| Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability Y Liu, J Schubert, L Sonnenberg, KL Helbig, CE Hoei-Hansen, M Koko, ... Brain 142 (2), 376-390, 2019 | 106 | 2019 |
| Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications KM Johannesen, Y Liu, M Koko, CE Gjerulfsen, L Sonnenberg, J Schubert, ... Brain 145 (9), 2991-3009, 2022 | 84 | 2022 |
| A novel nonsense mutation in DNAJC6 expands the phenotype of autosomal-recessive juvenile-onset Parkinson’s disease LE Elsayed, V Drouet, T Usenko, IN Mohammed, AA Hamed, MA Elseed, ... Ann Neurol 79 (2), 335-337, 2016 | 79 | 2016 |
| KCNC1‐related disorders: new de novo variants expand the phenotypic spectrum J Park, M Koko, UBS Hedrich, A Hermann, K Cremer, E Haberlandt, ... Annals of clinical and translational neurology 6 (7), 1319-1326, 2019 | 48 | 2019 |
| Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan LEO Elsayed, IN Mohammed, AAA Hamed, MA Elseed, A Johnson, ... European Journal of Human Genetics 25 (1), 100-110, 2017 | 38 | 2017 |
| Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy PK Ahring, VWY Liao, E Gardella, KM Johannesen, I Krey, KK Selmer, ... Brain 145 (4), 1299-1309, 2022 | 37 | 2022 |
| Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556 ES Cauley, A Hamed, IN Mohamed, M Elseed, S Martinez, A Yahia, ... Neurogenetics 20, 91-98, 2019 | 21 | 2019 |
| Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate … A Yahia, L Elsayed, A Babai, MA Salih, SM El-Sadig, M Amin, M Koko, ... BMC neurology 18, 1-6, 2018 | 19 | 2018 |
| Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data M Koko, MOE Abdallah, M Amin, M Ibrahim BMC genomics 19, 1-8, 2018 | 18 | 2018 |
| KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating Y Zhang, G Tachtsidis, C Schob, M Koko, UBS Hedrich, H Lerche, ... Human molecular genetics 30 (23), 2300-2314, 2021 | 16 | 2021 |
| Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies J Krüger, J Schubert, J Kegele, A Labalme, M Mao, J Heighway, ... EBioMedicine 84, 2022 | 15 | 2022 |
| Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family LEO Elsayed, IN Mohammed, AAA Hamed, MA Elseed, MAM Salih, ... BMC medical genetics 19, 1-5, 2018 | 15 | 2018 |
| EBV associated breast cancer whole methylome analysis reveals viral and developmental enriched pathways MOE Abdallah, UK Algizouli, MA Suliman, RA Abdulrahman, M Koko, ... Frontiers in oncology 8, 316, 2018 | 15 | 2018 |
| Exome sequencing of a colorectal cancer family reveals shared mutation pattern and predisposition circuitry along tumor pathways SH Suleiman, ME Koko, WH Nasir, O Elfateh, UK Elgizouli, MOE Abdallah, ... Frontiers in genetics 6, 288, 2015 | 14 | 2015 |
| Association of ultra‐rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study M Koko, JE Motelow, KE Stanley, DR Bobbili, RS Dhindsa, P May, ... Epilepsia 63 (3), 723-735, 2022 | 11 | 2022 |
| A SCN8A variant associated with severe early onset epilepsy and developmental delay: Loss-or gain-of-function? Y Liu, M Koko, H Lerche Epilepsy research 178, 106824, 2021 | 10 | 2021 |
| Distinct gene-set burden patterns underlie common generalized and focal epilepsies M Koko, R Krause, T Sander, DR Bobbili, M Nothnagel, P May, H Lerche, ... EBioMedicine 72, 2021 | 10 | 2021 |
| Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family LEO Elsayed, IN Mohammed, AAA Hamed, MA Elseed, MAM Salih, ... Frontiers in neurology 11, 569996, 2020 | 10 | 2020 |
| Rare variant in LAMA2 gene causing congenital muscular dystrophy in a Sudanese family. A case report M Amin, Y BAkHIT, M KOkO, MOM Ibrahim, MA Salih, M Ibrahim, OA Seidi Acta Myologica 38 (1), 21, 2019 | 10 | 2019 |
| Novel variants causing megalencephalic leukodystrophy in Sudanese families M Amin, C Vignal, AAA Hamed, IN Mohammed, MA Elseed, S Drunat, ... Journal of Human Genetics 67 (3), 127-132, 2022 | 8 | 2022 |
