Robert Hufnagel to Animals
This is a "connection" page, showing publications Robert Hufnagel has written about Animals.
Connection Strength
2.206
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Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders. Brain. 2024 Jun 03; 147(6):2085-2097.
Score: 0.226
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UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly. Genet Med. 2021 09; 23(9):1624-1635.
Score: 0.184
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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: 0.125
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Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. J Med Genet. 2015 Feb; 52(2):85-94.
Score: 0.117
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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: 0.104
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Gene therapy for Leber congenital amaurosis: advances and future directions. Graefes Arch Clin Exp Ophthalmol. 2012 Aug; 250(8):1117-28.
Score: 0.098
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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: 0.084
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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: 0.071
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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: 0.058
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Antisense Oligonucleotide STK-002 Increases OPA1 in Retina and Improves Mitochondrial Function in Autosomal Dominant Optic Atrophy Cells. Nucleic Acid Ther. 2024 10; 34(5):221-233.
Score: 0.058
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High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma. Invest Ophthalmol Vis Sci. 2024 Mar 05; 65(3):25.
Score: 0.056
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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: 0.052
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A Spontaneous Nonhuman Primate Model of Myopic Foveoschisis. Invest Ophthalmol Vis Sci. 2023 Jan 03; 64(1):18.
Score: 0.051
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Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia. PLoS One. 2022; 17(11):e0268149.
Score: 0.051
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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: 0.051
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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: 0.050
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The role of motor proteins in photoreceptor protein transport and visual function. Ophthalmic Genet. 2022 06; 43(3):285-300.
Score: 0.049
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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: 0.047
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Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. Am J Hum Genet. 2021 10 07; 108(10):2006-2016.
Score: 0.047
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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: 0.045
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Atypical and ultra-rare Usher syndrome: a review. Ophthalmic Genet. 2020 10; 41(5):401-412.
Score: 0.043
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High-throughput custom capture sequencing identifies novel mutations in coloboma-associated genes: Mutation in DNA-binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma. Hum Mutat. 2020 03; 41(3):678-695.
Score: 0.041
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Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy. Invest Ophthalmol Vis Sci. 2019 11 01; 60(14):4811-4819.
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: 0.041
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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: 0.040
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Using human sequencing to guide craniofacial research. Genesis. 2019 01; 57(1):e23259.
Score: 0.039
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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: 0.038
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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: 0.036
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Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. Am J Hum Genet. 2016 Dec 01; 99(6):1388-1394.
Score: 0.034
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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: 0.032
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TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. Am J Hum Genet. 2015 Dec 03; 97(6):922-32.
Score: 0.031
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MAP3K1 function is essential for cytoarchitecture of the mouse organ of Corti and survival of auditory hair cells. Dis Model Mech. 2015 Dec; 8(12):1543-53.
Score: 0.031
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Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. Nat Genet. 2015 Aug; 47(8):926-32.
Score: 0.031
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Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. Am J Hum Genet. 2015 May 07; 96(5):765-74.
Score: 0.030
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Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia. Am J Hum Genet. 2015 Apr 02; 96(4):519-31.
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: 0.027
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Math5 expression and function in the central auditory system. Mol Cell Neurosci. 2008 Jan; 37(1):153-69.
Score: 0.018