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Rachel M Huckfeldt, Ph.D., M.D.


Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Catomeris AJ, Ballios BG, Sangermano R, Wagner NE, Comander JI, Pierce EA, Place EM, Bujakowska KM, Huckfeldt RM. Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy. Ophthalmic Genet. 2022 Jan 20; 1-8. PMID: 35057699.
    Citations:    Fields:    
  2. Ballios BG, Place EM, Martinez-Velazquez L, Pierce EA, Comander JI, Huckfeldt RM. Beyond Sector Retinitis Pigmentosa: Expanding the Phenotype and Natural History of the Rhodopsin Gene Codon 106 Mutation (Gly-to-Arg) in Autosomal Dominant Retinitis Pigmentosa. Genes (Basel). 2021 11 23; 12(12). PMID: 34946802.
    Citations:    Fields:    Translation:Humans
  3. Richard AJ, Huckfeldt RM, Reichel E, Liang MC. Variants of Uncertain Significance: Twins With Identical Pathogenic Gene Mutations in Retinitis Punctata Albescens. Ophthalmic Surg Lasers Imaging Retina. 2021 08; 52(8):450-453. PMID: 34410188.
    Citations:    Fields:    Translation:Humans
  4. Sangermano R, Deitch I, Peter VG, Ba-Abbad R, Place EM, Zampaglione E, Wagner NE, Fulton AB, Coutinho-Santos L, Rosin B, Dunet V, AlTalbishi A, Banin E, Sousa AB, Neves M, Larson A, Quinodoz M, Michaelides M, Ben-Yosef T, Pierce EA, Rivolta C, Webster AR, Arno G, Sharon D, Huckfeldt RM, Bujakowska KM. Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD. NPJ Genom Med. 2021 Jun 29; 6(1):53. PMID: 34188062.
  5. da Palma MM, Igelman AD, Ku C, Burr A, You JY, Place EM, Wang NK, Oh JK, Branham KE, Zhang X, Ahn J, Gorin MB, Lam BL, Ronquillo CC, Bernstein PS, Nagiel A, Huckfeldt R, Cabrera MT, Kelly JP, Bakall B, Iannaccone A, Hufnagel RB, Zein WM, Koenekoop RK, Birch DG, Yang P, Fahim AT, Pennesi ME. Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome. Invest Ophthalmol Vis Sci. 2021 06 01; 62(7):27. PMID: 34185059.
    Citations:    Fields:    Translation:Humans
  6. Ferenchak K, Deitch I, Huckfeldt R. Antisense Oligonucleotide Therapy for Ophthalmic Conditions. Semin Ophthalmol. 2021 Aug 18; 36(5-6):452-457. PMID: 34010086.
    Citations:    Fields:    Translation:HumansCells
  7. Georgiou M, Fujinami K, Vincent A, Nasser F, Khateb S, Vargas ME, Thiadens AAHJ, de Carvalho ER, Nguyen XT, De Guimarães TAC, Robson AG, Mahroo OA, Pontikos N, Arno G, Fujinami-Yokokawa Y, Leo SM, Liu X, Tsunoda K, Hayashi T, Jimenez-Rolando B, Martin-Merida MI, Avila-Fernandez A, Carreño E, Garcia-Sandoval B, Ayuso C, Sharon D, Kohl S, Huckfeldt RM, Boon CJF, Banin E, Pennesi ME, Wissinger B, Webster AR, Héon E, Khan AO, Zrenner E, Michaelides M. KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2. Am J Ophthalmol. 2021 10; 230:1-11. PMID: 33737031.
    Citations:    Fields:    Translation:Humans
  8. Ballios BG, Pierce EA, Huckfeldt RM. Gene editing technology: Towards precision medicine in inherited retinal diseases. Semin Ophthalmol. 2021 May 19; 36(4):176-184. PMID: 33621144.
    Citations: 1     Fields:    Translation:Humans
  9. Georgiou M, Robson AG, Fujinami K, Leo SM, Vincent A, Nasser F, Cabral De Guimarães TA, Khateb S, Pontikos N, Fujinami-Yokokawa Y, Liu X, Tsunoda K, Hayashi T, Vargas ME, Thiadens AAHJ, de Carvalho ER, Nguyen XT, Arno G, Mahroo OA, Martin-Merida MI, Jimenez-Rolando B, Gordo G, Carreño E, Ayuso C, Sharon D, Kohl S, Huckfeldt RM, Wissinger B, Boon CJF, Banin E, Pennesi ME, Khan AO, Webster AR, Zrenner E, Héon E, Michaelides M. KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1. Am J Ophthalmol. 2021 05; 225:95-107. PMID: 33309813.
    Citations: 2     Fields:    Translation:Humans
  10. Birch DG, Cheng P, Duncan JL, Ayala AR, Maguire MG, Audo I, Cheetham JK, Durham TA, Fahim AT, Ferris FL, Heon E, Huckfeldt RM, Iannaccone A, Khan NW, Lad EM, Michaelides M, Pennesi ME, Stingl K, Vincent A, Weng CY. The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline. Transl Vis Sci Technol. 2020 10; 9(11):9. PMID: 33133772.
    Citations: 3     Fields:    Translation:Humans
  11. Fan NW, Li J, Mittal SK, Foulsham W, Elbasiony E, Huckfeldt RM, Chauhan SK, Chen Y. Characterization of Clinical and Immune Responses in an Experimental Chronic Autoimmune Uveitis Model. Am J Pathol. 2021 03; 191(3):425-437. PMID: 32966818.
    Citations: 2     Fields:    Translation:AnimalsCells
  12. Huckfeldt RM, Grigorian F, Place E, Comander JI, Vavvas D, Young LH, Yang P, Shurygina M, Pierce EA, Pennesi ME. Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum. Mol Vis. 2020; 26:423-433. PMID: 32565670.
    Citations: 2     Fields:    Translation:Humans
  13. Huckfeldt R, Sobrin L. BEST1-One Gene, Many Diseases. JAMA Ophthalmol. 2020 05 01; 138(5):552. PMID: 32239200.
    Citations:    Fields:    Translation:Humans
  14. Scott HA, Place EM, Ferenchak K, Zampaglione E, Wagner NE, Chao KR, DiTroia SP, Navarro-Gomez D, Mukai S, Huckfeldt RM, Pierce EA, Bujakowska KM. Expanding the phenotypic spectrum in RDH12-associated retinal disease. Cold Spring Harb Mol Case Stud. 2020 02; 6(1). PMID: 32014858.
    Citations: 4     Fields:    Translation:Humans
  15. Huckfeldt RM, Vavvas DG. Progressive Maculopathy After Discontinuation of Pentosan Polysulfate Sodium. Ophthalmic Surg Lasers Imaging Retina. 2019 10 01; 50(10):656-659. PMID: 31671200.
    Citations: 5     Fields:    Translation:Humans
  16. Stanwyck LK, Place EM, Comander J, Huckfeldt RM, Sobrin L. Predictive value of genetic testing for inherited retinal diseases in patients with suspected atypical autoimmune retinopathy. Am J Ophthalmol Case Rep. 2019 Sep; 15:100461. PMID: 31193260.
    Citations: 2     
  17. Gupta PR, Huckfeldt RM. Gene therapy for inherited retinal degenerations: initial successes and future challenges. J Neural Eng. 2017 10; 14(5):051002. PMID: 28829759.
    Citations: 9     Fields:    Translation:HumansAnimalsCells
  18. Huckfeldt RM, Comander J. Management of Cystoid Macular Edema in Retinitis Pigmentosa. Semin Ophthalmol. 2017; 32(1):43-51. PMID: 27748628.
    Citations: 5     Fields:    Translation:Humans
  19. Ramachandran PS, Lee V, Wei Z, Song JY, Casal G, Cronin T, Willett K, Huckfeldt R, Morgan JI, Aleman TS, Maguire AM, Bennett J. Evaluation of Dose and Safety of AAV7m8 and AAV8BP2 in the Non-Human Primate Retina. Hum Gene Ther. 2017 02; 28(2):154-167. PMID: 27750461.
    Citations: 45     Fields:    Translation:HumansAnimalsCells
  20. Huckfeldt RM, East JS, Stone EM, Sohn EH. Phenotypic Variation in a Family With Pseudodominant Stargardt Disease. JAMA Ophthalmol. 2016 May 01; 134(5):580-583. PMID: 27030965.
    Citations: 5     Fields:    
  21. Roybal CN, Kucukevcilioglu M, Huckfeldt R, Elshatory Y, Thurtell MJ, Folk JC. TREATMENT OF RETINOPATHY AND MACULAR EDEMA SECONDARY TO A CAROTID-CAVERNOUS FISTULA. Retin Cases Brief Rep. 2016; 10(3):225-8. PMID: 26536012.
    Citations: 1     Fields:    Translation:Humans
  22. Huckfeldt RM, Shah AS. Sterile subperiosteal fluid collections accompanying orbital wall infarction in sickle-cell disease. J AAPOS. 2014 Oct; 18(5):485-7. PMID: 25439304.
    Citations:    Fields:    Translation:Humans
  23. Cronin T, Vandenberghe LH, Hantz P, Juttner J, Reimann A, Kacsó AE, Huckfeldt RM, Busskamp V, Kohler H, Lagali PS, Roska B, Bennett J. Efficient transduction and optogenetic stimulation of retinal bipolar cells by a synthetic adeno-associated virus capsid and promoter. EMBO Mol Med. 2014 Sep; 6(9):1175-90. PMID: 25092770.
    Citations: 64     Fields:    Translation:HumansAnimalsCells
  24. Huckfeldt RM, Bennett J. Promising first steps in gene therapy for choroideremia. Hum Gene Ther. 2014 Feb; 25(2):96-7. PMID: 24502407.
    Citations: 1     Fields:    Translation:Humans
  25. Huckfeldt RM, Vavvas DG. Neuroprotection for retinal detachment. Int Ophthalmol Clin. 2013; 53(4):105-17. PMID: 24088937.
    Citations: 8     Fields:    Translation:HumansCells
  26. Schubert T, Huckfeldt RM, Parker E, Campbell JE, Wong RO. Assembly of the outer retina in the absence of GABA synthesis in horizontal cells. Neural Dev. 2010 Jun 18; 5:15. PMID: 20565821.
    Citations: 17     Fields:    Translation:AnimalsCells
  27. Huckfeldt RM, Schubert T, Morgan JL, Godinho L, Di Cristo G, Huang ZJ, Wong RO. Transient neurites of retinal horizontal cells exhibit columnar tiling via homotypic interactions. Nat Neurosci. 2009 Jan; 12(1):35-43. PMID: 19060895.
    Citations: 56     Fields:    Translation:AnimalsCells
  28. Morgan J, Huckfeldt R, Wong RO. Imaging techniques in retinal research. Exp Eye Res. 2005 Mar; 80(3):297-306. PMID: 15721612.
    Citations: 8     Fields:    Translation:AnimalsCells
  29. Herzog ED, Huckfeldt RM. Circadian entrainment to temperature, but not light, in the isolated suprachiasmatic nucleus. J Neurophysiol. 2003 Aug; 90(2):763-70. PMID: 12660349.
    Citations: 29     Fields:    Translation:AnimalsCells
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.