Robert Hufnagel to Mice
This is a "connection" page, showing publications Robert Hufnagel has written about Mice.
Connection Strength
1.319
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Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders. Brain. 2024 Jun 03; 147(6):2085-2097.
Score: 0.210
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A new frontonasal dysplasia syndrome associated with deletion of the SIX2 gene. Am J Med Genet A. 2016 Feb; 170A(2):487-491.
Score: 0.116
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Heterochronic misexpression of Ascl1 in the Atoh7 retinal cell lineage blocks cell cycle exit. Mol Cell Neurosci. 2013 May; 54:108-20.
Score: 0.096
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Neurog2 controls the leading edge of neurogenesis in the mammalian retina. Dev Biol. 2010 Apr 15; 340(2):490-503.
Score: 0.078
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Conserved regulation of Math5 and Math1 revealed by Math5-GFP transgenes. Mol Cell Neurosci. 2007 Dec; 36(4):435-48.
Score: 0.065
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Compound Heterozygous Variants in the Phospholipase Gene PNPLA6 Cause Hypopituitarism and Vision Loss. Hum Mutat. 2026; 2026:4515038.
Score: 0.060
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Splicing variants in MYRF cause partial loss of function in the retinal pigment epithelium leading to nanophthalmos. JCI Insight. 2026 Mar 23; 11(6).
Score: 0.059
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FOXP4 Variants Are Associated With Plateau Iris and Angle Closure Glaucoma. Invest Ophthalmol Vis Sci. 2025 Jul 01; 66(9):23.
Score: 0.056
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Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal Dystrophies. JAMA Ophthalmol. 2024 Nov 01; 142(11):1081-1086.
Score: 0.054
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Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy. Clin Genet. 2023 06; 103(6):699-703.
Score: 0.048
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Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia. PLoS One. 2022; 17(11):e0268149.
Score: 0.047
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Zfp503/Nlz2 Is Required for RPE Differentiation and Optic Fissure Closure. Invest Ophthalmol Vis Sci. 2022 Nov 01; 63(12):5.
Score: 0.047
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Gain-of-function mutations in ALPK1 cause an NF-?B-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome. Ann Rheum Dis. 2022 10; 81(10):1453-1464.
Score: 0.046
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Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome. Elife. 2021 11 09; 10.
Score: 0.044
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Conserved Gsx2/Ind homeodomain monomer versus homodimer DNA binding defines regulatory outcomes in flies and mice. Genes Dev. 2021 01 01; 35(1-2):157-174.
Score: 0.041
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Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission. Sci Adv. 2019 09; 5(9):eaax2166.
Score: 0.038
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Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice. PLoS Genet. 2019 05; 15(5):e1008130.
Score: 0.037
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Using human sequencing to guide craniofacial research. Genesis. 2019 01; 57(1):e23259.
Score: 0.036
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Identifying core biological processes distinguishing human eye tissues with precise systems-level gene expression analyses and weighted correlation networks. Hum Mol Genet. 2018 10 01; 27(19):3325-3339.
Score: 0.035
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Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice. Hum Mol Genet. 2017 10 01; 26(19):3776-3791.
Score: 0.033
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A mutation in the tuft mouse disrupts TET1 activity and alters the expression of genes that are crucial for neural tube closure. Dis Model Mech. 2016 05 01; 9(5):585-96.
Score: 0.030
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Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy. Hum Gene Ther. 2013 Dec; 24(12):993-1006.
Score: 0.025
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Math5 expression and function in the central auditory system. Mol Cell Neurosci. 2008 Jan; 37(1):153-69.
Score: 0.016