Robert B Hufnagel
Overview
Explore the profile of Robert B Hufnagel including associated specialties, affiliations and a list of published articles.
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129
Citations
1432
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Recent Articles
1.
Duncan J, Liang W, Maguire M, Audo I, Ayala A, Birch D, et al.
Am J Ophthalmol
. 2025 Mar;
PMID: 40057408
No abstract available.
2.
Branham K, Samarakoon L, Audo I, Ayala A, Cheetham J, Daiger S, et al.
Invest Ophthalmol Vis Sci
. 2025 Feb;
66(2):12.
PMID: 39908130
Purpose: The Foundation Fighting Blindness (FFB) Consortium is a collaboration of 41 international clinical centers that manage patients affected with inherited retinal diseases (IRDs). The annual Consortium gene poll was...
3.
Yaylacioglu Tuncay F, Reeves M, Yousaf S, Ullah E, Guan B, Goetz K, et al.
Invest Ophthalmol Vis Sci
. 2025 Feb;
66(2):9.
PMID: 39903177
Purpose: To report the variants and genotype-phenotype correlations in patients with familial exudative vitreoretinopathy (FEVR) included in the eyeGENE database. Methods: A retrospective study was conducted in a cohort of...
4.
Neelathi U, Ullah E, George A, Maftei M, Boobalan E, Sanchez-Mendoza D, et al.
Res Sq
. 2024 Nov;
PMID: 39606449
Colobomatous microphthalmia is a potentially blinding congenital ocular malformation that can present either in isolation or together with other syndromic features. Despite a strong genetic component to disease, many cases...
5.
Neelathi U, Ullah E, George A, Maftei M, Boobalan E, Sanchez-Mendoza D, et al.
medRxiv
. 2024 Nov;
PMID: 39606382
Colobomatous microphthalmia is a potentially blinding congenital ocular malformation that can present either in isolation or together with other syndromic features. Despite a strong genetic component to disease, many cases...
6.
Mitchell D, Chambers T, Agopian A, Benjamin R, Shumate C, Slavotinek A, et al.
Birth Defects Res
. 2024 Nov;
116(11):e2413.
PMID: 39530497
Background: Coloboma is a rare congenital malformation in which part of the tissue that makes up the eye is missing and may cause visual impairment or blindness. Little is known...
7.
Abuzaitoun R, Branham K, Lacy G, Hufnagel R, Kumar M, Koskenvuo J, et al.
JAMA Ophthalmol
. 2024 Nov;
PMID: 39509105
Importance: The association of race and detection of pathogenic variants using wide-panel genetic testing for inherited retinal diseases (IRD), to our knowledge, has not been studied previously. Objective: To investigate...
8.
Ullah E, Lin S, Lu J, Bender C, Webster A, Malka S, et al.
JAMA Ophthalmol
. 2024 Sep;
142(11):1081-1086.
PMID: 39325468
Importance: Inherited retinal dystrophies (IRDs) present a challenge in clinical diagnostics due to their pronounced genetic heterogeneity. Despite advances in next-generation sequencing (NGS) technologies, a substantial portion of the genetic...
9.
Venkatesh A, McKenty T, Ali S, Sonntag D, Ravipaty S, Cui Y, et al.
Nucleic Acid Ther
. 2024 Sep;
34(5):221-233.
PMID: 39264859
Autosomal dominant optic atrophy (ADOA) is an inherited optic neuropathy most frequently associated with mutations. Most variants result in haploinsufficiency, and patient cells express roughly half of the normal levels...
10.
Owete A, Ionin R, Huryn L, Cukras C, Blain D, Agather A, et al.
Transl Vis Sci Technol
. 2024 Sep;
13(9):4.
PMID: 39226063
Purpose: Hereditary eye diseases (HEDs) are individually rare but affect millions globally. The era of molecular genetics has ushered major advances in the study of these disorders; however, the inclusivity...