Marios Kambouris

Dating the Origin of the CCR5-Δ32 AIDS-Resistance Allele by the Coalescence of Haplotypes

J. Claiborne Stephens, David Reich, David Goldstein et al. · The American Journal of Human Genetics · 1998 · 523 citations · Full text

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

Paul Coucke, Andy Willaert, Marja W. Wessels et al. · Nature Genetics · 2006 · 392 citations · Full text

Metabolic Syndrome, Arterial Tortuosity Syndrome, Molecular Physiology +8

Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome

John A. Martignetti, A. Al Aqeel, Wafaa Sewairi et al. · Nature Genetics · 2001 · 311 citations

Bone Disease, Rheumatology, Sclerostin +12

Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome

S. Hadj‐Rabia, Gaëlle Brideau, Yasser Al‐Sarraj et al. · Genetics in Medicine · 2017 · 98 citations · Full text

Genetic Disorder, Genetics, Pathology +4

Localization of the Gene for a Novel Autosomal Recessive Neurodegenerative Huntington-Like Disorder to 4p15.3

Marios Kambouris, Saeed Bohlega, Abdulrahman AlTahan et al. · The American Journal of Human Genetics · 2000 · 85 citations · Full text

Neurodegenerative Diseases, Molecular Neuroscience, Mendelian Disorder +9