Laryssa A. Huryn

Single-cell–resolution map of human retinal pigment epithelium helps discover subpopulations with differential disease sensitivity

Davide Ortolan, Ruchi Sharma, A. I. Volkov et al. · Proceedings of the National Academy of Sciences · 2022 · 88 citations · Full text

Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7

Chenchen Niu, Thazah P. Prakash, Aneeza Kim et al. · Science Translational Medicine · 2018 · 82 citations

Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice

Sarah J. Garnai, Michelle L. Brinkmeier, Ben Emery et al. · PLoS Genetics · 2019 · 78 citations · Full text

Ocular Disease, Genetics, Transcriptional Regulation +20

Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome

Christina Torres Kozycki, Shilpa Kodati, Laryssa A. Huryn et al. · Annals of the Rheumatic Diseases · 2022 · 62 citations · Full text

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Sacha Ferdinandusse, Kirsty McWalter, Heleen te Brinke et al. · Genetics in Medicine · 2020 · 49 citations · Full text