Marios Kambouris
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Congenital heart defects research, RNA modifications and cancer
Most-Cited Works
- → Dating the Origin of the CCR5-Δ32 AIDS-Resistance Allele by the Coalescence of Haplotypes(1998)524 cited
- → Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome(2006)396 cited
- → Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome(2001)312 cited
- → Mutation of TBCE causes hypoparathyroidism– retardation–dysmorphism and autosomal recessive Kenny–Caffey syndrome(2002)268 cited
- → Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome(2017)100 cited
- → Localization of the Gene for a Novel Autosomal Recessive Neurodegenerative Huntington-Like Disorder to 4p15.3(2000)85 cited
- → Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC)(2000)77 cited
- → Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations(2000)54 cited
- → Severe clinical presentation in monozygotic twins with 10p15.3 microdeletion syndrome(2013)54 cited
- → A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14(2002)50 cited