Matthew D. Benson | Ehsan Misaghihttps://ehsanmisaghi.com/authors/matthew-d.-benson/Matthew D. BensonHugoBlox Kit (https://hugoblox.com)en-usTue, 01 Jul 2025 00:00:00 +0000A novel splice variant in COL4A1 results in retinal arterial tortuosity and HANAC syndrome in a multi-generational familyhttps://ehsanmisaghi.com/presentations/2025-grc-col4a1/Tue, 01 Jul 2025 00:00:00 +0000https://ehsanmisaghi.com/presentations/2025-grc-col4a1/A novel splice variant in COL4A1 results in retinal arterial tortuosity and HANAC syndrome in a multi-generational familyhttps://ehsanmisaghi.com/presentations/2025-cos-col4a1/Sun, 01 Jun 2025 00:00:00 +0000https://ehsanmisaghi.com/presentations/2025-cos-col4a1/A novel splice variant in COL4A1 results in retinal arterial tortuosity and HANAC syndrome in a multi-generational familyhttps://ehsanmisaghi.com/presentations/2025-eshg-col4a1/Sat, 24 May 2025 00:00:00 +0000https://ehsanmisaghi.com/presentations/2025-eshg-col4a1/Investigating the Role of PIKFYVE in the Retinal Pigment Epitheliumhttps://ehsanmisaghi.com/presentations/2025-arvo-pikfyve/Tue, 06 May 2025 00:00:00 +0000https://ehsanmisaghi.com/presentations/2025-arvo-pikfyve/<p>Conference abstract presented at ARVO (Salt Lake City, UT, USA).</p>Genetic Variants in PIKFYVE: A Review of Ocular Phenotypes.https://ehsanmisaghi.com/publication/misaghi-genetic-variants-pikfyve-2025/Sat, 01 Feb 2025 00:00:00 -0700https://ehsanmisaghi.com/publication/misaghi-genetic-variants-pikfyve-2025/Investigating the Role of PIKFYVE in the Retinal Pigment Epitheliumhttps://ehsanmisaghi.com/presentations/2024-vhrn-pikfyve/Mon, 01 Jul 2024 00:00:00 +0000https://ehsanmisaghi.com/presentations/2024-vhrn-pikfyve/<p>Research presentation delivered at the Vision Health Research Network Summer School.</p>