Fryer, Alan E.

Top Publications

Top Publications Authored or Co-Authored by "Fryer, Alan E."

• 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 the pre-replication complex cause Meier-Gorlin syndrome

  Nature Genetics, Volume 43, No. 4, Year 2011, Citations 249
• Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

  European Journal of Human Genetics, Volume 20, No. 6, Year 2012, Citations 102
• Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

  American Journal of Human Genetics, Volume 97, No. 4, Year 2015, Citations 101
• Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

  American Journal of Medical Genetics, Part A, Volume 158 A, No. 11, Year 2012, Citations 47