| Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome CC Leitch, NA Zaghloul, EE Davis, C Stoetzel, A Diaz-Font, S Rix, ... Nature genetics 40 (4), 443-448, 2008 | 468 | 2008 |
| 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 | 450 | 2015 |
| Clinical exome sequencing: results from 2819 samples reflecting 1000 families D Trujillano, AM Bertoli-Avella, K Kumar Kandaswamy, MER Weiss, ... European Journal of Human Genetics 25 (2), 176-182, 2017 | 361 | 2017 |
| Exome sequencing and the management of neurometabolic disorders M Tarailo-Graovac, C Shyr, CJ Ross, GA Horvath, R Salvarinova, XC Ye, ... New England Journal of Medicine 374 (23), 2246-2255, 2016 | 312 | 2016 |
| 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 |
| 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 | 222 | 2017 |
| Expanding the genetic heterogeneity of intellectual disability S Anazi, S Maddirevula, V Salpietro, YT Asi, S Alsahli, A Alhashem, ... Human genetics 136, 1419-1429, 2017 | 150 | 2017 |
| Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing A Alfares, T Aloraini, A Alissa, A Al Qudsi, A Alahmad, F Al Mutairi, ... Genetics in Medicine 20 (11), 1328-1333, 2018 | 149 | 2018 |
| Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular … M Alfadhel, M Almuntashri, RH Jadah, FA Bashiri, MT Al Rifai, ... Orphanet journal of rare diseases 8, 1-8, 2013 | 145 | 2013 |
| 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 |
| Expanded newborn screening program in Saudi Arabia: incidence of screened disorders M Alfadhel, A Al Othaim, S Al Saif, F Al Mutairi, M Alsayed, Z Rahbeeni, ... Journal of paediatrics and child health 53 (6), 585-591, 2017 | 116 | 2017 |
| ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder ZN Al-Hassnan, M Al-Dosary, M Alfadhel, EA Faqeih, M Alsagob, ... Journal of medical genetics 52 (3), 186-194, 2015 | 115 | 2015 |
| Loss of tubulin deglutamylase CCP 1 causes infantile‐onset neurodegeneration V Shashi, MM Magiera, D Klein, M Zaki, K Schoch, S Rudnik‐Schöneborn, ... The EMBO journal 37 (23), e100540, 2018 | 104 | 2018 |
| Autozygome and high throughput confirmation of disease genes candidacy S Maddirevula, F Alzahrani, M Al-Owain, MA Al Muhaizea, HR Kayyali, ... Genetics in Medicine 21 (3), 736-742, 2019 | 97 | 2019 |
| Carnitine inborn errors of metabolism M Almannai, M Alfadhel, AW El-Hattab Molecules 24 (18), 3251, 2019 | 93 | 2019 |
| Clinical genetics of polydactyly: an updated review M Umair, F Ahmad, M Bilal, W Ahmad, M Alfadhel Frontiers in genetics 9, 447, 2018 | 92 | 2018 |
| A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield A Alfares, M Alfadhel, T Wani, S Alsahli, I Alluhaydan, F Al Mutairi, ... Molecular genetics and metabolism 121 (2), 91-95, 2017 | 84 | 2017 |
| Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia M Alfadhel, M Benmeakel, MA Hossain, F Al Mutairi, A Al Othaim, ... Orphanet journal of rare diseases 11, 1-12, 2016 | 81 | 2016 |
| Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort AM Bertoli-Avella, C Beetz, N Ameziane, ME Rocha, P Guatibonza, ... European Journal of Human Genetics 29 (1), 141-153, 2021 | 78 | 2021 |
| Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development MS Nahorski, S Maddirevula, R Ishimura, S Alsahli, AF Brady, ... Brain 141 (7), 1934-1945, 2018 | 74 | 2018 |
