| The genetics of hand malformations SA Temtamy, VA McKusick Birth defects original article series 14 (3), i-619, 1978 | 905 | 1978 |
| Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis C Toomes, J James, AJ Wood, CL Wu, D McCormick, N Lench, C Hewitt, ... Nature genetics 23 (4), 421-424, 1999 | 654 | 1999 |
| Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study GI Rice, GMA Forte, M Szynkiewicz, DS Chase, A Aeby, MS Abdel-Hamid, ... The lancet neurology 12 (12), 1159-1169, 2013 | 448 | 2013 |
| Consanguineous marriages, pearls and perils: Geneva international consanguinity workshop report H Hamamy, SE Antonarakis, LL Cavalli-Sforza, S Temtamy, G Romeo, ... Genetics in Medicine 13 (9), 841-847, 2011 | 427 | 2011 |
| Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery EM Scott, A Halees, Y Itan, EG Spencer, Y He, MA Azab, SB Gabriel, ... Nature genetics 48 (9), 1071-1076, 2016 | 366 | 2016 |
| 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 | 343 | 2010 |
| Extending the scope of the VATER association: definition of the VATER syndrome SA Temtamy, JD Miller The Journal of pediatrics 85 (3), 345-349, 1974 | 336 | 1974 |
| Mutations in WNT1 cause different forms of bone fragility K Keupp, F Beleggia, H Kayserili, AM Barnes, M Steiner, O Semler, ... The American Journal of Human Genetics 92 (4), 565-574, 2013 | 308 | 2013 |
| Synopsis of hand malformations with particular emphasis on genetic factors SA Temtamy Birth Defect 5, 125, 1969 | 277 | 1969 |
| Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta V Martínez‐Glez, M Valencia, JA Caparrós‐Martín, M Aglan, S Temtamy, ... Human mutation 33 (2), 343-350, 2012 | 249 | 2012 |
| Genetic disorders among Arab populations AS Teebi Springer Science & Business Media, 2010 | 217 | 2010 |
| Brachydactyly SA Temtamy, MS Aglan Orphanet journal of rare diseases 3, 1-16, 2008 | 189 | 2008 |
| 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 | 185 | 2010 |
| The Roberts syndrome MVR Freeman, DW Williams, RN Schimke, SA Temtamy, E Vachier, ... Clinical Genetics 5 (1), 1-16, 1974 | 154 | 1974 |
| Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction N Akizu, V Cantagrel, MS Zaki, L Al-Gazali, X Wang, RO Rosti, E Dikoglu, ... Nature genetics 47 (5), 528-534, 2015 | 143 | 2015 |
| Carpenter's syndrome: Acrocephalopolysyndactyly. An autosomal recessive syndrome SA Temtamy The Journal of Pediatrics 69 (1), 111-120, 1966 | 138 | 1966 |
| A genetic epidemiological study of malformations at birth in Egypt SA Temtamy EMHJ-Eastern Mediterranean Health Journal, 4 (2), 252-259, 1998, 1998 | 137 | 1998 |
| Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth D Hanson, PG Murray, J O'Sullivan, J Urquhart, S Daly, SS Bhaskar, ... The American Journal of Human Genetics 89 (1), 148-153, 2011 | 129 | 2011 |
| Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome R Shaheen, M Aglan, K Keppler-Noreuil, E Faqeih, S Ansari, K Horton, ... The American Journal of Human Genetics 92 (4), 598-604, 2013 | 128 | 2013 |
| 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 | 119 | 2012 |
