| 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 | 116 | 2015 |
| Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases E Perenthaler, A Nikoncuk, S Yousefi, WM Berdowski, M Alsagob, I Capo, ... Acta neuropathologica 139, 415-442, 2020 | 54 | 2020 |
| Molecular and clinical spectra of FBXL4 deficiency AW El‐Hattab, H Dai, M Almannai, J Wang, EA Faqeih, A Al Asmari, ... Human mutation 38 (12), 1649-1659, 2017 | 45 | 2017 |
| Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking LE Sanderson, K Lanko, M Alsagob, R Almass, N Al-Ahmadi, M Najafi, ... Brain 144 (3), 769-780, 2021 | 36 | 2021 |
| Further delineation of the phenotypic spectrum of ISCA2 defect: a report of ten new cases M Alfadhel, M Nashabat, MT Alrifai, H Alshaalan, F Al Mutairi, ... European Journal of Paediatric Neurology 22 (1), 46-55, 2018 | 31 | 2018 |
| Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3 S Acar, HA BinEssa, K Demir, RA Al-Rijjal, M Zou, G Çatli, A Anık, ... PLoS One 13 (3), e0193388, 2018 | 30 | 2018 |
| KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability N Kaya, M Alsagob, MC D'Adamo, A Al-Bakheet, S Hasan, M Muccioli, ... Journal of medical genetics 53 (11), 786-792, 2016 | 25 | 2016 |
| Genetics of autism spectrum disorder: an update on copy number variations leading to autism in the next generation sequencing era M AlSagob, D Colak, N Kaya Discovery medicine 19 (106), 367-379, 2015 | 24 | 2015 |
| A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of … MA Al-Muhaizea, F AlMutairi, R Almass, S AlHarthi, MS Aldosary, ... The Cerebellum 17, 276-285, 2018 | 23 | 2018 |
| Genetic and phenotypic characterization of NKX6‐2‐related spastic ataxia and hypomyelination V Chelban, M Alsagob, K Kloth, A Chirita‐Emandi, J Vandrovcova, ... European journal of neurology 27 (2), 334-342, 2020 | 22 | 2020 |
| Rett syndrome, a neurodevelopmental disorder, whole-transcriptome, and mitochondrial genome multiomics analyses identify novel variations and disease pathways M Aldosary, AB Al-Bakheet, H Al-Dhalaan, R Almass, M Alsagob, ... OMICS: A Journal of Integrative Biology 24 (3), 160-171, 2020 | 21 | 2020 |
| Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities L Alrakaf, MA Al‐Owain, M Busehail, MA Alotaibi, D Monies, ... American Journal of Medical Genetics Part A 176 (3), 715-721, 2018 | 11 | 2018 |
| Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate … M Scala, SB Wortmann, N Kaya, MD Stellingwerff, A Pistorio, E Glamuzina, ... Human mutation 43 (3), 403-419, 2022 | 9 | 2022 |
| AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model R Deng, E Medico-Salsench, A Nikoncuk, R Ramakrishnan, K Lanko, ... Acta Neuropathologica 146 (2), 353-368, 2023 | 8 | 2023 |
| SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion M Aldosary, S Baselm, M Abdulrahim, R Almass, M Alsagob, Z AlMasseri, ... JIMD reports 60 (1), 75-87, 2021 | 7 | 2021 |
| Identification of novel genomic imbalances in Saudi patients with congenital heart disease ZN Al-Hassnan, W Albawardi, F Almutairi, R AlMass, A AlBakheet, ... Molecular cytogenetics 11, 1-11, 2018 | 7 | 2018 |
| First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: Additional data to 15q13. 3 syndrome with a report of high IQ patient M Alsagob, MA Salih, MHA Hamad, Y Al-Yafee, J Al-Zahrani, ... Molecular Cytogenetics 12, 1-6, 2019 | 5 | 2019 |
| A molecular study of pediatric pilomyxoid and pilocytic astrocytomas: Genome-wide copy number screening, retrospective analysis of clinicopathological features and long-term … E AlShail, AN Alahmari, AAM Dababo, M Alsagob, H Al-Hindi, H Khalil, ... Frontiers in Oncology 13, 1034292, 2023 | 4 | 2023 |
| Genetics of ataxia telangiectasia in a highly consanguineous population MA Al‐Muhaizea, H Aldeeb, R Almass, H Jaber, F Binhumaid, L Alquait, ... Annals of Human Genetics 86 (1), 34-44, 2022 | 4 | 2022 |
| Exome Sequencing Reveals Novel TTN Variants in Saudi Patients with Congenital Titinopathies MA Salih, MH Hamad, M Savarese, IA Alorainy, AS Al-Jarallah, ... Genetic Testing and Molecular Biomarkers 25 (12), 757-764, 2021 | 4 | 2021 |
Namik KayaKing Faisal Specialist Hospital and Research Center在 kfshrc.edu.sa 的电子邮件经过验证
Namik KayaKing Faisal Specialist Hospital and Research Center在 kfshrc.edu.sa 的电子邮件经过验证