William Dobyns to Animals
This is a "connection" page, showing publications William Dobyns has written about Animals.
Connection Strength
0.725
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The Genetic Landscape of Cerebral Steno-Occlusive Arteriopathy and Stroke in Sickle Cell Anemia. J Stroke Cerebrovasc Dis. 2018 Nov; 27(11):2897-2904.
Score: 0.042
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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: 0.036
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Infantile hydrocephalus: a review of epidemiology, classification and causes. Eur J Med Genet. 2014 Aug; 57(8):359-68.
Score: 0.032
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Malformations of cortical development: clinical features and genetic causes. Lancet Neurol. 2014 Jul; 13(7):710-26.
Score: 0.032
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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: 0.021
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Flores hominid: new species or microcephalic dwarf? Anat Rec A Discov Mol Cell Evol Biol. 2006 Nov; 288(11):1123-45.
Score: 0.019
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Comment on "The Brain of LB1, Homo floresiensis". Science. 2006 May 19; 312(5776):999; author reply 999.
Score: 0.018
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The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked. Acta Paediatr Suppl. 2006 Apr; 95(451):11-5.
Score: 0.018
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TMEM161B modulates radial glial scaffolding in neocortical development. Proc Natl Acad Sci U S A. 2023 01 24; 120(4):e2209983120.
Score: 0.014
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Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. Am J Hum Genet. 2022 11 03; 109(11):2068-2079.
Score: 0.014
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Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability. J Neurophysiol. 2022 07 01; 128(1):40-61.
Score: 0.014
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NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain. Mol Cell. 2021 11 18; 81(22):4663-4676.e8.
Score: 0.013
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LIS1: from cortical malformation to essential protein of cellular dynamics. Trends Neurosci. 2001 Sep; 24(9):489-92.
Score: 0.013
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ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria. Brain. 2021 06 22; 144(5):1435-1450.
Score: 0.013
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Radiologic classification of malformations of cortical development. Curr Opin Neurol. 2001 Apr; 14(2):145-9.
Score: 0.013
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Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development. Neuron. 2020 05 06; 106(3):404-420.e8.
Score: 0.012
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Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly. Neuron. 2020 04 22; 106(2):237-245.e8.
Score: 0.012
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De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature. Eur J Hum Genet. 2020 06; 28(6):770-782.
Score: 0.012
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Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum. Science. 2019 10 25; 366(6464):454-460.
Score: 0.011
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Clinical nosologic and genetic aspects of Joubert and related syndromes. J Child Neurol. 1999 Oct; 14(10):660-6; discussion 669-72.
Score: 0.011
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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: 0.011
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SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Hum Mutat. 2019 07; 40(7):908-925.
Score: 0.011
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Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. Eur J Med Genet. 2020 Jan; 63(1):103624.
Score: 0.011
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Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome. Hum Mutat. 1999; 14(5):369-76.
Score: 0.011
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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: 0.011
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NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. Am J Hum Genet. 2018 11 01; 103(5):752-768.
Score: 0.011
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Biallelic loss of human CTNNA2, encoding aN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. Nat Genet. 2018 08; 50(8):1093-1101.
Score: 0.011
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Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription. Hum Mol Genet. 2018 06 15; 27(12):2171-2186.
Score: 0.010
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PARD3 dysfunction in conjunction with dynamic HIPPO signaling drives cortical enlargement with massive heterotopia. Genes Dev. 2018 06 01; 32(11-12):763-780.
Score: 0.010
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De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. Brain. 2018 03 01; 141(3):698-712.
Score: 0.010
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Congenital Zika virus infection as a silent pathology with loss of neurogenic output in the fetal brain. Nat Med. 2018 03; 24(3):368-374.
Score: 0.010
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Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. Am J Hum Genet. 2017 Jul 06; 101(1):23-36.
Score: 0.010
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Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms. Elife. 2017 01 16; 6.
Score: 0.009
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Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nat Genet. 2017 Mar; 49(3):457-464.
Score: 0.009
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Consensus Paper: Cerebellar Development. Cerebellum. 2016 12; 15(6):789-828.
Score: 0.009
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Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. Am J Hum Genet. 2016 Nov 03; 99(5):1117-1129.
Score: 0.009
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Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus Callosum. Cell Rep. 2016 10 11; 17(3):735-747.
Score: 0.009
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Fetal brain lesions after subcutaneous inoculation of Zika virus in a pregnant nonhuman primate. Nat Med. 2016 11; 22(11):1256-1259.
Score: 0.009
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Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy. Elife. 2015 Dec 03; 4.
Score: 0.009
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Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors. Neuron. 2014 Dec 17; 84(6):1226-39.
Score: 0.008
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A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell. 2014 Sep 25; 159(1):200-214.
Score: 0.008
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Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease. J Clin Invest. 2014 Nov; 124(11):4877-81.
Score: 0.008
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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: 0.008
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Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. Brain. 2013 Nov; 136(Pt 11):3378-94.
Score: 0.008
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Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of a-dystroglycan. Am J Hum Genet. 2013 Mar 07; 92(3):354-65.
Score: 0.007
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MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways. Neurogenetics. 2013 May; 14(2):99-111.
Score: 0.007
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CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. Nat Genet. 2012 Nov; 44(11):1260-4.
Score: 0.007
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Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene. Am J Med Genet A. 2011 Aug; 155A(8):1865-76.
Score: 0.006
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COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. PLoS Genet. 2011 May; 7(5):e1002062.
Score: 0.006
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WDR62 is associated with the spindle pole and is mutated in human microcephaly. Nat Genet. 2010 Nov; 42(11):1010-4.
Score: 0.006
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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: 0.006
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SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell. 2010 Jul 23; 142(2):203-17.
Score: 0.006
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Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females. Brain. 2009 Jun; 132(Pt 6):1563-76.
Score: 0.006
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Association and mutation analyses of 16p11.2 autism candidate genes. PLoS One. 2009; 4(2):e4582.
Score: 0.005
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Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet. 2008 Aug; 83(2):170-9.
Score: 0.005
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Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. Am J Hum Genet. 2007 Aug; 81(2):292-303.
Score: 0.005
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Truncation of NHEJ1 in a patient with polymicrogyria. Hum Mutat. 2007 Apr; 28(4):356-64.
Score: 0.005
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Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations. Genes Brain Behav. 2007 Aug; 6(6):503-16.
Score: 0.005
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AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol. 2006 Mar; 59(3):527-34.
Score: 0.004
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Genetic links between brain development and brain evolution. Nat Rev Genet. 2005 Jul; 6(7):581-90.
Score: 0.004
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Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation. Nat Genet. 2004 Oct; 36(10):1053-5.
Score: 0.004
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G protein-coupled receptor-dependent development of human frontal cortex. Science. 2004 Mar 26; 303(5666):2033-6.
Score: 0.004
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14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome. Nat Genet. 2003 Jul; 34(3):274-85.
Score: 0.004
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Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet. 2002 Nov; 32(3):359-69.
Score: 0.004
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Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1). Hum Mutat. 2002 Jan; 19(1):4-15.
Score: 0.003
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Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron. 1998 Dec; 21(6):1315-25.
Score: 0.003
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Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects. Hum Mol Genet. 1998 Aug; 7(8):1327-32.
Score: 0.003
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Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 1997 Jan; 15(1):62-9.
Score: 0.002
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Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat Genet. 1995 Apr; 9(4):358-64.
Score: 0.002
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Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature. 1993 Aug 19; 364(6439):717-21.
Score: 0.002
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Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome. Am J Hum Genet. 1988 Nov; 43(5):587-96.
Score: 0.001