Hudgins, Louanne M.

Top Publications

Top Publications Authored or Co-Authored by "Hudgins, Louanne M."

• Mutations in FKBp10, which result in bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

  Human Molecular Genetics, Volume 22, No. 1, Article dds371, Year 2013, Citations 123
• Cornelia de Lange syndrome in diverse populations

  American Journal of Medical Genetics, Part A, Volume 179, No. 2, Year 2019, Citations 65
• Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling

  Circulation, Volume 136, No. 11, Year 2017, Citations 45