Samuel Thompson

Axenfeld-Rieger syndrome: more than meets the eye

Linda M. Reis, Mohit Maheshwari, Jenina Capasso et al. · Journal of Medical Genetics · 2022 · 78 citations · Full text

Medicine, Genetics, Ophthalmology +17

De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome

Linda M. Reis, Samuel Thompson, Sanaa Muheisen et al. · The American Journal of Human Genetics · 2019 · 38 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Disruption of foxc1 genes in zebrafish results in dosage-dependent phenotypes overlapping Axenfeld-Rieger syndrome

Jesús‐José Ferre‐Fernández, Samuel Thompson, Ross F. Collery et al. · Human Molecular Genetics · 2020 · 20 citations · Full text

Life Sciences, Developmental Biology, Genetics +17

Comprehensive phenotypic and functional analysis of dominant and recessive<i>FOXE3</i>alleles in ocular developmental disorders

Linda M. Reis, Ľubica Ďuďáková, Jana Moravíková et al. · Human Molecular Genetics · 2021 · 20 citations · Full text

Medicine, Genetics, Ophthalmology +17

WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins

Linda M. Reis, Samuel Thompson, Katherine Agre et al. · Human Genetics · 2021 · 14 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12