, Stein LD, Marth G, Sherry S, Mullikin JC, Mortimore BJ, Willey DL, Hunt SE, Cole CG, Coggill PC, Rice CM, Ning Z, Rogers J, Bentley DR, Kwok PY, Mardis ER, Yeh RT, Schultz B, Cook L, Davenport R, Dante M, Fulton L, Hillier L, Waterston RH, McPherson JD, Gilman B, Schaffner S, Van Etten WJ, Reich D, Higgins J, Daly MJ, Blumenstiel B, Baldwin J, Stange-Thomann N, Zody MC, Linton L, Lander ES, Altshuler D; International SNPMapWorking Group. 2001. Amap of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 409:928-933.
-
(2001)
Nature
, vol.409
, pp. 928-933
-
-
Sachidanandam, R.1
Weissman, D.2
Schmidt, S.C.3
Kakol, J.M.4
Stein, L.D.5
Marth, G.6
Sherry, S.7
Mullikin, J.C.8
Mortimore, B.J.9
Willey, D.L.10
Hunt, S.E.11
Cole, C.G.12
Coggill, P.C.13
Rice, C.M.14
Ning, Z.15
Rogers, J.16
Bentley, D.R.17
Kwok, P.Y.18
Mardis, E.R.19
Yeh, R.T.20
Schultz, B.21
Cook, L.22
Davenport, R.23
Dante, M.24
Fulton, L.25
Hillier, L.26
Waterston, R.H.27
McPherson, J.D.28
Gilman, B.29
Schaffner, S.30
Van Etten, W.J.31
Reich, D.32
Higgins, J.33
Daly, M.J.34
Blumenstiel, B.35
Baldwin, J.36
Stange-Thomann, N.37
Zody, M.C.38
Linton, L.39
Lander, E.S.40
Altshuler, D.41
more..
-
57
-
-
3042641616
-
Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates
-
Shaw CJ, Withers MA, Lupski JR. 2004. Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates. Am J Hum Genet 75:75-81.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 75-81
-
-
Shaw, C.J.1
Withers, M.A.2
Lupski, J.R.3
-
58
-
-
77949831756
-
Structural variation in the human genome and its role in disease
-
Stankiewicz P, Lupski JR. 2010. Structural variation in the human genome and its role in disease. Ann Rev Med 61:437-455.
-
(2010)
Ann Rev Med
, vol.61
, pp. 437-455
-
-
Stankiewicz, P.1
Lupski, J.R.2
-
59
-
-
13944278863
-
A common inversion under selection in Europeans
-
Stefansson H, Helgason A, Thorleifsson G, Steinthorsdottir V, Masson G, Barnard J, Baker A, Jonasdottir A, Ingason A, Gudnadottir VG, Desnica N, Hicks A, Gylfason A, GudbjartssonDF, Jonsdottir GM, Sainz J, Agnarsson K, Birgisdottir B, Ghosh S, Olafsdottir A, Cazier JB, Kristjansson K, FriggeML, Thorgeirsson TE, Gulcher JR, Kong A, Stefansson K. 2005. A common inversion under selection in Europeans. Nat Genet 37:129-137.
-
(2005)
Nat Genet
, vol.37
, pp. 129-137
-
-
Stefansson, H.1
Helgason, A.2
Thorleifsson, G.3
Steinthorsdottir, V.4
Masson, G.5
Barnard, J.6
Baker, A.7
Jonasdottir, A.8
Ingason, A.9
Gudnadottir, V.G.10
Desnica, N.11
Hicks, A.12
Gylfason, A.13
Gudbjartsson, D.F.14
Jonsdottir, G.M.15
Sainz, J.16
Agnarsson, K.17
Birgisdottir, B.18
Ghosh, S.19
Olafsdottir, A.20
Cazier, J.B.21
Kristjansson, K.22
Frigge, M.L.23
Thorgeirsson, T.E.24
Gulcher, J.R.25
Kong, A.26
Stefansson, K.27
more..
-
60
-
-
36749092844
-
Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination
-
Steinmann K, Cooper DN, Kluwe L, Chuzhanova NA, Senger C, Serra E, Lazaro C, Gilaberte M, Wimmer K, Mautner VF, Kehrer-Sawatzki H. 2007. Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination. Am J Hum Genet 81:1201-1220.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 1201-1220
-
-
Steinmann, K.1
Cooper, D.N.2
Kluwe, L.3
Chuzhanova, N.A.4
Senger, C.5
Serra, E.6
Lazaro, C.7
Gilaberte, M.8
Wimmer, K.9
Mautner, V.F.10
Kehrer-Sawatzki, H.11
-
62
-
-
34247499520
-
Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications
-
Torres-Juan L, Rosell J, Sánchez-de-la-Torre M, Fibla J, Heine-Suñer D. 2007. Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications. BMC Med Genet 8:14.
-
(2007)
BMC Med Genet
, vol.8
, pp. 14
-
-
Torres-Juan, L.1
Rosell, J.2
Sánchez-de-la-Torre, M.3
Fibla, J.4
Heine-Suñer, D.5
-
63
-
-
37549018501
-
Germline rates of de novomeiotic deletions and duplications causing several genomic disorders
-
Turner DJ, Miretti M, Rajan D, Fiegler H, Carter NP, Blayney ML, Beck S, Hurles ME. 2008. Germline rates of de novomeiotic deletions and duplications causing several genomic disorders. Nat Genet 40:90-95.
-
(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
Beck, S.7
Hurles, M.E.8
-
64
-
-
79951755719
-
The Red Queen theory of recombination hotspots
-
Ubeda F, Wilkins JF. 2011. The Red Queen theory of recombination hotspots. J Evol Biol 24:541-553.
-
(2011)
J Evol Biol
, vol.24
, pp. 541-553
-
-
Ubeda, F.1
Wilkins, J.F.2
-
65
-
-
11144278605
-
Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1. 9-Mb microdeletion
-
Visser R, Shimokawa O, Harada N, Kinoshita A, Ohta T, Niikawa N, Matsumoto N. 2005. Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion. Am J Hum Genet 76:52-67.
-
(2005)
Am J Hum Genet
, vol.76
, pp. 52-67
-
-
Visser, R.1
Shimokawa, O.2
Harada, N.3
Kinoshita, A.4
Ohta, T.5
Niikawa, N.6
Matsumoto, N.7
-
66
-
-
48749119888
-
Sperm cross-over activity in regions of the human genome showing extreme breakdown of marker association
-
Webb AJ, Berg IL, Jeffreys A. 2008. Sperm cross-over activity in regions of the human genome showing extreme breakdown of marker association. Proc Natl Acad Sci USA 105:10471-10476.
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, pp. 10471-10476
-
-
Webb, A.J.1
Berg, I.L.2
Jeffreys, A.3
-
67
-
-
34249907843
-
Non-BDNA conformations, mutagenesis and disease
-
Wells RD. 2007.Non-BDNA conformations, mutagenesis and disease. Trends Biochem Sci 32:271-278.
-
(2007)
Trends Biochem Sci
, vol.32
, pp. 271-278
-
-
Wells, R.D.1
-
68
-
-
77957975235
-
Detecting sequence polymorphisms associated with meiotic recombination hotspots in the human genome
-
Zheng J, Khil PP, Camerini-Otero RD, Przytycka TM. 2010. Detecting sequence polymorphisms associated with meiotic recombination hotspots in the human genome. Genome Biol 11:R103.
-
(2010)
Genome Biol
, vol.11
-
-
Zheng, J.1
Khil, P.P.2
Camerini-Otero, R.D.3
Przytycka, T.M.4
|