| WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta SM Pyott, TT Tran, DF Leistritz, MG Pepin, NJ Mendelsohn, RT Temme, ... The American Journal of Human Genetics 92 (4), 590-597, 2013 | 240 | 2013 |
| Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics C Dafinger, MC Liebau, SM Elsayed, Y Hellenbroich, E Boltshauser, ... The Journal of clinical investigation 121 (7), 2662-2667, 2011 | 218 | 2011 |
| The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care BT Wilson, Z Stark, RE Sutton, S Danda, AV Ekbote, SM Elsayed, ... Genetics in medicine 18 (5), 483-493, 2016 | 182 | 2016 |
| Consanguinity and its relevance to clinical genetics RM Shawky, SM Elsayed, ME Zaki, SMN El-Din, FM Kamal Egyptian Journal of Medical Human Genetics 14 (2), 2013 | 167 | 2013 |
| Consanguineous matings among Egyptian population RM Shawky, MY El-Awady, SM Elsayed, GE Hamadan Egyptian Journal of Medical Human Genetics 12 (2), 157-163, 2011 | 139 | 2011 |
| Multidisciplinary management of cancer patients: chasing a shadow or real value? An overview of the literature JM Croke, S El-Sayed Current Oncology 19 (4), 232-238, 2012 | 135 | 2012 |
| Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis AL Fenwick, M Kliszczak, F Cooper, J Murray, L Sanchez-Pulido, ... The American Journal of Human Genetics 99 (1), 125-138, 2016 | 114 | 2016 |
| Next‐generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational … C Neuhaus, T Eisenberger, C Decker, S Nagl, C Blank, M Pfister, ... Molecular genetics & genomic medicine 5 (5), 531-552, 2017 | 73 | 2017 |
| Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients TY Abdel Ghaffar, SM Elsayed, S Elnaghy, A Shadeed, ES Elsobky, ... BMC pediatrics 11, 1-11, 2011 | 73 | 2011 |
| Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations TY Abdelghaffar, SM Elsayed, E Elsobky, B Bochow, J Büttner, H Schmidt Journal of human genetics 53 (8), 681-687, 2008 | 62 | 2008 |
| Evidence for single origins of 35delG and delE120 mutations in the GJB2 gene in Anatolia M Tekin, G Boğoclu, ST Arican, MN Orman, H Tastan, S Elsayed, N Akar Clinical genetics 67 (1), 31-37, 2005 | 61 | 2005 |
| Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene C Redaelli, RA Coleman, L Moro, C Dacou-Voutetakis, SM Elsayed, ... Orphanet Journal of Rare Diseases 5, 1-11, 2010 | 59 | 2010 |
| Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations SM Elsayed, R Heller, M Thoenes, MS Zaki, D Swan, E Elsobky, C Zühlke, ... European Journal of Human Genetics 22 (2), 286-288, 2014 | 50 | 2014 |
| Structural chromosomal abnormalities in couples with recurrent abortion in Egypt NEA Gaboon, AR Mohamed, SM Elsayed, OK Zaki, MA Elsayed Turkish journal of medical sciences 45 (1), 208-213, 2015 | 40 | 2015 |
| Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene SM Elsayed, JB Phillips, R Heller, M Thoenes, E Elsobky, G Nürnberg, ... Human molecular genetics 24 (9), 2594-2603, 2015 | 33 | 2015 |
| Phenotype of apoptotic lymphocytes in children with Down syndrome SM Elsayed, GM Elsayed Immunity & Ageing 6, 1-5, 2009 | 33 | 2009 |
| Outcome of enzyme replacement therapy in children with Gaucher disease: the Egyptian experience AS Khalifa, AA Tantawy, RM Shawky, E Monir, SM Elsayed, E Fateen, ... Egyptian Journal of Medical Human Genetics 12 (1), 9-14, 2011 | 27 | 2011 |
| Mutational analysis of the MEFV gene in Egyptian patients with familial Mediterranean fever A Öztürk, E ELSOBKY, SM Elsayed, M Alhodhod, N Akar Turkish Journal of Medical Sciences 39 (2), 229-234, 2009 | 25 | 2009 |
| An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients LS Almeida, C Pereira, R Aanicai, S Schröder, T Bochinski, A Kaune, ... European Journal of Human Genetics 30 (9), 1029-1035, 2022 | 21 | 2022 |
| Maternal MTHFR C677T genotype and septal defects in offspring with Down syndrome: A pilot study GM Elsayed, SM Elsayed, SS Ezz-Elarab Egyptian Journal of Medical Human Genetics 15 (1), 39-44, 2014 | 21 | 2014 |
