Robert Hufnagel to Humans
This is a "connection" page, showing publications Robert Hufnagel has written about Humans.
Connection Strength
1.878
-
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders. Brain. 2024 Jun 03; 147(6):2085-2097.
Score: 0.066
-
Early-Onset TIMP3-Related Retinopathy Associated With Impaired Signal Peptide. JAMA Ophthalmol. 2022 07 01; 140(7):730-733.
Score: 0.058
-
Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder. Genes (Basel). 2022 04 12; 13(4).
Score: 0.057
-
Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study. Hum Mutat. 2022 05; 43(5):613-624.
Score: 0.057
-
Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1. Genes (Basel). 2022 02 24; 13(3).
Score: 0.057
-
Clinical and Histopathologic Correlates of Asymmetric Retinitis Pigmentosa. JAMA Ophthalmol. 2021 Sep 01; 139(9):1029-1032.
Score: 0.055
-
UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly. Genet Med. 2021 09; 23(9):1624-1635.
Score: 0.054
-
Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy. Invest Ophthalmol Vis Sci. 2021 05 03; 62(6):22.
Score: 0.054
-
Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort. Sci Rep. 2020 11 17; 10(1):19986.
Score: 0.052
-
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: 0.051
-
Introduction to the special issue on Ophthalmic Genetics: Vision in 2020. Am J Med Genet C Semin Med Genet. 2020 09; 184(3):535-537.
Score: 0.051
-
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: 0.051
-
Genotype-phenotype associations in a large PRPH2-related retinopathy cohort. Hum Mutat. 2020 09; 41(9):1528-1539.
Score: 0.051
-
A new frontonasal dysplasia syndrome associated with deletion of the SIX2 gene. Am J Med Genet A. 2016 Feb; 170A(2):487-491.
Score: 0.037
-
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. J Med Genet. 2015 Feb; 52(2):85-94.
Score: 0.034
-
Gene therapy for Leber congenital amaurosis: advances and future directions. Graefes Arch Clin Exp Ophthalmol. 2012 Aug; 250(8):1117-28.
Score: 0.029
-
Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal Dystrophies. JAMA Ophthalmol. 2024 Nov 01; 142(11):1081-1086.
Score: 0.017
-
Epidemiology of Coloboma: Prevalence and Patterns in Texas, 1999-2014. Birth Defects Res. 2024 Nov; 116(11):e2413.
Score: 0.017
-
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: 0.017
-
Seeing in Color: Inclusion and Characterization of Hereditary Eye Disease in African Americans. Transl Vis Sci Technol. 2024 Sep 03; 13(9):4.
Score: 0.017
-
Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants. Clin Genet. 2025 Jan; 107(1):44-55.
Score: 0.017
-
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: 0.016
-
Dynamic changes in ocular shape during human development and its implications for retina fovea formation. Bioessays. 2024 Jan; 46(1):e2300054.
Score: 0.016
-
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: 0.016
-
A Comprehensive Report of Intrinsically Disordered Regions in Inherited Retinal Diseases. Genes (Basel). 2023 08 08; 14(8).
Score: 0.016
-
Natural History of Visual Dysfunction in ABCA4 Retinopathy and Its Genetic Correlates. Am J Ophthalmol. 2023 09; 253:224-232.
Score: 0.015
-
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: 0.015
-
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: 0.015
-
Genotype-Phenotype Association in ABCA4-Associated Retinopathy. Adv Exp Med Biol. 2023; 1415:289-295.
Score: 0.015
-
A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuh?user syndrome. Am J Med Genet A. 2023 02; 191(2):624-629.
Score: 0.015
-
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia. PLoS One. 2022; 17(11):e0268149.
Score: 0.015
-
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: 0.015
-
Zfp503/Nlz2 Is Required for RPE Differentiation and Optic Fissure Closure. Invest Ophthalmol Vis Sci. 2022 Nov 01; 63(12):5.
Score: 0.015
-
Structural integrity of retinal pigment epithelial cells in eyes with age-related scattered hypofluorescent spots on late phase indocyanine green angiography (ASHS-LIA). Eye (Lond). 2023 02; 37(2):377-378.
Score: 0.015
-
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: 0.015
-
Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation With Disease Severity. Am J Ophthalmol. 2022 12; 244:98-116.
Score: 0.015
-
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: 0.015
-
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: 0.015
-
Photoreceptor and Retinal Pigment Epithelium Relationships in Eyes With Vitelliform Macular Dystrophy Revealed by Multimodal Adaptive Optics Imaging. Invest Ophthalmol Vis Sci. 2022 07 08; 63(8):27.
Score: 0.015
-
Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome. Br J Ophthalmol. 2023 10; 107(10):1554-1559.
Score: 0.015
-
Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies. Genes (Basel). 2022 05 22; 13(5).
Score: 0.014
-
The role of motor proteins in photoreceptor protein transport and visual function. Ophthalmic Genet. 2022 06; 43(3):285-300.
Score: 0.014
-
ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease. Invest Ophthalmol Vis Sci. 2022 04 01; 63(4):20.
Score: 0.014
-
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease. PLoS Genet. 2022 03; 18(3):e1010129.
Score: 0.014
-
De novo frameshift mutation in YAP1 associated with bilateral uveal coloboma and microphthalmia. Ophthalmic Genet. 2022 08; 43(4):513-517.
Score: 0.014
-
Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates. JCI Insight. 2022 01 25; 7(2).
Score: 0.014
-
Review of evidence for environmental causes of uveal coloboma. Surv Ophthalmol. 2022 Jul-Aug; 67(4):1031-1047.
Score: 0.014
-
AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degeneration. Commun Biol. 2021 12 09; 4(1):1360.
Score: 0.014
-
Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome. Elife. 2021 11 09; 10.
Score: 0.014
-
A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia. Mov Disord. 2022 02; 37(2):375-383.
Score: 0.014
-
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: 0.014
-
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: 0.014
-
Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome. Invest Ophthalmol Vis Sci. 2021 06 01; 62(7):27.
Score: 0.013
-
Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism. Ophthalmic Genet. 2021 06; 42(3):320-325.
Score: 0.013
-
DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation. J Med Genet. 2022 03; 59(3):294-304.
Score: 0.013
-
A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia. Ophthalmic Epidemiol. 2021 10; 28(5):428-435.
Score: 0.013
-
Response to Finsterer's "Exclude hereditary and acquired differential disorders before attributing retinoschisis to Kears-Sayre syndrome". Ophthalmic Genet. 2021 02; 42(1):100.
Score: 0.013
-
An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist. Am J Med Genet C Semin Med Genet. 2020 12; 184(4):996-1008.
Score: 0.013
-
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: 0.013
-
PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults. Invest Ophthalmol Vis Sci. 2020 10 01; 61(12):1.
Score: 0.013
-
Ocular genetics in the genomics age. Am J Med Genet C Semin Med Genet. 2020 09; 184(3):860-868.
Score: 0.013
-
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: 0.013
-
Ophthalmic genetics in South America. Am J Med Genet C Semin Med Genet. 2020 09; 184(3):753-761.
Score: 0.013
-
Retinoschisis associated with Kearns-Sayre syndrome. Ophthalmic Genet. 2020 10; 41(5):497-500.
Score: 0.013
-
Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis. Am J Med Genet A. 2020 10; 182(10):2214-2221.
Score: 0.013
-
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: 0.013
-
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: 0.013
-
Ocular and Systemic Findings in Adults with Uveal Coloboma. Ophthalmology. 2020 12; 127(12):1772-1774.
Score: 0.013
-
Atypical and ultra-rare Usher syndrome: a review. Ophthalmic Genet. 2020 10; 41(5):401-412.
Score: 0.013
-
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: 0.012
-
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: 0.012
-
Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy. Invest Ophthalmol Vis Sci. 2019 11 01; 60(14):4811-4819.
Score: 0.012
-
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation. Hum Mutat. 2020 01; 41(1):255-264.
Score: 0.012
-
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission. Sci Adv. 2019 09; 5(9):eaax2166.
Score: 0.012
-
Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features. Mol Genet Genomic Med. 2019 11; 7(11):e969.
Score: 0.012
-
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: 0.012
-
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: 0.012
-
Using human sequencing to guide craniofacial research. Genesis. 2019 01; 57(1):e23259.
Score: 0.011
-
DICER1 Syndrome: Characterization of the Ocular Phenotype in a Family-Based Cohort Study. Ophthalmology. 2019 02; 126(2):296-304.
Score: 0.011
-
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: 0.011
-
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: 0.010
-
In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics. Genet Med. 2018 01; 20(1):14-23.
Score: 0.010
-
Benign Yellow Dot Maculopathy: A New Macular Phenotype. Ophthalmology. 2017 07; 124(7):1004-1013.
Score: 0.010
-
Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS. Mol Genet Metab. 2017 04; 120(4):378-383.
Score: 0.010
-
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. Am J Hum Genet. 2016 Dec 01; 99(6):1388-1394.
Score: 0.010
-
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: 0.010
-
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: 0.010
-
A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred. Clin Genet. 2016 07; 90(1):90-5.
Score: 0.009
-
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. Am J Hum Genet. 2015 Dec 03; 97(6):922-32.
Score: 0.009
-
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: 0.009
-
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. Lancet Neurol. 2015 Dec; 14(12):1182-95.
Score: 0.009
-
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: 0.009
-
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. Nat Genet. 2015 Aug; 47(8):926-32.
Score: 0.009
-
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: 0.009
-
Small bowel malrotation in distal 15q duplication: evidence for a rare association. Clin Dysmorphol. 2015 Apr; 24(2):65-7.
Score: 0.009
-
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia. Am J Hum Genet. 2015 Apr 02; 96(4):519-31.
Score: 0.009
-
A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia. Am J Med Genet A. 2014 Oct; 164A(10):2607-12.
Score: 0.008
-
Planned preterm delivery and treatment of retinal neovascularization in Norrie disease. Ophthalmology. 2014 Jun; 121(6):1312-3.
Score: 0.008
-
Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy. Hum Gene Ther. 2013 Dec; 24(12):993-1006.
Score: 0.008