Tenorio, Jair

Top Publications

Top Publications Authored or Co-Authored by "Tenorio, Jair"

• Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

  Human Mutation, Volume 33, No. 2, Year 2012, Citations 194
• 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
• Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

  American Journal of Human Genetics, Volume 107, No. 5, Year 2020, Citations 42
• Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia

  American Journal of Medical Genetics, Part A, Volume 173, No. 3, Year 2017, Citations 36
• Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B

  Human Mutation, Volume 41, No. 1, Year 2020, Citations 29