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Robert B. Hufnagel, MD, PhD

TitleInvestigator
InstitutionKaiser Permanente Hawaii
DepartmentCenter for Integrated Health Care Research
Address501 Alakawa Street, Suite 201
Honolulu HI 96817
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    Collapse Bibliographic 
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    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. Neelathi UM, Ullah E, George A, Maftei MI, Boobalan E, Sanchez-Mendoza D, Adams C, McGaughey D, Sergeev YV, Rawi RA, Naik A, Bender C, Maumenee IH, Michaelides M, Tan TG, Lin S, Villasmil R, Blain D, Hufnagel RB, Arno G, Young RM, Guan B, Brooks BP. Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome. Res Sq. 2024 Nov 15. PMID: 39606449; PMCID: PMC11601836.
      Citations:    
    2. Neelathi UM, Ullah E, George A, Maftei MI, Boobalan E, Sanchez-Mendoza D, Adams C, McGaughey D, Sergeev YV, Rawi RA, Naik A, Bender C, Maumenee IH, Michaelides M, Tan TG, Lin S, Villasmil R, Blain D, Hufnagel RB, Arno G, Young RM, Guan B, Brooks BP. Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome. medRxiv. 2024 Nov 11. PMID: 39606382; PMCID: PMC11601759.
      Citations:    
    3. Abuzaitoun RO, Branham KH, Lacy GD, Hufnagel RB, Kumar MM, Koskenvuo JW, Tuupanen S, Durham T, Zhao PY, Abalem MF, Andrews CA, Schlegel D, Khan NW, Fahim AT, Heckenlively JR, Musch DC, Jayasundera KT. Racial Disparities in Genetic Detection Rates for Inherited Retinal Diseases. JAMA Ophthalmol. 2024 Nov 07. PMID: 39509105; PMCID: PMC11544549.
      Citations:    Fields:    
    4. Ullah E, Lin S, Lu J, Bender C, Webster AR, Malka S, Madhusudhan S, Rees E, Williams D, Agather AR, Cukras CA, Hufnagel RB, Chen R, Huryn LA, Arno G, Guan B. Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal Dystrophies. JAMA Ophthalmol. 2024 Nov 01; 142(11):1081-1086. PMID: 39325468; PMCID: PMC11428035.
      Citations:    Fields:    Translation:HumansAnimals
    5. Mitchell DL, Chambers TM, Agopian AJ, Benjamin RH, Shumate CJ, Slavotinek A, Hufnagel RB, Brooks BP, Mitchell LE, Lupo PJ. Epidemiology of Coloboma: Prevalence and Patterns in Texas, 1999-2014. Birth Defects Res. 2024 Nov; 116(11):e2413. PMID: 39530497.
      Citations:    Fields:    Translation:Humans
    6. Venkatesh A, McKenty T, Ali S, Sonntag D, Ravipaty S, Cui Y, Slate D, Lin Q, Christiansen A, Jacobson S, Kach J, Lim KH, Srinivasan V, Zinshteyn B, Aznarez I, Huryn LA, Li Z, Hufnagel RB, Liau G, Anderson K, Hoger J. 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. PMID: 39264859; PMCID: PMC11564677.
      Citations:    Fields:    Translation:HumansAnimalsCells
    7. Owete AC, Ionin R, Huryn LA, Cukras CA, Blain D, Agather AR, Hufnagel RB, Brooks BP, Nwanyanwu K, Zein WM. Seeing in Color: Inclusion and Characterization of Hereditary Eye Disease in African Americans. Transl Vis Sci Technol. 2024 Sep 03; 13(9):4. PMID: 39226063; PMCID: PMC11373706.
      Citations:    Fields:    Translation:Humans
    8. Bauwens M, De Man V, Audo I, Balikova I, Zein WM, Smirnov V, Held S, Vermeer S, Loos E, Jacob J, Casteels I, D?sir J, Depasse F, Van de Sompele S, Van Heetvelde M, De Bruyne M, Andrieu C, Condroyer C, Antonio A, Hufnagel R, Carvalho AL, Marques JP, Zeitz C, De Baere E, Damme M. Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants. Clin Genet. 2025 Jan; 107(1):44-55. PMID: 39199020; PMCID: PMC11608847.
      Citations: 1     Fields:    Translation:Humans
    9. Liu J, He Y, Lwin C, Han M, Guan B, Naik A, Bender C, Moore N, Huryn LA, Sergeev YV, Qian H, Zeng Y, Dong L, Liu P, Lei J, Haugen CJ, Prasov L, Shi R, Dollfus H, Aristodemou P, Laich Y, N?meth AH, Taylor J, Downes S, Krawczynski MR, Meunier I, Strassberg M, Tenney J, Gao J, Shear MA, Moore AT, Duncan JL, Menendez B, Hull S, Vincent AL, Siskind CE, Traboulsi EI, Blackstone C, Sisk RA, Miraldi Utz V, Webster AR, Michaelides M, Arno G, Synofzik M, Hufnagel RB. Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders. Brain. 2024 Jun 03; 147(6):2085-2097. PMID: 38735647; PMCID: PMC11146429.
      Citations:    Fields:    Translation:HumansAnimals
    10. Dimopoulos IS, Huryn LA, Hufnagel RB, Ullah E, Agather AR, Blain D, Brooks BP, Cukras CA, Zein WM. Outer retinal microcavitations in Retinitis Pigmentosa: a novel OCT finding common in RP1-related retinopathy. Retina. 2024 Mar 12. PMID: 38478753.
      Citations:    Fields:    Translation:Humans
    11. Adeghate JO, Sherman J, Bass S, Liu J, Hufnagel RB, Yannuzzi LA. Boucher-Neuhauser Syndrome: Chorioretinal Changes in a Single Case Over Time. Retin Cases Brief Rep. 2024 Mar 06. PMID: 38447053.
      Citations:    Fields:    
    12. Kunisetty B, Martin-Giacalone BA, Zhao X, Luna PN, Brooks BP, Hufnagel RB, Shaw CA, Rosenfeld JA, Agopian AJ, Lupo PJ, Scott DA. 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. PMID: 38502138; PMCID: PMC10959191.
      Citations: 1     Fields:    Translation:HumansAnimals
    13. Deignan JL, Aggarwal V, Bale AE, Bellissimo DB, Booker JK, Cao Y, Crooks KR, Deak KL, Del Gaudio D, Funke B, Hoppman NL, Horner V, Hufnagel RB, Jackson-Cook C, Koduru P, Leung ML, Li S, Liu P, Luo M, Mao R, Mason-Suares H, Mikhail FM, Moore SR, Naeem RC, Pollard LM, Repnikova EA, Shao L, Shaw BM, Shetty S, Smolarek TA, Spiteri E, Van Ziffle J, Vance GH, Vnencak-Jones CL, Williams ES. The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors. Genet Med Open. 2024; 2. PMID: 39175871; PMCID: PMC11340206.
      Citations:    
    14. Rasys AM, Wegerski A, Trainor PA, Hufnagel RB, Menke DB, Lauderdale JD. Dynamic changes in ocular shape during human development and its implications for retina fovea formation. Bioessays. 2024 Jan; 46(1):e2300054. PMID: 38037292.
      Citations:    Fields:    Translation:HumansCells
    15. Guan B, Bender C, Pantrangi M, Moore N, Reeves M, Naik A, Li H, Goetz K, Blain D, Agather A, Cukras C, Zein WM, Huryn LA, Brooks BP, Hufnagel RB. The qMini assay identifies an overlooked class of splice variants. medRxiv. 2023 Nov 03. PMID: 38076877; PMCID: PMC10705652.
      Citations:    
    16. Serbinski CR, Vanderwal A, Chadwell SE, Sanchez AI, Hopkin RJ, Hufnagel RB, Weaver KN, Prada CE. Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies. Am J Med Genet A. 2023 Sep 29. PMID: 37774117.
      Citations:    Fields:    Translation:Humans
    17. Liu J, Hufnagel RB. PNPLA6 disorders: what's in a name? Ophthalmic Genet. 2023 Sep 21; 1-9. PMID: 37732399.
      Citations: 1     Fields:    Translation:HumansAnimals
    18. Benson MD, Mukherjee S, Agather AR, Blain D, Cunningham D, Mays R, Sun X, Li T, Hufnagel RB, Brooks BP, Huryn LA, Zein WM, Cukras CA. 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. PMID: 37695603; PMCID: PMC10501488.
      Citations: 1     Fields:    Translation:HumansCells
    19. Lee KE, Pulido JS, da Palma MM, Procopio R, Hufnagel RB, Reynolds M. A Comprehensive Report of Intrinsically Disordered Regions in Inherited Retinal Diseases. Genes (Basel). 2023 08 08; 14(8). PMID: 37628652; PMCID: PMC10454668.
      Citations:    Fields:    Translation:Humans
    20. Liu J, He Y, Lwin C, Han M, Guan B, Naik A, Bender C, Moore N, Huryn LA, Sergeev Y, Qian H, Zeng Y, Dong L, Liu P, Lei J, Haugen CJ, Prasov L, Shi R, Dollfus H, Aristodemou P, Laich Y, N?meth AH, Taylor J, Downes S, Krawczynski M, Meunier I, Strassberg M, Tenney J, Gao J, Shear MA, Moore AT, Duncan JL, Menendez B, Hull S, Vincent A, Siskind CE, Traboulsi EI, Blackstone C, Sisk R, Utz V, Webster AR, Michaelides M, Arno G, Synofzik M, Hufnagel RB. Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders. bioRxiv. 2023 Jun 11. PMID: 37333224; PMCID: PMC10274907.
      Citations:    
    21. Pfau M, Huryn LA, Boyle MP, Cukras CA, Zein WM, Turriff A, Ullah E, Hufnagel RB, Jeffrey BG, Brooks BP. Natural History of Visual Dysfunction in ABCA4 Retinopathy and Its Genetic Correlates. Am J Ophthalmol. 2023 09; 253:224-232. PMID: 37211138; PMCID: PMC10524499.
      Citations: 2     Fields:    Translation:Humans
    22. Faridi R, Yousaf R, Gu S, Inagaki S, Turriff AE, Pelstring K, Guan B, Naik A, Griffith AJ, Adadey SM, Aboagye ET, Awandare GA, Morell RJ, Tsilou E, Noyes AG, Sulmonte LAG, Wonkam A, Schrauwen I, Leal SM, Azaiez H, Brewer CC, Riazuddin S, Hufnagel RB, Hoa M, Zein WM, de Dios JK, Friedman TB. 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. PMID: 36807241.
      Citations: 3     Fields:    Translation:HumansAnimals
    23. Vieta-Ferrer ER, Ullah E, Blain D, Christensen JA, Brewer CC, Balow JE, George A, Hufnagel RB, Cogliati T, Brooks BP. 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. PMID: 36951427; PMCID: PMC10039284.
      Citations:    Fields:    Translation:Humans
    24. Sin TN, Kim S, Li Y, Wang J, Chen R, Chung SH, Kim S, Casanova MI, Park S, Smit-McBride Z, Sun N, Pomerantz O, Roberts JA, Guan B, Hufnagel RB, Moshiri A, Thomasy SM, Sieving PA, Yiu G. A Spontaneous Nonhuman Primate Model of Myopic Foveoschisis. Invest Ophthalmol Vis Sci. 2023 Jan 03; 64(1):18. PMID: 36689233; PMCID: PMC9896856.
      Citations: 4     Fields:    Translation:Animals
    25. Pfau M, Zein WM, Huryn LA, Cukras CA, Jeffrey BG, Hufnagel RB, Brooks BP. Genotype-Phenotype Association in ABCA4-Associated Retinopathy. Adv Exp Med Biol. 2023; 1415:289-295. PMID: 37440047.
      Citations: 1     Fields:    Translation:Humans
    26. Peretz RH, Zein WM, Hufnagel RB, Ku C, Godfrey R, Wolfe L, Adams D, Gahl W, Toro C. A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuh?user syndrome. Am J Med Genet A. 2023 02; 191(2):624-629. PMID: 36541585.
      Citations:    Fields:    Translation:Humans
    27. Mungale A, McGaughey DM, Zhang C, Yousaf S, Liu J, Brooks BP, Maminishkis A, Fufa TD, Hufnagel RB. Transcriptional mapping of the macaque retina and RPE-choroid reveals conserved inter-tissue transcription drivers and signaling pathways. Front Genet. 2022; 13:949449. PMID: 36506320; PMCID: PMC9732541.
      Citations: 1     
    28. Hall HN, Bengani H, Hufnagel RB, Damante G, Ansari M, Marsh JA, Grimes GR, Kriegsheim AV, Moore D, McKie L, Rahmat J, Mio C, Blyth M, Keng WT, Islam L, McEntargart M, Mannens MM, Heyningen VV, Rainger J, Brooks BP, FitzPatrick DR. Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia. PLoS One. 2022; 17(11):e0268149. PMID: 36413568; PMCID: PMC9681113.
      Citations: 4     Fields:    Translation:HumansAnimals
    29. Huryn LA, Kozycki CT, Serpen JY, Zein WM, Ullah E, Iannaccone A, Williams LB, Sobrin L, Brooks BP, Sen HN, Hufnagel RB, Kastner DL, Kodati S. 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. PMID: 36332842; PMCID: PMC10038920.
      Citations: 6     Fields:    Translation:Humans
    30. Boobalan E, Thompson AH, Alur RP, McGaughey DM, Dong L, Shih G, Vieta-Ferrer ER, Onojafe IF, Kalaskar VK, Arno G, Lotery AJ, Guan B, Bender C, Memon O, Brinster L, Soleilhavoup C, Panman L, Badea TC, Minella A, Lopez AJ, Thomasy SM, Moshiri A, Blain D, Hufnagel RB, Cogliati T, Bharti K, Brooks BP. Zfp503/Nlz2 Is Required for RPE Differentiation and Optic Fissure Closure. Invest Ophthalmol Vis Sci. 2022 Nov 01; 63(12):5. PMID: 36326727; PMCID: PMC9645360.
      Citations: 3     Fields:    Translation:HumansAnimals
    31. Malechka VV, Duong D, Bordonada KD, Turriff A, Blain D, Murphy E, Introne WJ, Gochuico BR, Adams DR, Zein WM, Brooks BP, Huryn LA, Solomon BD, Hufnagel RB. Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia. Ophthalmol Sci. 2023 Mar; 3(1):100225. PMID: 36339947; PMCID: PMC9634033.
      Citations: 5     
    32. Li J, Aguilera N, Liu T, Bower AJ, Giannini JP, Cukras C, Keenan TDL, Chew E, Brooks BP, Zein WM, Huryn LA, Hufnagel RB, Tam J. 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. PMID: 36115884; PMCID: PMC9873905.
      Citations: 2     Fields:    Translation:HumansCells
    33. Aguilera N, Liu T, Bower AJ, Li J, Abouassali S, Lu R, Giannini J, Pfau M, Bender C, Smelkinson MG, Naik A, Guan B, Schwartz O, Volkov A, Dubra A, Liu Z, Hammer DX, Maric D, Fariss R, Hufnagel RB, Jeffrey BG, Brooks BP, Zein WM, Huryn LA, Tam J. Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics. Commun Biol. 2022 09 13; 5(1):893. PMID: 36100689; PMCID: PMC9470576.
      Citations: 7     Translation:HumansCells
    34. Lad EM, Duncan JL, Liang W, Maguire MG, Ayala AR, Audo I, Birch DG, Carroll J, Cheetham JK, Durham TA, Fahim AT, Loo J, Deng Z, Mukherjee D, Heon E, Hufnagel RB, Guan B, Iannaccone A, Jaffe GJ, Kay CN, Michaelides M, Pennesi ME, Vincent A, Weng CY, Farsiu S, Foundation Fighting Blindness Consortium Investigator Group. Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation With Disease Severity. Am J Ophthalmol. 2022 12; 244:98-116. PMID: 36007554; PMCID: PMC9712171.
      Citations: 11     Fields:    Translation:Humans
    35. Sisk RA, Miraldi-Utz V, Schwartz TL, Hufnagel RB, Ahmed ZM. 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. PMID: 35951720.
      Citations: 1     Fields:    Translation:Humans
    36. Kozycki CT, Kodati S, Huryn L, Wang H, Warner BM, Jani P, Hammoud D, Abu-Asab MS, Jittayasothorn Y, Mattapallil MJ, Tsai WL, Ullah E, Zhou P, Tian X, Soldatos A, Moutsopoulos N, Kao-Hsieh M, Heller T, Cowen EW, Lee CR, Toro C, Kalsi S, Khavandgar Z, Baer A, Beach M, Long Priel D, Nehrebecky M, Rosenzweig S, Romeo T, Deuitch N, Brenchley L, Pelayo E, Zein W, Sen N, Yang AH, Farley G, Sweetser DA, Briere L, Yang J, de Oliveira Poswar F, Schwartz IVD, Silva Alves T, Dusser P, Kon?-Paut I, Touitou I, Titah SM, van Hagen PM, van Wijck RTA, van der Spek PJ, Yano H, Benneche A, Apalset EM, Jansson RW, Caspi RR, Kuhns DB, Gadina M, Takada H, Ida H, Nishikomori R, Verrecchia E, Sangiorgi E, Manna R, Brooks BP, Sobrin L, Hufnagel RB, Beck D, Shao F, Ombrello AK, Aksentijevich I, Kastner DL, Undiagnosed Diseases Network. 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. PMID: 35868845; PMCID: PMC9484401.
      Citations: 13     Fields:    Translation:HumansAnimals
    37. Liu T, Aguilera N, Bower AJ, Li J, Ullah E, Dubra A, Cukras C, Brooks BP, Jeffrey BG, Hufnagel RB, Huryn LA, Zein WM, Tam J. 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. PMID: 35900727; PMCID: PMC9344216.
      Citations: 3     Fields:    Translation:HumansCells
    38. Guan B, Huryn LA, Hughes AB, Li Z, Bender C, Blain D, Turriff A, Cukras CA, Hufnagel RB. Early-Onset TIMP3-Related Retinopathy Associated With Impaired Signal Peptide. JAMA Ophthalmol. 2022 07 01; 140(7):730-733. PMID: 35679059; PMCID: PMC9185517.
      Citations:    Fields:    Translation:HumansCells
    39. Huryn LA, Flaherty T, Nolen R, Prasov L, Zein WM, Cukras CA, Osgood S, Raja N, Levin MD, Vitale S, Brooks BP, Hufnagel RB, Kozel BA. Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome. Br J Ophthalmol. 2023 10; 107(10):1554-1559. PMID: 35760456; PMCID: PMC10074447.
      Citations: 2     Fields:    Translation:Humans
    40. Malechka VV, Cukras CA, Chew EY, Sergeev YV, Blain D, Jeffrey BG, Ullah E, Hufnagel RB, Brooks BP, Huryn LA, Zein WM. Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies. Genes (Basel). 2022 05 22; 13(5). PMID: 35627310; PMCID: PMC9140808.
      Citations: 1     Fields:    Translation:Humans
    41. Radhakrishnan R, Dronamraju VR, Leung M, Gruesen A, Solanki AK, Walterhouse S, Roehrich H, Song G, da Costa Monsanto R, Cureoglu S, Martin R, Kondkar AA, van Kuijk FJ, Montezuma SR, Kn?elker HJ, Hufnagel RB, Lobo GP. The role of motor proteins in photoreceptor protein transport and visual function. Ophthalmic Genet. 2022 06; 43(3):285-300. PMID: 35470760; PMCID: PMC9451523.
      Citations: 3     Fields:    Translation:HumansAnimalsCells
    42. Bender C, Woo EG, Guan B, Ullah E, Feng E, Turriff A, Tumminia SJ, Sieving PA, Cukras CA, Hufnagel RB. Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder. Genes (Basel). 2022 04 12; 13(4). PMID: 35456481; PMCID: PMC9029724.
      Citations:    Fields:    Translation:Humans
    43. Corradi Z, Salameh M, Khan M, H?on E, Mishra K, Hitti-Malin RJ, AlSwaiti Y, Aslanian A, Banin E, Brooks BP, Zein WM, Hufnagel RB, Roosing S, Dhaenens CM, Sharon D, Cremers FPM, AlTalbishi A. 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. PMID: 35475888; PMCID: PMC9055564.
      Citations: 1     Fields:    Translation:Humans
    44. Zernant J, Lee W, Wang J, Goetz K, Ullah E, Nagasaki T, Su PY, Fishman GA, Tsang SH, Tumminia SJ, Brooks BP, Hufnagel RB, Chen R, Allikmets R. Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease. PLoS Genet. 2022 03; 18(3):e1010129. PMID: 35353811; PMCID: PMC9000055.
      Citations: 4     Fields:    Translation:Humans
    45. DeYoung C, Guan B, Ullah E, Blain D, Hufnagel RB, Brooks BP. De novo frameshift mutation in YAP1 associated with bilateral uveal coloboma and microphthalmia. Ophthalmic Genet. 2022 08; 43(4):513-517. PMID: 35318877.
      Citations: 3     Fields:    Translation:Humans
    46. Hufnagel RB, Liang W, Duncan JL, Brewer CC, Audo I, Ayala AR, Branham K, Cheetham JK, Daiger SP, Durham TA, Guan B, Heon E, Hoyng CB, Iannaccone A, Kay CN, Michaelides M, Pennesi ME, Singh MS, Ullah E, Foundation Fighting Blindness Consortium Investigator Group. Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study. Hum Mutat. 2022 05; 43(5):613-624. PMID: 35266249; PMCID: PMC9018588.
      Citations: 9     Fields:    Translation:Humans
    47. Ahmed MR, Sethna S, Krueger LA, Yang MB, Hufnagel RB. Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1. Genes (Basel). 2022 02 24; 13(3). PMID: 35327965; PMCID: PMC8949076.
      Citations: 2     Fields:    Translation:Humans
    48. Pfau M, Cukras CA, Huryn LA, Zein WM, Ullah E, Boyle MP, Turriff A, Chen MA, Hinduja AS, Siebel HE, Hufnagel RB, Jeffrey BG, Brooks BP. Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates. JCI Insight. 2022 01 25; 7(2). PMID: 35076026; PMCID: PMC8855828.
      Citations: 8     Fields:    Translation:HumansCells
    49. Selzer EB, Blain D, Hufnagel RB, Lupo PJ, Mitchell LE, Brooks BP. Review of evidence for environmental causes of uveal coloboma. Surv Ophthalmol. 2022 Jul-Aug; 67(4):1031-1047. PMID: 34979194; PMCID: PMC9167256.
      Citations:    Fields:    Translation:Humans
    50. Miyagishima KJ, Sharma R, Nimmagadda M, Clore-Gronenborn K, Qureshy Z, Ortolan D, Bose D, Farnoodian M, Zhang C, Fausey A, Sergeev YV, Abu-Asab M, Jun B, Do KV, Kautzman Guerin MA, Calandria J, George A, Guan B, Wan Q, Sharp RC, Cukras C, Sieving PA, Hufnagel RB, Bazan NG, Boesze-Battaglia K, Miller S, Bharti K. AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degeneration. Commun Biol. 2021 12 09; 4(1):1360. PMID: 34887495; PMCID: PMC8660775.
      Citations: 14     Translation:Humans
    51. Sethna S, Zein WM, Riaz S, Giese AP, Schultz JM, Duncan T, Hufnagel RB, Brewer CC, Griffith AJ, Redmond TM, Riazuddin S, Friedman TB, Ahmed ZM. Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome. Elife. 2021 11 09; 10. PMID: 34751129; PMCID: PMC8577840.
      Citations: 10     Fields:    Translation:HumansAnimalsCells
    52. Swamy VS, Fufa TD, Hufnagel RB, McGaughey DM. Building the mega single-cell transcriptome ocular meta-atlas. Gigascience. 2021 10 13; 10(10). PMID: 34651173; PMCID: PMC8514335.
      Citations: 11     Fields:    Translation:Cells
    53. Neilson DE, Zech M, Hufnagel RB, Slone J, Wang X, Homan S, Gutzwiller LM, Leslie EJ, Leslie ND, Xiao J, Hedera P, LeDoux MS, Gebelein B, Wilbert F, Eckenweiler M, Winkelmann J, Gilbert DL, Huang T. A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia. Mov Disord. 2022 02; 37(2):375-383. PMID: 34636445; PMCID: PMC8840961.
      Citations: 7     Fields:    Translation:Humans
    54. Richard EM, Bakhtiari S, Marsh APL, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, Nordlie SM, Guida BS, Cornejo P, Magee H, Liu J, Norton BY, Webster RI, Worgan L, Hakonarson H, Li J, Guo Y, Jain M, Blesson A, Rodan LH, Abbott MA, Comi A, Cohen JS, Alhaddad B, Meitinger T, Lenz D, Ziegler A, Kotzaeridou U, Brunet T, Chassevent A, Smith-Hicks C, Ekstein J, Weiden T, Hahn A, Zharkinbekova N, Turnpenny P, Tucci A, Yelton M, Horvath R, Gungor S, Hiz S, Oktay Y, Lochmuller H, Zollino M, Morleo M, Marangi G, Nigro V, Torella A, Pinelli M, Amenta S, Husain RA, Grossmann B, Rapp M, Steen C, Marquardt I, Grimmel M, Grasshoff U, Korenke GC, Owczarek-Lipska M, Neidhardt J, Radio FC, Mancini C, Claps Sepulveda DJ, McWalter K, Begtrup A, Crunk A, Guillen Sacoto MJ, Person R, Schnur RE, Mancardi MM, Kreuder F, Striano P, Zara F, Chung WK, Marks WA, van Eyk CL, Webber DL, Corbett MA, Harper K, Berry JG, MacLennan AH, Gecz J, Tartaglia M, Salpietro V, Christodoulou J, Kaslin J, Padilla-Lopez S, Bilguvar K, Munchau A, Ahmed ZM, Hufnagel RB, Fahey MC, Maroofian R, Houlden H, Sticht H, Mane SM, Rad A, Vona B, Jin SC, Haack TB, Makowski C, Hirsch Y, Riazuddin S, Kruer MC. 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. PMID: 34626583; PMCID: PMC8546233.
      Citations: 9     Fields:    Translation:HumansAnimals
    55. Liu J, Shen C, Aguilera N, Cukras C, Hufnagel RB, Zein WM, Liu T, Tam J. Active Cell Appearance Model Induced Generative Adversarial Networks for Annotation-Efficient Cell Segmentation and Identification on Adaptive Optics Retinal Images. IEEE Trans Med Imaging. 2021 10; 40(10):2820-2831. PMID: 33507868; PMCID: PMC8548993.
      Citations: 3     Fields:    
    56. Lal T, Yu ZX, Guan B, Bender C, Chan CC, Cukras CA, Hufnagel RB. Clinical and Histopathologic Correlates of Asymmetric Retinitis Pigmentosa. JAMA Ophthalmol. 2021 Sep 01; 139(9):1029-1032. PMID: 34351381; PMCID: PMC8343521.
      Citations:    Fields:    Translation:Humans
    57. Guan B, Frank KM, Maldonado JO, Beach M, Pelayo E, Warner BM, Hufnagel RB. Sensitive extraction-free SARS-CoV-2 RNA virus detection using a chelating resin. iScience. 2021 09 24; 24(9):102960. PMID: 34396082; PMCID: PMC8349732.
      Citations: 9     
    58. Iannaccone A, Brewer CC, Cheng P, Duncan JL, Maguire MG, Audo I, Ayala AR, Bernstein PS, Bidelman GM, Cheetham JK, Doty RL, Durham TA, Hufnagel RB, Myers MH, Stingl K, Zein WM, Foundation Fighting Blindness Consortium Investigator Group. 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. PMID: 34331386; PMCID: PMC8717864.
      Citations: 5     Fields:    Translation:Humans
    59. 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; PMCID: PMC8254011.
      Citations: 8     Fields:    Translation:Humans
    60. Schnur RE, Yousaf S, Liu J, Chung WK, Rhodes L, Marble M, Zambrano RM, Sobreira N, Jayakar P, Pierpont ME, Schultz MJ, Pichurin PN, Olson RJ, Graham GE, Osmond M, Contreras-Garc?a GA, Campo-Neira KA, Pe?aloza-Mantilla CA, Flage M, Kuppa S, Navarro K, Sacoto MJG, Wentzensen IM, Scarano MI, Juusola J, Prada CE, Hufnagel RB. UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly. Genet Med. 2021 09; 23(9):1624-1635. PMID: 34040189; PMCID: PMC8463496.
      Citations: 4     Fields:    Translation:HumansAnimals
    61. Pfister TA, Zein WM, Cukras CA, Sen HN, Maldonado RS, Huryn LA, Hufnagel RB. Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy. Invest Ophthalmol Vis Sci. 2021 05 03; 62(6):22. PMID: 34015078; PMCID: PMC8142704.
      Citations: 6     Fields:    Translation:Humans
    62. Daich Varela M, Hufnagel RB, Guan B, Blain D, Sapp JC, Gropman AL, Alur R, Johnston JJ, Biesecker LG, Brooks BP. Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism. Ophthalmic Genet. 2021 06; 42(3):320-325. PMID: 33719903; PMCID: PMC8154737.
      Citations:    Fields:    Translation:Humans
    63. Li J, Liu T, Flynn OJ, Turriff A, Liu Z, Ullah E, Liu J, Dubra A, Johnson MA, Brooks BP, Hufnagel RB, Hammer DX, Huryn LA, Jeffrey BG, Tam J. Persistent Dark Cones in Oligocone Trichromacy Revealed by Multimodal Adaptive Optics Ophthalmoscopy. Front Aging Neurosci. 2021; 13:629214. PMID: 33767618; PMCID: PMC7985087.
      Citations: 8     
    64. Guan B, Frank KM, Maldonado JO, Beach M, Pelayo E, Warner BM, Hufnagel RB. Sensitive extraction-free SARS-CoV-2 RNA virus detection using a novel RNA preparation method. medRxiv. 2021 Feb 01. PMID: 33532808; PMCID: PMC7852279.
      Citations:    
    65. Prasov L, Bohnsack BL, El Husny AS, Tsoi LC, Guan B, Kahlenberg JM, Almeida E, Wang H, Cowen EW, De Jesus AA, Jani P, Billi AC, Moroi SE, Wasikowski R, Almeida I, Almeida LN, Kok F, Garnai SJ, Mian SI, Chen MY, Warner BM, Ferreira CR, Goldbach-Mansky R, Hur S, Brooks BP, Richards JE, Hufnagel RB, Gudjonsson JE. DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation. J Med Genet. 2022 03; 59(3):294-304. PMID: 33495304; PMCID: PMC8310534.
      Citations: 11     Fields:    Translation:Humans
    66. Schraw JM, Benjamin RH, Scott DA, Brooks BP, Hufnagel RB, McLean SD, Northrup H, Langlois PH, Canfield MA, Scheuerle AE, Schaaf CP, Ray JW, Chen H, Swartz MD, Mitchell LE, Agopian AJ, Lupo PJ. A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia. Ophthalmic Epidemiol. 2021 10; 28(5):428-435. PMID: 33345678; PMCID: PMC8214631.
      Citations: 4     Fields:    Translation:Humans
    67. Salomone J, Qin S, Fufa TD, Cain B, Farrow E, Guan B, Hufnagel RB, Nakafuku M, Lim HW, Campbell K, Gebelein B. Conserved Gsx2/Ind homeodomain monomer versus homodimer DNA binding defines regulatory outcomes in flies and mice. Genes Dev. 2021 01 01; 35(1-2):157-174. PMID: 33334823; PMCID: PMC7778271.
      Citations: 13     Fields:    Translation:AnimalsCells
    68. Chertkof J, Hufnagel RB, Blain D, Gropman AL, Brooks BP. Response to Finsterer's "Exclude hereditary and acquired differential disorders before attributing retinoschisis to Kears-Sayre syndrome". Ophthalmic Genet. 2021 02; 42(1):100. PMID: 33233984; PMCID: PMC8127728.
      Citations:    Fields:    Translation:Humans
    69. Mena R, Mendoza E, Gomez Pe?a M, Valencia CA, Ullah E, Hufnagel RB, Prada CE. 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. PMID: 33219631; PMCID: PMC8830380.
      Citations: 4     Fields:    Translation:Humans
    70. Prasov L, Guan B, Ullah E, Archer SM, Ayres BM, Besirli CG, Wiinikka-Buesser L, Comer GM, Del Monte MA, Elner SG, Garnai SJ, Huryn LA, Johnson K, Kamat SS, Lieu P, Mian SI, Rygiel CA, Serpen JY, Pawar HS, Brooks BP, Moroi SE, Richards JE, Hufnagel RB. Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort. Sci Rep. 2020 11 17; 10(1):19986. PMID: 33203948; PMCID: PMC7672112.
      Citations: 8     Fields:    Translation:Humans
    71. Ellingford JM, Hufnagel RB, Arno G. Phenotype and Genotype Correlations in Inherited Retinal Diseases: Population-Guided Variant Interpretation, Variable Expressivity and Incomplete Penetrance. Genes (Basel). 2020 10 29; 11(11). PMID: 33137882; PMCID: PMC7692259.
      Citations: 4     Fields:    Translation:Humans
    72. Daich Varela M, Ullah E, Yousaf S, Brooks BP, Hufnagel RB, Huryn LA. PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults. Invest Ophthalmol Vis Sci. 2020 10 01; 61(12):1. PMID: 33001157; PMCID: PMC7545085.
      Citations: 5     Fields:    Translation:HumansCells
    73. Walter MA, Rezaie T, Hufnagel RB, Arno G. Ocular genetics in the genomics age. Am J Med Genet C Semin Med Genet. 2020 09; 184(3):860-868. PMID: 32896097; PMCID: PMC8170588.
      Citations: 1     Fields:    Translation:Humans
    74. Goetz KE, Reeves MJ, Gagadam S, Blain D, Bender C, Lwin C, Naik A, Tumminia SJ, Hufnagel RB. 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. PMID: 32893963; PMCID: PMC8162059.
      Citations: 14     Fields:    Translation:Humans
    75. Miraldi Utz V, Brightman DS, Sandoval MA, Hufnagel RB, Saal HM. 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. PMID: 32888375; PMCID: PMC8808370.
      Citations: 4     Fields:    Translation:Humans
    76. Daich Varela M, Jani P, Zein WM, D'Souza P, Wolfe L, Chisholm J, Zalewski C, Adams D, Warner BM, Huryn LA, Hufnagel RB. 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. PMID: 32866347; PMCID: PMC8117942.
      Citations: 7     Fields:    Translation:Humans
    77. Hufnagel RB, Walter MA, Arno G. 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. PMID: 32864823; PMCID: PMC8117941.
      Citations:    Fields:    Translation:Humans
    78. Daich Varela M, Moya R, Schlottmann PG, Hufnagel RB, Arberas C, Fern?ndez FM, Inga ME, Lores J, Pachajoa H, Prada CE, Sallum JMF. Ophthalmic genetics in South America. Am J Med Genet C Semin Med Genet. 2020 09; 184(3):753-761. PMID: 32856789; PMCID: PMC8808369.
      Citations: 2     Fields:    Translation:Humans
    79. Chertkof J, Hufnagel RB, Blain D, Gropman AL, Brooks BP. Retinoschisis associated with Kearns-Sayre syndrome. Ophthalmic Genet. 2020 10; 41(5):497-500. PMID: 32787478; PMCID: PMC8127726.
      Citations: 4     Fields:    Translation:Humans
    80. Velasco HM, Ullah E, Martin AM, Hufnagel RB, Prada CE. Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis. Am J Med Genet A. 2020 10; 182(10):2214-2221. PMID: 32783359; PMCID: PMC8170587.
      Citations:    Fields:    Translation:Humans
    81. Schiff ER, Daich Varela M, Robson AG, Pierpoint K, Ba-Abbad R, Nutan S, Zein WM, Ullah E, Huryn LA, Tuupanen S, Mahroo OA, Michaelides M, Burke D, Harvey K, Arno G, Hufnagel RB, Webster AR. 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. PMID: 32770643; PMCID: PMC8125330.
      Citations: 11     Fields:    Translation:HumansCells
    82. Reeves MJ, Goetz KE, Guan B, Ullah E, Blain D, Zein WM, Tumminia SJ, Hufnagel RB. Genotype-phenotype associations in a large PRPH2-related retinopathy cohort. Hum Mutat. 2020 09; 41(9):1528-1539. PMID: 32531846; PMCID: PMC7484419.
      Citations: 17     Fields:    Translation:Humans
    83. Duncan JL, Liang W, Maguire MG, Audo I, Ayala AR, Birch DG, Carroll J, Cheetham JK, Esposti SD, Durham TA, Erker L, Farsiu S, Ferris FL, Heon E, Hufnagel RB, Iannaccone A, Jaffe GJ, Kay CN, Michaelides M, Pennesi ME, Sahel JA, Foundation Fighting Blindness Consortium Investigator Group. 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. PMID: 32446738; PMCID: PMC8596302.
      Citations: 19     Fields:    Translation:Humans
    84. Daich Varela M, Huryn LA, Hufnagel RB, Zein WM, Blain D, Brooks BP. Ocular and Systemic Findings in Adults with Uveal Coloboma. Ophthalmology. 2020 12; 127(12):1772-1774. PMID: 32434002; PMCID: PMC7669665.
      Citations: 5     Fields:    Translation:Humans
    85. Nolen RM, Hufnagel RB, Friedman TB, Turriff AE, Brewer CC, Zalewski CK, King KA, Wafa TT, Griffith AJ, Brooks BP, Zein WM. Atypical and ultra-rare Usher syndrome: a review. Ophthalmic Genet. 2020 10; 41(5):401-412. PMID: 32372680; PMCID: PMC8018527.
      Citations: 15     Fields:    Translation:HumansAnimals
    86. Richardson RJ, Fink JK, Glynn P, Hufnagel RB, Makhaeva GF, Wijeyesakere SJ. Neuropathy target esterase (NTE/PNPLA6) and organophosphorus compound-induced delayed neurotoxicity (OPIDN). Adv Neurotoxicol. 2020; 4:1-78. PMID: 32518884; PMCID: PMC7271139.
      Citations: 16     
    87. Prasov L, Ullah E, Turriff AE, Warner BM, Conley J, Mark PR, Hufnagel RB, Huryn LA. 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. PMID: 32022389; PMCID: PMC8041260.
      Citations: 6     Fields:    Translation:Humans
    88. Kalaskar VK, Alur RP, Li LK, Thomas JW, Sergeev YV, Blain D, Hufnagel RB, Cogliati T, Brooks BP. 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. PMID: 31816153; PMCID: PMC7027867.
      Citations: 9     Fields:    Translation:HumansAnimalsCells
    89. Sheikh SA, Sisk RA, Schiavon CR, Waryah YM, Usmani MA, Steel DH, Sayer JA, Narsani AK, Hufnagel RB, Riazuddin S, Kahn RA, Waryah AM, Ahmed ZM. Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy. Invest Ophthalmol Vis Sci. 2019 11 01; 60(14):4811-4819. PMID: 31743939; PMCID: PMC6944245.
      Citations: 10     Fields:    Translation:HumansAnimalsCells
    90. Weisschuh N, Sturm M, Baumann B, Audo I, Ayuso C, Bocquet B, Branham K, Brooks BP, Catal?-Mora J, Giorda R, Heckenlively JR, Hufnagel RB, Jacobson SG, Kellner U, Kitsiou-Tzeli S, Matet A, Martorell Sampol L, Meunier I, Rudolph G, Sharon D, Stingl K, Streubel B, Vars?nyi B, Wissinger B, Kohl S. Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation. Hum Mutat. 2020 01; 41(1):255-264. PMID: 31544997; PMCID: PMC8182131.
      Citations: 20     Fields:    Translation:HumansCells
    91. Guo H, Li Y, Shen L, Wang T, Jia X, Liu L, Xu T, Ou M, Hoekzema K, Wu H, Gillentine MA, Liu C, Ni H, Peng P, Zhao R, Zhang Y, Phornphutkul C, Stegmann APA, Prada CE, Hopkin RJ, Shieh JT, McWalter K, Monaghan KG, van Hasselt PM, van Gassen K, Bai T, Long M, Han L, Quan Y, Chen M, Zhang Y, Li K, Zhang Q, Tan J, Zhu T, Liu Y, Pang N, Peng J, Scott DA, Lalani SR, Azamian M, Mancini GMS, Adams DJ, Kvarnung M, Lindstrand A, Nordgren A, Pevsner J, Osei-Owusu IA, Romano C, Calabrese G, Galesi O, Gecz J, Haan E, Ranells J, Racobaldo M, Nordenskjold M, Madan-Khetarpal S, Sebastian J, Ball S, Zou X, Zhao J, Hu Z, Xia F, Liu P, Rosenfeld JA, de Vries BBA, Bernier RA, Xu ZD, Li H, Xie W, Hufnagel RB, Eichler EE, Xia K. Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission. Sci Adv. 2019 09; 5(9):eaax2166. PMID: 31579823; PMCID: PMC6760934.
      Citations: 20     Fields:    Translation:HumansAnimalsCells
    92. Russell BE, Rigueur D, Weaver KN, Sund K, Basil JS, Hufnagel RB, Prows CA, Oestreich A, Al-Gazali L, Hopkin RJ, Saal HM, Lyons K, Dauber A. Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features. Mol Genet Genomic Med. 2019 11; 7(11):e969. PMID: 31493347; PMCID: PMC6825850.
      Citations: 4     Fields:    Translation:Humans
    93. Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS. Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. Am J Hum Genet. 2019 10 03; 105(4):689-705. PMID: 31495489; PMCID: PMC6817560.
      Citations: 28     Fields:    Translation:HumansCells
    94. Garnai SJ, Brinkmeier ML, Emery B, Aleman TS, Pyle LC, Veleva-Rotse B, Sisk RA, Rozsa FW, Ozel AB, Li JZ, Moroi SE, Archer SM, Lin CM, Sheskey S, Wiinikka-Buesser L, Eadie J, Urquhart JE, Black GCM, Othman MI, Boehnke M, Sullivan SA, Skuta GL, Pawar HS, Katz AE, Huryn LA, Hufnagel RB, Genomic Ascertainment Cohort, Camper SA, Richards JE, Prasov L. 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. PMID: 31048900; PMCID: PMC6527243.
      Citations: 29     Fields:    Translation:HumansAnimalsCells
    95. Liegel RP, Finnerty E, Blizzard L, DiStasio A, Hufnagel RB, Saal HM, Sund KL, Prows CA, Stottmann RW. Using human sequencing to guide craniofacial research. Genesis. 2019 01; 57(1):e23259. PMID: 30375152; PMCID: PMC8796141.
      Citations: 2     Fields:    Translation:HumansAnimals
    96. Huryn LA, Turriff A, Harney LA, Carr AG, Chevez-Barrios P, Gombos DS, Ram R, Hufnagel RB, Hill DA, Zein WM, Schultz KAP, Bishop R, Stewart DR. DICER1 Syndrome: Characterization of the Ocular Phenotype in a Family-Based Cohort Study. Ophthalmology. 2019 02; 126(2):296-304. PMID: 30339877; PMCID: PMC6348055.
      Citations: 14     Fields:    Translation:Humans
    97. Bryan JM, Fufa TD, Bharti K, Brooks BP, Hufnagel RB, McGaughey DM. 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. PMID: 30239781; PMCID: PMC6140774.
      Citations: 29     Fields:    Translation:HumansAnimals
    98. Prasov L, Armenti ST, Utz VM, Richards JE, Hufnagel RB. Genetics in Ophthalmology. J Ophthalmol. 2018; 2018:4608946. PMID: 30245871; PMCID: PMC6136519.
      Citations:    
    99. Sisk RA, Hufnagel RB, Laham A, Wohler ES, Sobreira N, Ahmed ZM. Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic Analysis. J Ophthalmol. 2018; 2018:2984934. PMID: 30116628; PMCID: PMC6079493.
      Citations: 3     
    100. Arroyo MS, Fu TT, Hufnagel RB. Case 1: A term infant with apnea and stiffening. Neoreviews. 2017 Nov; 18(11):e665-e667. PMID: 29200978; PMCID: PMC5708563.
      Citations:    Fields:    
    101. Li Z, Peng Y, Hufnagel RB, Hu YC, Zhao C, Queme LF, Khuchua Z, Driver AM, Dong F, Lu QR, Lindquist DM, Jankowski MP, Stottmann RW, Kao WWY, Huang T. Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice. Hum Mol Genet. 2017 10 01; 26(19):3776-3791. PMID: 28934388; PMCID: PMC6074941.
      Citations: 26     Fields:    Translation:HumansAnimalsCells
    102. Weiss K, Kruszka P, Guillen Sacoto MJ, Addissie YA, Hadley DW, Hadsall CK, Stokes B, Hu P, Roessler E, Solomon B, Wiggs E, Thurm A, Hufnagel RB, Zein WM, Hahn JS, Stashinko E, Levey E, Baldwin D, Clegg NJ, Delgado MR, Muenke M. In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics. Genet Med. 2018 01; 20(1):14-23. PMID: 28640243; PMCID: PMC5763157.
      Citations: 5     Fields:    Translation:Humans
    103. Santoro SL, Atoum D, Hufnagel RB, Motley WW. Surgical, medical and developmental outcomes in patients with Down syndrome and cataracts. SAGE Open Med. 2017; 5:2050312117715583. PMID: 28680631; PMCID: PMC5480628.
      Citations: 3     
    104. Dev Borman A, Rachitskaya A, Suzani M, Sisk RA, Ahmed ZM, Holder GE, Cipriani V, Arno G, Webster AR, Hufnagel RB, Berrocal A, Moore AT. Benign Yellow Dot Maculopathy: A New Macular Phenotype. Ophthalmology. 2017 07; 124(7):1004-1013. PMID: 28366503; PMCID: PMC5503697.
      Citations: 3     Fields:    Translation:Humans
    105. Bryan MM, Tolman NJ, Simon KL, Huizing M, Hufnagel RB, Brooks BP, Speransky V, Mullikin JC, Gahl WA, Malicdan MCV, Gochuico BR. 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. PMID: 28259707; PMCID: PMC5395203.
      Citations: 13     Fields:    Translation:Humans
    106. George A, Zand DJ, Hufnagel RB, Sharma R, Sergeev YV, Legare JM, Rice GM, Scott Schwoerer JA, Rius M, Tetri L, Gamm DM, Bharti K, Brooks BP. Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. Am J Hum Genet. 2016 Dec 01; 99(6):1388-1394. PMID: 27889061; PMCID: PMC5142105.
      Citations: 42     Fields:    Translation:HumansAnimals
    107. Gelineau-Morel R, Lukacs M, Weaver KN, Hufnagel RB, Gilbert DL, Stottmann RW. Congenital Cataracts and Gut Dysmotility in a DYNC1H1 Dyneinopathy Patient. Genes (Basel). 2016 Oct 14; 7(10). PMID: 27754416; PMCID: PMC5083924.
      Citations: 8     Fields:    
    108. Patterson EJ, Wilk M, Langlo CS, Kasilian M, Ring M, Hufnagel RB, Dubis AM, Tee JJ, Kalitzeos A, Gardner JC, Ahmed ZM, Sisk RA, Larsen M, Sjoberg S, Connor TB, Dubra A, Neitz J, Hardcastle AJ, Neitz M, Michaelides M, Carroll J. 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. PMID: 27447086; PMCID: PMC4968428.
      Citations: 24     Fields:    Translation:HumansCells
    109. Twigg SRF, Hufnagel RB, Miller KA, Zhou Y, McGowan SJ, Taylor J, Craft J, Taylor JC, Santoro SL, Huang T, Hopkin RJ, Brady AF, Clayton-Smith J, Clericuzio CL, Grange DK, Groesser L, Hafner C, Horn D, Temple IK, Dobyns WB, Curry CJ, Jones MC, Wilkie AOM. 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. PMID: 27236920; PMCID: PMC4908219.
      Citations: 42     Fields:    Translation:HumansCells
    110. Fong KS, Hufnagel RB, Khadka VS, Corley MJ, Maunakea AK, Fogelgren B, Ahmed ZM, Lozanoff S. A mutation in the tuft mouse disrupts TET1 activity and alters the expression of genes that are crucial for neural tube closure. Dis Model Mech. 2016 05 01; 9(5):585-96. PMID: 26989192; PMCID: PMC4892663.
      Citations: 9     Fields:    Translation:AnimalsCells
    111. Waryah AM, Shahzad M, Shaikh H, Sheikh SA, Channa NA, Hufnagel RB, Makhdoom A, Riazuddin S, Ahmed ZM. A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred. Clin Genet. 2016 07; 90(1):90-5. PMID: 26572954; PMCID: PMC4870159.
      Citations: 9     Fields:    Translation:HumansCells
    112. O'Rawe JA, Wu Y, D?rfel MJ, Rope AF, Au PY, Parboosingh JS, Moon S, Kousi M, Kosma K, Smith CS, Tzetis M, Schuette JL, Hufnagel RB, Prada CE, Martinez F, Orellana C, Crain J, Caro-Llopis A, Oltra S, Monfort S, Jim?nez-Barr?n LT, Swensen J, Ellingwood S, Smith R, Fang H, Ospina S, Stegmann S, Den Hollander N, Mittelman D, Highnam G, Robison R, Yang E, Faivre L, Roubertie A, Rivi?re JB, Monaghan KG, Wang K, Davis EE, Katsanis N, Kalscheuer VM, Wang EH, Metcalfe K, Kleefstra T, Innes AM, Kitsiou-Tzeli S, Rosello M, Keegan CE, Lyon GJ. TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. Am J Hum Genet. 2015 Dec 03; 97(6):922-32. PMID: 26637982; PMCID: PMC4678794.
      Citations: 60     Fields:    Translation:HumansAnimalsCells
    113. Hufnagel RB, Zimmerman SL, Krueger LA, Bender PL, Ahmed ZM, Saal HM. A new frontonasal dysplasia syndrome associated with deletion of the SIX2 gene. Am J Med Genet A. 2016 Feb; 170A(2):487-491. PMID: 26581443; PMCID: PMC8108007.
      Citations: 18     Fields:    Translation:HumansAnimals
    114. Wasserman H, Hufnagel RB, Miraldi Utz V, Zhang K, Valencia CA, Leslie ND, Crimmins NA. 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. PMID: 26530398; PMCID: PMC4854816.
      Citations: 10     Fields:    Translation:Humans
    115. Mirzaa GM, Conti V, Timms AE, Smyser CD, Ahmed S, Carter M, Barnett S, Hufnagel RB, Goldstein A, Narumi-Kishimoto Y, Olds C, Collins S, Johnston K, Deleuze JF, Nitschk? P, Friend K, Harris C, Goetsch A, Martin B, Boyle EA, Parrini E, Mei D, Tattini L, Slavotinek A, Blair E, Barnett C, Shendure J, Chelly J, Dobyns WB, Guerrini R. 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. PMID: 26520804; PMCID: PMC4672724.
      Citations: 33     Fields:    Translation:Humans
    116. Yousaf R, Meng Q, Hufnagel RB, Xia Y, Puligilla C, Ahmed ZM, Riazuddin S. MAP3K1 function is essential for cytoarchitecture of the mouse organ of Corti and survival of auditory hair cells. Dis Model Mech. 2015 Dec; 8(12):1543-53. PMID: 26496772; PMCID: PMC4728323.
      Citations: 7     Fields:    Translation:AnimalsCells
    117. Prada CE, Hufnagel RB, Hummel TR, Lovell AM, Hopkin RJ, Saal HM, Schorry EK. 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. PMID: 26233602; PMCID: PMC9100836.
      Citations: 35     Fields:    Translation:Humans
    118. Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Sch?le R, Caporali L, La Morgia C, Maresca A, Liguori R, Lodi R, Ahmed ZM, Sund KL, Wang X, Krueger LA, Peng Y, Prada CE, Prows CA, Schorry EK, Antonellis A, Zimmerman HH, Abdul-Rahman OA, Yang Y, Downes SM, Prince J, Fontanesi F, Barrientos A, N?meth AH, Carelli V, Huang T, Zuchner S, Dallman JE. Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. Nat Genet. 2015 Aug; 47(8):926-32. PMID: 26168012; PMCID: PMC4520737.
      Citations: 99     Fields:    Translation:HumansAnimalsCells
    119. Plancher JM, Hufnagel RB, Vagal A, Peariso K, Saal HM, Broderick JP. Case of Small Vessel Disease Associated with COL4A1 Mutations following Trauma. Case Rep Neurol. 2015 May-Aug; 7(2):142-7. PMID: 26120313; PMCID: PMC4478326.
      Citations: 8     
    120. Weaver KN, Watt KE, Hufnagel RB, Navajas Acedo J, Linscott LL, Sund KL, Bender PL, K?nig R, Lourenco CM, Hehr U, Hopkin RJ, Lohmann DR, Trainor PA, Wieczorek D, Saal HM. 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. PMID: 25913037; PMCID: PMC4570288.
      Citations: 40     Fields:    Translation:HumansAnimalsCells
    121. McLaughlin BM, Hufnagel RB, Saal HM. Small bowel malrotation in distal 15q duplication: evidence for a rare association. Clin Dysmorphol. 2015 Apr; 24(2):65-7. PMID: 25415058; PMCID: PMC9100852.
      Citations: 1     Fields:    Translation:HumansCells
    122. Gordon CT, Weaver KN, Zechi-Ceide RM, Madsen EC, Tavares AL, Oufadem M, Kurihara Y, Adameyko I, Picard A, Breton S, Pierrot S, Biosse-Duplan M, Voisin N, Masson C, Bole-Feysot C, Nitschk? P, Delrue MA, Lacombe D, Guion-Almeida ML, Moura PP, Garib DG, Munnich A, Ernfors P, Hufnagel RB, Hopkin RJ, Kurihara H, Saal HM, Weaver DD, Katsanis N, Lyonnet S, Golzio C, Clouthier DE, Amiel J. Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia. Am J Hum Genet. 2015 Apr 02; 96(4):519-31. PMID: 25772936; PMCID: PMC4385188.
      Citations: 25     Fields:    Translation:HumansAnimalsCells
    123. Hufnagel RB, Arno G, Hein ND, Hersheson J, Prasad M, Anderson Y, Krueger LA, Gregory LC, Stoetzel C, Jaworek TJ, Hull S, Li A, Plagnol V, Willen CM, Morgan TM, Prows CA, Hegde RS, Riazuddin S, Grabowski GA, Richardson RJ, Dieterich K, Huang T, Revesz T, Martinez-Barbera JP, Sisk RA, Jefferies C, Houlden H, Dattani MT, Fink JK, Dollfus H, Moore AT, Ahmed ZM. Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. J Med Genet. 2015 Feb; 52(2):85-94. PMID: 25480986; PMCID: PMC8108008.
      Citations: 49     Fields:    Translation:HumansAnimalsCells
    124. Hufnagel SB, Weaver KN, Hufnagel RB, Bader PI, Schorry EK, Hopkin RJ. A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia. Am J Med Genet A. 2014 Oct; 164A(10):2607-12. PMID: 25091507; PMCID: PMC9185704.
      Citations: 11     Fields:    Translation:Humans
    125. Sisk RA, Hufnagel RB, Bandi S, Polzin WJ, Ahmed ZM. Planned preterm delivery and treatment of retinal neovascularization in Norrie disease. Ophthalmology. 2014 Jun; 121(6):1312-3. PMID: 24529712; PMCID: PMC9126609.
      Citations: 7     Fields:    Translation:Humans
    126. Cideciyan AV, Hufnagel RB, Carroll J, Sumaroka A, Luo X, Schwartz SB, Dubra A, Land M, Michaelides M, Gardner JC, Hardcastle AJ, Moore AT, Sisk RA, Ahmed ZM, Kohl S, Wissinger B, Jacobson SG. Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy. Hum Gene Ther. 2013 Dec; 24(12):993-1006. PMID: 24067079; PMCID: PMC3868405.
      Citations: 73     Fields:    Translation:HumansAnimalsCells
    127. Hufnagel RB, Riesenberg AN, Quinn M, Brzezinski JA, Glaser T, Brown NL. Heterochronic misexpression of Ascl1 in the Atoh7 retinal cell lineage blocks cell cycle exit. Mol Cell Neurosci. 2013 May; 54:108-20. PMID: 23481413; PMCID: PMC3622171.
      Citations: 11     Fields:    Translation:AnimalsCells
    128. Hufnagel RB, Ahmed ZM, Corr?a ZM, Sisk RA. Gene therapy for Leber congenital amaurosis: advances and future directions. Graefes Arch Clin Exp Ophthalmol. 2012 Aug; 250(8):1117-28. PMID: 22644094; PMCID: PMC8108009.
      Citations: 19     Fields:    Translation:HumansAnimalsCells
    129. Hufnagel RB, Le TT, Riesenberg AL, Brown NL. Neurog2 controls the leading edge of neurogenesis in the mammalian retina. Dev Biol. 2010 Apr 15; 340(2):490-503. PMID: 20144606; PMCID: PMC2854206.
      Citations: 59     Fields:    Translation:Animals
    130. Saul SM, Brzezinski JA, Altschuler RA, Shore SE, Rudolph DD, Kabara LL, Halsey KE, Hufnagel RB, Zhou J, Dolan DF, Glaser T. Math5 expression and function in the central auditory system. Mol Cell Neurosci. 2008 Jan; 37(1):153-69. PMID: 17977745; PMCID: PMC2266824.
      Citations: 42     Fields:    Translation:AnimalsCells
    131. Hufnagel RB, Riesenberg AN, Saul SM, Brown NL. Conserved regulation of Math5 and Math1 revealed by Math5-GFP transgenes. Mol Cell Neurosci. 2007 Dec; 36(4):435-48. PMID: 17900924; PMCID: PMC2095782.
      Citations: 22     Fields:    Translation:AnimalsCells
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