Amselem, Serge

Top Publications

Top Publications Authored or Co-Authored by "Amselem, Serge"

• Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature

  Journal of Clinical Investigation, Volume 116, No. 3, Year 2006, Citations 318
• Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation

  Science Translational Medicine, Volume 8, No. 332, Article 332ra45, Year 2016, Citations 250
• ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

  American Journal of Human Genetics, Volume 93, No. 2, Year 2013, Citations 179
• Human Prop-1: Cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency

  FEBS Letters, Volume 437, No. 3, Year 1998, Citations 129
• X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

  Nature Communications, Volume 8, Article 14279, Year 2017, Citations 124