| Dating the origin of the CCR5-Δ32 AIDS-resistance allele by the coalescence of haplotypes JC Stephens, DE Reich, DB Goldstein, HD Shin, MW Smith, M Carrington, ... The American Journal of Human Genetics 62 (6), 1507-1515, 1998 | 695 | 1998 |
| Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome PJ Coucke, A Willaert, MW Wessels, B Callewaert, N Zoppi, J De Backer, ... Nature genetics 38 (4), 452-457, 2006 | 444 | 2006 |
| Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome JA Martignetti, AA Aqeel, WA Sewairi, CE Boumah, M Kambouris, ... Nature genetics 28 (3), 261-265, 2001 | 377 | 2001 |
| Mutation of TBCE causes hypoparathyroidism–retardation–dysmorphism and autosomal recessive Kenny–Caffey syndrome. R Parvari, E Hershkovitz, N Grossman, R Gorodischer, B Loeys, A Zecic, ... Nature genetics 32 (3), 2002 | 256 | 2002 |
| Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome S Hadj-Rabia, G Brideau, Y Al-Sarraj, RC Maroun, ML Figueres, ... Genetics in Medicine 20 (2), 190-201, 2018 | 92 | 2018 |
| Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15. 3 M Kambouris, S Bohlega, A Al-Tahan, BF Meyer The American Journal of Human Genetics 66 (2), 445-452, 2000 | 87 | 2000 |
| Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC) S Bohlega, M Kambouris, M Shahid, M Al Homsi, W Al Sous Neurology 54 (1), 261-261, 2000 | 86 | 2000 |
| Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia H Banjar, M Kambouris, BF Meyer, A Al-Mehaidib, I Mogarri Annals of tropical paediatrics 19 (1), 69-73, 1999 | 76 | 1999 |
| A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14 CA Hodgkinson, S Bohlega, SN Abu–Amero, E Cupler, M Kambouris, ... Neurology 59 (12), 1905-1909, 2002 | 68 | 2002 |
| Predictive genomics DNA profiling for athletic performance M Kambouris, F Ntalouka, G Ziogas, N Maffulli Recent Patents on DNA & Gene Sequences (Discontinued) 6 (3), 229-239, 2012 | 64 | 2012 |
| Lack of association of lipoprotein lipase gene polymorphisms with coronary artery disease in the Saudi Arab population KK Abu-Amero, CA Wyngaard, OM Al-Boudari, M Kambouris, N Dzimiri Archives of pathology & laboratory medicine 127 (5), 597-600, 2003 | 64 | 2003 |
| Localization of the gene for X‐linked nephrogenic diabetes insipidus to Xq28 M Kambouris, SR Dlouhy, JA Trofatter, PM Conneally, ME Hodes, ... American journal of medical genetics 29 (1), 239-246, 1988 | 63 | 1988 |
| Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations M Kambouris, H Banjar, I Moggari, H Nazer, M Al-Hamed, BF Meyer European journal of pediatrics 159, 303-309, 2000 | 58 | 2000 |
| HRD/Autosomal Recessive Kenny-Caffey Syndrome Consortium. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome R Parvari, E Hershkovitz, N Grossman, R Gorodischer, B Loeys, A Zecic, ... Nat Genet 32 (3), 448-452, 2002 | 53 | 2002 |
| Heterogeneity of the cystic fibrosis phenotype in a large kindred family in Qatar with cystic fibrosis mutation (I1234V) AA Wahab, G Al Thani, ST Dawod, M Kambouris, M Al Hamed Journal of Tropical Pediatrics 47 (2), 110-112, 2001 | 53 | 2001 |
| Diagnosis of multiple endocrine neoplasia [MEN] 2A, 2B and familial medullary thyroid cancer [FMTC] by multiplex PCR and heteroduplex analyses of RET proto … M Kambouris, CE Jackson, GL Feldman Human mutation 8 (1), 64-70, 1996 | 53 | 1996 |
| Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings S Bohlega, B Lach, BF Meyer, Y Al Said, M Kambouris, M Al Homsi, ... Neurology 61 (11), 1519-1523, 2003 | 45 | 2003 |
| Sanjad‐Sakati and autosomal recessive Kenny‐Caffey syndromes are allelic: Evidence for an ancestral founder mutation and locus refinement GA Diaz, BD Gelb, F Ali, N Sakati, S Sanjad, BF Meyer, M Kambouris American journal of medical genetics 85 (1), 48-52, 1999 | 41 | 1999 |
| Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency E Al‐Jishi, BF Meyer, MS Rashed, M Al‐Essa, M Al‐Hamed, N Sakati, ... Clinical genetics 55 (6), 444-449, 1999 | 41 | 1999 |
| A novel KERAmutation associated with autosomal recessive cornea plana A Khan, M Kambouris Ophthalmic Genetics 25 (2), 147-152, 2004 | 29 | 2004 |
