Co-Authors
This is a "connection" page, showing publications co-authored by HUGO BELLEN and MICHAEL WANGLER.
Connection Strength
7.437
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The expanding neurological phenotype of DNM1L-related disorders. Brain. 2018 04 01; 141(4):e28.
Score: 0.657
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Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research. Genetics. 2017 09; 207(1):9-27.
Score: 0.632
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Peroxisomal biogenesis is genetically and biochemically linked to carbohydrate metabolism in Drosophila and mouse. PLoS Genet. 2017 Jun; 13(6):e1006825.
Score: 0.623
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Fruit flies in biomedical research. Genetics. 2015 Mar; 199(3):639-53.
Score: 0.527
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Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma. Genet Med. 2024 Mar 21; 101125.
Score: 0.249
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De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features. Am J Hum Genet. 2024 Apr 04; 111(4):742-760.
Score: 0.248
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Improving access to exome sequencing in a medically underserved population through the Texome Project. Genet Med. 2024 Feb 28; 101102.
Score: 0.248
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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: 0.247
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De novo variants in PLCG1 are associated with hearing impairment, ocular pathology, and cardiac defects. medRxiv. 2024 Jan 09.
Score: 0.245
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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: 0.241
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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: 0.238
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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: 0.233
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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: 0.232
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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: 0.226
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De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement. Am J Hum Genet. 2022 10 06; 109(10):1932-1943.
Score: 0.225
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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: 0.223
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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: 0.191
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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: 0.188
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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: 0.184
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Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms. Dev Cell. 2018 04 23; 45(2):226-244.e8.
Score: 0.165
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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: 0.155
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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: 0.150
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Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila. Hum Mol Genet. 2016 05 01; 25(9):1846-56.
Score: 0.142
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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: 0.129
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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: 0.059
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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: 0.054
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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: 0.052
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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: 0.051
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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: 0.051
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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: 0.051
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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: 0.049
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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: 0.047
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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: 0.046
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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: 0.045
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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: 0.045
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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: 0.043
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IRF2BPL Is Associated with Neurological Phenotypes. Am J Hum Genet. 2018 09 06; 103(3):456.
Score: 0.042
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IRF2BPL Is Associated with Neurological Phenotypes. Am J Hum Genet. 2018 08 02; 103(2):245-260.
Score: 0.042
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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: 0.042
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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: 0.041
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Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet. 2017 Jul; 13(7):e1006905.
Score: 0.039
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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: 0.038