Ayse Bilge Ozel

Integrated genomic sequencing reveals mutational landscape of T-cell prolymphocytic leukemia

Mark J. Kiel, Thirunavukkarasu Velusamy, Delphine Rolland et al. · Blood · 2014 · 249 citations · Full text

Mutations in <i>VPS13D</i> lead to a new recessive ataxia with spasticity and mitochondrial defects

Eunju Seong, Ryan Insolera, Marija Dulović et al. · Annals of Neurology · 2018 · 163 citations · Full text

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

Genome-Wide Analysis of Central Corneal Thickness in Primary Open-Angle Glaucoma Cases in the NEIGHBOR and GLAUGEN Consortia

Megan Ulmer, Jun Li, Brian L. Yaspan et al. · Investigative Ophthalmology & Visual Science · 2012 · 61 citations · Full text

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

Péter Gergics, Cathy Smith, Hironori Bando et al. · The American Journal of Human Genetics · 2021 · 56 citations · Full text

Transcriptional Regulation, Pituitary Gland, Genetics +11