Metcalfe, Kay A.

Top Publications

Top Publications Authored or Co-Authored by "Metcalfe, Kay A."

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

  Nature Genetics, Volume 48, No. 9, Year 2016, Citations 329
• Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

  Nature Communications, Volume 9, No. 1, Article 1960, Year 2018, Citations 90
• AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

  Acta Neuropathologica, Volume 146, No. 2, Year 2023, Citations 52
• The clinical presentation caused by truncating CHD8 variants

  Clinical Genetics, Volume 96, No. 1, Year 2019, Citations 32
• Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome

  American Journal of Human Genetics, Volume 108, No. 6, Year 2021, Citations 29