Bieth, Éric

Top Publications

Top Publications Authored or Co-Authored by "Bieth, Éric"

• Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis

  Nature Genetics, Volume 37, No. 9, Year 2005, Citations 247
• Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

  Journal of Medical Genetics, Volume 59, No. 6, Year 2022, Citations 91
• 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
• Clinical, biomarker, and molecular delineations and genotype-Phenotype correlations of ataxia with oculomotor apraxia type 1

  JAMA Neurology, Volume 75, No. 4, Year 2018, Citations 43
• Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families

  Journal of Medical Genetics, Volume 47, No. 12, Year 2010, Citations 31