Claire E. L. Smith

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

Ilham Ratbi, Kim D. Falkenberg, Manou Sommen et al. · The American Journal of Human Genetics · 2015 · 128 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta

James A. Poulter, Steven J. Brookes, Claire E. L. Smith et al. · Human Molecular Genetics · 2014 · 126 citations · Full text

Dentistry, Genetics, Oral Biology +17

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

Suzanne E. de Bruijn, Alessia Fiorentino, Stephanie Fanucchi et al. · The American Journal of Human Genetics · 2020 · 122 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth

Dan Hanson, Philip Murray, James O’Sullivan et al. · The American Journal of Human Genetics · 2011 · 116 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta

David Parry, Claire E. L. Smith, Walid El‐Sayed et al. · The American Journal of Human Genetics · 2016 · 73 citations · Full text

Dentistry, Molecular Biology, Oral Biology +15