Mark E Pennesi
8PUBLICATIONS
34CO-AUTHORS
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Publications (8)
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|Mar 04, 2026
Assessment of In-Frame Indel Variants in an Unsolved Cohort of Inherited Retinal Diseases Using Machine Learning.David E Rauch, Meng Wang, Muhammad Jafar Hussain Hafiz
|Jan 07, 2025
Phosphoribosyl pyrophosphate synthetase 1 (PRPS1) associated retinal degeneration: an international study.Ogul E Uner, Radwa Elsharawi, Margaret Reynolds
|Aug 14, 2024
Partial rescue of the full-field electroretinogram in patients with RPE65-related retinal dystrophy following gene augmentation therapy with voretigene neparvovec-rzyl.A Amato, W Tschetter, L Everett
|Jul 20, 2022
A possible ocular biomarker for response to hyperornithinemia in gyrate atrophy: the effect of pyridoxine, lysine, and arginine-restricted diet in a patient with advanced disease.Mariana Matioli da Palma, Cristy Ku, Austin D Igelman
|Jul 05, 2021
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.Austin D Igelman, Cristy Ku, Mariana Matioli da Palma
|Feb 29, 2020
Interocular Symmetry of Foveal Cone Topography in Congenital Achromatopsia.Katie M Litts, Michalis Georgiou, Christopher S Langlo
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Frequent Collaborators
3 joint publications
Mariana Matioli da Palma
2 joint publications
Austin D Igelman
2 joint publications
Juliana Maria Ferraz Sallum
2 joint publications
Lesley A Everett
1 joint publications
Huber M Vasconcelos
1 joint publications
Mauricio E Vargas
1 joint publications
Angelos Kalitzeos
1 joint publications
Joseph Carroll
1 joint publications
Jeeyun Ahn
1 joint publications
Ramiro S Maldonado
