메뉴 건너뛰기




Volumn 10, Issue 2, 2015, Pages

Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes

Author keywords

[No Author keywords available]

Indexed keywords

ARHGEF9 GENE; ARTICLE; ATRX GENE; CHROMOSOME VARIANT; EFNB1 GENE; EXOME; FEMALE; FLNA GENE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GRIPAP1 GENE; HCFC1 GENE; HUMAN; HUWE1 GENE; MALE; MECP2 GENE; OGT GENE; PLXNA3 GENE; PRICKLE3 GENE; RNF128 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SRPK3 GENE; TAF1 GENE; UBE2A GENE; X CHROMOSOME; X LINKED INTELLECTUAL DISABILITY; X LINKED MENTAL RETARDATION; ZC4H2 GENE; ZNF711 GENE; ZRSR2 GENE; BIOLOGY; COHORT ANALYSIS; DNA SEQUENCE; GENETICS; INTELLECTUAL IMPAIRMENT; X CHROMOSOMAL INHERITANCE;

EID: 84923037433     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0116454     Document Type: Article
Times cited : (49)

References (47)
  • 1
    • 84859514257 scopus 로고    scopus 로고
    • Fragile X and X-linked intellectual disability: Four decades of discovery
    • PMID: 22482801
    • Lubs HA, Stevenson RE, Schwartz CE (2012) Fragile X and X-linked intellectual disability: four decades of discovery. Am J Hum Genet 90: 579-590. doi: 10.1016/j.ajhg.2012.02.018 PMID: 22482801
    • (2012) Am J Hum Genet , vol.90 , pp. 579-590
    • Lubs, H.A.1    Stevenson, R.E.2    Schwartz, C.E.3
  • 2
    • 67649921127 scopus 로고    scopus 로고
    • The genetic landscape of intellectual disability arising from chromosome X
    • PMID: 19556021
    • Gecz J, Shoubridge C, Corbett M (2009) The genetic landscape of intellectual disability arising from chromosome X. Trends Genet 25: 308-316. doi: 10.1016/j.tig.2009.05.002 PMID: 19556021
    • (2009) Trends Genet , vol.25 , pp. 308-316
    • Gecz, J.1    Shoubridge, C.2    Corbett, M.3
  • 3
    • 77957968873 scopus 로고    scopus 로고
    • Genetics of early onset cognitive impairment
    • PMID: 20822471
    • Ropers HH (2010) Genetics of early onset cognitive impairment. Annu Rev Genomics Hum Genet 11: 161-187. doi: 10.1146/annurev-genom-082509-141640 PMID: 20822471
    • (2010) Annu Rev Genomics Hum Genet , vol.11 , pp. 161-187
    • Ropers, H.H.1
  • 4
    • 80053474802 scopus 로고    scopus 로고
    • Mapping rare and common causal alleles for complex human diseases
    • PMID: 21962507
    • Raychaudhuri S (2011) Mapping rare and common causal alleles for complex human diseases. Cell 147: 57-69. doi: 10.1016/j.cell.2011.09.011 PMID: 21962507
    • (2011) Cell , vol.147 , pp. 57-69
    • Raychaudhuri, S.1
  • 5
    • 72849144434 scopus 로고    scopus 로고
    • Sequencing technologies - The next generation
    • PMID: 19997069
    • Metzker ML (2010) Sequencing technologies - the next generation. Nat Rev Genet 11: 31-46. doi: 10.1038/nrg2626 PMID: 19997069
    • (2010) Nat Rev Genet , vol.11 , pp. 31-46
    • Metzker, M.L.1
  • 6
    • 70249111091 scopus 로고    scopus 로고
    • Targeted capture and massively parallel sequencing of 12 human exomes
    • PMID: 19684571
    • Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, et al. (2009) Targeted capture and massively parallel sequencing of 12 human exomes. Nature 461: 272-276. doi: 10.1038/nature08250 PMID: 19684571
    • (2009) Nature , vol.461 , pp. 272-276
    • Ng, S.B.1    Turner, E.H.2    Robertson, P.D.3    Flygare, S.D.4    Bigham, A.W.5
  • 7
    • 77449121614 scopus 로고    scopus 로고
    • Target-enrichment strategies for next-generation sequencing
    • PMID: 20111037
    • Mamanova L, Coffey AJ, Scott CE, Kozarewa I, Turner EH, et al. (2010) Target-enrichment strategies for next-generation sequencing. Nat Methods 7: 111-118. doi: 10.1038/nmeth.1419 PMID: 20111037
    • (2010) Nat Methods , vol.7 , pp. 111-118
    • Mamanova, L.1    Coffey, A.J.2    Scott, C.E.3    Kozarewa, I.4    Turner, E.H.5
  • 8
    • 80054746492 scopus 로고    scopus 로고
    • Exome sequencing as a tool for Mendelian disease gene discovery
    • PMID: 21946919
    • Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, et al. (2011) Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 12: 745-755. doi: 10.1038/nrg3031 PMID: 21946919
    • (2011) Nat Rev Genet , vol.12 , pp. 745-755
    • Bamshad, M.J.1    Ng, S.B.2    Bigham, A.W.3    Tabor, H.K.4    Emond, M.J.5
  • 9
    • 73349138875 scopus 로고    scopus 로고
    • Exome sequencing makes medical genomics a reality
    • PMID: 20037612
    • Biesecker LG (2010) Exome sequencing makes medical genomics a reality. Nat Genet 42: 13-14. doi: 10.1038/ng0110-13 PMID: 20037612
    • (2010) Nat Genet , vol.42 , pp. 13-14
    • Biesecker, L.G.1
  • 10
    • 80052838640 scopus 로고    scopus 로고
    • Unlocking Mendelian disease using exome sequencing
    • PMID: 22208880
    • Gilissen C, Hoischen A, Brunner HG, Veltman JA (2011) Unlocking Mendelian disease using exome sequencing. Genome Biol 12. doi: 10.1186/gb-2011-12-12-r127 PMID: 22208880
    • (2011) Genome Biol , vol.12
    • Gilissen, C.1    Hoischen, A.2    Brunner, H.G.3    Veltman, J.A.4
  • 11
    • 80053557894 scopus 로고    scopus 로고
    • Human genome sequencing in health and disease
    • PMID: 22248320
    • Gonzaga-Jauregui C, Lupski JR, Gibbs RA (2012) Human genome sequencing in health and disease. Annu Rev Med 63: 35-61. doi: 10.1146/annurev-med-051010-162644 PMID: 22248320
    • (2012) Annu Rev Med , vol.63 , pp. 35-61
    • Gonzaga-Jauregui, C.1    Lupski, J.R.2    Gibbs, R.A.3
  • 12
    • 84863984610 scopus 로고    scopus 로고
    • Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability
    • PMID: 22726846
    • Kleefstra T, Kramer JM, Neveling K, Willemsen MH, Koemans TS, et al. (2012) Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. Am J Hum Genet 91: 73-82. doi: 10.1016/j.ajhg.2012.05.003 PMID: 22726846
    • (2012) Am J Hum Genet , vol.91 , pp. 73-82
    • Kleefstra, T.1    Kramer, J.M.2    Neveling, K.3    Willemsen, M.H.4    Koemans, T.S.5
  • 13
    • 84863985546 scopus 로고    scopus 로고
    • Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation
    • PMID: 22683086
    • Krawitz PM, Murakami Y, Hecht J, Kruger U, Holder SE, et al. (2012) Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. Am J Hum Genet 91: 146-151. doi: 10.1016/j.ajhg.2012.05.004 PMID: 22683086
    • (2012) Am J Hum Genet , vol.91 , pp. 146-151
    • Krawitz, P.M.1    Murakami, Y.2    Hecht, J.3    Kruger, U.4    Holder, S.E.5
  • 14
    • 73349110071 scopus 로고    scopus 로고
    • Exome sequencing identifies the cause of a Mendelian disorder
    • PMID: 19915526
    • Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, et al. (2010) Exome sequencing identifies the cause of a Mendelian disorder. Nat Genet 42: 30-35. doi: 10.1038/ng.499 PMID: 19915526
    • (2010) Nat Genet , vol.42 , pp. 30-35
    • Ng, S.B.1    Buckingham, K.J.2    Lee, C.3    Bigham, A.W.4    Tabor, H.K.5
  • 15
    • 77956642100 scopus 로고    scopus 로고
    • Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
    • PMID: 20711175
    • Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, et al. (2010) Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 42: 790-793. doi: 10.1038/ng.646 PMID: 20711175
    • (2010) Nat Genet , vol.42 , pp. 790-793
    • Ng, S.B.1    Bigham, A.W.2    Buckingham, K.J.3    Hannibal, M.C.4    McMillin, M.J.5
  • 16
    • 79955836955 scopus 로고    scopus 로고
    • Whole-exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome
    • PMID: 21549343
    • O'Sullivan J, Bitu CC, Daly SB, Urquhart JE, Barron MJ, et al. (2011) Whole-exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome. Am J Hum Genet 88: 616-620. doi: 10.1016/j.ajhg.2011.04.005 PMID: 21549343
    • (2011) Am J Hum Genet , vol.88 , pp. 616-620
    • O'Sullivan, J.1    Bitu, C.C.2    Daly, S.B.3    Urquhart, J.E.4    Barron, M.J.5
  • 17
    • 84885769620 scopus 로고    scopus 로고
    • Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1)
    • PMID: 24381312
    • Caramins M, Colebatch JG, Bainbridge MN, Scherer SS, Abrams CK, et al. (2013) Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1). Hum Mol Genet. doi: 10.1093/hmg/ddt644 PMID: 24381312
    • (2013) Hum Mol Genet
    • Caramins, M.1    Colebatch, J.G.2    Bainbridge, M.N.3    Scherer, S.S.4    Abrams, C.K.5
  • 18
    • 84866933028 scopus 로고    scopus 로고
    • Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis
    • PMID: 22983302
    • Zhang SQ, Jiang T, Li M, Zhang X, Ren YQ, et al. (2012) Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis. Nat Genet 44: 1156-1160. doi: 10.1038/ng.2409 PMID: 22983302
    • (2012) Nat Genet , vol.44 , pp. 1156-1160
    • Zhang, S.Q.1    Jiang, T.2    Li, M.3    Zhang, X.4    Ren, Y.Q.5
  • 19
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • PMID: 19561590
    • Kumar P, Henikoff S, Ng PC (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4: 1073-1081. doi: 10.1038/nprot.2009.86 PMID: 19561590
    • (2009) Nat Protoc , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 20
    • 77951640946 scopus 로고    scopus 로고
    • A method and server for predicting damaging missense mutations
    • PMID: 20354512
    • Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, et al. (2010) A method and server for predicting damaging missense mutations. Nat Methods 7: 248-249. doi: 10.1038/nmeth0410-248 PMID: 20354512
    • (2010) Nat Methods , vol.7 , pp. 248-249
    • Adzhubei, I.A.1    Schmidt, S.2    Peshkin, L.3    Ramensky, V.E.4    Gerasimova, A.5
  • 21
    • 84864928152 scopus 로고    scopus 로고
    • Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy
    • PMID: 22863189
    • Heinzen EL, Depondt C, Cavalleri GL, Ruzzo EK, Walley NM, et al. (2012) Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy. Am J Hum Genet 91: 293-302. doi: 10.1016/j.ajhg.2012.06.016 PMID: 22863189
    • (2012) Am J Hum Genet , vol.91 , pp. 293-302
    • Heinzen, E.L.1    Depondt, C.2    Cavalleri, G.L.3    Ruzzo, E.K.4    Walley, N.M.5
  • 22
    • 80052868508 scopus 로고    scopus 로고
    • Effective detection of rare variants in pooled DNA samples using cross-pool tailcurve analysis
    • PMID: 21955804
    • Niranjan TS, Adamczyk A, Bravo HC, Taub MA, Wheelan SJ, et al. (2011) Effective detection of rare variants in pooled DNA samples using cross-pool tailcurve analysis. Genome Biol 12: R93. doi: 10.1186/gb-2011-12-9-r93 PMID: 21955804
    • (2011) Genome Biol , vol.12 , pp. R93
    • Niranjan, T.S.1    Adamczyk, A.2    Bravo, H.C.3    Taub, M.A.4    Wheelan, S.J.5
  • 23
    • 0032524383 scopus 로고    scopus 로고
    • Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome
    • PMID: 9582121
    • Wang DG, Fan J, Siao C, Berno A, Young P, et al. (1998) Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. Science 280: 1077-1082. PMID: 9582121
    • (1998) Science , vol.280 , pp. 1077-1082
    • Wang, D.G.1    Fan, J.2    Siao, C.3    Berno, A.4    Young, P.5
  • 24
    • 79960572198 scopus 로고    scopus 로고
    • Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher densities
    • PMID: 21787409
    • Bainbridge MN, Wang M, Wu Y, Newsham I, Muzny DM, et al. (2011) Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher densities. Genome Biol 12: R68. doi: 10.1186/gb-2011-12-7-r68 PMID: 21787409
    • (2011) Genome Biol , vol.12 , pp. R68
    • Bainbridge, M.N.1    Wang, M.2    Wu, Y.3    Newsham, I.4    Muzny, D.M.5
  • 26
    • 84975795680 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1,092 human genomes
    • PMID: 23128226
    • Genomes Project C, Abecasis GR, Auton A, Brooks LD, DePristo MA, et al. (2012) An integrated map of genetic variation from 1,092 human genomes. Nature 491: 56-65. doi: 10.1038/nature11632 PMID: 23128226
    • (2012) Nature , vol.491 , pp. 56-65
    • Abecasis, G.R.1    Auton, A.2    Brooks, L.D.3    DePristo, M.A.4    Genomes Project C5
  • 27
    • 84881618216 scopus 로고    scopus 로고
    • XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing
    • PMID: 24568772
    • Piton A, Redin C, Mandel JL (2013) XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. Am J Hum Genet. doi: 10.1016/j.ajhg.2013.10.002 PMID: 24568772
    • (2013) Am J Hum Genet
    • Piton, A.1    Redin, C.2    Mandel, J.L.3
  • 28
    • 84877583900 scopus 로고    scopus 로고
    • ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity
    • PMID: 23623388
    • Hirata H, Nanda I, van Riesen A, McMichael G, Hu H, et al. (2013) ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. Am J Hum Genet 92: 681-695. doi: 10.1016/j.ajhg.2013.03.021 PMID: 23623388
    • (2013) Am J Hum Genet , vol.92 , pp. 681-695
    • Hirata, H.1    Nanda, I.2    Van Riesen, A.3    McMichael, G.4    Hu, H.5
  • 29
    • 0032567668 scopus 로고    scopus 로고
    • Molecular cloning and mapping of human Semaphorin F from the Cri-du-chat candidate Interval
    • PMID: 9464278
    • Simmons AD, Püschel AW, McPherson JD, Overhauser J, Lovett M (1998) Molecular cloning and mapping of human Semaphorin F from the Cri-du-chat candidate Interval. Biochem Biophy Res Comm 242: 685-391. PMID: 9464278
    • (1998) Biochem Biophy Res Comm , vol.242 , pp. 685-1391
    • Simmons, A.D.1    Püschel, A.W.2    McPherson, J.D.3    Overhauser, J.4    Lovett, M.5
  • 30
    • 84890792446 scopus 로고    scopus 로고
    • Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection
    • PMID: 24307393
    • Athanasakis E, Licastro D, Faletra F, Fabretto A, Dipresa S, et al. (2013) Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection. Am J Med Genet Part A 164A: 170-6. doi: 10.1002/ajmg.a.36274 PMID: 24307393
    • (2013) Am J Med Genet Part A , vol.164 A , pp. 170-176
    • Athanasakis, E.1    Licastro, D.2    Faletra, F.3    Fabretto, A.4    Dipresa, S.5
  • 31
    • 0033679909 scopus 로고    scopus 로고
    • GRASP-1: A neuronal RasGEF associated with the AMPA Receptor/GRIP Complex
    • PMID: 11196436
    • Ye B, Liao D, Zhang X, Zhang P, Dong H, et al. (2000) GRASP-1: A neuronal RasGEF associated with the AMPA Receptor/GRIP Complex. Cell 26: 603-617. PMID: 11196436
    • (2000) Cell , vol.26 , pp. 603-617
    • Ye, B.1    Liao, D.2    Zhang, X.3    Zhang, P.4    Dong, H.5
  • 32
    • 79952484202 scopus 로고    scopus 로고
    • Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability
    • PMID: 21376300
    • Hamdan FF, Gauthier J, Araki Y, Lin DT, Yoshizawa Y, et al. (2011) Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. Am J Hum Genet 88: 306-16. doi: 10.1016/j.ajhg.2011.02.001 PMID: 21376300
    • (2011) Am J Hum Genet , vol.88 , pp. 306-316
    • Hamdan, F.F.1    Gauthier, J.2    Araki, Y.3    Lin, D.T.4    Yoshizawa, Y.5
  • 33
    • 34249064936 scopus 로고    scopus 로고
    • Dysregulated metabotropic glutamate receptor-dependent translation of AMPA receptor and postsynaptic density-95 mRNAs at synapses in a mouse model of fragile X syndrome
    • PMID: 17507556
    • Muddashetty RS, Kelic S, Gross C, Xu M, Bassell GJ (2007) Dysregulated metabotropic glutamate receptor-dependent translation of AMPA receptor and postsynaptic density-95 mRNAs at synapses in a mouse model of fragile X syndrome. J Neurosci 27(20): 5338-48. PMID: 17507556
    • (2007) J Neurosci , vol.27 , Issue.20 , pp. 5338-5348
    • Muddashetty, R.S.1    Kelic, S.2    Gross, C.3    Xu, M.4    Bassell, G.J.5
  • 34
    • 0027236971 scopus 로고
    • Characterization and localization of the FMR-1 gene product associated with fragile X syndrome
    • PMID: 8515814
    • Verheij C, Bakker CE, de Graaff E, Keulemans J, Willemsen R, et al. (1993) Characterization and localization of the FMR-1 gene product associated with fragile X syndrome. Nature 363: 722-4. PMID: 8515814
    • (1993) Nature , vol.363 , pp. 722-724
    • Verheij, C.1    Bakker, C.E.2    De Graaff, E.3    Keulemans, J.4    Willemsen, R.5
  • 35
    • 79954627094 scopus 로고    scopus 로고
    • Autism in two females with duplications involving Xp11.22-p11.23
    • PMID: 21418194
    • Edens AC, Lyons MJ, Duron RM, Dupont BR, Holden KR (2011) Autism in two females with duplications involving Xp11.22-p11.23. Dev Med Child Neurol 53: 463-466. doi: 10.1111/j.1469-8749.2010.03909.x PMID: 21418194
    • (2011) Dev Med Child Neurol , vol.53 , pp. 463-466
    • Edens, A.C.1    Lyons, M.J.2    Duron, R.M.3    Dupont, B.R.4    Holden, K.R.5
  • 36
    • 79961126962 scopus 로고    scopus 로고
    • Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder
    • PMID: 21689796
    • Chung BH, Drmic I, Marshall CR, Grafodatskaya D, Carter M, et al. (2011) Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder. Eur J Med Genet 54: e516-520. doi: 10.1016/j.ejmg.2011.05.008 PMID: 21689796
    • (2011) Eur J Med Genet , vol.54 , pp. e516-e520
    • Chung, B.H.1    Drmic, I.2    Marshall, C.R.3    Grafodatskaya, D.4    Carter, M.5
  • 37
    • 67649649790 scopus 로고    scopus 로고
    • Ephrin-B1 regulates axon guidance by reverse signaling through a PDZ-dependent mechanism
    • PMID: 19515977
    • Bush JO, Soriano P (2009) Ephrin-B1 regulates axon guidance by reverse signaling through a PDZ-dependent mechanism. Genes Dev 23: 1586-99. doi: 10.1101/gad.1807209 PMID: 19515977
    • (2009) Genes Dev , vol.23 , pp. 1586-1599
    • Bush, J.O.1    Soriano, P.2
  • 38
    • 84875783042 scopus 로고    scopus 로고
    • Cellular interference in craniofrontonasal syndrome: Males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes
    • PMID: 23335590
    • Twigg SRF, Babbs C, van den Elzen MEP, Goriely A, Taylor S, et al. (2013) Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. Hum Molec Genet 22: 1654-62 doi: 10.1093/hmg/ddt015 PMID: 23335590
    • (2013) Hum Molec Genet , vol.22 , pp. 1654-1662
    • Twigg, S.R.F.1    Babbs, C.2    Van Den Elzen, M.E.P.3    Goriely, A.4    Taylor, S.5
  • 39
    • 84895823162 scopus 로고    scopus 로고
    • Cortical abnormalities and non-spatial learning deficits in a mouse model of craniofrontonasal syndrome
    • PMID: 24520368
    • Arvanitis DN, Behar A, Drougard A, Roullet P, Davy A (2014) Cortical abnormalities and non-spatial learning deficits in a mouse model of craniofrontonasal syndrome. PLoS ONE 9(2): e88325. doi: 10.1371/journal.pone.0088325 PMID: 24520368
    • (2014) PLoS ONE , vol.9 , Issue.2 , pp. e88325
    • Arvanitis, D.N.1    Behar, A.2    Drougard, A.3    Roullet, P.4    Davy, A.5
  • 40
    • 84874266225 scopus 로고    scopus 로고
    • TET proteins connect the Olinked N-acetylglucosamine transferase OGT to chromatin in embryonic stem cells
    • PMID: 23352454
    • Vella P, Scelfo A, Jammula S, Chiacchiera F, Williams K, et al. (2013) TET proteins connect the Olinked N-acetylglucosamine transferase OGT to chromatin in embryonic stem cells. Mol Cell 49(4): 645-56. doi: 10.1016/j.molcel.2012.12.019 PMID: 23352454
    • (2013) Mol Cell , vol.49 , Issue.4 , pp. 645-656
    • Vella, P.1    Scelfo, A.2    Jammula, S.3    Chiacchiera, F.4    Williams, K.5
  • 41
    • 84867253688 scopus 로고    scopus 로고
    • A noncoding, regulator mutation implicates HCFC1 in nonsyndromic intellectual disability
    • PMID: 23000143
    • Huang L, Jolly LA, Willis-Owen S, Gardner A, Kumar R, et al. (2012) A noncoding, regulator mutation implicates HCFC1 in nonsyndromic intellectual disability. Am J Hum Genet 91(4): 694-702. doi: 10.1016/j.ajhg.2012.08.011 PMID: 23000143
    • (2012) Am J Hum Genet , vol.91 , Issue.4 , pp. 694-702
    • Huang, L.1    Jolly, L.A.2    Willis-Owen, S.3    Gardner, A.4    Kumar, R.5
  • 42
    • 84859210032 scopus 로고    scopus 로고
    • Fast gapped-read alignment with Bowtie 2
    • PMID: 22388286
    • Langmead B, Salzberg SL (2012) Fast gapped-read alignment with Bowtie 2. Nat Methods 9: 357-359. doi: 10.1038/nmeth.1923 PMID: 22388286
    • (2012) Nat Methods , vol.9 , pp. 357-359
    • Langmead, B.1    Salzberg, S.L.2
  • 43
    • 79955483667 scopus 로고    scopus 로고
    • A framework for variation discovery and genotyping using next-generation DNA sequencing data
    • PMID: 21478889
    • DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, et al. (2011) A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 43: 491-498. doi: 10.1038/ng.806 PMID: 21478889
    • (2011) Nat Genet , vol.43 , pp. 491-498
    • DePristo, M.A.1    Banks, E.2    Poplin, R.3    Garimella, K.V.4    Maguire, J.R.5
  • 44
    • 77956295988 scopus 로고    scopus 로고
    • The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
    • PMID: 20644199
    • McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, et al. (2010) The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20: 1297-1303. doi: 10.1101/gr.107524.110 PMID: 20644199
    • (2010) Genome Res , vol.20 , pp. 1297-1303
    • McKenna, A.1    Hanna, M.2    Banks, E.3    Sivachenko, A.4    Cibulskis, K.5
  • 45
    • 77956534324 scopus 로고    scopus 로고
    • ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data
    • PMID: 20601685
    • Wang K, Li M, Hakonarson H (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38: e164. doi: 10.1093/nar/gkq603 PMID: 20601685
    • (2010) Nucleic Acids Res , vol.38 , pp. e164
    • Wang, K.1    Li, M.2    Hakonarson, H.3
  • 47
    • 77956331627 scopus 로고    scopus 로고
    • Integrating common and rare genetic variation in diverse human populations
    • PMID: 20811451
    • The International HapMap 3 Consortium (2010) Integrating common and rare genetic variation in diverse human populations. Nature 467:52-8 doi: 10.1038/nature09298 PMID: 20811451
    • (2010) Nature , vol.467 , pp. 52-58
    • The International HapMap 3 Consortium1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.