메뉴 건너뛰기




Volumn 5, Issue 1, 2014, Pages

Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders

Author keywords

Autism spectrum disorder (ASD); Identical by descent (IBD); Single nucleotide variant (SNV); Whole exome sequencing

Indexed keywords


EID: 84892383122     PISSN: None     EISSN: 20402392     Source Type: Journal    
DOI: 10.1186/2040-2392-5-1     Document Type: Article
Times cited : (168)

References (73)
  • 2
    • 79952313620 scopus 로고    scopus 로고
    • Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting
    • 21129364
    • Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Betancur C, Brain Res 2011 1380 42 77 21129364
    • (2011) Brain Res , vol.1380 , pp. 42-77
    • Betancur, C.1
  • 3
    • 84859394070 scopus 로고    scopus 로고
    • Prevalence of autism spectrum disorders - Autism and developmental disabilities monitoring network, 14 sites, United States, 2008
    • Disabilities Monitoring Network Surveillance Year
    • Prevalence of autism spectrum disorders-autism and developmental disabilities monitoring network, 14 sites, United States, 2008. Autism and Developmental Disabilities Monitoring Network Surveillance Year, MMWR Surveill Summ 2008 2012 61 1 19
    • (2008) MMWR Surveill Summ , vol.2012 , Issue.61 , pp. 1-19
  • 4
    • 77951702343 scopus 로고    scopus 로고
    • Genetic heterogeneity in human disease
    • 10.1016/j.cell.2010.03.032 20403315
    • Genetic heterogeneity in human disease. McClellan J, King MC, Cell 2010 141 210 217 10.1016/j.cell.2010.03.032 20403315
    • (2010) Cell , vol.141 , pp. 210-217
    • McClellan, J.1    King, M.C.2
  • 5
    • 82255192290 scopus 로고    scopus 로고
    • The conundrums of understanding genetic risks for autism spectrum disorders
    • 10.1038/nn.2924 22037497
    • The conundrums of understanding genetic risks for autism spectrum disorders. State MW, Levitt P, Nat Neurosci 2011 14 1499 1506 10.1038/nn.2924 22037497
    • (2011) Nat Neurosci , vol.14 , pp. 1499-1506
    • State, M.W.1    Levitt, P.2
  • 6
    • 84858434210 scopus 로고    scopus 로고
    • CNVs: Harbingers of a rare variant revolution in psychiatric genetics
    • 10.1016/j.cell.2012.02.039 22424231
    • CNVs: harbingers of a rare variant revolution in psychiatric genetics. Malhotra D, Sebat J, Cell 2012 148 1223 1241 10.1016/j.cell.2012.02.039 22424231
    • (2012) Cell , vol.148 , pp. 1223-1241
    • Malhotra, D.1    Sebat, J.2
  • 7
    • 77952818259 scopus 로고    scopus 로고
    • Genetic overlap between autism, schizophrenia and bipolar disorder
    • 10.1186/gm102 19886976
    • Genetic overlap between autism, schizophrenia and bipolar disorder. Carroll LS, Owen MJ, Genome Med 2009 1 102 10.1186/gm102 19886976
    • (2009) Genome Med , vol.1 , pp. 102
    • Carroll, L.S.1    Owen, M.J.2
  • 22
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows-Wheeler transform
    • 10.1093/bioinformatics/btp324 19451168
    • Fast and accurate short read alignment with Burrows-Wheeler transform. Li H, Durbin R, Bioinformatics 2009 25 1754 1760 10.1093/bioinformatics/btp324 19451168
    • (2009) Bioinformatics , vol.25 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 25
    • 84895065825 scopus 로고    scopus 로고
    • [ http://snp.gs.washington.edu/SeattleSeqAnnotation137/ ]
    • SeattleSeq. [ http://snp.gs.washington.edu/SeattleSeqAnnotation137/ ]
    • SeattleSeq
  • 27
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • 10.1038/nprot.2009.86 19561590
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Kumar P, Henikoff S, Ng PC, Nat Protoc 2009 4 1073 1081 10.1038/nprot.2009.86 19561590
    • (2009) Nat Protoc , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 31
    • 0036338150 scopus 로고    scopus 로고
    • Merlin-rapid analysis of dense genetic maps using sparse gene flow trees
    • 10.1038/ng786 11731797
    • Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Abecasis GR, Cherny SS, Cookson WO, Cardon LR, Nat Genet 2002 30 97 101 10.1038/ng786 11731797
    • (2002) Nat Genet , vol.30 , pp. 97-101
    • Abecasis, G.R.1    Cherny, S.S.2    Cookson, W.O.3    Cardon, L.R.4
  • 36
    • 77949441465 scopus 로고    scopus 로고
    • SFARI Gene: An evolving database for the autism research community
    • 10.1242/dmm.005439 20212079
    • SFARI Gene: an evolving database for the autism research community. Banerjee-Basu S, Packer A, Dis Model Mech 2010 3 133 135 10.1242/dmm.005439 20212079
    • (2010) Dis Model Mech , vol.3 , pp. 133-135
    • Banerjee-Basu, S.1    Packer, A.2
  • 39
    • 78149296423 scopus 로고    scopus 로고
    • CEP290, a gene with many faces: Mutation overview and presentation of CEP290base
    • 10.1002/humu.21337 20690115
    • CEP290, a gene with many faces: mutation overview and presentation of CEP290base. Coppieters F, Lefever S, Leroy BP, De Baere E, Hum Mutat 2010 31 1097 1108 10.1002/humu.21337 20690115
    • (2010) Hum Mutat , vol.31 , pp. 1097-1108
    • Coppieters, F.1    Lefever, S.2    Leroy, B.P.3    De Baere, E.4
  • 42
    • 84871270974 scopus 로고    scopus 로고
    • Validation of schizophrenia-associated genes CSMD1, C10orf26, CACNA1C and TCF4 as miR-137 targets
    • 22182936
    • Validation of schizophrenia-associated genes CSMD1, C10orf26, CACNA1C and TCF4 as miR-137 targets. Kwon E, Wang W, Tsai LH, Mol Psychiatry 2011 18 11 12 22182936
    • (2011) Mol Psychiatry , vol.18 , pp. 11-12
    • Kwon, E.1    Wang, W.2    Tsai, L.H.3
  • 45
    • 84872306469 scopus 로고    scopus 로고
    • Novel copy number variants in children with autism and additional developmental anomalies
    • 10.1007/s11689-009-9013-z 21547721
    • Novel copy number variants in children with autism and additional developmental anomalies. Davis LK, Meyer KJ, Rudd DS, Librant AL, Epping EA, Sheffield VC, Wassink TH, J Neurodev Disord 2009 1 292 301 10.1007/s11689-009- 9013-z 21547721
    • (2009) J Neurodev Disord , vol.1 , pp. 292-301
    • Davis, L.K.1    Meyer, K.J.2    Rudd, D.S.3    Librant, A.L.4    Epping, E.A.5    Sheffield, V.C.6    Wassink, T.H.7
  • 46
    • 3142701373 scopus 로고    scopus 로고
    • Regulation of SNAREs by tomosyn and ROCK: Implication in extension and retraction of neurites
    • 10.1083/jcb.200405002 15240567
    • Regulation of SNAREs by tomosyn and ROCK: implication in extension and retraction of neurites. Sakisaka T, Baba T, Tanaka S, Izumi G, Yasumi M, Takai Y, J Cell Biol 2004 166 17 25 10.1083/jcb.200405002 15240567
    • (2004) J Cell Biol , vol.166 , pp. 17-25
    • Sakisaka, T.1    Baba, T.2    Tanaka, S.3    Izumi, G.4    Yasumi, M.5    Takai, Y.6
  • 47
    • 34548684134 scopus 로고    scopus 로고
    • Mouse Prickle1 and Prickle2 are expressed in postmitotic neurons and promote neurite outgrowth
    • 10.1016/j.febslet.2007.08.075 17868671
    • Mouse Prickle1 and Prickle2 are expressed in postmitotic neurons and promote neurite outgrowth. Okuda H, Miyata S, Mori Y, Tohyama M, FEBS Lett 2007 581 4754 4760 10.1016/j.febslet.2007.08.075 17868671
    • (2007) FEBS Lett , vol.581 , pp. 4754-4760
    • Okuda, H.1    Miyata, S.2    Mori, Y.3    Tohyama, M.4
  • 49
    • 81255171519 scopus 로고    scopus 로고
    • Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects
    • 10.1002/humu.21589 21901791
    • Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects. Bosoi CM, Capra V, Allache R, Trinh VQ, De Marco P, Merello E, Drapeau P, Bassuk AG, Kibar Z, Hum Mutat 2011 32 1371 1375 10.1002/humu.21589 21901791
    • (2011) Hum Mutat , vol.32 , pp. 1371-1375
    • Bosoi, C.M.1    Capra, V.2    Allache, R.3    Trinh, V.Q.4    De Marco, P.5    Merello, E.6    Drapeau, P.7    Bassuk, A.G.8    Kibar, Z.9
  • 53
    • 0344304798 scopus 로고    scopus 로고
    • Dorz1, a novel gene expressed in differentiating cerebellar granule neurons, is down-regulated in Zic1-deficient mouse
    • 10.1016/j.molbrainres.2003.10.004 14667578
    • Dorz1, a novel gene expressed in differentiating cerebellar granule neurons, is down-regulated in Zic1-deficient mouse. Hoshino J, Aruga J, Ishiguro A, Mikoshiba K, Brain Res Mol Brain Res 2003 120 57 64 10.1016/j.molbrainres. 2003.10.004 14667578
    • (2003) Brain Res Mol Brain Res , vol.120 , pp. 57-64
    • Hoshino, J.1    Aruga, J.2    Ishiguro, A.3    Mikoshiba, K.4
  • 64
    • 1542407037 scopus 로고    scopus 로고
    • Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy
    • 10.1136/jmg.2003.013680 14985377
    • Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy. Garcia CC, Blair HJ, Seager M, Coulthard A, Tennant S, Buddles M, Curtis A, Goodship JA, J Med Genet 2004 41 183 186 10.1136/jmg.2003.013680 14985377
    • (2004) J Med Genet , vol.41 , pp. 183-186
    • Garcia, C.C.1    Blair, H.J.2    Seager, M.3    Coulthard, A.4    Tennant, S.5    Buddles, M.6    Curtis, A.7    Goodship, J.A.8
  • 68
    • 84864719369 scopus 로고    scopus 로고
    • The ins and outs of GluD2-why and how Purkinje cells use the special glutamate receptor
    • 10.1007/s12311-011-0328-4 22113500
    • The ins and outs of GluD2-why and how Purkinje cells use the special glutamate receptor. Yuzaki M, Cerebellum 2012 11 438 439 10.1007/s12311-011- 0328-4 22113500
    • (2012) Cerebellum , vol.11 , pp. 438-439
    • Yuzaki, M.1
  • 72
    • 33846169692 scopus 로고    scopus 로고
    • Febrile seizures are associated with mutation of seizure-related (SEZ) 6, a brain-specific gene
    • 10.1002/jnr.21103 17086543
    • Febrile seizures are associated with mutation of seizure-related (SEZ) 6, a brain-specific gene. Yu ZL, Jiang JM, Wu DH, Xie HJ, Jiang JJ, Zhou L, Peng L, Bao GS, J Neurosci Res 2007 85 166 172 10.1002/jnr.21103 17086543
    • (2007) J Neurosci Res , vol.85 , pp. 166-172
    • Yu, Z.L.1    Jiang, J.M.2    Wu, D.H.3    Xie, H.J.4    Jiang, J.J.5    Zhou, L.6    Peng, L.7    Bao, G.S.8
  • 73
    • 64649104580 scopus 로고    scopus 로고
    • Genetics of autism spectrum disorders
    • 10.1007/s11910-009-0029-2 19348707
    • Genetics of autism spectrum disorders. Kumar RA, Christian SL, Curr Neurol Neurosci Rep 2009 9 188 197 10.1007/s11910-009-0029-2 19348707
    • (2009) Curr Neurol Neurosci Rep , vol.9 , pp. 188-197
    • Kumar, R.A.1    Christian, S.L.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.