Lapunzina-Badía, Pablo Daniel

Top Publications

Top Publications Authored or Co-Authored by "Lapunzina-Badía, Pablo Daniel"

• Identification of a frameshift mutation in osterix in a patient with recessive osteogenesis imperfecta

  American Journal of Human Genetics, Volume 87, No. 1, Year 2010, Citations 265
• Mutations in WNT1 cause different forms of bone fragility

  American Journal of Human Genetics, Volume 92, No. 4, Year 2013, Citations 245
• 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
• Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome

  American Journal of Human Genetics, Volume 77, No. 2, Year 2005, Citations 114
• Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

  Human Mutation, Volume 33, No. 10, Year 2012, Citations 93