Michaud, Jacques L.

Top Publications

Top Publications Authored or Co-Authored by "Michaud, Jacques L."

• Wolcott-Rallison syndrome: Clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity

  Diabetes, Volume 53, No. 7, Year 2004, Citations 186
• Identification and Biochemical Characterization of a Novel Mutation in DDX11 Causing Warsaw Breakage Syndrome

  Human Mutation, Volume 34, No. 1, Year 2013, Citations 80
• Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay

  European Journal of Medical Genetics, Volume 58, No. 12, Year 2015, Citations 40
• OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels

  Human Mutation, Volume 31, No. 1, Year 2010, Citations 36
• Alstrom syndrome: Further evidence for linkage to human chromosome 2p13

  Human Genetics, Volume 105, No. 5, Year 1999, Citations 9