Firth, Helen V.

Top Publications

Top Publications Authored or Co-Authored by "Firth, Helen V."

• Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

  Nature Genetics, Volume 48, No. 9, Year 2016, Citations 329
• 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
• The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources

  Genetics in Medicine, Volume 24, No. 8, Year 2022, Citations 46
• Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)

  Human Mutation, Volume 31, No. 11, Year 2010, Citations 37