Rachel J. Howarth

Genetic analysis of chromosome 11p13 and the <i>PAX6</i> gene in a series of 125 cases referred with aniridia

David Robinson, Rachel J. Howarth, Kathleen A. Williamson et al. · American Journal of Medical Genetics Part A · 2008 · 122 citations

Cytogenetics, Genetics, Genetic Epidemiology +17

Ocular Findings in Gillespie-Like Syndrome: Association with a New PAX6 Mutation

Benjamin H. Ticho, Clair Hilchie-Schmidt, Robert T. Egel et al. · Ophthalmic Genetics · 2006 · 41 citations

Detection of 53 <i>FBN1</i> mutations (41 novel and 12 recurrent) and genotype–phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy

Claire Turner, Herschell S. Emery, Amanda Collins et al. · American Journal of Medical Genetics Part A · 2009 · 40 citations

Genetics, Genotype–phenotype Correlations, Genetic Epidemiology +19

Application of dHPLC for Mutation Detection of the Fibrillin-1 Gene for the Diagnosis of Marfan Syndrome in a National Health Service Laboratory

Rachel J. Howarth, Catharina Yearwood, John F. Harvey · Genetic Testing · 2007 · 28 citations

Fibrillin-1 Gene, Engineering, Genetics +20

Screening of a large PAX6 cohort identified many novel variants and emphasises the importance of the paired and homeobox domains

Esther Cross, Philippa J. Duncan‐Flavell, Rachel J. Howarth et al. · European Journal of Medical Genetics · 2020 · 19 citations

Large Pax6 Cohort, Allelic Variant, Medicine +11