| Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta P Lapunzina, M Aglan, S Temtamy, JA Caparrós-Martín, M Valencia, ... The American Journal of Human Genetics 87 (1), 110-114, 2010 | 340 | 2010 |
| LRP4 mutations alter Wnt/β-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome Y Li, B Pawlik, N Elcioglu, M Aglan, H Kayserili, G Yigit, F Percin, ... The American Journal of Human Genetics 86 (5), 696-706, 2010 | 180 | 2010 |
| A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient I Mazen, M El-Gammal, M Abdel-Hamid, K Amr Molecular genetics and metabolism 97 (4), 305-308, 2009 | 138 | 2009 |
| Mutations in PLOD2 cause autosomal‐recessive connective tissue disorders within the Bruck syndrome—Osteogenesis imperfecta phenotypic spectrum MT Puig‐Hervás, S Temtamy, M Aglan, M Valencia, V Martínez‐Glez, ... Human mutation 33 (10), 1444-1449, 2012 | 114 | 2012 |
| Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling Y Li, K Laue, S Temtamy, M Aglan, LD Kotan, G Yigit, H Canan, B Pawlik, ... The American Journal of Human Genetics 87 (6), 757-767, 2010 | 105 | 2010 |
| Early diagnostic evaluation of miR-122 and miR-224 as biomarkers for hepatocellular carcinoma KS Amr, HAE Atia, RAE Elbnhawy, WM Ezzat Genes & diseases 4 (4), 215-221, 2017 | 93 | 2017 |
| Homozygosity for a novel missense mutation in the leptin receptor gene (P316T) in two Egyptian cousins with severe early onset obesity I Mazen, M El-Gammal, M Abdel-Hamid, IS Farooqi, K Amr Molecular genetics and metabolism 102 (4), 461-464, 2011 | 85 | 2011 |
| The potential role of miRNAs 21 and 199-a in early diagnosis of hepatocellular carcinoma KS Amr, WM Ezzat, YA Elhosary, AE Hegazy, HH Fahim, RR Kamel Gene 575 (1), 66-70, 2016 | 76 | 2016 |
| Association of vitamin D receptor gene polymorphism (VDR) with vitamin D deficiency, metabolic and inflammatory markers in Egyptian obese women M Zaki, S Kamal, WA Basha, E Youness, W Ezzat, H El-Bassyouni, K Amr Genes & diseases 4 (3), 176-182, 2017 | 66 | 2017 |
| Potential value of circulating microRNA-126 and microRNA-210 as biomarkers for type 2 diabetes with coronary artery disease KS Amr, H Abdelmawgoud, ZY Ali, S Shehata, HM Raslan British journal of biomedical science 75 (2), 82-87, 2018 | 61 | 2018 |
| Long interspersed nuclear element‐1 (LINE1)‐mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis–van Creveld syndrome with borderline intelligence SA Temtamy, MS Aglan, M Valencia, G Cocchi, M Pacheco, AM Ashour, ... Human mutation 29 (7), 931-938, 2008 | 61 | 2008 |
| Expanding the phenome and variome of skeletal dysplasia S Maddirevula, S Alsahli, L Alhabeeb, N Patel, F Alzahrani, ... Genetics in Medicine 20 (12), 1609-1616, 2018 | 57 | 2018 |
| Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis GY El‐Kamah, K Fong, M El‐Ruby, HH Afifi, SE Clements, JE Lai‐Cheong, ... British Journal of Dermatology 163 (1), 213-215, 2010 | 56 | 2010 |
| Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype–phenotype correlations JA Caparrós‐Martin, M Valencia, V Pulido, V Martínez‐Glez, ... American Journal of Medical Genetics Part A 161 (6), 1354-1369, 2013 | 55 | 2013 |
| Assay for hepatitis C virus in peripheral blood mononuclear cells enhances sensitivity of diagnosis and monitoring of HCV-associated hepatitis MK El-Awady, SM Ismail, M El-Sagheer, YA Sabour, KS Amr, EA Zaki Clinica chimica acta 283 (1-2), 1-14, 1999 | 47 | 1999 |
| Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I GMH Abdel‐Salam, MS Abdel‐Hamid, M Issa, A Magdy, A El‐Kotoury, ... American journal of medical genetics Part A 158 (6), 1455-1461, 2012 | 44 | 2012 |
| Assessment of the− 174G/C (rs1800795) and− 572G/C (rs1800796) interleukin 6 gene polymorphisms in Egyptian patients with rheumatoid arthritis K Amr, R El-Awady, H Raslan Open access Macedonian journal of medical sciences 4 (4), 574, 2016 | 43 | 2016 |
| APOA2 polymorphism in relation to obesity and lipid metabolism ME Zaki, KS Amr, M Abdel-Hamid Cholesterol 2013, 2013 | 37 | 2013 |
| The role of microRNA-31 and microRNA-21 as regulatory biomarkers in the activation of T lymphocytes of Egyptian lupus patients KS Amr, FS Bayoumi, FT Elgengehy, SO Abdallah, HH Ahmed, E Eissa Rheumatology international 36, 1617-1625, 2016 | 34 | 2016 |
| Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants C Neuray, R Maroofian, M Scala, T Sultan, GS Pai, M Mojarrad, ... Brain 143 (8), 2388-2397, 2020 | 31 | 2020 |
