EFEMP1 rare variants cause familial juvenile‐onset open angle glaucoma ERA Collantes, MS Delfin Jr, B Fan, JMR Torregosa, C Siguan‐Bell, ... Human Mutation, 2021 | 29 | 2021 |
Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma H Fu, OM Siggs, LSW Knight, SE Staffieri, JB Ruddle, AE Birsner, ... The Journal of Clinical Investigation 132 (23), 2022 | 10 | 2022 |
Rare protective variants and glaucoma-relevant cell stressors modulate angiopoietin-like 7 expression IF Aboobakar, ERA Collantes, MA Hauser, WD Stamer, JL Wiggs Human Molecular Genetics, ddad083, 2023 | 4 | 2023 |
Looking through the scope: Retinoblastoma in the Philippines MCB Guevarra, MAB Eala, EC Dee, GJV Mercado, ERA Collantes Eye, 1-2, 2022 | 2 | 2022 |
SGMS2 mutation in a large Filipino family with calvarial doughnut lesions with bone fragility and juvenile-onset open angle glaucoma ER Collantes, JF Flores-Anotado, MC Guevarra, A Dumdum, J Futolan, ... Investigative Ophthalmology & Visual Science 63 (7), 4019–A0361-4019–A0361, 2022 | 1 | 2022 |
Thrombospondin-1 p. R1034 missense alleles cause congenital glaucoma with variable expressivity by inducing extracellular protein aggregation H Fu, O Siggs, L Knight, SE Staffieri, JB Ruddle, AE Birsner, ER Collantes, ... Investigative Ophthalmology & Visual Science 63 (7), 805-805, 2022 | 1 | 2022 |
EFEMP1 rare variants cause juvenile-onset open angle glaucoma in families from the Philippines E Collantes, M Delfin, BJ Fan, J Torregosa, C Siguan-Bell, N Florcruz, ... Authorea Preprints, 2021 | 1 | 2021 |
A prospective study of the natural history of MYOC-associated juvenile open-angle glaucoma ER Collantes, B Fan, J Wiggs Investigative Ophthalmology & Visual Science 61 (7), 1254-1254, 2020 | 1 | 2020 |
A novel nonstop MYOC mutation in a Large Filipino Family with Juvenile-Onset Open-Angle Glaucoma ERA Collantes, B Fan, Q Zhang, TM Collantes, A Wan, K Linkroum, Q Liu, ... Investigative Ophthalmology & Visual Science 58 (8), 2128-2128, 2017 | 1 | 2017 |
Rare protective variants and glaucoma-relevant cell stressors modulate ANGPTL7 expression IF Aboobakar, ER Collantes, MA Hauser, DW Stamer, JL Wiggs Investigative Ophthalmology & Visual Science 64 (8), 4353-4353, 2023 | | 2023 |
Genetic analysis of Filipino families with hereditary cataract ER Collantes, JM Torregosa, MC Guevarra, M Sibulo, LP Concepcion, ... Investigative Ophthalmology & Visual Science 64 (8), 1220-1220, 2023 | | 2023 |
EFEMP1 rare variants cause familial juvenile-onset open-angle glaucoma (vol 43, pg 240, 2022) ERA Collantes, MS Delfin, B Fan, JMR Torregosa, C Siguan-Bell, ... HUMAN MUTATION 43 (9), 1343-1343, 2022 | | 2022 |
Two novel mutations in the KCNV2 gene exhibit a variation of Cone Dystrophy with Supernormal Rod Response (CDSRR) in an 8-year old Asia Pacific Islander: A Case Report MAA Naguit, ER Collantes, PY Villa Investigative Ophthalmology & Visual Science 62 (8), 1526-1526, 2021 | | 2021 |
A prospective study of the natural history of MYOC-associated juvenile open-angle glaucoma ER Collantes, F Atienza, B Fan, JL Wiggs Investigative Ophthalmology & Visual Science 62 (8), 1496-1496, 2021 | | 2021 |
Development of a rapid and cost-effective CRISPR-based molecular detection platform for a novel myocilin mutation in rural Philippines. ER Collantes, N Pendse, A Dy, J Gootenberg, O Abudayyeh, B Fan, ... Investigative Ophthalmology & Visual Science 60 (9), 6076-6076, 2019 | | 2019 |
Genetic eye research in the Philippines PR Ching, ERA Collantes, MD Lingao, PE Cabrera, LDP Cubillan Advances in Vision Research, Volume II: Genetic Eye Research in Asia and the …, 2019 | | 2019 |
Diagnostic genetic testing using whole exome sequencing in Filipino families with early-onset glaucoma ER Collantes, B Fan, K Linkroum, JL Wiggs Investigative Ophthalmology & Visual Science 59 (9), 5153-5153, 2018 | | 2018 |