Ryan E. Lamont

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Gabrielle Wheway, Miriam Schmidts, Dorus A. Mans et al. · Nature Cell Biology · 2015 · 250 citations · Full text

Life Sciences, Genetics, Molecular Biology +7

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

Svjetlana Lovric, Sara Gonçalves, Heon Yung Gee et al. · Journal of Clinical Investigation · 2017 · 208 citations · Full text

Medicine, Genetics, Molecular Genetics +17

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

Mutation of a Gene Essential for Ribosome Biogenesis, EMG1, Causes Bowen-Conradi Syndrome

Joy Armistead, Sunita Khatkar, Britta Meyer et al. · The American Journal of Human Genetics · 2009 · 128 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

Nina Bögershausen, Nassim Shahrzad, Jessica X. Chong et al. · The American Journal of Human Genetics · 2013 · 120 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13