| 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 |
| 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 | 221 | 2017 |
| TLE6 mutation causes the earliest known human embryonic lethality AM Alazami, SM Awad, S Coskun, S Al-Hassan, H Hijazi, FM Abdulwahab, ... Genome biology 16, 1-8, 2015 | 197 | 2015 |
| Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation R Shaheen, AM Alazami, MJ Alshammari, E Faqeih, N Alhashmi, ... Journal of medical genetics 49 (10), 630-635, 2012 | 166 | 2012 |
| Characterizing the morbid genome of ciliopathies R Shaheen, K Szymanska, B Basu, N Patel, N Ewida, E Faqeih, ... Genome biology 17, 1-11, 2016 | 150 | 2016 |
| Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome AM Alazami, A Al-Saif, A Al-Semari, S Bohlega, S Zlitni, F Alzahrani, ... The American Journal of Human Genetics 83 (6), 684-691, 2008 | 150 | 2008 |
| Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases Saudi Mendeliome Group falkuaya@ kfshrc. edu. sa Genome biology 16, 1-14, 2015 | 138 | 2015 |
| Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue AM Alazami, SM Al-Qattan, E Faqeih, A Alhashem, M Alshammari, ... Human genetics 135, 525-540, 2016 | 124 | 2016 |
| Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus AM Alazami, H Hijazi, MS Al-Dosari, R Shaheen, A Hashem, ... Journal of medical genetics 50 (7), 425-430, 2013 | 124 | 2013 |
| Katanin p80 regulates human cortical development by limiting centriole and cilia number WF Hu, O Pomp, T Ben-Omran, A Kodani, K Henke, GH Mochida, ... Neuron 84 (6), 1240-1257, 2014 | 110 | 2014 |
| Genomic and phenotypic delineation of congenital microcephaly R Shaheen, S Maddirevula, N Ewida, S Alsahli, GMH Abdel-Salam, ... Genetics in Medicine 21 (3), 545-552, 2019 | 99 | 2019 |
| FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome AM Alazami, R Shaheen, F Alzahrani, K Snape, A Saggar, B Brinkmann, ... The American Journal of Human Genetics 85 (3), 414-418, 2009 | 97 | 2009 |
| A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18) AM Alazami, N Adly, H Al Dhalaan, FS Alkuraya Neurogenetics 12, 333-336, 2011 | 85 | 2011 |
| Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance Z Zhang, F Gothe, P Pennamen, JR James, D McDonald, CP Mata, ... Journal of Experimental Medicine 216 (6), 1311-1327, 2019 | 82 | 2019 |
| Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism AM Alazami, M Al‐Owain, F Alzahrani, T Shuaib, H Al‐Shamrani, ... Human mutation 33 (10), 1429-1434, 2012 | 77 | 2012 |
| A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B AM Alazami, AY Kentab, E Faqeih, JY Mohamed, H Alkhalidi, H Hijazi, ... Journal of medical genetics 52 (6), 400-404, 2015 | 71 | 2015 |
| KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome AAWM Sanders, E de Vrieze, AM Alazami, F Alzahrani, EB Malarkey, ... Genome biology 16, 1-23, 2015 | 67 | 2015 |
| Novel CARMIL2 mutations in patients with variable clinical dermatitis, infections, and combined immunodeficiency AM Alazami, M Al-Helale, S Alhissi, B Al-Saud, H Alajlan, D Monies, ... Frontiers in Immunology 9, 203, 2018 | 66 | 2018 |
| Molecular characterization of Joubert syndrome in Saudi Arabia AM Alazami, MJ Alshammari, MA Salih, F Alzahrani, H Hijazi, ... Human mutation 33 (10), 1423-1428, 2012 | 65 | 2012 |
| PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly R Shaheen, M Tasak, S Maddirevula, GMH Abdel-Salam, ISM Sayed, ... Human genetics 138, 231-239, 2019 | 60 | 2019 |
