Claire E. L. Smith

Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta

James A. Poulter, Gina Murillo Knudsen, Steven J. Brookes et al. · Human Molecular Genetics · 2014 · 126 citations · Full text

Developmental Anomaly, Developmental Biology, Family Members +15

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 · 122 citations · Full text

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 · 118 citations · Full text

Retinal Organoids, Structural Variants, Dominant Retinitis Pigmentosa +15

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 · 115 citations · Full text

Developmental Biology, Disease Mechanism, Human Growth +8

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 · 71 citations · Full text