William Dobyns to Malformations of Cortical Development
This is a "connection" page, showing publications William Dobyns has written about Malformations of Cortical Development.
Connection Strength
5.735
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Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA Neurol. 2016 07 01; 73(7):836-845.
Score: 0.563
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Malformations of cortical development: clinical features and genetic causes. Lancet Neurol. 2014 Jul; 13(7):710-26.
Score: 0.487
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A developmental and genetic classification for malformations of cortical development: update 2012. Brain. 2012 May; 135(Pt 5):1348-69.
Score: 0.418
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Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. Brain. 2010 May; 133(Pt 5):1415-27.
Score: 0.366
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Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes. Am J Med Genet A. 2009 May; 149A(5):868-76.
Score: 0.343
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Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. Am J Med Genet A. 2008 Jul 01; 146A(13):1637-54.
Score: 0.323
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No major role for the EMX2 gene in schizencephaly. Am J Med Genet A. 2008 May 01; 146A(9):1142-50.
Score: 0.320
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Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care. Brain. 2022 04 29; 145(3):925-938.
Score: 0.211
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International consensus recommendations on the diagnostic work-up for malformations of cortical development. Nat Rev Neurol. 2020 11; 16(11):618-635.
Score: 0.188
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Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome? Am J Med Genet A. 2020 10; 182(10):2207-2213.
Score: 0.187
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Duplication 2p16 is associated with perisylvian polymicrogyria. Am J Med Genet A. 2019 12; 179(12):2343-2356.
Score: 0.177
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Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. Neuron. 2018 12 19; 100(6):1354-1368.e5.
Score: 0.166
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Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria. Neuromuscul Disord. 2016 11; 26(11):744-748.
Score: 0.143
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PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. JCI Insight. 2016 06 16; 1(9).
Score: 0.140
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Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. Lancet Neurol. 2015 Dec; 14(12):1182-95.
Score: 0.134
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Malformations of cortical development and epilepsy. Cold Spring Harb Perspect Med. 2015 May 01; 5(5):a022392.
Score: 0.130
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PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. Brain. 2015 Jun; 138(Pt 6):1613-28.
Score: 0.128
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De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nat Genet. 2014 May; 46(5):510-515.
Score: 0.121
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Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. PLoS Genet. 2013; 9(10):e1003823.
Score: 0.116
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Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. Brain. 2013 Feb; 136(Pt 2):536-48.
Score: 0.111
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RTTN mutations link primary cilia function to organization of the human cerebral cortex. Am J Hum Genet. 2012 Sep 07; 91(3):533-40.
Score: 0.108
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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet. 2012 Jun 24; 44(8):934-40.
Score: 0.107
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Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. Am J Med Genet A. 2012 Feb; 158A(2):269-91.
Score: 0.103
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Polymicrogyria includes fusion of the molecular layer and decreased neuronal populations but normal cortical laminar organization. J Neuropathol Exp Neurol. 2011 Jun; 70(6):438-43.
Score: 0.099
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Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. Am J Hum Genet. 2010 Sep 10; 87(3):354-64.
Score: 0.094
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Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus. Am J Med Genet A. 2010 Jun; 152A(6):1488-97.
Score: 0.092
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Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype. Am J Med Genet A. 2008 Dec 15; 146A(24):3173-80.
Score: 0.083
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Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options. Trends Neurosci. 2008 Mar; 31(3):154-62.
Score: 0.079
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Malformations of cortical development and epilepsy. Dialogues Clin Neurosci. 2008; 10(1):47-62.
Score: 0.078
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Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case. Neuropediatrics. 2007 Aug; 38(4):200-3.
Score: 0.076
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Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics. Brain. 2019 04 01; 142(4):867-884.
Score: 0.043