Chloe Stutterd

Genotype-phenotype correlations in <i>SCN8A</i> -related disorders reveal prognostic and therapeutic implications

Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko et al. · Brain · 2021 · 138 citations · Full text

A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis

Tiong Yang Tan, Sebastian Lunke, Belinda Chong et al. · European Journal of Human Genetics · 2019 · 54 citations · Full text

Functional Genomics, Sequencing, Diagnostic Efficacy +15

Revealing hidden genetic diagnoses in the ocular anterior segment disorders

Alan Ma, Saira Yousoof, John Grigg et al. · Genetics in Medicine · 2020 · 54 citations · Full text

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots

Thaís Armangué, Joseph J. Orsini, Asako Takanohashi et al. · Molecular Genetics and Metabolism · 2017 · 51 citations · Full text

Pediatrics, Pathology, Diagnosis +5

Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants

Johanna C. Herkert, Judith M.A. Verhagen, Raquel Yotti et al. · American Heart Journal · 2020 · 47 citations · Full text