Hayflick, Susan J.

Top Publications

Top Publications Authored or Co-Authored by "Hayflick, Susan J."

• Mutations in GJB6 cause hidrotic ectodermal dysplasia

  Nature Genetics, Volume 26, No. 2, Year 2000, Citations 253
• Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia

  Nature Communications, Volume 7, Article 11601, Year 2016, Citations 212
• KMT2B-related disorders: Expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

  Brain, Volume 143, No. 11, Year 2020, Citations 100
• MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

  American Journal of Human Genetics, Volume 99, No. 6, Year 2016, Citations 79
• Acetyl-4′-phosphopantetheine is stable in serum and prevents phenotypes induced by pantothenate kinase deficiency

  Scientific Reports, Volume 7, No. 1, Article 11260, Year 2017, Citations 24