HSIAO-TUAN CHAO to Humans
This is a "connection" page, showing publications HSIAO-TUAN CHAO has written about Humans.
Connection Strength
0.185
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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 01 04; 111(1):96-118.
Score: 0.018
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PAK1 c.1409?T?>?a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature. Am J Med Genet A. 2023 06; 191(6):1619-1625.
Score: 0.017
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An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain. Ann Neurol. 2022 07; 92(1):138-153.
Score: 0.016
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PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature. Am J Med Genet A. 2022 06; 188(6):1868-1874.
Score: 0.016
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Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature. Am J Med Genet A. 2019 03; 179(3):475-479.
Score: 0.013
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Building dialogues between clinical and biomedical research through cross-species collaborations. Semin Cell Dev Biol. 2017 10; 70:49-57.
Score: 0.011
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A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. Am J Hum Genet. 2017 Jan 05; 100(1):128-137.
Score: 0.011
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MeCP2: only 100% will do. Nat Neurosci. 2012 Jan 26; 15(2):176-7.
Score: 0.008
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Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps. Genome Res. 2024 Nov 20; 34(11):1785-1797.
Score: 0.005
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Behavioral screening reveals a conserved residue in Y-Box RNA-binding protein required for associative learning and memory in C. elegans. PLoS Genet. 2024 Oct; 20(10):e1011443.
Score: 0.005
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Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement. Nat Commun. 2024 Aug 06; 15(1):6524.
Score: 0.005
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Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension. JCI Insight. 2024 May 08; 9(9).
Score: 0.005
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The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing. Am J Hum Genet. 2024 05 02; 111(5):841-862.
Score: 0.005
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Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy. Am J Hum Genet. 2023 01 05; 110(1):120-145.
Score: 0.004
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Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain. Am J Med Genet A. 2022 12; 188(12):3516-3524.
Score: 0.004
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ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection. Ann Clin Transl Neurol. 2022 08; 9(8):1276-1288.
Score: 0.004
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Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. Cell Rep. 2022 03 15; 38(11):110517.
Score: 0.004
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Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing. J Clin Invest. 2021 01 04; 131(1).
Score: 0.004
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De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. Am J Hum Genet. 2020 05 07; 106(5):717-725.
Score: 0.003
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De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. Am J Hum Genet. 2020 04 02; 106(4):570-583.
Score: 0.003
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Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy. Elife. 2020 02 19; 9.
Score: 0.003
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila. J Vis Exp. 2019 08 20; (150).
Score: 0.003
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DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract. Genet Med. 2019 12; 21(12):2755-2764.
Score: 0.003
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Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med. 2017 09 21; 9(1):83.
Score: 0.003
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Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research. Genetics. 2017 09; 207(1):9-27.
Score: 0.003
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Clinical and molecular characterization of de novo loss of function variants in HNRNPU. Am J Med Genet A. 2017 Oct; 173(10):2680-2689.
Score: 0.003
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MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome. Am J Hum Genet. 2017 Jun 01; 100(6):843-853.
Score: 0.003
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Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy. Hum Mol Genet. 2016 Apr 15; 25(8):1637-47.
Score: 0.003
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A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome. Hum Mol Genet. 2008 Jun 15; 17(12):1718-27.
Score: 0.001