Raymond, Frances Lucy

Top Publications

Top Publications Authored or Co-Authored by "Raymond, Frances Lucy"

• A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

  Nature Genetics, Volume 41, No. 5, Year 2009, Citations 599
• SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

  American Journal of Human Genetics, Volume 82, No. 4, Year 2008, Citations 216
• Mutational spectrum of the oral-facial-digital type I syndrome: A study on a large collection of patients

  Human Mutation, Volume 29, No. 10, Year 2008, Citations 100
• Specific alleles of CLN7/MFSD8, a protein that localizes to photoreceptor synaptic terminals, cause a spectrum of nonsyndromic retinal dystrophy

  Investigative Ophthalmology and Visual Science, Volume 58, No. 7, Year 2017, Citations 100
• Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

  American Journal of Human Genetics, Volume 107, No. 5, Year 2020, Citations 65