Tomás S. Alemán

Children's Hospital of Philadelphia — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

67h-index14.0kcitations262works10.42yr avg
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Research Topics

Retinal Development and Disorders(172), Retinal Diseases and Treatments(118), Photoreceptor and optogenetics research(39), Glaucoma and retinal disorders(37), Melanoma and MAPK Pathways(23)

Publications262 total

Location and Identity of Photoreceptors Contributing to the Full-Field Stimulus Test (FST)
Investigative Ophthalmology & Visual Science·2025· 1 citedOpen Access
Measuring Rod- and Cone-Photoreceptor–Specific Vision in Inherited Retinal Diseases Using a Commercial Perimeter
Investigative Ophthalmology & Visual Science·2025Open Access
Photoreceptor Disease at Ambiguous Transition Zones in Inherited Retinal Degenerations
Translational Vision Science & Technology·2025Open Access
Recovery of cone-mediated vision in Lebercilin associated retinal ciliopathy after gene therapy: One-year results of a phase I/II trial
Molecular Therapy·2025· 2 citedOpen Access
Leber Congenital Amaurosis and Early-Onset Severe Inherited Retinal Degenerations
2025
Choroidal evaluation of FTLD-Tau and biomarker-determined Alzheimer’s disease
Scientific Reports·2025Open Access
Intrafamilial Variability of IMPG1-Associated Vitelliform Dystrophy
Retinal Cases & Brief Reports·2025
Detailed structural abnormalities associated with a novel <i>VCAN</i> variant in a family with versican vitreoretinopathy
Ophthalmic Genetics·2025
Gene therapy for young children with congenital blindness
The Lancet·2025· 1 cited
Retinal Degeneration Associated With Biallelic <i>RDH12</i> Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients
Investigative Ophthalmology & Visual Science·2024· 6 citedOpen Access
Retinal Sensitivity in Comparison to Cone Density in Choroideremia
Investigative Ophthalmology & Visual Science·2024· 2 citedOpen Access
Safety and efficacy of ATSN-101 in patients with Leber congenital amaurosis caused by biallelic mutations in GUCY2D: a phase 1/2, multicentre, open-label, unilateral dose escalation study
The Lancet·2024· 28 cited
Report From the Second Global Scientific Conference on Clinical Trial Design and Outcome Measures for <i>RDH12</i>-Associated Inherited Retinal Degeneration
Translational Vision Science & Technology·2024· 1 citedOpen Access
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study
British Journal of Ophthalmology·2024· 6 citedOpen Access
Anti-TRPM1 autoantibody-positive unilateral melanoma associated retinopathy (MAR) triggered by immunotherapy recapitulates functional and structural details of TRPM1-associated congenital stationary night blindness
American Journal of Ophthalmology Case Reports·2024· 5 citedOpen Access
Intraretinal hemorrhages and detailed retinal phenotype of three patients with Alagille syndrome
Ophthalmic Genetics·2024· 3 cited
Detailed phenotype and long-term follow-up of <i>RAB28-</i> associated cone-rod dystrophy
Ophthalmic Genetics·2024· 1 cited
Detailed Phenotype Supports Pathogenicity of Hypomorphic Variant in ABCC6-Associated Pattern Dystrophy
Case Reports in Ophthalmology·2024· 2 citedOpen Access
Corrigendum to “Retinal response to light exposure in BEST1-mutant dogs evaluated with ultra-high resolution OCT” [Vis. Res. 218 (2024) 108379]
Vision Research·2024
Gene Editing for <i>CEP290</i> -Associated Retinal Degeneration
New England Journal of Medicine·2024· 149 citedOpen Access
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Frequent Co-authors

Samuel G. Jacobson(44), Artur V. Cideciyan(43), Sharon Schwartz(25), Alexander Sumaroka(22), Edwin M. Stone(20), Alejandro J. Román(19), Elizabeth A. M. Windsor(16), Jean Bennett(14), Albert M. Maguire(13), Geoffrey K. Aguirre(10), William W. Hauswirth(10), Shalesh Kaushal(7), Sanford L. Boye(7), Krzysztof Palczewski(7), Małgorzata Świder(7), Janet D. Steinberg(7), Gregory M. Acland(6), Susan E. Pearce-Kelling(6), Elise Héon(6), Anand Swaroop(6)