Joshua A. Suhl

Independent role for presynaptic FMRP revealed by an <i>FMR1</i> missense mutation associated with intellectual disability and seizures

Leila K. Myrick, Pan‐Yue Deng, Hideharu Hashimoto et al. · Proceedings of the National Academy of Sciences · 2015 · 127 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Reactivation of FMR1 by CRISPR/Cas9-Mediated Deletion of the Expanded CGG-Repeat of the Fragile X Chromosome

Nina Xie, He Gong, Joshua A. Suhl et al. · PLoS ONE · 2016 · 122 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Identification of novel <i>FMR1</i> variants by massively parallel sequencing in developmentally delayed males

Stephen C. Collins, Steven M. Bray, Joshua A. Suhl et al. · American Journal of Medical Genetics Part A · 2010 · 119 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS

Donna M. McDonald‐McGinn, Somayyeh Fahiminiya, Timothée Revil et al. · Journal of Medical Genetics · 2012 · 116 citations · Full text

Medicine, Radiology, Surgery +17

Analysis of FMRP mRNA target datasets reveals highly associated mRNAs mediated by G-quadruplex structures formed via clustered WGGA sequences

Joshua A. Suhl, Pankaj Chopra, Bart R. Anderson et al. · Human Molecular Genetics · 2014 · 84 citations · Full text

Life Sciences, Genetics, Molecular Biology +17