| 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 | 452 | 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 | 265 | 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 | 244 | 2019 |
| 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 | 230 | 2017 |
| Parental attitudes and hesitancy about COVID-19 vs. routine childhood vaccinations: a national survey MH Temsah, AN Alhuzaimi, F Aljamaan, F Bahkali, A Al-Eyadhy, ... Frontiers in public health 9, 752323, 2021 | 151 | 2021 |
| Characterizing the morbid genome of ciliopathies R Shaheen, K Szymanska, B Basu, N Patel, N Ewida, E Faqeih, ... Genome biology 17, 1-11, 2016 | 151 | 2016 |
| 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 | 147 | 2013 |
| Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go T Dangouloff, E Vrščaj, L Servais, D Osredkar, T Adoukonou, O Aryani, ... Neuromuscular Disorders 31 (6), 574-582, 2021 | 142 | 2021 |
| 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 | 139 | 2015 |
| 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 | 104 | 2019 |
| SLC25A22 is a novel gene for migrating partial seizures in infancy A Poduri, EL Heinzen, V Chitsazzadeh, FM Lasorsa, PC Elhosary, ... Annals of neurology 74 (6), 873-882, 2013 | 103 | 2013 |
| JAK inhibitor therapy in a child with inherited USP18 deficiency F Alsohime, M Martin-Fernandez, MH Temsah, M Alabdulhafid, ... New England Journal of Medicine 382 (3), 256-265, 2020 | 82 | 2020 |
| Satisfaction and perceived usefulness with newly-implemented Electronic Health Records System among pediatricians at a university hospital F Alsohime, MH Temsah, A Al-Eyadhy, FA Bashiri, M Househ, A Jamal, ... Computer methods and programs in biomedicine 169, 51-57, 2019 | 52 | 2019 |
| Mutations in NKX6-2 cause progressive spastic ataxia and hypomyelination V Chelban, N Patel, J Vandrovcova, MN Zanetti, DS Lynch, M Ryten, ... The American Journal of Human Genetics 100 (6), 969-977, 2017 | 52 | 2017 |
| Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy W Ramadan, N Patel, S Anazi, AY Kentab, FA Bashiri, MH Hamad, L Jad, ... Clinical genetics 92 (3), 327-331, 2017 | 49 | 2017 |
| Phenotypic and molecular spectrum of pyridoxamine‐5′‐phosphate oxidase deficiency: a scoping review of 87 cases of pyridoxamine‐5′‐phosphate oxidase deficiency M Alghamdi, FA Bashiri, M Abdelhakim, N Adly, DZ Jamjoom, KM Sumaily, ... Clinical Genetics 99 (1), 99-110, 2021 | 36 | 2021 |
| Idiopathic intracranial hypertension in children: diagnostic and management approach A Albakr, MH Hamad, AH Alwadei, FA Bashiri, HH Hassan, H Idris, ... Sudanese Journal of Paediatrics 16 (2), 67, 2016 | 31 | 2016 |
| Vitamin D supplementation to prevent vitamin D deficiency for children with epilepsy: Randomized pragmatic trial protocol R Al Khalifah, A Hudairi, D Al Homyani, MH Hamad, FA Bashiri Medicine 97 (40), e12734, 2018 | 28 | 2018 |
| ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita IS Abumansour, H Hijazi, A Alazmi, F Alzahrani, FA Bashiri, H Hassan, ... Human genetics 134, 815-822, 2015 | 27 | 2015 |
| Acute necrotizing encephalopathy of childhood: a multicenter experience in Saudi Arabia FA Bashiri, S Al Johani, MH Hamad, AY Kentab, AH Alwadei, K Hundallah, ... Frontiers in pediatrics 8, 526, 2020 | 25 | 2020 |
Mohamad-Hani TemsahProfessor of Pediatrics, Consultant Pediatric Intensivist, King Saud University, Riyadh在 ksu.edu.sa 的电子邮件经过验证
