William Dobyns to Intellectual Disability
This is a "connection" page, showing publications William Dobyns has written about Intellectual Disability.
Connection Strength
4.807
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Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. Neurology. 2007 Jul 31; 69(5):427-33.
Score: 0.278
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Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability. J Neurophysiol. 2022 07 01; 128(1):40-61.
Score: 0.194
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De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability. J Med Genet. 2022 Oct; 59(10):965-975.
Score: 0.188
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Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genet Med. 2021 06; 23(6):1028-1040.
Score: 0.178
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DLG4-related synaptopathy: a new rare brain disorder. Genet Med. 2021 05; 23(5):888-899.
Score: 0.178
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Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia. Genet Med. 2021 05; 23(5):881-887.
Score: 0.177
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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: 0.172
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Genotype-phenotype correlation at codon 1740 of SETD2. Am J Med Genet A. 2020 09; 182(9):2037-2048.
Score: 0.171
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Diffuse polymicrogyria associated with congenital hydrocephalus, craniosynostosis, severe mental retardation, and minor facial and genital anomalies. J Child Neurol. 2000 Jul; 15(7):493-5.
Score: 0.170
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Defining the phenotypical spectrum associated with variants in TUBB2A. J Med Genet. 2021 01; 58(1):33-40.
Score: 0.170
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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: 0.166
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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain. 2020 01 01; 143(1):55-68.
Score: 0.165
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Duplication 2p16 is associated with perisylvian polymicrogyria. Am J Med Genet A. 2019 12; 179(12):2343-2356.
Score: 0.163
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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: 0.159
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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: 0.152
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Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation. Neurology. 1998 Aug; 51(2):499-503.
Score: 0.149
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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: 0.148
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Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome. Neurology. 1997 Oct; 49(4):1042-7.
Score: 0.141
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Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. Genet Med. 2017 06; 19(6):691-700.
Score: 0.132
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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: 0.131
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Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. J Med Genet. 2016 06; 53(6):419-25.
Score: 0.126
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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. Hum Mutat. 2016 Feb; 37(2):148-54.
Score: 0.124
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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: 0.123
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Phenotypic spectrum associated with CASK loss-of-function mutations. J Med Genet. 2011 Nov; 48(11):741-51.
Score: 0.093
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Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX. Am J Med Genet A. 2011 Apr; 155A(4):892-7.
Score: 0.089
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Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy. Neurology. 1991 Feb; 41(2 ( Pt 1)):266-71.
Score: 0.089
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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: 0.085
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Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). J Med Genet. 2010 Jan; 47(1):8-21.
Score: 0.079
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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: 0.066
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Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations. Ann Neurol. 2003 Jul; 54(1):30-7.
Score: 0.052
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Expanding the KIF4A-associated phenotype. Am J Med Genet A. 2021 12; 185(12):3728-3739.
Score: 0.046
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Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities. Am J Hum Genet. 2021 05 06; 108(5):951-961.
Score: 0.045
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Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14. J Med Genet. 2001 Jan; 38(1):26-34.
Score: 0.044
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Microcephaly with simplified gyral pattern in six related children. Am J Med Genet. 1999 May 21; 84(2):137-44.
Score: 0.039
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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: 0.037
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Lissencephaly and other malformations of cortical development: 1995 update. Neuropediatrics. 1995 Jun; 26(3):132-47.
Score: 0.030
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Clinical manifestations and evaluation of isolated lissencephaly. Childs Nerv Syst. 1993 Nov; 9(7):387-90.
Score: 0.027
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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: 0.024
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Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet. 1991 Dec; 49(6):1207-18.
Score: 0.023
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Loss-of-function mutations in RAB18 cause Warburg micro syndrome. Am J Hum Genet. 2011 Apr 08; 88(4):499-507.
Score: 0.022
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The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet. 2011 Jun; 48(6):396-406.
Score: 0.022
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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: 0.020
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Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation. Am J Med Genet A. 2007 May 01; 143A(9):939-44.
Score: 0.017
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Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome. Am J Med Genet. 1986 Jul; 24(3):421-32.
Score: 0.016
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Genotypically defined lissencephalies show distinct pathologies. J Neuropathol Exp Neurol. 2005 Oct; 64(10):847-57.
Score: 0.015
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Syndromes with lissencephaly. II: Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with type II lissencephaly. Am J Med Genet. 1985 Sep; 22(1):157-95.
Score: 0.015
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Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. Neurology. 2003 Oct 28; 61(8):1042-6.
Score: 0.013
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Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia. J Med Genet. 2003 Jun; 40(6):441-6.
Score: 0.013
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LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Hum Mol Genet. 1998 Dec; 7(13):2029-37.
Score: 0.010
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Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia. Am J Hum Genet. 1997 Aug; 61(2):379-87.
Score: 0.009
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Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation. Am J Med Genet. 1995 Jul 03; 57(3):403-9.
Score: 0.008