Maystadt, Isabelle

Top Publications

Top Publications Authored or Co-Authored by "Maystadt, Isabelle"

• Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

  Nature Genetics, Volume 44, No. 5, Year 2012, Citations 159
• Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort

  Clinical Endocrinology, Volume 94, No. 2, Year 2021, Citations 100
• Phenotypic spectrum of simpson-golabi-behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature

  American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, Volume 163, No. 2, Year 2013, Citations 76
• 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
• A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8

  American Journal of Human Genetics, Volume 108, No. 6, Year 2021, Citations 47