Emily Place

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing

Mark Consugar, Daniel Navarro-Gomez, Emily Place et al. · Genetics in Medicine · 2014 · 252 citations · Full text

Inherited Eye Diseases, Genetic Testing, Genetic Disorder +11

NMNAT1 mutations cause Leber congenital amaurosis

Marni J. Falk, Qi Zhang, Eiko Nakamaru‐Ogiso et al. · Nature Genetics · 2012 · 196 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +5

Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy

Xiaowu Gai, Daniele Ghezzi, Mark Johnson et al. · The American Journal of Human Genetics · 2013 · 176 citations · Full text

Mitochondrial Myopathy, Mitophagy, Mendelian Disorder +14

An FDA/CDER perspective on nonclinical testing strategies: Classical toxicology approaches and new approach methodologies (NAMs)

Amy M. Avila, Ilona Bebenek, Jessica A. Bonzo et al. · Regulatory Toxicology and Pharmacology · 2020 · 176 citations

Fda/cder Perspective, Preclinical Drug Evaluation, Pharmacology +8

Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndrome

Kinga M. Bujakowska, Qi Zhang, Anna M. Siemiatkowska et al. · Human Molecular Genetics · 2014 · 155 citations · Full text

Ocular Disease, Developmental Biology, Retina +15