| SUMO1 haploinsufficiency leads to cleft lip and palate FS Alkuraya, I Saadi, JJ Lund, A Turbe-Doan, CC Morton, RL Maas Science 313 (5794), 1751-1751, 2006 | 262 | 2006 |
| Apc inhibition of Wnt signaling regulates supernumerary tooth formation during embryogenesis and throughout adulthood XP Wang, DJ O'Connell, JJ Lund, I Saadi, M Kuraguchi, A Turbe-Doan, ... Oxford University Press for The Company of Biologists Limited 136 (11), 1939 …, 2009 | 233 | 2009 |
| Mutations in the RNA granule component TDRD7 cause cataract and glaucoma SA Lachke, FS Alkuraya, SC Kneeland, T Ohn, A Aboukhalil, GR Howell, ... Science 331 (6024), 1571-1576, 2011 | 206 | 2011 |
| Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria S Sibani, B Christensen, E O'Ferrall, I Saadi, F Hiou‐Tim, DS Rosenblatt, ... Human mutation 15 (3), 280-287, 2000 | 162 | 2000 |
| Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project AW Higgins, FS Alkuraya, AF Bosco, KK Brown, GAP Bruns, DJ Donovan, ... The American Journal of Human Genetics 82 (3), 712-722, 2008 | 138 | 2008 |
| Cystinuria subtype and the risk of nephrolithiasis P Goodyer, I Saadi, P Ong, G Elkas, R Rozen Kidney international 54 (1), 56-61, 1998 | 120 | 1998 |
| Identification of a dominant negative homeodomain mutation in Rieger syndrome I Saadi, EV Semina, BA Amendt, DJ Harris, KP Murphy, JC Murray, ... Journal of Biological Chemistry 276 (25), 23034-23041, 2001 | 105 | 2001 |
| Molecular genetics of cystinuria: Mutation analysis of SLC3A1 and evidence for another gene in the type I (silent) phenotype I Saadi, XZ Chen, M Hediger, P Ong, P Pereira, P Goodyer, R Rozen Kidney international 54 (1), 48-55, 1998 | 86 | 1998 |
| Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting I Saadi, FS Alkuraya, SS Gisselbrecht, W Goessling, R Cavallesco, ... The American Journal of Human Genetics 89 (1), 44-55, 2011 | 82 | 2011 |
| Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia MJ Dasouki, SK Rafi, AJ Olm-Shipman, NR Wilson, S Abhyankar, ... Blood, The Journal of the American Society of Hematology 122 (20), 3440-3449, 2013 | 78 | 2013 |
| Genomic analyses in African populations identify novel risk loci for cleft palate A Butali, PA Mossey, WL Adeyemo, MA Eshete, LJJ Gowans, TD Busch, ... Human molecular genetics 28 (6), 1038-1051, 2019 | 66 | 2019 |
| The cell adhesion gene PVRL3 is associated with congenital ocular defects SA Lachke, AW Higgins, M Inagaki, I Saadi, Q Xi, M Long, BJ Quade, ... Human genetics 131, 235-250, 2012 | 60 | 2012 |
| Exome sequencing provides additional evidence for the involvement of ARHGAP29 in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate H Liu, T Busch, S Eliason, D Anand, S Bullard, LJJ Gowans, N Nidey, ... Birth defects research 109 (1), 27-37, 2017 | 52 | 2017 |
| Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome P Kruszka, D Li, MH Harr, NR Wilson, D Swarr, EM McCormick, ... Journal of medical genetics 52 (2), 104-110, 2015 | 49 | 2015 |
| Molecular genetics of cystinuria in French Canadians: identification of four novel mutations in type I patients J Horsford, I Saadi, J Raelson, PR Goodyer, R Rozen Kidney international 49 (5), 1401-1406, 1996 | 49 | 1996 |
| A systematic genetic analysis and visualization of phenotypic heterogeneity among orofacial cleft GWAS signals JC Carlson, D Anand, A Butali, CJ Buxo, K Christensen, F Deleyiannis, ... Genetic epidemiology 43 (6), 704-716, 2019 | 48 | 2019 |
| SPECC1L deficiency results in increased adherens junction stability and reduced cranial neural crest cell delamination NR Wilson, AJ Olm-Shipman, DS Acevedo, K Palaniyandi, EG Hall, ... Scientific reports 6 (1), 17735, 2016 | 46 | 2016 |
| Dominant negative dimerization of a mutant homeodomain protein in Axenfeld-Rieger syndrome I Saadi, A Kuburas, JJ Engle, AF Russo Molecular and cellular biology 23 (6), 1968-1982, 2003 | 45 | 2003 |
| Msx1 and Tbx2 antagonistically regulate Bmp4 expression during the bud-to-cap stage transition in tooth development I Saadi, P Das, M Zhao, L Raj, I Ruspita, Y Xia, VE Papaioannou, M Bei Development 140 (13), 2697-2702, 2013 | 42 | 2013 |
| Cell-specific activation of the atrial natriuretic factor promoter by PITX2 and MEF2A R Toro, I Saadi, A Kuburas, M Nemer, AF Russo Journal of Biological Chemistry 279 (50), 52087-52094, 2004 | 34 | 2004 |
