Christopher Smith

A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency

Rebecca Buchert, Hasan Tawamie, Christopher Smith et al. · The American Journal of Human Genetics · 2014 · 131 citations · Full text

Life Sciences, Biochemistry, Ophthalmology +17

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

Jason O'Rawe, Yiyang Wu, Max J. Dörfel et al. · The American Journal of Human Genetics · 2015 · 128 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Pathogenicity of two <i>COQ7</i> mutations and responses to 2,4‐dihydroxybenzoate bypass treatment

Ying Wang, Christopher Smith, Jillian S. Parboosingh et al. · Journal of Cellular and Molecular Medicine · 2017 · 70 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The Culture Environment Influences Both Gene Regulation and Phenotypic Heterogeneity in Escherichia coli

Ashley Smith, Agnieszka Kaczmar, Rosemary A. Bamford et al. · Frontiers in Microbiology · 2018 · 66 citations · Full text

Life Sciences, Biology, Microbiology +17

Whole‐exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families

Taila Hartley, Justin D. Wagner, Jodi Warman‐Chardon et al. · Clinical Genetics · 2017 · 59 citations

Life Sciences, Genetics, Neurology +17