HUDA ZOGHBI to Genetic Predisposition to Disease
This is a "connection" page, showing publications HUDA ZOGHBI has written about Genetic Predisposition to Disease.
Connection Strength
1.515
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A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. Cell. 2018 02 22; 172(5):924-936.e11.
Score: 0.250
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An Atoh1-S193A Phospho-Mutant Allele Causes Hearing Deficits and Motor Impairment. J Neurosci. 2017 09 06; 37(36):8583-8594.
Score: 0.240
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Lessons learned from studying syndromic autism spectrum disorders. Nat Neurosci. 2016 10 26; 19(11):1408-1417.
Score: 0.228
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Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development. J Child Neurol. 2011 Mar; 26(3):288-94.
Score: 0.154
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Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Ann Neurol. 2009 Dec; 66(6):771-82.
Score: 0.141
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The story of Rett syndrome: from clinic to neurobiology. Neuron. 2007 Nov 08; 56(3):422-37.
Score: 0.122
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Trinucleotide repeat disorders. Annu Rev Neurosci. 2007; 30:575-621.
Score: 0.115
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Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease. Cell Rep. 2025 Mar 25; 44(3):115355.
Score: 0.102
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Losing Dnmt3a dependent methylation in inhibitory neurons impairs neural function by a mechanism impacting Rett syndrome. Elife. 2020 03 11; 9.
Score: 0.072
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Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. Hum Mol Genet. 2011 Sep 01; 20(17):3366-75.
Score: 0.039
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Using the linear references from the pangenome to discover missing autism variants. Nat Commun. 2026 Jan 23; 17(1):1681.
Score: 0.027
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The clinical and genetic spectrum of spinocerebellar ataxia 14. Neurology. 2005 Apr 12; 64(7):1258-60.
Score: 0.026