Graham, John M.

Top Publications

Top Publications Authored or Co-Authored by "Graham, John M."

• Proteus syndrome: Diagnostic criteria, differential diagnosis, and patient evaluation

  American Journal of Medical Genetics, Volume 84, No. 5, Year 1999, Citations 407
• Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

  Nature Genetics, Volume 37, No. 3, Year 2005, Citations 222
• Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

  Human Mutation, Volume 34, No. 5, Year 2013, Citations 116
• Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

  Brain, Volume 144, No. 5, Year 2021, Citations 100
• An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

  American Journal of Human Genetics, Volume 109, No. 10, Year 2022, Citations 62