Kambouris, Marios

Top Publications

Top Publications Authored or Co-Authored by "Kambouris, Marios"

• Dating the origin of the CCR5-Δ32 AIDS-resistance allele by the coalescence of haplotypes

  American Journal of Human Genetics, Volume 62, No. 6, Year 1998, Citations 497
• Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome

  Nature Genetics, Volume 28, No. 3, Year 2001, Citations 308
• Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey Syndrome

  Nature Genetics, Volume 32, No. 3, Year 2002, Citations 62
• Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency

  Clinical Genetics, Volume 55, No. 6, Year 1999, Citations 36
• Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

  Human Mutation, Volume 40, No. 3, Year 2019, Citations 34