Institut Jérôme Lejeune

Top Publications

Top Publications Authored or Co-Authored in "Institut Jérôme Lejeune"

• Mutations of POLR3A encoding a catalytic subunit of RNA polymerase pol III cause a recessive hypomyelinating leukodystrophy

  American Journal of Human Genetics, Volume 89, No. 3, Year 2011, Citations 219
• Vibratory urticaria associated with a missense variant in ADGRE2

  New England Journal of Medicine, Volume 374, No. 7, Year 2016, Citations 125
• Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

  Genetics in Medicine, Volume 25, No. 1, Year 2023, Citations 59
• Turner syndrome in diverse populations

  American Journal of Medical Genetics, Part A, Volume 182, No. 2, Year 2020, Citations 52
• Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations

  European Journal of Endocrinology, Volume 168, No. 1, Year 2013, Citations 47