| 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 | 456 | 2015 |
| 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 | 267 | 2017 |
| 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 | 251 | 2019 |
| AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ... Nature communications 10 (1), 3094, 2019 | 196 | 2019 |
| 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 | 153 | 2018 |
| 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 | 124 | 2017 |
| Hyperhomocysteinemia: clinical insights F Al Mutairi Journal of central nervous system disease 12, 1179573520962230, 2020 | 92 | 2020 |
| 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 | 87 | 2021 |
| 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 | 86 | 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 | 84 | 2016 |
| PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation V Chelban, MP Wilson, J Warman Chardon, J Vandrovcova, MN Zanetti, ... Annals of neurology 86 (2), 225-240, 2019 | 69 | 2019 |
| Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease T Le Voyer, AL Neehus, R Yang, M Ogishi, J Rosain, F Alroqi, M Alshalan, ... Proceedings of the National Academy of Sciences 118 (15), e2102804118, 2021 | 60 | 2021 |
| Guidelines for acute management of hyperammonemia in the Middle East region M Alfadhel, FA Mutairi, N Makhseed, FA Jasmi, K Al-Thihli, E Al-Jishi, ... Therapeutics and clinical risk management, 479-487, 2016 | 57 | 2016 |
| Bi-allelic JAM2 variants lead to early-onset recessive primary familial brain calcification LV Schottlaender, R Abeti, Z Jaunmuktane, C Macmillan, V Chelban, ... The American Journal of Human Genetics 106 (3), 412-421, 2020 | 54 | 2020 |
| Phenotypic and molecular spectrum of Aicardi-Goutières syndrome: a study of 24 patients F Al Mutairi, M Alfadhel, M Nashabat, AW El-Hattab, T Ben-Omran, ... Pediatric Neurology 78, 35-40, 2018 | 54 | 2018 |
| Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination S Efthymiou, V Salpietro, N Malintan, M Poncelet, Y Kriouile, S Fortuna, ... Brain 142 (10), 2948-2964, 2019 | 52 | 2019 |
| Congenital disorders of glycosylation: the Saudi experience S Alsubhi, A Alhashem, E Faqeih, M Alfadhel, A Alfaifi, W Altuwaijri, ... American journal of medical genetics Part A 173 (10), 2614-2621, 2017 | 40 | 2017 |
| Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans M Alfadhel, M Nashabat, HA Qahtani, A Alfares, FA Mutairi, HA Shaalan, ... Human genetics 135, 1263-1268, 2016 | 40 | 2016 |
| Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders AM Bertoli-Avella, KK Kandaswamy, S Khan, N Ordonez-Herrera, ... Genetics in Medicine 23 (8), 1551-1568, 2021 | 38 | 2021 |
| A lethal neonatal phenotype of mitochondrial short‐chain enoyl‐CoA hydratase‐1 deficiency F Al Mutairi, HE Shamseldin, M Alfadhel, RJ Rodenburg, FS Alkuraya Clinical Genetics 91 (4), 629-633, 2017 | 37 | 2017 |
Majid AlfadhelHead Genetics division, Department of Pediatrics, King Saud bin Abdulaziz University for Health在 ngha.med.sa 的电子邮件经过验证
