-
1
-
-
35748951614
-
Direct selection of human genomic loci by microarray hybridization
-
Albert TJ, Molla MN et al (2007) Direct selection of human genomic loci by microarray hybridization. Nat Methods 4(11): 903-905.
-
(2007)
Nat Methods
, vol.4
, Issue.11
, pp. 903-905
-
-
Albert, T.J.1
Molla, M.N.2
-
2
-
-
57849167393
-
Targeted next-generation sequencing by specific capture of multiple genomic loci using low-volume microfluidic DNA arrays
-
Bau S, Schracke N et al (2009) Targeted next-generation sequencing by specific capture of multiple genomic loci using low-volume microfluidic DNA arrays. Anal Bioanal Chem 393(1): 171-175.
-
(2009)
Anal Bioanal Chem
, vol.393
, Issue.1
, pp. 171-175
-
-
Bau, S.1
Schracke, N.2
-
3
-
-
33847729536
-
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium
-
de Brouwer AP, Yntema HG et al (2007) Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat 28(2): 207-208.
-
(2007)
Hum Mutat
, vol.28
, Issue.2
, pp. 207-208
-
-
de Brouwer, A.P.1
Yntema, H.G.2
-
4
-
-
0028117342
-
Multiplex PCR: Advantages, development, and applications
-
Edwards MC, Gibbs RA (1994) Multiplex PCR: advantages, development, and applications. PCR Methods Appl 3(4): S65-S75.
-
(1994)
PCR Methods Appl
, vol.3
, Issue.4
-
-
Edwards, M.C.1
Gibbs, R.A.2
-
5
-
-
59849113821
-
Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing
-
Gnirke A, Melnikov A et al (2009) Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat Biotechnol 27(2): 182-189.
-
(2009)
Nat Biotechnol
, vol.27
, Issue.2
, pp. 182-189
-
-
Gnirke, A.1
Melnikov, A.2
-
6
-
-
36549021060
-
Genome-wide in situ exon capture for selective resequencing
-
Hodges E, Xuan Z et al (2007) Genome-wide in situ exon capture for selective resequencing. Nat Genet 39(12): 1522-1527.
-
(2007)
Nat Genet
, vol.39
, Issue.12
, pp. 1522-1527
-
-
Hodges, E.1
Xuan, Z.2
-
7
-
-
19944430270
-
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
-
Jensen LR, Amende M et al (2005) Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Am J Hum Genet 76(2): 227-236.
-
(2005)
Am J Hum Genet
, vol.76
, Issue.2
, pp. 227-236
-
-
Jensen, L.R.1
Amende, M.2
-
8
-
-
40049104732
-
SOAP: Short oligonucleotide alignment program
-
Li R, Li Y et al (2008) SOAP: short oligonucleotide alignment program. Bioinformatics 24(5): 713-714.
-
(2008)
Bioinformatics
, vol.24
, Issue.5
, pp. 713-714
-
-
Li, R.1
Li, Y.2
-
9
-
-
52949096084
-
Next-generation DNA sequencing methods
-
Mardis ER (2008) Next-generation DNA sequencing methods. Annu Rev Genomics Hum Genet 9: 387-402.
-
(2008)
Annu Rev Genomics Hum Genet
, vol.9
, pp. 387-402
-
-
Mardis, E.R.1
-
10
-
-
38649114329
-
Specific expression of long noncoding RNAs in the mouse brain
-
Mercer TR, Dinger ME et al (2008) Specific expression of long noncoding RNAs in the mouse brain. Proc Natl Acad Sci USA 105(2): 716-721.
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, Issue.2
, pp. 716-721
-
-
Mercer, T.R.1
Dinger, M.E.2
-
11
-
-
35848968642
-
MegaPlex PCR: A strategy for multiplex amplification
-
Meuzelaar LS, Lancaster O et al (2007) MegaPlex PCR: a strategy for multiplex amplification. Nat Methods 4(10): 835-837.
-
(2007)
Nat Methods
, vol.4
, Issue.10
, pp. 835-837
-
-
Meuzelaar, L.S.1
Lancaster, O.2
-
12
-
-
70249111091
-
Targeted capture and massively parallel sequencing of 12 human exomes
-
Ng SB, Turner EH et al (2009) Targeted capture and massively parallel sequencing of 12 human exomes. Nature 461(7261): 272-276.
-
(2009)
Nature
, vol.461
, Issue.7261
, pp. 272-276
-
-
Ng, S.B.1
Turner, E.H.2
-
13
-
-
35748959649
-
Microarray-based genomic selection for high-throughput resequencing
-
Okou DT, Steinberg KM et al (2007) Microarray-based genomic selection for high-throughput resequencing. Nat Methods 4(11): 907-909.
-
(2007)
Nat Methods
, vol.4
, Issue.11
, pp. 907-909
-
-
Okou, D.T.1
Steinberg, K.M.2
-
14
-
-
35748951307
-
Enrichment of super-sized resequencing targets from the human genome
-
Olson M (2007) Enrichment of super-sized resequencing targets from the human genome. Nat Methods 4(11): 891-892.
-
(2007)
Nat Methods
, vol.4
, Issue.11
, pp. 891-892
-
-
Olson, M.1
-
15
-
-
35748953750
-
Multiplex amplification of large sets of human exons
-
Porreca GJ, Zhang K et al (2007) Multiplex amplification of large sets of human exons. Nat Methods 4(11): 931-936.
-
(2007)
Nat Methods
, vol.4
, Issue.11
, pp. 931-936
-
-
Porreca, G.J.1
Zhang, K.2
-
16
-
-
34547817696
-
New perspectives for the elucidation of genetic disorders
-
Ropers HH (2007) New perspectives for the elucidation of genetic disorders. Am J Hum Genet 81(2): 199-207.
-
(2007)
Am J Hum Genet
, vol.81
, Issue.2
, pp. 199-207
-
-
Ropers, H.H.1
-
17
-
-
52949098733
-
Genetics of intellectual disability
-
Ropers HH (2008) Genetics of intellectual disability. Curr Opin Genet Dev 18(3): 241-250.
-
(2008)
Curr Opin Genet Dev
, vol.18
, Issue.3
, pp. 241-250
-
-
Ropers, H.H.1
-
18
-
-
3042544793
-
High prevalence of SLC6A8 deficiency in X-linked mental retardation
-
Rosenberg EH, Almeida LS et al (2004) High prevalence of SLC6A8 deficiency in X-linked mental retardation. Am J Hum Genet 75(1): 97-105.
-
(2004)
Am J Hum Genet
, vol.75
, Issue.1
, pp. 97-105
-
-
Rosenberg, E.H.1
Almeida, L.S.2
-
19
-
-
53649106195
-
Next-generation DNA sequencing
-
Shendure J, Ji H (2008) Next-generation DNA sequencing. Nat Biotechnol 26(10): 1135-1145.
-
(2008)
Nat Biotechnol
, vol.26
, Issue.10
, pp. 1135-1145
-
-
Shendure, J.1
Ji, H.2
-
20
-
-
0035869223
-
Prediction of deleterious human alleles
-
Sunyaev S, Ramensky V et al (2001) Prediction of deleterious human alleles. Hum Mol Genet 10(6): 591-597.
-
(2001)
Hum Mol Genet
, vol.10
, Issue.6
, pp. 591-597
-
-
Sunyaev, S.1
Ramensky, V.2
-
21
-
-
33644863950
-
A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family
-
Tabolacci E, Pomponi MG et al (2006) A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family. Am J Med Genet A 140(5): 482-487.
-
(2006)
Am J Med Genet A
, vol.140
, Issue.5
, pp. 482-487
-
-
Tabolacci, E.1
Pomponi, M.G.2
-
22
-
-
66749148353
-
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
-
Tarpey PS, Smith R et al (2009) A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet 41(5): 535-543.
-
(2009)
Nat Genet
, vol.41
, Issue.5
, pp. 535-543
-
-
Tarpey, P.S.1
Smith, R.2
-
23
-
-
70449370324
-
Microdroplet-based PCR enrichment for large-scale targeted sequencing
-
Tewhey R, Warner JB et al (2009) Microdroplet-based PCR enrichment for large-scale targeted sequencing. Nat Biotechnol 27(11): 998-999.
-
(2009)
Nat Biotechnol
, vol.27
, Issue.11
, pp. 998-999
-
-
Tewhey, R.1
Warner, J.B.2
-
24
-
-
67349179787
-
Massively parallel exon capture and library-free resequencing across 16 genomes
-
Turner EH, Lee C et al (2009) Massively parallel exon capture and library-free resequencing across 16 genomes. Nat Methods 6(5): 315-316.
-
(2009)
Nat Methods
, vol.6
, Issue.5
, pp. 315-316
-
-
Turner, E.H.1
Lee, C.2
-
25
-
-
55549092780
-
Nested Patch PCR enables highly multiplexed mutation discovery in candidate genes
-
Varley KE, Mitra RD (2008) Nested Patch PCR enables highly multiplexed mutation discovery in candidate genes. Genome Res 18(11): 1844-1850.
-
(2008)
Genome Res
, vol.18
, Issue.11
, pp. 1844-1850
-
-
Varley, K.E.1
Mitra, R.D.2
|