Connection

Co-Authors

This is a "connection" page, showing publications co-authored by HUGO BELLEN and SHINYA YAMAMOTO.
Connection Strength

11.927
  1. Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans. Nat Rev Genet. 2024 Jan; 25(1):46-60.
    View in: PubMed
    Score: 0.907
  2. 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.
    View in: PubMed
    Score: 0.703
  3. Morgan's legacy: fruit flies and the functional annotation of conserved genes. Cell. 2015 Sep 24; 163(1):12-4.
    View in: PubMed
    Score: 0.527
  4. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell. 2014 Sep 25; 159(1):200-214.
    View in: PubMed
    Score: 0.492
  5. Introduction to Notch signaling. Methods Mol Biol. 2014; 1187:1-14.
    View in: PubMed
    Score: 0.467
  6. Preface. Notch signaling. Methods Mol Biol. 2014; 1187:v.
    View in: PubMed
    Score: 0.467
  7. A mutation in EGF repeat-8 of Notch discriminates between Serrate/Jagged and Delta family ligands. Science. 2012 Nov 30; 338(6111):1229-32.
    View in: PubMed
    Score: 0.433
  8. Endocytosis and intracellular trafficking of Notch and its ligands. Curr Top Dev Biol. 2010; 92:165-200.
    View in: PubMed
    Score: 0.354
  9. Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities. Genet Med. 2024 Sep; 26(9):101174.
    View in: PubMed
    Score: 0.241
  10. 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.
    View in: PubMed
    Score: 0.237
  11. 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.
    View in: PubMed
    Score: 0.236
  12. De novo variants in PLCG1 are associated with hearing impairment, ocular pathology, and cardiac defects. medRxiv. 2024 Jan 09.
    View in: PubMed
    Score: 0.234
  13. Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays. Elife. 2023 Dec 11; 12.
    View in: PubMed
    Score: 0.233
  14. 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.
    View in: PubMed
    Score: 0.230
  15. Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays. medRxiv. 2023 Oct 02.
    View in: PubMed
    Score: 0.230
  16. Bi-allelic variants in INTS11 are associated with a complex neurological disorder. Am J Hum Genet. 2023 05 04; 110(5):774-789.
    View in: PubMed
    Score: 0.222
  17. 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.
    View in: PubMed
    Score: 0.216
  18. The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder. Hum Mol Genet. 2022 08 25; 31(17):2934-2950.
    View in: PubMed
    Score: 0.213
  19. De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies. Brain. 2022 06 03; 145(5):1684-1697.
    View in: PubMed
    Score: 0.209
  20. 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.
    View in: PubMed
    Score: 0.207
  21. Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling. Sci Adv. 2022 01 21; 8(3):eabl5613.
    View in: PubMed
    Score: 0.204
  22. 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.
    View in: PubMed
    Score: 0.182
  23. Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms. Neuron. 2020 05 20; 106(4):589-606.e6.
    View in: PubMed
    Score: 0.179
  24. An efficient CRISPR-based strategy to insert small and large fragments of DNA using short homology arms. Elife. 2019 11 01; 8.
    View in: PubMed
    Score: 0.175
  25. Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information. J Vis Exp. 2019 08 15; (150).
    View in: PubMed
    Score: 0.172
  26. A gene-specific T2A-GAL4 library for Drosophila. Elife. 2018 03 22; 7.
    View in: PubMed
    Score: 0.157
  27. Correction: Impaired Mitochondrial Energy Production Causes Light-Induced Photoreceptor Degeneration Independent of Oxidative Stress. PLoS Biol. 2018 03; 16(3):e1002622.
    View in: PubMed
    Score: 0.156
  28. Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research. Genetics. 2017 09; 207(1):9-27.
    View in: PubMed
    Score: 0.151
  29. 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.
    View in: PubMed
    Score: 0.147
  30. Loss of Nardilysin, a Mitochondrial Co-chaperone for a-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration. Neuron. 2017 Jan 04; 93(1):115-131.
    View in: PubMed
    Score: 0.144
  31. Loss of Frataxin induces iron toxicity, sphingolipid synthesis, and Pdk1/Mef2 activation, leading to neurodegeneration. Elife. 2016 06 25; 5.
    View in: PubMed
    Score: 0.139
  32. 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.
    View in: PubMed
    Score: 0.135
  33. Impaired Mitochondrial Energy Production Causes Light-Induced Photoreceptor Degeneration Independent of Oxidative Stress. PLoS Biol. 2015 Jul; 13(7):e1002197.
    View in: PubMed
    Score: 0.130
  34. Correction: the retromer complex is required for rhodopsin recycling and its loss leads to photoreceptor degeneration. PLoS Biol. 2015 May; 13(5):e1002170.
    View in: PubMed
    Score: 0.129
  35. Fruit flies in biomedical research. Genetics. 2015 Mar; 199(3):639-53.
    View in: PubMed
    Score: 0.126
  36. Glial lipid droplets and ROS induced by mitochondrial defects promote neurodegeneration. Cell. 2015 Jan 15; 160(1-2):177-90.
    View in: PubMed
    Score: 0.126
  37. Mitochondrial fusion but not fission regulates larval growth and synaptic development through steroid hormone production. Elife. 2014 Oct 14; 3.
    View in: PubMed
    Score: 0.123
  38. Large-scale identification of chemically induced mutations in Drosophila melanogaster. Genome Res. 2014 Oct; 24(10):1707-18.
    View in: PubMed
    Score: 0.123
  39. The retromer complex is required for rhodopsin recycling and its loss leads to photoreceptor degeneration. PLoS Biol. 2014 Apr; 12(4):e1001847.
    View in: PubMed
    Score: 0.119
  40. Shared mechanisms between Drosophila peripheral nervous system development and human neurodegenerative diseases. Curr Opin Neurobiol. 2014 Aug; 27:158-64.
    View in: PubMed
    Score: 0.119
  41. Drosophila Tempura, a novel protein prenyltransferase a subunit, regulates notch signaling via Rab1 and Rab11. PLoS Biol. 2014 Jan; 12(1):e1001777.
    View in: PubMed
    Score: 0.117
  42. Protein phosphatase 1? limits ring canal constriction during Drosophila germline cyst formation. PLoS One. 2013; 8(7):e70502.
    View in: PubMed
    Score: 0.113
  43. Drosophila EHBP1 regulates Scabrous secretion during Notch-mediated lateral inhibition. J Cell Sci. 2013 Aug 15; 126(Pt 16):3686-96.
    View in: PubMed
    Score: 0.113
  44. The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit. J Cell Biol. 2013 Mar 18; 200(6):807-20.
    View in: PubMed
    Score: 0.111
  45. Crag is a GEF for Rab11 required for rhodopsin trafficking and maintenance of adult photoreceptor cells. PLoS Biol. 2012; 10(12):e1001438.
    View in: PubMed
    Score: 0.108
  46. dEHBP1 controls exocytosis and recycling of Delta during asymmetric divisions. J Cell Biol. 2012 Jan 09; 196(1):65-83.
    View in: PubMed
    Score: 0.102
  47. Sequoia regulates cell fate decisions in the external sensory organs of adult Drosophila. EMBO Rep. 2009 Jun; 10(6):636-41.
    View in: PubMed
    Score: 0.085
  48. Resolution of SLC6A1 variable expressivity in a multi-generational family using deep clinical phenotyping and Drosophila models. medRxiv. 2024 Sep 28.
    View in: PubMed
    Score: 0.061
  49. Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genet Med. 2024 Nov; 26(11):101218.
    View in: PubMed
    Score: 0.061
  50. AI-MARRVEL - A Knowledge-Driven AI System for Diagnosing Mendelian Disorders. NEJM AI. 2024 May; 1(5).
    View in: PubMed
    Score: 0.060
  51. Whole organism snRNA-seq reveals systemic peripheral changes in Alzheimer's Disease fly models. bioRxiv. 2024 Mar 13.
    View in: PubMed
    Score: 0.059
  52. 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.
    View in: PubMed
    Score: 0.057
  53. 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.
    View in: PubMed
    Score: 0.055
  54. 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.
    View in: PubMed
    Score: 0.049
  55. 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.
    View in: PubMed
    Score: 0.049
  56. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. Genet Med. 2021 10; 23(10):1889-1900.
    View in: PubMed
    Score: 0.049
  57. 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.
    View in: PubMed
    Score: 0.049
  58. 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.
    View in: PubMed
    Score: 0.047
  59. 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.
    View in: PubMed
    Score: 0.045
  60. Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nat Commun. 2019 10 15; 10(1):4679.
    View in: PubMed
    Score: 0.044
  61. Using MARRVEL v1.2 for Bioinformatics Analysis of Human Genes and Variant Pathogenicity. Curr Protoc Bioinformatics. 2019 09; 67(1):e85.
    View in: PubMed
    Score: 0.043
  62. 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.
    View in: PubMed
    Score: 0.043
  63. Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. N Engl J Med. 2018 11 29; 379(22):2131-2139.
    View in: PubMed
    Score: 0.041
  64. IRF2BPL Is Associated with Neurological Phenotypes. Am J Hum Genet. 2018 09 06; 103(3):456.
    View in: PubMed
    Score: 0.040
  65. IRF2BPL Is Associated with Neurological Phenotypes. Am J Hum Genet. 2018 08 02; 103(2):245-260.
    View in: PubMed
    Score: 0.040
  66. Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. Hum Mol Genet. 2018 07 15; 27(14):2454-2465.
    View in: PubMed
    Score: 0.040
  67. 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.
    View in: PubMed
    Score: 0.039
  68. Pleiotropic neuropathological and biochemical alterations associated with Myo5a mutation in a rat Model. Brain Res. 2018 01 15; 1679:155-170.
    View in: PubMed
    Score: 0.038
  69. Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet. 2017 Jul; 13(7):e1006905.
    View in: PubMed
    Score: 0.037
  70. A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. Am J Hum Genet. 2017 Jan 05; 100(1):128-137.
    View in: PubMed
    Score: 0.036
  71. Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease. PLoS Genet. 2016 Oct; 12(10):e1006327.
    View in: PubMed
    Score: 0.035
  72. 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.
    View in: PubMed
    Score: 0.034
  73. 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.
    View in: PubMed
    Score: 0.032
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.