Co-Authors
This is a "connection" page, showing publications co-authored by SHINYA YAMAMOTO and OGUZ KANCA.
Connection Strength
2.261
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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 May 17; 34(11):990-999.
Score: 0.250
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De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms. Am J Hum Genet. 2025 Apr 03; 112(4):846-862.
Score: 0.247
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Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans. Nat Rev Genet. 2024 Jan; 25(1):46-60.
Score: 0.220
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An efficient CRISPR-based strategy to insert small and large fragments of DNA using short homology arms. Elife. 2019 11 01; 8.
Score: 0.170
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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: 0.167
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C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder. Genet Med. 2025 Apr 09; 101429.
Score: 0.062
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Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling. medRxiv. 2025 Mar 01.
Score: 0.061
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De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome. Brain. 2025 Feb 07.
Score: 0.061
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Resolution of SLC6A1 variable expressivity in a multi-generational family using deep clinical phenotyping and Drosophila models. medRxiv. 2024 Sep 28.
Score: 0.060
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Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genet Med. 2024 Nov; 26(11):101218.
Score: 0.059
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De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features. Am J Hum Genet. 2024 04 04; 111(4):742-760.
Score: 0.058
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Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability. Proc Natl Acad Sci U S A. 2024 Feb 27; 121(9):e2322582121.
Score: 0.057
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Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays. Elife. 2023 Dec 11; 12.
Score: 0.057
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Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies. Am J Hum Genet. 2023 11 02; 110(11):1919-1937.
Score: 0.056
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Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays. medRxiv. 2023 Oct 02.
Score: 0.056
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A comprehensive Drosophila resource to identify key functional interactions between SARS-CoV-2 factors and host proteins. Cell Rep. 2023 08 29; 42(8):112842.
Score: 0.055
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Bi-allelic variants in INTS11 are associated with a complex neurological disorder. Am J Hum Genet. 2023 05 04; 110(5):774-789.
Score: 0.054
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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: 0.054
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The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. Am J Hum Genet. 2022 Nov 03; 109(11):2092.
Score: 0.052
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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: 0.051
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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: 0.050
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Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling. Sci Adv. 2022 01 21; 8(3):eabl5613.
Score: 0.050
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TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. Am J Hum Genet. 2021 09 02; 108(9):1669-1691.
Score: 0.048
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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: 0.048
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De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. Hum Mol Genet. 2020 06 03; 29(9):1568-1579.
Score: 0.044
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IRF2BPL Is Associated with Neurological Phenotypes. Am J Hum Genet. 2018 09 06; 103(3):456.
Score: 0.039
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IRF2BPL Is Associated with Neurological Phenotypes. Am J Hum Genet. 2018 08 02; 103(2):245-260.
Score: 0.039
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A gene-specific T2A-GAL4 library for Drosophila. Elife. 2018 03 22; 7.
Score: 0.038