Lees, Melissa M.

Top Publications

Top Publications Authored or Co-Authored by "Lees, Melissa M."

• Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux

  American Journal of Human Genetics, Volume 75, No. 1, Year 2004, Citations 333
• Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

  Nature Genetics, Volume 43, No. 3, Year 2011, Citations 227
• CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

  American Journal of Human Genetics, Volume 81, No. 1, Year 2007, Citations 145
• Mutational spectrum of the oral-facial-digital type I syndrome: A study on a large collection of patients

  Human Mutation, Volume 29, No. 10, Year 2008, Citations 100
• Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

  Genetics in Medicine, Volume 23, No. 11, Year 2021, Citations 97