William Dobyns to Nervous System Malformations
This is a "connection" page, showing publications William Dobyns has written about Nervous System Malformations.
Connection Strength
6.515
-
Undifferentiated psychosis or schizophrenia associated with vermis-predominant cerebellar hypoplasia. Am J Med Genet A. 2024 Mar; 194(3):e63416.
Score: 0.933
-
A developmental and genetic classification for midbrain-hindbrain malformations. Brain. 2009 Dec; 132(Pt 12):3199-230.
Score: 0.355
-
Malformations of cortical development and epilepsy. Dialogues Clin Neurosci. 2008; 10(1):47-62.
Score: 0.311
-
A developmental classification of malformations of the brainstem. Ann Neurol. 2007 Dec; 62(6):625-39.
Score: 0.309
-
A developmental and genetic classification for malformations of cortical development. Neurology. 2005 Dec 27; 65(12):1873-87.
Score: 0.266
-
Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis. AJNR Am J Neuroradiol. 2023 10; 44(10):1201-1207.
Score: 0.230
-
Lissencephaly and the molecular basis of neuronal migration. Hum Mol Genet. 2003 Apr 01; 12 Spec No 1:R89-96.
Score: 0.224
-
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. Am J Hum Genet. 2022 11 03; 109(11):2068-2079.
Score: 0.217
-
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders. Brain. 2022 09 14; 145(9):3274-3287.
Score: 0.215
-
A locus for bilateral perisylvian polymicrogyria maps to Xq28. Am J Hum Genet. 2002 Apr; 70(4):1003-8.
Score: 0.206
-
Classification system for malformations of cortical development: update 2001. Neurology. 2001 Dec 26; 57(12):2168-78.
Score: 0.205
-
ACTA2-Related Dysgyria: An Under-Recognized Malformation of Cortical Development. AJNR Am J Neuroradiol. 2022 01; 43(1):146-150.
Score: 0.204
-
Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. Neuropediatrics. 2001 Oct; 32(5):256-63.
Score: 0.202
-
Radiologic classification of malformations of cortical development. Curr Opin Neurol. 2001 Apr; 14(2):145-9.
Score: 0.195
-
Defining the phenotypical spectrum associated with variants in TUBB2A. J Med Genet. 2021 01; 58(1):33-40.
Score: 0.185
-
Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features. Eur J Paediatr Neurol. 2020 May; 26:46-60.
Score: 0.181
-
Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome. Neurology. 2000 Feb 22; 54(4):909-13.
Score: 0.180
-
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain. 2020 01 01; 143(1):55-68.
Score: 0.179
-
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019 08 01; 105(2):413-424.
Score: 0.173
-
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. Am J Hum Genet. 2018 12 06; 103(6):1009-1021.
Score: 0.165
-
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. Neuron. 2018 12 19; 100(6):1354-1368.e5.
Score: 0.165
-
Characterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric Clinicians. JAMA Pediatr. 2017 03 01; 171(3):288-295.
Score: 0.147
-
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes. Hum Mol Genet. 2015 Sep 15; 24(18):5313-25.
Score: 0.131
-
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
-
Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. Am J Hum Genet. 2013 Mar 07; 92(3):468-74.
Score: 0.111
-
Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families. Neurology. 2011 Jan 25; 76(4):373-82.
Score: 0.096
-
Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. Ann Neurol. 2005 Nov; 58(5):680-7.
Score: 0.067
-
Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype. J Med Genet. 2005 Dec; 42(12):913-21.
Score: 0.065
-
Interneuron deficits in patients with the Miller-Dieker syndrome. Acta Neuropathol. 2005 Apr; 109(4):400-4.
Score: 0.064
-
Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature. Neuropediatrics. 2003 Dec; 34(6):287-92.
Score: 0.059
-
Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. Neurology. 2003 Oct 28; 61(8):1042-6.
Score: 0.058
-
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. Brain. 2002 Nov; 125(Pt 11):2507-22.
Score: 0.054
-
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. Hum Mol Genet. 2000 Dec 12; 9(20):3019-28.
Score: 0.048
-
Genotype-phenotype correlation at codon 1740 of SETD2. Am J Med Genet A. 2020 09; 182(9):2037-2048.
Score: 0.046
-
Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum. Science. 2019 10 25; 366(6464):454-460.
Score: 0.044
-
Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics. Brain. 2019 04 01; 142(4):867-884.
Score: 0.042
-
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Hum Mol Genet. 1998 Dec; 7(13):2029-37.
Score: 0.041
-
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet. 2012 Feb 26; 44(4):440-4, S1-2.
Score: 0.026