Benjamin M. Nash

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive <i>TNNT3</i> splice variant

Sarah A. Sandaradura, Adam Bournazos, Amali Mallawaarachchi et al. · Human Mutation · 2017 · 65 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Revealing hidden genetic diagnoses in the ocular anterior segment disorders

Alan Ma, Saira Yousoof, John Grigg et al. · Genetics in Medicine · 2020 · 55 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in<i>SIPA1L3</i>cause eye defects through disruption of cell polarity and cytoskeleton organization

Rebecca Greenlees, Marija Mihelec, Saira Yousoof et al. · Human Molecular Genetics · 2015 · 51 citations · Full text

Medicine, Genetics, Molecular Genetics +17

NMNAT1 variants cause cone and cone-rod dystrophy

Benjamin M. Nash, Richard J. Symes, Himanshu Goel et al. · European Journal of Human Genetics · 2017 · 27 citations · Full text

Medicine, Molecular Genetics, Neuroscience +10

Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients

Rachael C. Heath Jeffery, Jennifer A Thompson, Johnny Lo et al. · Investigative Ophthalmology & Visual Science · 2024 · 25 citations · Full text

Medicine, Genetics, Ophthalmology +17