| Mutation of TDP1, encoding a topoisomerase I–dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy H Takashima, CF Boerkoel, J John, GM Saifi, MAM Salih, D Armstrong, ... Nature genetics 32 (2), 267-272, 2002 | 565 | 2002 |
| Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2 A Bolino, M Muglia, FL Conforti, E LeGuern, MAM Salih, DM Georgiou, ... Nature genetics 25 (1), 17-19, 2000 | 559 | 2000 |
| Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families AM Alazami, N Patel, HE Shamseldin, S Anazi, MS Al-Dosari, F Alzahrani, ... Cell reports 10 (2), 148-161, 2015 | 449 | 2015 |
| Mutations in a Human ROBO Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis JC Jen, WM Chan, TM Bosley, J Wan, JR Carr, U Rüb, D Shattuck, ... Science 304 (5676), 1509-1513, 2004 | 424 | 2004 |
| Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 U Kornak, E Reynders, A Dimopoulou, J Van Reeuwijk, B Fischer, ... Nature genetics 40 (1), 32-34, 2008 | 415 | 2008 |
| Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development MA Tischfield, TM Bosley, MAM Salih, IA Alorainy, EC Sener, MJ Nester, ... Nature genetics 37 (10), 1035-1037, 2005 | 315 | 2005 |
| The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes D Monies, M Abouelhoda, M AlSayed, Z Alhassnan, M Alotaibi, H Kayyali, ... Human genetics 136, 921-939, 2017 | 259 | 2017 |
| C‐terminal titin deletions cause a novel early‐onset myopathy with fatal cardiomyopathy V Carmignac, MAM Salih, S Quijano‐Roy, S Marchand, MM Al Rayess, ... Annals of neurology 61 (4), 340-351, 2007 | 257 | 2007 |
| Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients M Anheim, B Monga, M Fleury, P Charles, C Barbot, M Salih, JP Delaunoy, ... Brain 132 (10), 2688-2698, 2009 | 254 | 2009 |
| Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy L Gueneau, AT Bertrand, JP Jais, MA Salih, T Stojkovic, M Wehnert, ... The American Journal of Human Genetics 85 (3), 338-353, 2009 | 245 | 2009 |
| Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome V Laugel, C Dalloz, M Durand, F Sauvanaud, U Kristensen, MC Vincent, ... Human mutation 31 (2), 113-126, 2010 | 238 | 2010 |
| Lessons learned from large-scale, first-tier clinical exome sequencing in a highly consanguineous population D Monies, M Abouelhoda, M Assoum, N Moghrabi, R Rafiullah, ... The American Journal of Human Genetics 104 (6), 1182-1201, 2019 | 236 | 2019 |
| Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations I Perrault, S Saunier, S Hanein, E Filhol, AA Bizet, F Collins, MAM Salih, ... The American Journal of Human Genetics 90 (5), 864-870, 2012 | 220 | 2012 |
| Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield S Anazi, S Maddirevula, E Faqeih, H Alsedairy, F Alzahrani, ... Molecular psychiatry 22 (4), 615-624, 2017 | 219 | 2017 |
| Antimicrobial activity of certain Sudanese plants used in folkloric medicine. Screening for antibacterial activity (IV). AZ Almagboul, AK Bashir, A Farouk, AKM Salih | 219 | 1985 |
| Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia C Tesson, M Nawara, MAM Salih, R Rossignol, MS Zaki, M Al Balwi, ... The American Journal of Human Genetics 91 (6), 1051-1064, 2012 | 214 | 2012 |
| Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome MC Manzini, DE Tambunan, RS Hill, WY Tim, TM Maynard, EL Heinzen, ... The American Journal of Human Genetics 91 (3), 541-547, 2012 | 208 | 2012 |
| Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes HE Shamseldin, M Alshammari, T Al-Sheddi, MA Salih, H Alkhalidi, ... Journal of medical genetics 49 (4), 234-241, 2012 | 196 | 2012 |
| Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan E Stevens, KJ Carss, S Cirak, AR Foley, S Torelli, T Willer, DE Tambunan, ... The American Journal of Human Genetics 92 (3), 354-365, 2013 | 189 | 2013 |
| Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation? R Hirano, H Interthal, C Huang, T Nakamura, K Deguchi, K Choi, ... The EMBO journal 26 (22), 4732-4743, 2007 | 168 | 2007 |
