Robert Hufnagel to Genetic Association Studies
This is a "connection" page, showing publications Robert Hufnagel has written about Genetic Association Studies.
Connection Strength
2.313
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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: 0.980
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Genotype-phenotype associations in a large PRPH2-related retinopathy cohort. Hum Mutat. 2020 09; 41(9):1528-1539.
Score: 0.713
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Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study. Hum Mutat. 2022 05; 43(5):613-624.
Score: 0.201
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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: 0.144
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Genotype-Phenotype Association in ABCA4-Associated Retinopathy. Adv Exp Med Biol. 2023; 1415:289-295.
Score: 0.053
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Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates. JCI Insight. 2022 01 25; 7(2).
Score: 0.050
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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: 0.046
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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: 0.043
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Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation. Hum Mutat. 2020 01; 41(1):255-264.
Score: 0.042
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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: 0.042