A. Reghan Foley

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen et al. · Science Translational Medicine · 2017 · 806 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Observational study of spinal muscular atrophy type I and implications for clinical trials

Richard S. Finkel, Michael McDermott, Petra Kaufmann et al. · Neurology · 2014 · 526 citations · Full text

Medicine, Neurology, Geriatric Care +10

The Role of <i>PIEZO2</i> in Human Mechanosensation

Alexander T. Chesler, Marcin Szczot, Diana Bharucha‐Goebel et al. · New England Journal of Medicine · 2016 · 472 citations · Full text

Life Sciences, Genetics, Neurology +17

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Jie Huang, Bryan Howie, Shane McCarthy et al. · Nature Communications · 2015 · 385 citations · Full text

Public Health, Genetics, Molecular Genetics +17

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

Clare V. Logan, György Szabadkai, Jenny A. Sharpe et al. · Nature Genetics · 2013 · 377 citations · Full text

Life Sciences, Genetics, Neuroscience +17