-
1
-
-
0020679232
-
Medical progress. Congenital malformations: Etiologic factors and their role in prevention (first of two parts)
-
Kalter, H. & Warkany, J. Medical progress. Congenital malformations: Etiologic factors and their role in prevention (first of two parts). N. Engl. J. Med. 308, 424-431 (1983).
-
(1983)
N. Engl. J. Med
, vol.308
, pp. 424-431
-
-
Kalter, H.1
Warkany, J.2
-
2
-
-
0020702232
-
Congenital malformations (Second of two parts)
-
Kalter, H. & Warkany, J. Congenital malformations (second of two parts). N. Engl. J. Med. 308, 491-497 (1983).
-
(1983)
N. Engl. J. Med
, vol.308
, pp. 491-497
-
-
Kalter, H.1
Warkany, J.2
-
3
-
-
33749043929
-
Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders
-
Lee, J.A. & Lupski, J.R. Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron 52, 103-121 (2006).
-
(2006)
Neuron
, vol.52
, pp. 103-121
-
-
Lee, J.A.1
Lupski, J.R.2
-
4
-
-
0023936538
-
Genetic disorders in children and young adults: A population study
-
Baird, P.A., Anderson, T.W., Newcombe, H.B. & Lowry, R.B. Genetic disorders in children and young adults: A population study. Am. J. Hum. Genet. 42, 677-693 (1988).
-
(1988)
Am. J. Hum. Genet
, vol.42
, pp. 677-693
-
-
Baird, P.A.1
Erson, T.W.2
Newcombe, H.B.3
Lowry, R.B.4
-
5
-
-
0037224621
-
Direct estimates of human per nucleotide mutation rates at 20 loci causing mendelian diseases
-
Kondrashov, A.S. Direct estimates of human per nucleotide mutation rates at 20 loci causing mendelian diseases. Hum. Mutat. 21, 12-27 (2003).
-
(2003)
Hum. Mutat
, vol.21
, pp. 12-27
-
-
Kondrashov, A.S.1
-
6
-
-
0033828761
-
Estimate of the mutation rate per nucleotide in humans
-
Nachman, M.W. & Crowell, S.L. Estimate of the mutation rate per nucleotide in humans. Genetics 156, 297-304 (2000).
-
(2000)
Genetics
, vol.156
, pp. 297-304
-
-
Nachman, M.W.1
Crowell, S.L.2
-
7
-
-
0034303523
-
The origins, patterns and implications of human spontaneous mutation
-
Crow, J.F. The origins, patterns and implications of human spontaneous mutation. Nat. Rev. Genet. 1, 40-47 (2000).
-
(2000)
Nat. Rev. Genet
, vol.1
, pp. 40-47
-
-
Crow, J.F.1
-
8
-
-
33749577195
-
Age and sex effects on human mutation rates: An old problem with new complexities
-
Crow, J.F. Age and sex effects on human mutation rates: An old problem with new complexities. J. Radial Res. 47 (suppl. B), B75-B82 (2006).
-
(2006)
J. Radial Res
, vol.47
, pp. B75-B82
-
-
Crow, J.F.1
-
9
-
-
0042490798
-
Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line
-
Goriely, A., McVean, G.A., Rojmyr, M., Ingemarsson, B. & Wilkie, A.O. Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line. Science 301, 643-646 (2003).
-
(2003)
Science
, vol.301
, pp. 643-646
-
-
Goriely, A.1
McVean, G.A.2
Rojmyr, M.3
Ingemarsson, B.4
Wilkie, A.O.5
-
10
-
-
33645413010
-
Charcot-Marie-Tooth disease and related hereditary polyneuropathies: Molecular diagnostics determine aspects of medical management
-
Szigeti, K., Garcia, C.A. & Lupski, J.R. Charcot-Marie-Tooth disease and related hereditary polyneuropathies: Molecular diagnostics determine aspects of medical management. Genet. Med. 8, 86-92 (2006).
-
(2006)
Genet. Med
, vol.8
, pp. 86-92
-
-
Szigeti, K.1
Garcia, C.A.2
Lupski, J.R.3
-
11
-
-
0027374931
-
Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMT1A duplication
-
Wise, C.A. et al. Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMT1A duplication. Am. J. Hum. Genet. 53, 853-863 (1993).
-
(1993)
Am. J. Hum. Genet
, vol.53
, pp. 853-863
-
-
Wise, C.A.1
-
12
-
-
0029863589
-
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: A European collaborative study
-
Nelis, E. et al. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: A European collaborative study. Eur. J. Hum. Genet. 4, 25-33 (1996).
-
(1996)
Eur. J. Hum. Genet
, vol.4
, pp. 25-33
-
-
Nelis, E.1
-
13
-
-
0027108731
-
De-novo mutation in hereditary motor and sensory neuropathy type I
-
Hoogendijk, J.E. et al. De-novo mutation in hereditary motor and sensory neuropathy type I. Lancet 339, 1081-1082 (1992).
-
(1992)
Lancet
, vol.339
, pp. 1081-1082
-
-
Hoogendijk, J.E.1
-
14
-
-
0033072223
-
DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome
-
Potocki, L. et al. DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome. Am. J. Hum. Genet. 64, 471-478 (1999).
-
(1999)
Am. J. Hum. Genet
, vol.64
, pp. 471-478
-
-
Potocki, L.1
-
15
-
-
0037315253
-
Curt Stern Award address. Genomic disorders recombination-based disease resulting from genomic architecture
-
Lupski, J.R. 2002 Curt Stern Award address. Genomic disorders recombination-based disease resulting from genomic architecture. Am. J. Hum. Genet. 72, 246-252 (2003).
-
(2002)
Am. J. Hum. Genet
, vol.72
, pp. 246-252
-
-
Lupski, J.R.1
-
16
-
-
11144356173
-
Microarray based comparative genomic hybridisation (Array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features
-
Shaw-Smith, C. et al. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J. Med. Genet.41, 241-248 (2004).
-
(2004)
J. Med. Genet
, vol.41
, pp. 241-248
-
-
Shaw-Smith, C.1
-
17
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
Iafrate, A.J. et al. Detection of large-scale variation in the human genome. Nat. Genet. 36, 949-951 (2004).
-
(2004)
Nat. Genet
, vol.36
, pp. 949-951
-
-
Iafrate, A.J.1
-
18
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
Sebat, J. et al. Large-scale copy number polymorphism in the human genome. Science 305, 525-528 (2004).
-
(2004)
Science
, vol.305
, pp. 525-528
-
-
Sebat, J.1
-
19
-
-
25844500437
-
A genome-wide survey of structural variation between human and chimpanzee
-
Newman, T.L. et al. A genome-wide survey of structural variation between human and chimpanzee. Genome Res. 15, 1344-1356 (2005).
-
(2005)
Genome Res
, vol.15
, pp. 1344-1356
-
-
Newman, T.L.1
-
20
-
-
33751329250
-
Global variation in copy number in the human genome
-
Redon, R. et al. Global variation in copy number in the human genome. Nature 444, 444-454 (2006).
-
(2006)
Nature
, vol.444
, pp. 444-454
-
-
Redon, R.1
-
21
-
-
33751340401
-
Genome assembly comparison identifies structural variants in the human genome
-
Khaja, R. et al. Genome assembly comparison identifies structural variants in the human genome. Nat. Genet. 38, 1413-1418 (2006).
-
(2006)
Nat. Genet
, vol.38
, pp. 1413-1418
-
-
Khaja, R.1
-
22
-
-
33846006596
-
A comprehensive analysis of common copy-number variations in the human genome
-
Wong, K.K. et al. A comprehensive analysis of common copy-number variations in the human genome. Am. J. Hum. Genet. 80, 91-104 (2007).
-
(2007)
Am. J. Hum. Genet
, vol.80
, pp. 91-104
-
-
Wong, K.K.1
-
23
-
-
33751349817
-
Accurate and reliable high-throughput detection of copy number variation in the human genome
-
Fiegler, H. et al. Accurate and reliable high-throughput detection of copy number variation in the human genome. Genome Res. 16, 1566-1574 (2006).
-
(2006)
Genome Res
, vol.16
, pp. 1566-1574
-
-
Fiegler, H.1
-
24
-
-
33751345434
-
Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays
-
Komura, D. et al. Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays. Genome Res. 16, 1575-1584 (2006).
-
(2006)
Genome Res
, vol.16
, pp. 1575-1584
-
-
Komura, D.1
-
25
-
-
33947220222
-
Structural variation in the human genome
-
Lupski, J.R. Structural variation in the human genome. N. Engl. J. Med. 356, 1169-1171 (2007).
-
(2007)
N. Engl. J. Med
, vol.356
, pp. 1169-1171
-
-
Lupski, J.R.1
-
26
-
-
0031731487
-
Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
-
Lupski, J.R. Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet. 14, 417-422 (1998).
-
(1998)
Trends Genet
, vol.14
, pp. 417-422
-
-
Lupski, J.R.1
-
27
-
-
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
-
28
-
-
0034513406
-
Molecular mechanisms for constitutional chromosomal rearrangements in humans
-
Shaffer, L.G. & Lupski, J.R. Molecular mechanisms for constitutional chromosomal rearrangements in humans. Annu. Rev. Genet. 34, 297-329 (2000).
-
(2000)
Annu. Rev. Genet
, vol.34
, pp. 297-329
-
-
Shaffer, L.G.1
Lupski, J.R.2
-
29
-
-
0018185292
-
Molecular basis of base substitution hotspots in Escherichia coli
-
Coulondre, C., Miller, J.H., Farabaugh, P.J. & Gilbert, W. Molecular basis of base substitution hotspots in Escherichia coli. Nature 274, 775-780 (1978).
-
(1978)
Nature
, vol.274
, pp. 775-780
-
-
Coulondre, C.1
Miller, J.H.2
Farabaugh, P.J.3
Gilbert, W.4
-
30
-
-
0023853921
-
The CpG dinucleotide and human genetic disease
-
Cooper, D.N. & Youssoufian, H. The CpG dinucleotide and human genetic disease. Hum. Genet. 78, 151-155 (1988).
-
(1988)
Hum. Genet
, vol.78
, pp. 151-155
-
-
Cooper, D.N.1
Youssoufian, H.2
-
31
-
-
32044432488
-
Hereditary motor and sensory neuropathies involving altered dosage or mutation of PMP22: The CMT1A duplication and HNPP deletion
-
(eds. Dyck, P.J. & Thomas, P.K.) Ch. 70, Elsevier, Philadelphia
-
Lupski, J.R. & Chance, P.F. Hereditary motor and sensory neuropathies involving altered dosage or mutation of PMP22: The CMT1A duplication and HNPP deletion. In Peripheral Neuropathy(eds. Dyck, P.J. & Thomas, P.K.) Ch. 70, 1659-1680 (Elsevier, Philadelphia, 2005).
-
(2005)
Peripheral Neuropathy
, pp. 1659-1680
-
-
Lupski, J.R.1
Chance, P.F.2
-
32
-
-
0000907007
-
Charcot-Marie-Tooth peripheral neuropathies and related disorders
-
(eds. Scriver, C.R. et al.) Ch. 227, McGraw-Hill, New York
-
Lupski, J.R. & Garcia, A. Charcot-Marie-Tooth peripheral neuropathies and related disorders. in The Metabolic and Molecular Bases of Inherited Diseases (eds. Scriver, C.R. et al.) Ch. 227, 5759-5788 (McGraw-Hill, New York, 2001).
-
(2001)
The Metabolic and Molecular Bases of Inherited Diseases
, pp. 5759-5788
-
-
Lupski, J.R.1
Garcia, A.2
-
33
-
-
0016266593
-
Genetic and clinical aspects of Charcot-Marie-Tooth’s disease
-
Skre, H. Genetic and clinical aspects of Charcot-Marie-Tooth’s disease. Clin. Genet. 6, 98-118 (1974).
-
(1974)
Clin. Genet
, vol.6
, pp. 98-118
-
-
Skre, H.1
-
34
-
-
84882866259
-
Hereditary motor and sensory neuropathies
-
(eds. Dyck, P.J. & Thomas, P.K.) Ch. 69, Elsevier, Philadelphia
-
Shy, M.E., Lupski, J.R., Chance, P.F., Klein, C.J. & Dyck, P.J. Hereditary motor and sensory neuropathies. in Peripheral Neuropathy Vol. I (eds. Dyck, P.J. & Thomas, P.K.) Ch. 69, 1623-1658 (Elsevier, Philadelphia, 2005).
-
(2005)
Peripheral Neuropathy
, vol.1
, pp. 1623-1658
-
-
Shy, M.E.1
Lupski, J.R.2
Chance, P.F.3
Klein, C.J.4
Dyck, P.J.5
-
35
-
-
0031038297
-
Prevalence and parental origin of de novo 1.5-Mb duplication in Charcot-Marie-Tooth disease type 1A
-
Bort, S., Martinez, F. & Palau, F. Prevalence and parental origin of de novo 1.5-Mb duplication in Charcot-Marie-Tooth disease type 1A. Am. J. Hum. Genet. 60, 230-233 (1997).
-
(1997)
Am. J. Hum. Genet
, vol.60
, pp. 230-233
-
-
Bort, S.1
Martinez, F.2
Palau, F.3
-
36
-
-
23944460142
-
17p duplicated Charcot-Marie-Tooth 1A: Characteristics of a new population
-
Marques, W., Jr. et al. 17p duplicated Charcot-Marie-Tooth 1A: Characteristics of a new population. J. Neurol. 252, 972-979 (2005).
-
(2005)
J. Neurol
, vol.252
, pp. 972-979
-
-
Marques, W.1
-
37
-
-
16844371343
-
Frequency of new copy number variation in humans
-
van Ommen, G.J. Frequency of new copy number variation in humans. Nat. Genet. 37, 333-334 (2005).
-
(2005)
Nat. Genet
, vol.37
, pp. 333-334
-
-
Van Ommen, G.J.1
-
38
-
-
77951509701
-
The rate of spontaneous mutation of a human gene
-
Haldane, J.B.S. The rate of spontaneous mutation of a human gene. J. Genet. 31, 317-326 (1935).
-
(1935)
J. Genet
, vol.31
, pp. 317-326
-
-
Haldane, J.B.S.1
-
39
-
-
0024815723
-
Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications
-
Den Dunnen, J.T. et al. Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am. J. Hum. Genet. 45, 835-847 (1989).
-
(1989)
Am. J. Hum. Genet
, vol.45
, pp. 835-847
-
-
Den Dunnen, J.T.1
-
40
-
-
18444368121
-
Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization
-
White, S. et al. Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization. Am. J. Hum. Genet. 71, 365-374 (2002).
-
(2002)
Am. J. Hum. Genet
, vol.71
, pp. 365-374
-
-
White, S.1
-
41
-
-
20544462642
-
Segmental duplications and copy-number variation in the human genome
-
Sharp, A.J. et al. Segmental duplications and copy-number variation in the human genome. Am. J. Hum. Genet. 77, 78-88 (2005).
-
(2005)
Am. J. Hum. Genet
, vol.77
, pp. 78-88
-
-
Sharp, A.J.1
-
42
-
-
33748333194
-
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
-
Sharp, A.J. et al. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat. Genet. 38, 1038-1042 (2006).
-
(2006)
Nat. Genet
, vol.38
, pp. 1038-1042
-
-
Sharp, A.J.1
-
43
-
-
34047114932
-
Characterization of a recurrent 15q24 microdeletion syndrome
-
Sharp, A.J. et al. Characterization of a recurrent 15q24 microdeletion syndrome. Hum. Mol. Genet. 16, 567-572 (2007).
-
(2007)
Hum. Mol. Genet
, vol.16
, pp. 567-572
-
-
Sharp, A.J.1
-
44
-
-
34547664096
-
Genomic disorders: Molecular mechanisms for rearrangements and conveyed phenotypes
-
Lupski, J.R. & Stankiewicz, P. Genomic disorders: Molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet. 1, E49 (2005).
-
(2005)
Plos Genet
, vol.1
, pp. E49
-
-
Lupski, J.R.1
Stankiewicz, P.2
-
45
-
-
1842526843
-
Implications of human genome architecture for rearrangement-based disorders: The genomic basis of disease
-
Shaw, C.J. & Lupski, J.R. Implications of human genome architecture for rearrangement-based disorders: The genomic basis of disease. Hum. Mol. Genet. 13 (review issue 1), R57-R64 (2004).
-
(2004)
Hum. Mol. Genet
, vol.13
, pp. R57-R64
-
-
Shaw, C.J.1
Lupski, J.R.2
-
46
-
-
34147169956
-
Characterization of the Potocki-Lupski syndrome [dup(17)(p11.2p11.2)] and delineation of a dosage-sensitive critical interval that can convey an autism phe-notype
-
Potocki, L. et al. Characterization of the Potocki-Lupski syndrome [dup(17)(p11.2p11.2)] and delineation of a dosage-sensitive critical interval that can convey an autism phe-notype. Am. J. Hum. Genet. 80, 633-649 (2007).
-
(2007)
Am. J. Hum. Genet
, vol.80
, pp. 633-649
-
-
Potocki, L.1
-
47
-
-
33745148197
-
Processes of copy-number change in human DNA: The dynamics of a-globin gene deletion
-
Lam, K.-W. & Jeffreys, A.J. Processes of copy-number change in human DNA: The dynamics of a-globin gene deletion. Proc. Natl. Acad. Sci. USA 103, 8921-8927 (2006).
-
(2006)
Proc. Natl. Acad. Sci. USA
, vol.103
, pp. 8921-8927
-
-
Lam, K.-W.1
Jeffreys, A.J.2
-
48
-
-
0032231333
-
Chromosomal deletion map of human malformations
-
Brewer, C., Holloway, S., Zawalnyski, P., Schinzel, A. & FitzPatrick, D. A chromosomal deletion map of human malformations. Am. J. Hum. Genet. 63, 1153-1159 (1998).
-
(1998)
Am. J. Hum. Genet
, vol.63
, pp. 1153-1159
-
-
Brewer, C.1
Holloway, S.2
Zawalnyski, P.3
Schinzel, A.4
Fitzpatrick, D.A.5
-
49
-
-
0033361899
-
A chromosomal duplication map of malformations: Regions of suspected haplo- and triplolethality-and tolerance of segmental aneuploidy-in humans
-
Brewer, C., Holloway, S., Zawalnyski, P., Schinzel, A. & FitzPatrick, D. A chromosomal duplication map of malformations: Regions of suspected haplo- and triplolethality-and tolerance of segmental aneuploidy-in humans. Am. J. Hum. Genet. 64, 1702-1708 (1999).
-
(1999)
Am. J. Hum. Genet
, vol.64
, pp. 1702-1708
-
-
Brewer, C.1
Holloway, S.2
Zawalnyski, P.3
Schinzel, A.4
Fitzpatrick, D.5
-
50
-
-
0034234453
-
Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22)
-
Kurahashi, H. et al. Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22). Hum. Mol. Genet. 9, 1665-1670 (2000).
-
(2000)
Hum. Mol. Genet
, vol.9
, pp. 1665-1670
-
-
Kurahashi, H.1
-
51
-
-
0035159359
-
AT-rich palindromes mediate the constitutional t(11;22) translocation
-
Edelmann, L. et al. AT-rich palindromes mediate the constitutional t(11;22) translocation. Am. J. Hum. Genet. 68, 1-13 (2001).
-
(2001)
Am. J. Hum. Genet
, vol.68
, pp. 1-13
-
-
Edelmann, L.1
-
52
-
-
0034790435
-
Unexpectedly high rate of de novo constitutional t(11;22) translocations in sperm from normal males
-
Kurahashi, H. & Emanuel, B.S. Unexpectedly high rate of de novo constitutional t(11;22) translocations in sperm from normal males. Nat. Genet. 29, 139-140 (2001).
-
(2001)
Nat. Genet
, vol.29
, pp. 139-140
-
-
Kurahashi, H.1
Emanuel, B.S.2
-
53
-
-
33748286797
-
Genome structural variation and sporadic disease traits
-
Lupski, J.R. Genome structural variation and sporadic disease traits. Nat. Genet. 38, 974-976 (2006).
-
(2006)
Nat. Genet
, vol.38
, pp. 974-976
-
-
Lupski, J.R.1
-
54
-
-
33144472660
-
Genetic variation affects de novo translocation frequency
-
Kato, T. et al. Genetic variation affects de novo translocation frequency. Science 311, 971 (2006).
-
(2006)
Science
, vol.311
, pp. 971
-
-
Kato, T.1
-
55
-
-
34247481814
-
Strong association of de novo copy number mutations with autism
-
Sebat, J. et al. Strong association of de novo copy number mutations with autism. Science 316, 445-449 (2007).
-
(2007)
Science
, vol.316
, pp. 445-449
-
-
Sebat, J.1
-
56
-
-
0035014731
-
Segmental duplications: What’s missing, misassigned, and misassem-bled-and should we care?
-
Eichler, E.E. Segmental duplications: What’s missing, misassigned, and misassem-bled-and should we care? Genome Res. 11, 653-656 (2001).
-
(2001)
Genome Res
, vol.11
, pp. 653-656
-
-
Eichler, E.E.1
-
57
-
-
32844460507
-
Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism
-
Vorstman, J.A. et al. Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Mol. Psychiatry 11, 18-28 (2006).
-
(2006)
Mol. Psychiatry
, vol.11
, pp. 18-28
-
-
Vorstman, J.A.1
-
58
-
-
33751257500
-
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders
-
Jacquemont, M.L. et al. Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. J. Med. Genet. 43, 843-849 (2006).
-
(2006)
J. Med. Genet
, vol.43
, pp. 843-849
-
-
Jacquemont, M.L.1
-
59
-
-
23744491866
-
Development and validation of a CGH microarray for clinical cyto- genetic diagnosis
-
Cheung, S.W. et al. Development and validation of a CGH microarray for clinical cyto- genetic diagnosis. Genet. Med. 7, 422-432 (2005).
-
(2005)
Genet. Med
, vol.7
, pp. 422-432
-
-
Cheung, S.W.1
-
60
-
-
16344393207
-
Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: Is less more?
-
Bejjani, B.A. et al. Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: Is less more? Am. J. Med. Genet. A. 134, 259-267 (2005).
-
(2005)
Am. J. Med. Genet. A
, vol.134
, pp. 259-267
-
-
Bejjani, B.A.1
-
61
-
-
33746167778
-
Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases
-
Shaffer, L.G. et al. Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J. Pediatr. 149, 98-102 (2006).
-
(2006)
J. Pediatr
, vol.149
, pp. 98-102
-
-
Shaffer, L.G.1
-
62
-
-
34249717942
-
Clinical implementation of chromosomal microarray analysis: Summary of 2513 consecutive postnatal cases
-
Lu, X. et al. Clinical implementation of chromosomal microarray analysis: Summary of 2513 consecutive postnatal cases. PLoS ONE3, E327 (2007).
-
(2007)
Plos ONE3
, pp. E327
-
-
Lu, X.1
-
63
-
-
0030881588
-
Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
-
Chen, K.-S. et al. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat. Genet. 17, 154-163 (1997).
-
(1997)
Nat. Genet
, vol.17
, pp. 154-163
-
-
Chen, K.-S.1
-
64
-
-
0033987366
-
Molecular mechanism for duplication 17p11.2-the homologous recombination reciprocal of the Smith-Magenis microdeletion
-
Potocki, L. et al. Molecular mechanism for duplication 17p11.2-the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat. Genet. 24, 84-87 (2000).
-
(2000)
Nat. Genet
, vol.24
, pp. 84-87
-
-
Potocki, L.1
-
65
-
-
0038067849
-
Genome architecture catalyzes nonrecurrent chromosomal rearrangements
-
Stankiewicz, P. et al. Genome architecture catalyzes nonrecurrent chromosomal rearrangements. Am. J. Hum. Genet. 72, 1101-1116 (2003).
-
(2003)
Am. J. Hum. Genet
, vol.72
, pp. 1101-1116
-
-
Stankiewicz, P.1
-
66
-
-
0348230989
-
Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2
-
Bi, W. et al. Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2. Am. J. Hum. Genet. 73, 1302-1315 (2003).
-
(2003)
Am. J. Hum. Genet
, vol.73
, pp. 1302-1315
-
-
Bi, W.1
-
67
-
-
3042641616
-
Uncommon deletion of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates
-
Shaw, C.J., Withers, M.A. & Lupski, J.R. Uncommon deletion 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).
-
(2004)
Am. J. Hum. Genet
, vol.75
, pp. 75-81
-
-
Shaw, C.J.1
Withers, M.A.2
Lupski, J.R.3
-
68
-
-
84891454123
-
Smith-Magenis syndrome deletion, reciprocal duplication dup(17)(p11.2p11.2), and other proximal 17p rearrangements
-
(eds. Lupski, J.R. & Stankiewicz, P., Humana, Totowa, New Jersey, USA
-
Stankiewicz, P., Bi, W. & Lupski, J.R. Smith-Magenis syndrome deletion, reciprocal duplication dup(17)(p11.2p11.2), and other proximal 17p rearrangements. in Genomic Disorders (eds. Lupski, J.R. & Stankiewicz, P.) 179-191 (Humana, Totowa, New Jersey, USA, 2006).
-
(2006)
Genomic Disorders
, pp. 179-191
-
-
Stankiewicz, P.1
Bi, W.2
Lupski, J.R.3
-
69
-
-
33745619547
-
Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease
-
Lee, J.A. et al. Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease. Hum. Mol. Genet. 15, 2250-2265 (2006).
-
(2006)
Hum. Mol. Genet
, vol.15
, pp. 2250-2265
-
-
Lee, J.A.1
|