Robert Hufnagel to Female
This is a "connection" page, showing publications Robert Hufnagel has written about Female.
Connection Strength
1.354
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Generation of four human pluripotent stem cell lines harboring OPA1-related optic atrophy variant. Stem Cell Res. 2025 Sep; 87:103766.
Score: 0.082
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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: 0.080
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Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders. Brain. 2024 Jun 03; 147(6):2085-2097.
Score: 0.076
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Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder. Genes (Basel). 2022 04 12; 13(4).
Score: 0.066
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Clinical and Histopathologic Correlates of Asymmetric Retinitis Pigmentosa. JAMA Ophthalmol. 2021 Sep 01; 139(9):1029-1032.
Score: 0.063
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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: 0.062
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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: 0.060
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Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network. Am J Med Genet C Semin Med Genet. 2020 09; 184(3):828-837.
Score: 0.059
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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: 0.059
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Genotype-phenotype associations in a large PRPH2-related retinopathy cohort. Hum Mutat. 2020 09; 41(9):1528-1539.
Score: 0.058
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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: 0.042
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Whole Exome Sequencing Study Uncovers Novel Candidate Genes and Protein-Coding Variants for Cataract. Invest Ophthalmol Vis Sci. 2025 Aug 01; 66(11):32.
Score: 0.021
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Variants in NR6A1 cause a novel oculo vertebral renal syndrome. Nat Commun. 2025 Jul 03; 16(1):6111.
Score: 0.021
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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: 0.021
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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: 0.020
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Epidemiology of Coloboma: Prevalence and Patterns in Texas, 1999-2014. Birth Defects Res. 2024 Nov; 116(11):e2413.
Score: 0.020
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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: 0.019
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RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3'-end of ORF15. Invest Ophthalmol Vis Sci. 2023 09 01; 64(12):19.
Score: 0.018
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A novel variant affecting the cytoplasmic tail of the FAT1 protocadherin causing coloboma and renal failure: A case report. Ophthalmic Genet. 2023 04; 44(2):182-185.
Score: 0.017
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Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF ?B-Mediated Autoinflammatory Disease with Retinal Dystrophy. Ophthalmology. 2023 04; 130(4):423-432.
Score: 0.017
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Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics. Commun Biol. 2022 09 13; 5(1):893.
Score: 0.017
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Long-Term Anatomic and Visual Outcomes of Planned Preterm Delivery and Treatment of Norrie Disease. Ophthalmic Surg Lasers Imaging Retina. 2022 08; 53(8):464-467.
Score: 0.017
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Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates. JCI Insight. 2022 01 25; 7(2).
Score: 0.016
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Review of evidence for environmental causes of uveal coloboma. Surv Ophthalmol. 2022 Jul-Aug; 67(4):1031-1047.
Score: 0.016
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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: 0.016
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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: 0.016
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Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A). Am J Med Genet A. 2021 12; 185(12):3717-3727.
Score: 0.016
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Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome. Invest Ophthalmol Vis Sci. 2021 06 01; 62(7):27.
Score: 0.016
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Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism. Ophthalmic Genet. 2021 06; 42(3):320-325.
Score: 0.015
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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: 0.015
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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: 0.015
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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: 0.015
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A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis. Am J Med Genet C Semin Med Genet. 2020 09; 184(3):631-643.
Score: 0.015
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Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity. Am J Ophthalmol. 2020 11; 219:87-100.
Score: 0.014
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Ocular and Systemic Findings in Adults with Uveal Coloboma. Ophthalmology. 2020 12; 127(12):1772-1774.
Score: 0.014
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Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort. Am J Med Genet A. 2020 03; 182(3):493-497.
Score: 0.014
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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: 0.014
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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: 0.014
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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: 0.014
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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: 0.014
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Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. Am J Hum Genet. 2019 10 03; 105(4):689-705.
Score: 0.014
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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: 0.013
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Using human sequencing to guide craniofacial research. Genesis. 2019 01; 57(1):e23259.
Score: 0.013
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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: 0.013
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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: 0.012
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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: 0.012
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Benign Yellow Dot Maculopathy: A New Macular Phenotype. Ophthalmology. 2017 07; 124(7):1004-1013.
Score: 0.012
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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: 0.011
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A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. Am J Hum Genet. 2016 06 02; 98(6):1256-1265.
Score: 0.011
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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: 0.011
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The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1. J Pediatr. 2015 Oct; 167(4):851-856.e1.
Score: 0.010
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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: 0.010
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A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia. Am J Med Genet A. 2014 Oct; 164A(10):2607-12.
Score: 0.010
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Planned preterm delivery and treatment of retinal neovascularization in Norrie disease. Ophthalmology. 2014 Jun; 121(6):1312-3.
Score: 0.009
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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: 0.009