Robert Hufnagel to Phenotype
This is a "connection" page, showing publications Robert Hufnagel has written about Phenotype.
Connection Strength
3.284
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Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders. Brain. 2024 Jun 03; 147(6):2085-2097.
Score: 0.906
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Genotype-Phenotype Spectrum of eyeGENE Patients With Familial Exudative Vitreoretinopathy: Novel Variants in Norrin/?-Catenin Signaling Pathway Genes. Invest Ophthalmol Vis Sci. 2025 Feb 03; 66(2):9.
Score: 0.237
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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: 0.190
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Clinical and Histopathologic Correlates of Asymmetric Retinitis Pigmentosa. JAMA Ophthalmol. 2021 Sep 01; 139(9):1029-1032.
Score: 0.187
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Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy. Invest Ophthalmol Vis Sci. 2021 05 03; 62(6):22.
Score: 0.183
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The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature. Am J Med Genet C Semin Med Genet. 2020 09; 184(3):618-630.
Score: 0.174
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Atypical and ultra-rare Usher syndrome: a review. Ophthalmic Genet. 2020 10; 41(5):401-412.
Score: 0.171
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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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Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants. Clin Genet. 2025 Jan; 107(1):44-55.
Score: 0.058
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Genotype-Phenotype Association in ABCA4-Associated Retinopathy. Adv Exp Med Biol. 2023; 1415:289-295.
Score: 0.051
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Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome. Br J Ophthalmol. 2023 10; 107(10):1554-1559.
Score: 0.049
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Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies. Genes (Basel). 2022 05 22; 13(5).
Score: 0.049
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Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease. PLoS Genet. 2022 03; 18(3):e1010129.
Score: 0.049
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AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degeneration. Commun Biol. 2021 12 09; 4(1):1360.
Score: 0.048
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A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia. Mov Disord. 2022 02; 37(2):375-383.
Score: 0.047
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Phenotype and Genotype Correlations in Inherited Retinal Diseases: Population-Guided Variant Interpretation, Variable Expressivity and Incomplete Penetrance. Genes (Basel). 2020 10 29; 11(11).
Score: 0.044
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PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults. Invest Ophthalmol Vis Sci. 2020 10 01; 61(12):1.
Score: 0.044
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Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations. Am J Med Genet C Semin Med Genet. 2020 09; 184(3):644-655.
Score: 0.044
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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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Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation. Hum Mutat. 2020 01; 41(1):255-264.
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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Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features. Mol Genet Genomic Med. 2019 11; 7(11):e969.
Score: 0.041
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DICER1 Syndrome: Characterization of the Ocular Phenotype in a Family-Based Cohort Study. Ophthalmology. 2019 02; 126(2):296-304.
Score: 0.038
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In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics. Genet Med. 2018 01; 20(1):14-23.
Score: 0.035
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Benign Yellow Dot Maculopathy: A New Macular Phenotype. Ophthalmology. 2017 07; 124(7):1004-1013.
Score: 0.034
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Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency. Invest Ophthalmol Vis Sci. 2016 07 01; 57(8):3853-63.
Score: 0.033
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A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred. Clin Genet. 2016 07; 90(1):90-5.
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