Canham, Natalie Louise Eiluned

Top Publications

Top Publications Authored or Co-Authored by "Canham, Natalie Louise Eiluned"

• 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
• Arterial tortuosity syndrome: 40 new families and literature review

  Genetics in Medicine, Volume 20, No. 10, Year 2018, Citations 67
• Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

  Genetics in Medicine, Volume 23, No. 7, Year 2021, Citations 44