Julie Vogt

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Keren Carss, Gavin Arno, Marie Erwood et al. · The American Journal of Human Genetics · 2016 · 463 citations · Full text

Whole-genome Sequencing, Allelic Variant, Genetic Disorder +11

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Morad Ansari, Gemma Poke, Quentin R. V. Ferry et al. · Journal of Medical Genetics · 2014 · 165 citations · Full text

The gain of function <i>SCN1A</i> disorder spectrum: novel epilepsy phenotypes and therapeutic implications

Andreas Brunklaus, Tobias Brünger, Tony Feng et al. · Brain · 2022 · 137 citations · Full text

Neurological Disorder, Scn1a Variants Cluster, Therapeutic Implications +18

Clinical and genetic aspects of KBG syndrome

Karen Low, Tazeen Ashraf, Natalie Canham et al. · American Journal of Medical Genetics Part A · 2016 · 136 citations · Full text

Mutation Analysis of CHRNA1, CHRNB1, CHRND, and RAPSN Genes in Multiple Pterygium Syndrome/Fetal Akinesia Patients

Julie Vogt, Benjamin J. Harrison, Hayley Spearman et al. · The American Journal of Human Genetics · 2008 · 124 citations · Full text

Genetic Disorder, Genetics, Rapsn Genes +7