Splitt, Miranda Penman

Top Publications

Top Publications Authored or Co-Authored by "Splitt, Miranda Penman"

• Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome

  American Journal of Human Genetics, Volume 77, No. 2, Year 2005, Citations 114
• Genotype-phenotype analysis of the branchio-oculo-facial syndrome

  American Journal of Medical Genetics, Part A, Volume 155, No. 1, Year 2011, Citations 67
• Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

  Journal of Medical Genetics, Volume 48, No. 6, Year 2011, Citations 46
• Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort

  Human Mutation, Volume 39, No. 9, Year 2018, Citations 36