-
1
-
-
0002073251
-
How common are the cerebral palsies?
-
Stanley F, Blair E, Alberman B (eds). Mac Keith Press: London, UK
-
Stanley F, Alberman B. How common are the cerebral palsies? In: Stanley F, Blair E, Alberman B (eds). Cerebral Palsies: Epidemiology and Causal Pathways. Mac Keith Press: London, UK, 2000, pp 22-48.
-
(2000)
Cerebral Palsies: Epidemiology and Causal Pathways
, pp. 22-48
-
-
Stanley, F.1
Alberman, B.2
-
2
-
-
34247869927
-
A report: The definition and classification of cerebral palsy April 2006
-
Rosenbaum P, Paneth N, Leviton A, Goldstein M, Bax M, Damiano D et al. A report: the definition and classification of cerebral palsy April 2006. Dev Med Child Neurol Suppl 2007; 109: 8-14.
-
(2007)
Dev Med Child Neurol Suppl
, vol.109
, pp. 8-14
-
-
Rosenbaum, P.1
Paneth, N.2
Leviton, A.3
Goldstein, M.4
Bax, M.5
Damiano, D.6
-
3
-
-
80052170655
-
Epidemiologic associations with cerebral palsy
-
O'Callaghan ME, MacLennan AH, Gibson C, McMichael G, Haan E, Broadbent J et al. Epidemiologic associations with cerebral palsy. Obstet Gynaecol 2011; 118: 576-582.
-
(2011)
Obstet Gynaecol
, vol.118
, pp. 576-582
-
-
O'Callaghan, M.E.1
MacLennan, A.H.2
Gibson, C.3
McMichael, G.4
Haan, E.5
Broadbent, J.6
-
5
-
-
84857058937
-
Genomic insights into the causes and classification of the cerebral palsies
-
Moreno-De-Luca A, Ledbetter DH, Martin CL. Genomic insights into the causes and classification of the cerebral palsies. Lancet Neurol 2012; 11: 283-292.
-
(2012)
Lancet Neurol
, vol.11
, pp. 283-292
-
-
Moreno-De-Luca, A.1
Ledbetter, D.H.2
Martin, C.L.3
-
6
-
-
0022608174
-
Antecedents of cerebral palsy. Multivariate analysis of risk
-
Nelson KB, Ellenberg JH. Antecedents of cerebral palsy. Multivariate analysis of risk. N Engl J Med 1986; 315: 81-86.
-
(1986)
N Engl J Med
, vol.315
, pp. 81-86
-
-
Nelson, K.B.1
Ellenberg, J.H.2
-
7
-
-
84877583900
-
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity
-
Hirata H, Nanda I, van Riesen A, McMichael G, Hu H, Hambrock M et al. ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. Am J Hum Genet 2013; 92: 681-695.
-
(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
Hambrock, M.6
-
8
-
-
79551651120
-
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability
-
Moreno-De-Luca A, Helmers SL, Mao H, Burns TG, Melton AM, Schmidt KR et al. Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability. J Med Genet 2011; 48: 141-144.
-
(2011)
J Med Genet
, vol.48
, pp. 141-144
-
-
Moreno-De-Luca, A.1
Helmers, S.L.2
Mao, H.3
Burns, T.G.4
Melton, A.M.5
Schmidt, K.R.6
-
9
-
-
84904335392
-
Familial risk of cerebral palsy: Population based cohort study
-
Tollanes MC, Wilcox AJ, Lie RT, Moster D. Familial risk of cerebral palsy: population based cohort study. BMJ 2014; 349: g4294.
-
(2014)
BMJ
, vol.349
, pp. g4294
-
-
Tollanes, M.C.1
Wilcox, A.J.2
Lie, R.T.3
Moster, D.4
-
10
-
-
84856513041
-
Fetal and maternal candidate single nucleotide polymorphism associations with cerebral palsy: A case-control study
-
O'Callaghan ME, MacLennan AH, Gibson CS, McMichael GL, Haan EA, Broadbent JL et al. Fetal and maternal candidate single nucleotide polymorphism associations with cerebral palsy: a case-control study. Pediatrics 2012; 129: e414-e423.
-
(2012)
Pediatrics
, vol.129
, pp. e414-e423
-
-
O'Callaghan, M.E.1
MacLennan, A.H.2
Gibson, C.S.3
McMichael, G.L.4
Haan, E.A.5
Broadbent, J.L.6
-
11
-
-
84890791333
-
Rare copy number variation in cerebral palsy
-
McMichael G, Girirajan S, Moreno-De-Luca A, Gecz J, Shard C, Nguyen LS et al. Rare copy number variation in cerebral palsy. Eur J Hum Genet 2013; 22: 40-45.
-
(2013)
Eur J Hum Genet
, vol.22
, pp. 40-45
-
-
McMichael, G.1
Girirajan, S.2
Moreno-De-Luca, A.3
Gecz, J.4
Shard, C.5
Nguyen, L.S.6
-
12
-
-
84868686559
-
Diagnostic exome sequencing in persons with severe intellectual disability
-
de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Eng J Med 2012; 367: 1921-1929.
-
(2012)
N Eng J Med
, vol.367
, pp. 1921-1929
-
-
De Ligt, J.1
Willemsen, M.H.2
Van Bon, B.W.3
Kleefstra, T.4
Yntema, H.G.5
Kroes, T.6
-
13
-
-
84868543309
-
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: An exome sequencing study
-
Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 2012; 380: 1674-1682.
-
(2012)
Lancet
, vol.380
, pp. 1674-1682
-
-
Rauch, A.1
Wieczorek, D.2
Graf, E.3
Wieland, T.4
Endele, S.5
Schwarzmayr, T.6
-
14
-
-
84860780495
-
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
-
Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 2012; 485: 237-241.
-
(2012)
Nature
, vol.485
, pp. 237-241
-
-
Sanders, S.J.1
Murtha, M.T.2
Gupta, A.R.3
Murdoch, J.D.4
Raubeson, M.J.5
Willsey, A.J.6
-
15
-
-
84870489243
-
De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia
-
Xu B, Ionita-Laza I, Roos JL, Boone B, Woodrick S, Sun Y et al. De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia. Nat Genet 2012; 44: 1365-1369.
-
(2012)
Nat Genet
, vol.44
, pp. 1365-1369
-
-
Xu, B.1
Ionita-Laza, I.2
Roos, J.L.3
Boone, B.4
Woodrick, S.5
Sun, Y.6
-
16
-
-
0031718487
-
What constitutes cerebral palsy?
-
Badawi N, Watson L, Petterson B, Blair E, Slee J, Haan E et al. What constitutes cerebral palsy? Dev Med Child Neurol 1998; 40: 520-527.
-
(1998)
Dev Med Child Neurol
, vol.40
, pp. 520-527
-
-
Badawi, N.1
Watson, L.2
Petterson, B.3
Blair, E.4
Slee, J.5
Haan, E.6
-
17
-
-
79960572198
-
Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities
-
Bainbridge MN, Wang M, Wu Y, Newsham I, Muzny DM, Jefferies JL et al. Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities. Genome Biol 2011; 12: R68.
-
(2011)
Genome Biol
, vol.12
, pp. R68
-
-
Bainbridge, M.N.1
Wang, M.2
Wu, Y.3
Newsham, I.4
Muzny, D.M.5
Jefferies, J.L.6
-
18
-
-
84873275502
-
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome
-
Bainbridge MN, Hu H, Muzny DM, Musante L, Lupski JR, Graham BH et al. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Genome Med 2013; 5: 11.
-
(2013)
Genome Med
, vol.5
, pp. 11
-
-
Bainbridge, M.N.1
Hu, H.2
Muzny, D.M.3
Musante, L.4
Lupski, J.R.5
Graham, B.H.6
-
19
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009; 25: 1754-1760.
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
20
-
-
79955483667
-
A framework for variation discovery and genotyping using next-generation DNA sequencing data
-
DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nature Genet 2011; 43: 491-498.
-
(2011)
Nature Genet
, vol.43
, pp. 491-498
-
-
DePristo, M.A.1
Banks, E.2
Poplin, R.3
Garimella, K.V.4
Maguire, J.R.5
Hartl, C.6
-
21
-
-
84899476119
-
Guidelines for investigating causality of sequence variants in human disease
-
MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR et al. Guidelines for investigating causality of sequence variants in human disease. Nature 2014; 508: 469-476.
-
(2014)
Nature
, vol.508
, pp. 469-476
-
-
MacArthur, D.G.1
Manolio, T.A.2
Dimmock, D.P.3
Rehm, H.L.4
Shendure, J.5
Abecasis, G.R.6
-
22
-
-
84884592445
-
Genic intolerance to functional variation and the interpretation of personal genomes
-
Petrovski S, Wang Q, Heinzen EL, Allen AS, Goldstein DB. Genic intolerance to functional variation and the interpretation of personal genomes. PLoS Genet 2013; 9: e1003709.
-
(2013)
PLoS Genet
, vol.9
, pp. e1003709
-
-
Petrovski, S.1
Wang, Q.2
Heinzen, E.L.3
Allen, A.S.4
Goldstein, D.B.5
-
23
-
-
84895858942
-
A general framework for estimating the relative pathogenicity of human genetic variants
-
Kircher M, Witten DM, Jain P, O'Roak BJ, Cooper GM., Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nature Genet 2014; 46: 310-315.
-
(2014)
Nature Genet
, vol.46
, pp. 310-315
-
-
Kircher, M.1
Witten, D.M.2
Jain, P.3
O'Roak, B.J.4
Cooper, G.M.5
Shendure, J.6
-
24
-
-
84878799611
-
Predicting functional effect of human missense mutations using PolyPhen-2
-
Chapter 7: Unit720
-
Adzhubei I, Jordan DM, Sunyaev SR. Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet 2013; Chapter 7: Unit720.
-
(2013)
Curr Protoc Hum Genet
-
-
Adzhubei, I.1
Jordan, D.M.2
Sunyaev, S.R.3
-
25
-
-
77955151784
-
MutationTaster evaluates disease-causing potential of sequence alterations
-
Schwarz JM, Rodelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nature Methods 2010; 7: 575-576.
-
(2010)
Nature Methods
, vol.7
, pp. 575-576
-
-
Schwarz, J.M.1
Rodelsperger, C.2
Schuelke, M.3
Seelow, D.4
-
26
-
-
78449263023
-
Characterising and predicting haploinsufficiency in the human genome
-
Huang N, Lee I, Marcotte EM, Hurles ME. Characterising and predicting haploinsufficiency in the human genome. PLoS Genet 2010; 6: e1001154.
-
(2010)
PLoS Genet
, vol.6
, pp. e1001154
-
-
Huang, N.1
Lee, I.2
Marcotte, E.M.3
Hurles, M.E.4
-
27
-
-
84860712363
-
Patterns and rates of exonic de novo mutations in autism spectrum disorders
-
Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 2012; 485: 242-245.
-
(2012)
Nature
, vol.485
, pp. 242-245
-
-
Neale, B.M.1
Kou, Y.2
Liu, L.3
Ma'ayan, A.4
Samocha, K.E.5
Sabo, A.6
-
28
-
-
84860741138
-
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
-
O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 2012; 485: 246-250.
-
(2012)
Nature
, vol.485
, pp. 246-250
-
-
O'Roak, B.J.1
Vives, L.2
Girirajan, S.3
Karakoc, E.4
Krumm, N.5
Coe, B.P.6
-
29
-
-
77149178699
-
Identification and characterization of two novel JARID1C mutations: Suggestion of an emerging genotype-phenotype correlation
-
Rujirabanjerd S, Nelson J, Tarpey PS, Hackett A, Edkins S, Raymond FL et al. Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation. Eur J Hum Genet 2010; 18: 330-335.
-
(2010)
Eur J Hum Genet
, vol.18
, pp. 330-335
-
-
Rujirabanjerd, S.1
Nelson, J.2
Tarpey, P.S.3
Hackett, A.4
Edkins, S.5
Raymond, F.L.6
-
30
-
-
33745281204
-
Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation
-
Trudeau MM, Dalton JC, Day JW, Ranum LP, Meisler MH. Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. J Med Genet 2006; 43: 527-530.
-
(2006)
J Med Genet
, vol.43
, pp. 527-530
-
-
Trudeau, M.M.1
Dalton, J.C.2
Day, J.W.3
Ranum, L.P.4
Meisler, M.H.5
-
31
-
-
84875050056
-
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria
-
Poirier K, Saillour Y, Fourniol F, Francis F, Souville I, Valence S et al. Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria. Eur J Hum Genet 2013; 21: 381-385.
-
(2013)
Eur J Hum Genet
, vol.21
, pp. 381-385
-
-
Poirier, K.1
Saillour, Y.2
Fourniol, F.3
Francis, F.4
Souville, I.5
Valence, S.6
-
32
-
-
0041695457
-
Specific regulation of the adaptor protein complex AP-3 by the Arf GAP AGAP1
-
Nie Z, Boehm M, Boja ES, Vass WC, Bonifacino JS, Fales HM et al. Specific regulation of the adaptor protein complex AP-3 by the Arf GAP AGAP1. Dev Cell 2003; 5: 513-521.
-
(2003)
Dev Cell
, vol.5
, pp. 513-521
-
-
Nie, Z.1
Boehm, M.2
Boja, E.S.3
Vass, W.C.4
Bonifacino, J.S.5
Fales, H.M.6
-
33
-
-
0030858735
-
CRASH syndrome: Mutations in L1CAM correlate with severity of the disease
-
Yamasaki M, Thompson P, Lemmon V. CRASH syndrome: mutations in L1CAM correlate with severity of the disease. Neuropediatrics 1997; 28: 175-178.
-
(1997)
Neuropediatrics
, vol.28
, pp. 175-178
-
-
Yamasaki, M.1
Thompson, P.2
Lemmon, V.3
-
34
-
-
33750906742
-
Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome
-
Stum M, Davoine CS, Vicart S, Guillot-Noel L, Topaloglu H, Carod-Artal FJ et al. Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome. Human Mutat 2006; 27: 1082-1091.
-
(2006)
Human Mutat
, vol.27
, pp. 1082-1091
-
-
Stum, M.1
Davoine, C.S.2
Vicart, S.3
Guillot-Noel, L.4
Topaloglu, H.5
Carod-Artal, F.J.6
-
35
-
-
33745617735
-
An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation
-
Rajab A, Yoo SY, Abdulgalil A, Kathiri S, Ahmed R, Mochida GH et al. An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation. Am J Med Genet A 2006; 140: 1504-1510.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 1504-1510
-
-
Rajab, A.1
Yoo, S.Y.2
Abdulgalil, A.3
Kathiri, S.4
Ahmed, R.5
Mochida, G.H.6
-
36
-
-
84892914672
-
Mutations in gamma adducin are associated with inherited cerebral palsy
-
Kruer MC, Jepperson T, Dutta S, Steiner RD, Cottenie E, Sanford L et al. Mutations in gamma adducin are associated with inherited cerebral palsy. Ann Neurol 2013; 74: 805-814.
-
(2013)
Ann Neurol
, vol.74
, pp. 805-814
-
-
Kruer, M.C.1
Jepperson, T.2
Dutta, S.3
Steiner, R.D.4
Cottenie, E.5
Sanford, L.6
-
37
-
-
84901472048
-
The wide spectrum of tubulinopathies: What are the key features for the diagnosis?
-
Bahi-Buisson N, Poirier K, Fourniol F, Saillour Y, Valence S, Lebrun N et al. The wide spectrum of tubulinopathies: what are the key features for the diagnosis? Brain 2014; 137: 1676-1700.
-
(2014)
Brain
, vol.137
, pp. 1676-1700
-
-
Bahi-Buisson, N.1
Poirier, K.2
Fourniol, F.3
Saillour, Y.4
Valence, S.5
Lebrun, N.6
-
38
-
-
84902349968
-
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype
-
Magini P, Pippucci T, Tsai IC, Coppola S, Stellacci E, Bartoletti-Stella A et al. A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype. Hum Mol Genet 2014; 23: 3607-3617.
-
(2014)
Hum Mol Genet
, vol.23
, pp. 3607-3617
-
-
Magini, P.1
Pippucci, T.2
Tsai, I.C.3
Coppola, S.4
Stellacci, E.5
Bartoletti-Stella, A.6
-
39
-
-
84872814280
-
Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C
-
Grafodatskaya D, Chung BH, Butcher DT, Turinsky AL, Goodman SJ, Choufani S et al. Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C. BMC Med Genomics 2013; 6: 1.
-
(2013)
BMC Med Genomics
, vol.6
, pp. 1
-
-
Grafodatskaya, D.1
Chung, B.H.2
Butcher, D.T.3
Turinsky, A.L.4
Goodman, S.J.5
Choufani, S.6
-
40
-
-
19944430270
-
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
-
Jensen LR, Amende M, Gurok U, Moser B, Gimmel V, Tzschach A et al. Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Am J Hum Genet 2005; 76: 227-236.
-
(2005)
Am J Hum Genet
, vol.76
, pp. 227-236
-
-
Jensen, L.R.1
Amende, M.2
Gurok, U.3
Moser, B.4
Gimmel, V.5
Tzschach, A.6
-
41
-
-
54049085347
-
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations
-
Bahi-Buisson N, Poirier K, Boddaert N, Saillour Y, Castelnau L, Philip N et al. Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations. J Med Genet 2008; 45: 647-653.
-
(2008)
J Med Genet
, vol.45
, pp. 647-653
-
-
Bahi-Buisson, N.1
Poirier, K.2
Boddaert, N.3
Saillour, Y.4
Castelnau, L.5
Philip, N.6
-
42
-
-
35648991438
-
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)
-
Poirier K, Keays DA, Francis F, Saillour Y, Bahi N, Manouvrier S et al. Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Human Mutat 2007; 28: 1055-1064.
-
(2007)
Human Mutat
, vol.28
, pp. 1055-1064
-
-
Poirier, K.1
Keays, D.A.2
Francis, F.3
Saillour, Y.4
Bahi, N.5
Manouvrier, S.6
-
43
-
-
84858070732
-
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP
-
Veeramah KR, O'Brien JE, Meisler MH, Cheng X, Dib-Hajj SD, Waxman SG et al. De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. Am J Hum Genet 2012; 90: 502-510.
-
(2012)
Am J Hum Genet
, vol.90
, pp. 502-510
-
-
Veeramah, K.R.1
O'Brien, J.E.2
Meisler, M.H.3
Cheng, X.4
Dib-Hajj, S.D.5
Waxman, S.G.6
-
44
-
-
54549111216
-
A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features
-
Rejeb I, Saillour Y, Castelnau L, Julien C, Bienvenu T, Taga P et al. A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features. Eur J hum Genet 2008; 16: 1358-1363.
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 1358-1363
-
-
Rejeb, I.1
Saillour, Y.2
Castelnau, L.3
Julien, C.4
Bienvenu, T.5
Taga, P.6
-
45
-
-
78650050566
-
Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy
-
Klitten LL, Moller RS, Ravn K, Hjalgrim H, Tommerup N. Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy. Eur J Hum Genet 2011; 19: 1-2.
-
(2011)
Eur J Hum Genet
, vol.19
, pp. 1-2
-
-
Klitten, L.L.1
Moller, R.S.2
Ravn, K.3
Hjalgrim, H.4
Tommerup, N.5
-
46
-
-
2442576086
-
Genetic basis of developmental malformations of the cerebral cortex
-
Mochida GH, Walsh CA. Genetic basis of developmental malformations of the cerebral cortex. Arch Neurol 2004; 61: 637-640.
-
(2004)
Arch Neurol
, vol.61
, pp. 637-640
-
-
Mochida, G.H.1
Walsh, C.A.2
-
47
-
-
84871448593
-
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders
-
O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG et al. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science 2012; 338: 1619-1622.
-
(2012)
Science
, vol.338
, pp. 1619-1622
-
-
O'Roak, B.J.1
Vives, L.2
Fu, W.3
Egertson, J.D.4
Stanaway, I.B.5
Phelps, I.G.6
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