SHINYA YAMAMOTO to Phenotype
This is a "connection" page, showing publications SHINYA YAMAMOTO has written about Phenotype.
Connection Strength
1.297
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila. J Vis Exp. 2019 08 20; (150).
Score: 0.300
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Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases. Genome Res. 2025 07 01; 35(7):1473-1484.
Score: 0.113
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Functional analysis of pathogenic variants in LAMB1-related leukoencephalopathy reveals genotype-phenotype correlations and suggests its role in glial cells. Hum Mol Genet. 2025 05 17; 34(11):990-999.
Score: 0.112
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Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes. J Med Genet. 2024 10 23; 61(11):1062-1067.
Score: 0.107
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Functional Studies of Genetic Variants Associated with Human Diseases in Notch Signaling-Related Genes Using Drosophila. Methods Mol Biol. 2022; 2472:235-276.
Score: 0.088
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BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. Am J Hum Genet. 2020 12 03; 107(6):1096-1112.
Score: 0.082
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The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases. Hum Mol Genet. 2019 11 21; 28(R2):R207-R214.
Score: 0.076
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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information. J Vis Exp. 2019 08 15; (150).
Score: 0.075
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Uncovering phenotypic expansion in AXIN2-related disorders through precision animal modeling. Genet Med. 2026 Sep; 28(9):102648.
Score: 0.030
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Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder. Genet Med. 2026 04; 28(4):101685.
Score: 0.029
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Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models. HGG Adv. 2026 Jan 15; 7(1):100541.
Score: 0.029
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C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder. Genet Med. 2025 07; 27(7):101429.
Score: 0.028
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De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms. Am J Hum Genet. 2025 04 03; 112(4):846-862.
Score: 0.028
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Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genet Med. 2024 11; 26(11):101218.
Score: 0.026
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Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities. Genet Med. 2024 09; 26(9):101174.
Score: 0.026
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De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features. Genet Med. 2023 06; 25(6):100833.
Score: 0.024
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De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies. Brain. 2022 06 03; 145(5):1684-1697.
Score: 0.023
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Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. Genet Med. 2021 10; 23(10):1889-1900.
Score: 0.021
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Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision. Orphanet J Rare Dis. 2021 05 07; 16(1):206.
Score: 0.021
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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: 0.019
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Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet. 2017 Jul; 13(7):e1006905.
Score: 0.016
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Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease. PLoS Genet. 2016 Oct; 12(10):e1006327.
Score: 0.015
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Sequoia regulates cell fate decisions in the external sensory organs of adult Drosophila. EMBO Rep. 2009 Jun; 10(6):636-41.
Score: 0.009