메뉴 건너뛰기




Volumn 314, Issue 9, 2015, Pages 595-903

Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder

(34)  Tammimies, Kristiina a,b   Marshall, Christian R a,c   Walker, Susan a   Kaur, Gaganjot a   Thiruvahindrapuram, Bhooma a   Lionel, Anath C a   Yuen, Ryan K C a   Uddin, Mohammed a   Roberts, Wendy c   Weksberg, Rosanna c   Woodbury Smith, Marc d   Zwaigenbaum, Lonnie e   Anagnostou, Evdokia f   Wang, Zhuozhi a   Wei, John a   Howe, Jennifer L a   Gazzellone, Matthew J a   Lau, Lynette a,c   Sung, Wilson W L a   Whitten, Kathy g   more..


Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; WNT1 PROTEIN;

EID: 84940764107     PISSN: 00987484     EISSN: 15383598     Source Type: Journal    
DOI: 10.1001/jama.2015.10078     Document Type: Article
Times cited : (311)

References (50)
  • 5
    • 84940760976 scopus 로고    scopus 로고
    • Minor physical anomalies in adults with autism spectrum disorder and healthy controls
    • Manouilenko I, Eriksson JM, Humble MB, Bejerot S. Minor physical anomalies in adults with autism spectrum disorder and healthy controls. Autism Res Treat. 2014;2014:743482.
    • (2014) Autism Res Treat , vol.2014
    • Manouilenko, I.1    Eriksson, J.M.2    Humble, M.B.3    Bejerot, S.4
  • 6
    • 84862493260 scopus 로고    scopus 로고
    • Genetic architecture in autism spectrum disorder
    • Devlin B, Scherer SW. Genetic architecture in autism spectrum disorder. Curr Opin Genet Dev. 2012;22(3):229-237.
    • (2012) Curr Opin Genet Dev , vol.22 , Issue.3 , pp. 229-237
    • Devlin, B.1    Scherer, S.W.2
  • 7
    • 77952032690 scopus 로고    scopus 로고
    • Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
    • Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86(5):749-764.
    • (2010) Am J Hum Genet , vol.86 , Issue.5 , pp. 749-764
    • Miller, D.T.1    Adam, M.P.2    Aradhya, S.3
  • 8
    • 77950564908 scopus 로고    scopus 로고
    • Clinical genetic testing for patients with autism spectrum disorders
    • Shen Y, Dies KA, Holm IA, et al Autism Consortium Clinical Genetics/DNA Diagnostics Collaboration. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics.2010; 125(4):e727-e735.
    • (2010) Pediatrics , vol.125 , Issue.4 , pp. e727-e735
    • Shen, Y.1    Dies, K.A.2    Holm, I.A.3
  • 9
    • 84864359130 scopus 로고    scopus 로고
    • Diagnostic yield of chromosomal microarray analysis in an autism primary care practice: Which guidelines to implement?
    • McGrew SG, Peters BR, Crittendon JA, Veenstra-Vanderweele J. Diagnostic yield of chromosomal microarray analysis in an autism primary care practice: which guidelines to implement?J Autism Dev Disord. 2012;42(8):1582-1591.
    • (2012) J Autism Dev Disord , vol.42 , Issue.8 , pp. 1582-1591
    • McGrew, S.G.1    Peters, B.R.2    Crittendon, J.A.3    Veenstra-Vanderweele, J.4
  • 10
    • 84912144889 scopus 로고    scopus 로고
    • Synaptic, transcriptional and chromatin genes disrupted in autism
    • De Rubeis S, He X, Goldberg AP, et al DDD Study; Homozygosity Mapping Collaborative for Autism; UK10K Consortium. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 2014;515(7526):209-215.
    • (2014) Nature , vol.515 , Issue.7526 , pp. 209-215
    • DDD Study1    De Rubeis, S.2    He, X.3    Goldberg, A.P.4
  • 11
    • 84912101541 scopus 로고    scopus 로고
    • The contribution of de novo coding mutations to autism spectrum disorder
    • Iossifov I, O'Roak BJ, Sanders SJ, et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature. 2014;515(7526):216-221.
    • (2014) Nature , vol.515 , Issue.7526 , pp. 216-221
    • Iossifov, I.1    O'Roak, B.J.2    Sanders, S.J.3
  • 12
    • 50849106386 scopus 로고    scopus 로고
    • Genome-wide linkage analyses of quantitative and categorical autism subphenotypes
    • Liu XQ, Paterson AD, Szatmari P; Autism Genome Project Consortium. Genome-wide linkage analyses of quantitative and categorical autism subphenotypes. Biol Psychiatry. 2008;64(7):561-570.
    • (2008) Biol Psychiatry , vol.64 , Issue.7 , pp. 561-570
    • Liu, X.Q.1    Paterson, A.D.2    Szatmari, P.3
  • 13
    • 20044382649 scopus 로고    scopus 로고
    • Essential versus complex autism: Definition of fundamental prognostic subtypes
    • Miles JH, Takahashi TN, Bagby S, et al. Essential versus complex autism: definition of fundamental prognostic subtypes. Am J Med Genet A. 2005;135(2):171-180.
    • (2005) Am J Med Genet A , vol.135 , Issue.2 , pp. 171-180
    • Miles, J.H.1    Takahashi, T.N.2    Bagby, S.3
  • 14
    • 84908030450 scopus 로고    scopus 로고
    • Autism spectrum disorder severity reflects the average contribution of de novo and familial influences
    • Robinson EB, Samocha KE, Kosmicki JA, et al. Autism spectrum disorder severity reflects the average contribution of de novo and familial influences. Proc Natl Acad Sci U S A. 2014;111(42):15161-15165.
    • (2014) Proc Natl Acad Sci U S A , vol.111 , Issue.42 , pp. 15161-15165
    • Robinson, E.B.1    Samocha, K.E.2    Kosmicki, J.A.3
  • 15
    • 84903590570 scopus 로고    scopus 로고
    • Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder
    • Uddin M, Tammimies K, Pellecchia G, et al. Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder.Nat Genet. 2014;46(7):742-747.
    • (2014) Nat Genet , vol.46 , Issue.7 , pp. 742-747
    • Uddin, M.1    Tammimies, K.2    Pellecchia, G.3
  • 17
    • 84875898947 scopus 로고    scopus 로고
    • Autism spectrum disorder in the genetics clinic: A review
    • Carter MT, Scherer SW. Autism spectrum disorder in the genetics clinic: a review. Clin Genet. 2013;83(5):399-407.
    • (2013) Clin Genet , vol.83 , Issue.5 , pp. 399-407
    • Carter, M.T.1    Scherer, S.W.2
  • 18
    • 84952876190 scopus 로고    scopus 로고
    • Copy number variation in Han Chinese individuals with autism spectrum disorder
    • Gazzellone MJ, Zhou X, Lionel AC, et al. Copy number variation in Han Chinese individuals with autism spectrum disorder. J Neurodev Disord. 2014;6(1):34.
    • (2014) J Neurodev Disord , vol.6 , Issue.1 , pp. 34
    • Gazzellone, M.J.1    Zhou, X.2    Lionel, A.C.3
  • 19
    • 80051709029 scopus 로고    scopus 로고
    • Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD
    • Lionel AC, Crosbie J, Barbosa N, et al. Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD. Sci Transl Med. 2011;3(95):95ra75.
    • (2011) Sci Transl Med , vol.3 , Issue.95
    • Lionel, A.C.1    Crosbie, J.2    Barbosa, N.3
  • 20
    • 40749089626 scopus 로고    scopus 로고
    • Structural variation of chromosomes in autism spectrum disorder
    • Marshall CR, Noor A, Vincent JB, et al. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet. 2008;82(2):477-488.
    • (2008) Am J Hum Genet , vol.82 , Issue.2 , pp. 477-488
    • Marshall, C.R.1    Noor, A.2    Vincent, J.B.3
  • 21
    • 84899918742 scopus 로고    scopus 로고
    • Convergence of genes and cellular pathways dysregulated in autism spectrum disorders
    • Pinto D, Delaby E, Merico D, et al. Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet. 2014;94(5):677-694.
    • (2014) Am J Hum Genet , vol.94 , Issue.5 , pp. 677-694
    • Pinto, D.1    Delaby, E.2    Merico, D.3
  • 22
    • 79960812993 scopus 로고    scopus 로고
    • American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
    • Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med. 2011;13(7):680-685.
    • (2011) Genet Med , vol.13 , Issue.7 , pp. 680-685
    • Kearney, H.M.1    Thorland, E.C.2    Brown, K.K.3    Quintero-Rivera, F.4    South, S.T.5
  • 23
    • 84856256945 scopus 로고    scopus 로고
    • Detection and characterization of copy number variation in autism spectrum disorder
    • Marshall CR, Scherer SW. Detection and characterization of copy number variation in autism spectrum disorder. Methods Mol Biol. 2012;838:115-135.
    • (2012) Methods Mol Biol , vol.838 , pp. 115-135
    • Marshall, C.R.1    Scherer, S.W.2
  • 25
    • 84975742565 scopus 로고    scopus 로고
    • A map of human genome variation from population-scale sequencing
    • published correction in Nature. 2011;473(7348):544
    • Abecasis GR, Altshuler D, Auton A, et al; 1000 Genomes Project Consortium. A map of human genome variation from population-scale sequencing [published correction in Nature. 2011;473(7348):544]. Nature. 2010;467(7319):1061-1073.
    • (2010) Nature , vol.467 , Issue.7319 , pp. 1061-1073
    • Abecasis, G.R.1    Altshuler, D.2    Auton, A.3
  • 26
    • 84881664021 scopus 로고    scopus 로고
    • Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing
    • Jiang YH, Yuen RK, Jin X, et al. Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. Am J Hum Genet. 2013;93(2):249-263.
    • (2013) Am J Hum Genet , vol.93 , Issue.2 , pp. 249-263
    • Jiang, Y.H.1    Yuen, R.K.2    Jin, X.3
  • 27
    • 84928209346 scopus 로고    scopus 로고
    • Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
    • Richards S, Aziz N, Bale S, et al Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424.
    • (2015) Genet Med , vol.17 , Issue.5 , pp. 405-424
    • Richards, S.1    Aziz, N.2    Bale, S.3
  • 28
    • 84875931013 scopus 로고    scopus 로고
    • WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta
    • Pyott SM, Tran TT, Leistritz DF, et al. WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta. Am J Hum Genet. 2013;92(4):590-597.
    • (2013) Am J Hum Genet , vol.92 , Issue.4 , pp. 590-597
    • Pyott, S.M.1    Tran, T.T.2    Leistritz, D.F.3
  • 29
    • 84868616944 scopus 로고    scopus 로고
    • A review of the evidence for the canonical Wnt pathway in autism spectrum disorders
    • Kalkman HO. A review of the evidence for the canonical Wnt pathway in autism spectrum disorders. Mol Autism. 2012;3(1):10.
    • (2012) Mol Autism , vol.3 , Issue.1 , pp. 10
    • Kalkman, H.O.1
  • 30
    • 84891862457 scopus 로고    scopus 로고
    • Use of dysmorphology for subgroup classification on autism spectrum disorder in Chinese children
    • Wong VC, Fung CK, Wong PT. Use of dysmorphology for subgroup classification on autism spectrum disorder in Chinese children. J Autism Dev Disord. 2014;44(1):9-18.
    • (2014) J Autism Dev Disord , vol.44 , Issue.1 , pp. 9-18
    • Wong, V.C.1    Fung, C.K.2    Wong, P.T.3
  • 31
    • 78649635514 scopus 로고    scopus 로고
    • Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
    • Manning M, Hudgins L; Professional Practice and Guidelines Committee. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med. 2010;12(11):742-745.
    • (2010) Genet Med , vol.12 , Issue.11 , pp. 742-745
    • Manning, M.1    Hudgins, L.2
  • 32
    • 84871371945 scopus 로고    scopus 로고
    • The autism sequencing consortium: Large-scale, high-throughput sequencing in autism spectrum disorders
    • Buxbaum JD, Daly MJ, Devlin B, Lehner T, Roeder K, State MW; Autism Sequencing Consortium. The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders. Neuron. 2012;76(6):1052-1056.
    • (2012) Neuron , vol.76 , Issue.6 , pp. 1052-1056
    • Buxbaum, J.D.1    Daly, M.J.2    Devlin, B.3    Lehner, T.4    Roeder, K.5    State, M.W.6
  • 33
    • 84898772564 scopus 로고    scopus 로고
    • Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes
    • Lionel AC, Tammimies K, Vaags AK, et al. Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. Hum Mol Genet. 2014;23(10):2752-2768.
    • (2014) Hum Mol Genet , vol.23 , Issue.10 , pp. 2752-2768
    • Lionel, A.C.1    Tammimies, K.2    Vaags, A.K.3
  • 34
    • 84918840439 scopus 로고    scopus 로고
    • Clinical exome sequencing for genetic identification of rare Mendelian disorders
    • Lee H, Deignan JL, Dorrani N, et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA. 2014;312(18):1880-1887.
    • (2014) JAMA , vol.312 , Issue.18 , pp. 1880-1887
    • Lee, H.1    Deignan, J.L.2    Dorrani, N.3
  • 35
    • 84915803267 scopus 로고    scopus 로고
    • Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders
    • Soden SE, Saunders CJ, Willig LK, et al. Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. Sci Transl Med. 2014;6(265):265ra168.
    • (2014) Sci Transl Med , vol.6 , Issue.265
    • Soden, S.E.1    Saunders, C.J.2    Willig, L.K.3
  • 36
    • 84918771753 scopus 로고    scopus 로고
    • Molecular findings among patients referred for clinical whole-exome sequencing
    • Yang Y, Muzny DM, Xia F, et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014;312(18):1870-1879.
    • (2014) JAMA , vol.312 , Issue.18 , pp. 1870-1879
    • Yang, Y.1    Muzny, D.M.2    Xia, F.3
  • 37
    • 84879501979 scopus 로고    scopus 로고
    • Parents' perspectives on participating in genetic research in autism
    • Trottier M, Roberts W, Drmic I, et al. Parents' perspectives on participating in genetic research in autism. J Autism Dev Disord. 2013;43(3):556-568.
    • (2013) J Autism Dev Disord , vol.43 , Issue.3 , pp. 556-568
    • Trottier, M.1    Roberts, W.2    Drmic, I.3
  • 39
    • 84929954397 scopus 로고    scopus 로고
    • Diagnosis and management of autism spectrum disorder in the era of genomics: Rare disorders can pave the way for targeted treatments
    • Baker E, Jeste SS. Diagnosis and management of autism spectrum disorder in the era of genomics: rare disorders can pave the way for targeted treatments. Pediatr Clin North Am. 2015;62(3):607-618.
    • (2015) Pediatr Clin North Am , vol.62 , Issue.3 , pp. 607-618
    • Baker, E.1    Jeste, S.S.2
  • 41
    • 79959981749 scopus 로고    scopus 로고
    • Risk factors for autism: Translating genomic discoveries into diagnostics
    • Scherer SW, Dawson G. Risk factors for autism: translating genomic discoveries into diagnostics. Hum Genet. 2011;130(1):123-148.
    • (2011) Hum Genet , vol.130 , Issue.1 , pp. 123-148
    • Scherer, S.W.1    Dawson, G.2
  • 42
    • 84896518969 scopus 로고    scopus 로고
    • Autism spectrum disorder: Advances in evidence-based practice
    • Anagnostou E, Zwaigenbaum L, Szatmari P, et al. Autism spectrum disorder: advances in evidence-based practice. CMAJ. 2014;186(7):509-519.
    • (2014) CMAJ , vol.186 , Issue.7 , pp. 509-519
    • Anagnostou, E.1    Zwaigenbaum, L.2    Szatmari, P.3
  • 43
    • 84922290860 scopus 로고    scopus 로고
    • A molecular genetic study of autism and related phenotypes in extended pedigrees
    • Piven J, Vieland VJ, Parlier M, et al. A molecular genetic study of autism and related phenotypes in extended pedigrees. J Neurodev Disord. 2013;5(1):30.
    • (2013) J Neurodev Disord , vol.5 , Issue.1 , pp. 30
    • Piven, J.1    Vieland, V.J.2    Parlier, M.3
  • 44
    • 77954657070 scopus 로고    scopus 로고
    • Functional impact of global rare copy number variation in autism spectrum disorders
    • Pinto D, Pagnamenta AT, Klei L, et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature. 2010;466(7304):368-372.
    • (2010) Nature , vol.466 , Issue.7304 , pp. 368-372
    • Pinto, D.1    Pagnamenta, A.T.2    Klei, L.3
  • 45
    • 84922628604 scopus 로고    scopus 로고
    • Whole-genome sequencing of quartet families with autism spectrum disorder
    • Yuen RK, Thiruvahindrapuram B, Merico D, et al. Whole-genome sequencing of quartet families with autism spectrum disorder. Nat Med. 2015;21(2):185-191.
    • (2015) Nat Med , vol.21 , Issue.2 , pp. 185-191
    • Yuen, R.K.1    Thiruvahindrapuram, B.2    Merico, D.3
  • 46
    • 85027920121 scopus 로고    scopus 로고
    • Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations
    • di Rocco F, Baujat G, Arnaud E, et al. Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations. Eur J Hum Genet. 2014;22(12):1413-1416.
    • (2014) Eur J Hum Genet , vol.22 , Issue.12 , pp. 1413-1416
    • Di Rocco, F.1    Baujat, G.2    Arnaud, E.3
  • 47
    • 84930871930 scopus 로고    scopus 로고
    • Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: Identification and characterization of novel TCF12 variants
    • Paumard-Hernández B, Berges-Soria J, Barroso E, et al. Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.Eur J Hum Genet. 2015;23(7):907-914.
    • (2015) Eur J Hum Genet , vol.23 , Issue.7 , pp. 907-914
    • Paumard-Hernández, B.1    Berges-Soria, J.2    Barroso, E.3
  • 48
    • 84874626877 scopus 로고    scopus 로고
    • 500 Whole-Genome Sequences (WGS500) Consortium. Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
    • Sharma VP, Fenwick AL, Brockop MS, et al; 500 Whole-Genome Sequences (WGS500) Consortium. Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. Nat Genet. 2013;45(3):304-307.
    • (2013) Nat Genet , vol.45 , Issue.3 , pp. 304-307
    • Sharma, V.P.1    Fenwick, A.L.2    Brockop, M.S.3
  • 49
    • 84895920717 scopus 로고    scopus 로고
    • A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders
    • Jacquemont S, Coe BP, Hersch M, et al. A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders. Am J Hum Genet. 2014;94(3):415-425.
    • (2014) Am J Hum Genet , vol.94 , Issue.3 , pp. 415-425
    • Jacquemont, S.1    Coe, B.P.2    Hersch, M.3
  • 50
    • 84904465224 scopus 로고    scopus 로고
    • Genome sequencing identifies major causes of severe intellectual disability
    • Gilissen C, Hehir-Kwa JY, Thung DT, et al. Genome sequencing identifies major causes of severe intellectual disability. Nature. 2014;511(7509):344-347.
    • (2014) Nature , vol.511 , Issue.7509 , pp. 344-347
    • Gilissen, C.1    Hehir-Kwa, J.Y.2    Thung, D.T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.