Co-Authors
This is a "connection" page, showing publications co-authored by HUGO BELLEN and SHINYA YAMAMOTO.
Connection Strength
11.450
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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: 0.802
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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: 0.622
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Morgan's legacy: fruit flies and the functional annotation of conserved genes. Cell. 2015 Sep 24; 163(1):12-4.
Score: 0.466
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A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell. 2014 Sep 25; 159(1):200-214.
Score: 0.435
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Introduction to Notch signaling. Methods Mol Biol. 2014; 1187:1-14.
Score: 0.413
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Preface. Notch signaling. Methods Mol Biol. 2014; 1187:v.
Score: 0.413
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A mutation in EGF repeat-8 of Notch discriminates between Serrate/Jagged and Delta family ligands. Science. 2012 Nov 30; 338(6111):1229-32.
Score: 0.383
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Endocytosis and intracellular trafficking of Notch and its ligands. Curr Top Dev Biol. 2010; 92:165-200.
Score: 0.313
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A rare recurring gain-of-function variant in BMPR2 causes neurodevelopmental phenotypes in humans and flies. Am J Hum Genet. 2026 Sep 21.
Score: 0.250
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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: 0.238
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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: 0.213
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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: 0.210
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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: 0.209
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Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays. Elife. 2023 12 11; 12.
Score: 0.206
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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: 0.204
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Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays. medRxiv. 2023 Oct 02.
Score: 0.203
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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: 0.197
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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: 0.191
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The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder. Hum Mol Genet. 2022 08 25; 31(17):2934-2950.
Score: 0.188
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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: 0.185
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ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research. Hum Mutat. 2022 06; 43(6):743-759.
Score: 0.183
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Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling. Sci Adv. 2022 01 21; 8(3):eabl5613.
Score: 0.181
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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: 0.161
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Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms. Neuron. 2020 05 20; 106(4):589-606.e6.
Score: 0.159
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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: 0.155
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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: 0.153
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A gene-specific T2A-GAL4 library for Drosophila. Elife. 2018 03 22; 7.
Score: 0.138
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Correction: Impaired Mitochondrial Energy Production Causes Light-Induced Photoreceptor Degeneration Independent of Oxidative Stress. PLoS Biol. 2018 03; 16(3):e1002622.
Score: 0.138
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Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research. Genetics. 2017 09; 207(1):9-27.
Score: 0.133
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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: 0.130
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Loss of Nardilysin, a Mitochondrial Co-chaperone for a-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration. Neuron. 2017 Jan 04; 93(1):115-131.
Score: 0.127
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Loss of Frataxin induces iron toxicity, sphingolipid synthesis, and Pdk1/Mef2 activation, leading to neurodegeneration. Elife. 2016 06 25; 5.
Score: 0.123
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WAC Regulates mTOR Activity by Acting as an Adaptor for the TTT and Pontin/Reptin Complexes. Dev Cell. 2016 Jan 25; 36(2):139-51.
Score: 0.119
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Impaired Mitochondrial Energy Production Causes Light-Induced Photoreceptor Degeneration Independent of Oxidative Stress. PLoS Biol. 2015 Jul; 13(7):e1002197.
Score: 0.115
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Correction: the retromer complex is required for rhodopsin recycling and its loss leads to photoreceptor degeneration. PLoS Biol. 2015 May; 13(5):e1002170.
Score: 0.114
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Fruit flies in biomedical research. Genetics. 2015 Mar; 199(3):639-53.
Score: 0.111
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Glial lipid droplets and ROS induced by mitochondrial defects promote neurodegeneration. Cell. 2015 Jan 15; 160(1-2):177-90.
Score: 0.111
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Mitochondrial fusion but not fission regulates larval growth and synaptic development through steroid hormone production. Elife. 2014 Oct 14; 3.
Score: 0.109
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Large-scale identification of chemically induced mutations in Drosophila melanogaster. Genome Res. 2014 Oct; 24(10):1707-18.
Score: 0.109
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The retromer complex is required for rhodopsin recycling and its loss leads to photoreceptor degeneration. PLoS Biol. 2014 Apr; 12(4):e1001847.
Score: 0.106
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Shared mechanisms between Drosophila peripheral nervous system development and human neurodegenerative diseases. Curr Opin Neurobiol. 2014 Aug; 27:158-64.
Score: 0.106
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Drosophila Tempura, a novel protein prenyltransferase a subunit, regulates notch signaling via Rab1 and Rab11. PLoS Biol. 2014 Jan; 12(1):e1001777.
Score: 0.104
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Protein phosphatase 1? limits ring canal constriction during Drosophila germline cyst formation. PLoS One. 2013; 8(7):e70502.
Score: 0.100
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Drosophila EHBP1 regulates Scabrous secretion during Notch-mediated lateral inhibition. J Cell Sci. 2013 Aug 15; 126(Pt 16):3686-96.
Score: 0.100
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The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit. J Cell Biol. 2013 Mar 18; 200(6):807-20.
Score: 0.098
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Crag is a GEF for Rab11 required for rhodopsin trafficking and maintenance of adult photoreceptor cells. PLoS Biol. 2012; 10(12):e1001438.
Score: 0.096
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dEHBP1 controls exocytosis and recycling of Delta during asymmetric divisions. J Cell Biol. 2012 Jan 09; 196(1):65-83.
Score: 0.090
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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: 0.075
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Cross-species functional analysis of a de novo DCLK1 variant associated with a neurodevelopmental disorder. Res Sq. 2026 Jul 23.
Score: 0.062
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Uncovering phenotypic expansion in AXIN2-related disorders through precision animal modeling. Genet Med. 2026 Sep; 28(9):102648.
Score: 0.062
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Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models. HGG Adv. 2026 Jan 15; 7(1):100541.
Score: 0.059
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Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function. Elife. 2025 Aug 27; 13.
Score: 0.058
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De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome. Brain. 2025 Aug 01; 148(8):2658-2670.
Score: 0.058
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Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function. medRxiv. 2025 May 29.
Score: 0.057
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Distinct systemic impacts of A?42 and Tau revealed by whole-organism snRNA-seq. Neuron. 2025 Jul 09; 113(13):2065-2082.e8.
Score: 0.057
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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: 0.056
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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: 0.056
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Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling. medRxiv. 2025 Mar 01.
Score: 0.056
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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: 0.054
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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: 0.054
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AI-MARRVEL - A Knowledge-Driven AI System for Diagnosing Mendelian Disorders. NEJM AI. 2024 May; 1(5).
Score: 0.053
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Whole organism snRNA-seq reveals systemic peripheral changes in Alzheimer's Disease fly models. bioRxiv. 2024 Mar 13.
Score: 0.052
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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: 0.050
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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: 0.049
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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: 0.044
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Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features. Hum Mol Genet. 2021 06 26; 30(14):1283-1292.
Score: 0.043
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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: 0.043
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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: 0.043
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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: 0.042
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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: 0.040
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Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nat Commun. 2019 10 15; 10(1):4679.
Score: 0.039
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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 Sep 05; 105(3):672-674.
Score: 0.038
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Using MARRVEL v1.2 for Bioinformatics Analysis of Human Genes and Variant Pathogenicity. Curr Protoc Bioinformatics. 2019 09; 67(1):e85.
Score: 0.038
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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: 0.038
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Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. N Engl J Med. 2018 11 29; 379(22):2131-2139.
Score: 0.036
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IRF2BPL Is Associated with Neurological Phenotypes. Am J Hum Genet. 2018 09 06; 103(3):456.
Score: 0.036
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IRF2BPL Is Associated with Neurological Phenotypes. Am J Hum Genet. 2018 08 02; 103(2):245-260.
Score: 0.035
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Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. Hum Mol Genet. 2018 07 15; 27(14):2454-2465.
Score: 0.035
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Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. Am J Hum Genet. 2018 03 01; 102(3):494-504.
Score: 0.034
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Pleiotropic neuropathological and biochemical alterations associated with Myo5a mutation in a rat Model. Brain Res. 2018 01 15; 1679:155-170.
Score: 0.034
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Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet. 2017 Jul; 13(7):e1006905.
Score: 0.033
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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: 0.032
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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: 0.031
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Ubr3, a Novel Modulator of Hh Signaling Affects the Degradation of Costal-2 and Kif7 through Poly-ubiquitination. PLoS Genet. 2016 05; 12(5):e1006054.
Score: 0.030
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A voltage-gated calcium channel regulates lysosomal fusion with endosomes and autophagosomes and is required for neuronal homeostasis. PLoS Biol. 2015 Mar; 13(3):e1002103.
Score: 0.028