| Whole Exome Sequencing Identifies Three Novel Mutations in the ASPM Gene From Saudi Families Leading to Primary Microcephaly MI Naseer, AA Abdulkareem, OY Muthaffar, S Sogaty, H Alkhatabi, ... Frontiers in pediatrics 8, 627122, 2021 | 25 | 2021 |
| Exome Analysis Identified Novel Homozygous Splice Site Donor Alteration in NT5C2 Gene in a Saudi Family Associated With Spastic Diplegia Cerebral Palsy … MI Naseer, AA Abdulkareem, PN Pushparaj, F Bibi, AG Chaudhary Frontiers in Genetics 11, 14, 2020 | 20 | 2020 |
| A novel homozygous mutation in SZT2 gene in Saudi family with developmental delay, macrocephaly and epilepsy MI Naseer, MK Alwasiyah, AA Abdulkareem, RA Bajammal, C Trujillo, ... Genes & Genomics 40, 1149-1155, 2018 | 19 | 2018 |
| Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis MI Naseer, AA Abdulkareem, FJ Guzmán-Vega, ST Arold, PN Pushparaj, ... Frontiers in genetics 11, 368, 2020 | 18 | 2020 |
| Identification of novel gene signatures using next-generation sequencing data from COVID-19 infection models: focus on neuro-COVID and potential therapeutics PN Pushparaj, AA Abdulkareem, MI Naseer Frontiers in pharmacology 12, 688227, 2021 | 16 | 2021 |
| A novel homozygous nonsense mutation in CCDC88A gene cause PEHO-like syndrome in consanguineous Saudi family AA Abdulkareem, KO Abulnaja, MM Jan, S Karim, M Rasool, SA Ansari, ... Neurological Sciences 40, 299-303, 2019 | 15 | 2019 |
| A very rare form of autosomal dominant progressive myoclonus epilepsy caused by a novel variant in the PRICKLE1 gene H Algahtani, F Al-Hakami, M Al-Shehri, B Shirah, MH Al-Qahtani, ... Seizure 69, 133-139, 2019 | 13 | 2019 |
| Next generation sequencing reveals novel homozygous frameshift in PUS7 and splice acceptor variants in AASS gene leading to intellectual disability, developmental delay … MI Naseer, AA Abdulkareem, MM Jan, AG Chaudhary, S Alharazy, ... Saudi journal of biological sciences 27 (11), 3125-3131, 2020 | 11 | 2020 |
| A novel variant in CWF19L1 gene in a family with late-onset autosomal recessive cerebellar ataxia 17 H Algahtani, B Shirah, S Almatrafi, MH Al-Qahtani, AA Abdulkareem, ... Neurological Research 43 (2), 141-147, 2021 | 10 | 2021 |
| A novel mutation in CACNA1A gene in a Saudi female with episodic ataxia type 2 with no response to acetazolamide or 4-aminopyridine H Algahtani, B Shirah, R Algahtani, MH Al-Qahtani, AA Abdulkareem, ... Intractable & Rare Diseases Research 8 (1), 67-71, 2019 | 10 | 2019 |
| Novel compound heterozygous mutations in MCPH1 gene causes primary microcephaly in Saudi family MI Naseer, M Rasool, AA Abdulkareem, RI Bassiouni, H Algahtani, ... Neurosciences Journal 23 (4), 346-350, 2018 | 10 | 2018 |
| Novel compound heterozygous mutations in WDR62 gene leading to developmental delay and Primary Microcephaly in Saudi Family MI Naseer, M Rasool, AA Abdulkareem, AG Chaudhary, SK Zaidi, ... Pakistan Journal of Medical Sciences 35 (3), 764, 2019 | 7 | 2019 |
| Primary microcephaly with novel variant of MCPH1 gene in twins: both manifesting in childhood at the same time with Hashimoto's thyroiditis P Pavone, XG Pappalardo, AD Praticò, A Polizzi, M Ruggieri, M Piccione, ... Journal of pediatric genetics 9 (03), 177-182, 2020 | 6 | 2020 |
| A novel heterozygous variant in exon 19 of notch3 in a saudi family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy H Algahtani, B Shirah, SY Alharbi, MH Al-Qahtani, AA Abdulkareem, ... Journal of Stroke and Cerebrovascular Diseases 29 (7), 104832, 2020 | 6 | 2020 |
| Ataxia with ocular apraxia type 2 not responding to 4-aminopyridine: A rare mutation in the SETX gene in a Saudi patient H Algahtani, B Shirah, R Algahtani, MI Naseer, MH Al-Qahtani, ... Intractable & Rare Diseases Research 7 (4), 275-279, 2018 | 6 | 2018 |
| Exome sequencing reveled a compound heterozygous mutations in RTTN gene causing developmental delay and primary microcephaly MI Naseer, AA Abdulkareem, OY Muthaffar, AG Chaudhary Saudi Journal of Biological Sciences 28 (5), 2824-2829, 2021 | 5 | 2021 |
| Whole-Exome Sequencing Reveals a Missense Variant c.1612C>T (p.Arg538Cys) in the BTD Gene Leading to Neuromyelitis Optica Spectrum Disorder in Saudi … MI Naseer, PN Pushparaj, AA Abdulkareem, OY Muthaffar Frontiers in Pediatrics 9, 829251, 2022 | 4 | 2022 |
| A novel mutation in ATM gene in a Saudi female with ataxia telangiectasia H Algahtani, B Shirah, R Algahtani, MH Al-Qahtani, AA Abdulkareem, ... International Journal of Neuroscience 131 (2), 206-211, 2021 | 4 | 2021 |
| Autosomal recessive cerebellar ataxia with spasticity due to a rare mutation in GBA2 gene in a large consanguineous Saudi family H Algahtani, B Shirah, I Ullah, MH Al-Qahtani, AA Abdulkareem, ... Genes & Diseases 8 (1), 110-114, 2021 | 4 | 2021 |
| A Novel Intronic Variant in SLC2A1 Gene in a Saudi Patient with Myoclonic Epilepsy H Algahtani, B Shirah, A Albarakaty, MH Al-Qahtani, AA Abdulkareem, ... Journal of epilepsy research 10 (1), 40, 2020 | 4 | 2020 |
