White, Susan M.

Top Publications

Top Publications Authored or Co-Authored by "White, Susan M."

• The Cockayne Syndrome Natural History (CoSyNH) study: Clinical findings in 102 individuals and recommendations for care

  Genetics in Medicine, Volume 18, No. 5, Year 2016, Citations 128
• Mutational spectrum of the oral-facial-digital type I syndrome: A study on a large collection of patients

  Human Mutation, Volume 29, No. 10, Year 2008, Citations 100
• Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

  Journal of Human Genetics, Volume 64, No. 12, Year 2019, Citations 79
• The phenotype of Floating-Harbor syndrome: Clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

  Orphanet Journal of Rare Diseases, Volume 8, No. 1, Article 63, Year 2013, Citations 68
• Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling

  Genetics in Medicine, Volume 24, No. 8, Year 2022, Citations 25