Robert Hufnagel to Mutation, Missense
This is a "connection" page, showing publications Robert Hufnagel has written about Mutation, Missense.
Connection Strength
1.647
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Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort. Sci Rep. 2020 11 17; 10(1):19986.
Score: 0.742
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Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders. Brain. 2024 Jun 03; 147(6):2085-2097.
Score: 0.237
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Genotype-phenotype associations in a large PRPH2-related retinopathy cohort. Hum Mutat. 2020 09; 41(9):1528-1539.
Score: 0.181
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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: 0.171
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Bilateral cataracts in a 6-yr-old with new onset diabetes: a novel presentation of a known INS gene mutation. Pediatr Diabetes. 2016 11; 17(7):535-539.
Score: 0.131
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A Comprehensive Report of Intrinsically Disordered Regions in Inherited Retinal Diseases. Genes (Basel). 2023 08 08; 14(8).
Score: 0.056
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Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia. PLoS One. 2022; 17(11):e0268149.
Score: 0.053
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Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis. Am J Med Genet A. 2020 10; 182(10):2214-2221.
Score: 0.046
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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: 0.031