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Cold Spring Harbor Molecular Case Studies|February 24, 2018
A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delayGabriel Velez, Alexander G Bassuk, Kellie A Schaefer, et al.
Orphanet Journal of Rare Diseases|August 17, 2018
Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesityKatherine Y Liu, Jesse D Sengillo, Gabriel Velez, et al.
Documenta Ophthalmologica. Advances in Ophthalmology|April 25, 2026
A novel IDS variant associated with an isolated ocular phenotype in Hunter syndromeTsai-Chu Yeh, Gabriel Velez, Soo Hyeon Lee, et al.
Cell Reports|January 23, 2020
Structural Insights into the Unique Activation Mechanisms of a Non-classical Calpain and Its Disease-Causing VariantsGabriel Velez, Young Joo Sun, Saif Khan, et al.
Plos One|July 8, 2017
Correction: Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)Allison J Cox, Benjamin W Darbro, Ronald M Laxer, et al.
American Journal of Ophthalmology|July 25, 2020
Whole-Exome Sequencing of Patients With Posterior Segment UveitisAngela S Li, Gabriel Velez, Benjamin Darbro, et al.
Tropical Medicine and Infectious Disease|October 27, 2023
Multiplex Reverse Transcription Polymerase Chain Reaction Combined with a Microwell Hybridization Assay Screening for Arbovirus and Parasitic Infections in Febrile Patients Living in Endemic Regions of ColombiaPaula Calderon-Ruiz, Gregor Haist, Annina Mascus, et al.
Plos One|March 17, 2017
Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)Allison J Cox, Benjamin W Darbro, Ronald M Laxer, et al.
Ophthalmology Science|May 9, 2022
Proteomic analysis of autoimmune retinopathy implicates NrCAM as a potential biomarkerAhmad Al-Moujahed, Gabriel Velez, Jennifer T Vu, et al.
Ebiomedicine|February 7, 2020
Metabolite therapy guided by liquid biopsy proteomics delays retinal neurodegenerationKatherine J Wert, Gabriel Velez, Vijaya L Kanchustambham, et al.
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