| Current practice in diagnostic genetic testing of the epilepsies I Krey, K Platzer, A Esterhuizen, SF Berkovic, I Helbig, MS Hildebrand, ... Epileptic Disorders 24 (5), 765-786, 2022 | 60 | 2022 |
| Clinical application of epilepsy genetics in Africa: is now the time? AI Esterhuizen, GL Carvill, RS Ramesar, SM Kariuki, CR Newton, ... Frontiers in neurology 9, 276, 2018 | 29 | 2018 |
| Dravet syndrome in South African infants: Tools for an early diagnosis AI Esterhuizen, HC Mefford, RS Ramesar, S Wang, GL Carvill, ... Seizure 62, 99-105, 2018 | 25 | 2018 |
| C9orf72 repeat expansions in South Africans with amyotrophic lateral sclerosis M Nel, GM Agenbag, F Henning, HM Cross, A Esterhuizen, JM Heckmann Journal of the neurological sciences 401, 51-54, 2019 | 22 | 2019 |
| Noonan syndrome in South Africa: Clinical and molecular profiles C Tekendo-Ngongang, G Agenbag, CD Bope, AI Esterhuizen, A Wonkam Frontiers in genetics 10, 333, 2019 | 19 | 2019 |
| Bardet Biedl syndrome in South Africa: a single founder mutation: the new millennium K Fieggen, C Milligan, AI Esterhuizen, B Henderson South African Medical Journal 106 (sup-1), 72-74, 2016 | 14 | 2016 |
| Cascade testing for fragile X syndrome in a rural setting in Cameroon (sub-Saharan Africa) K Kengne Kamga, S Nguefack, K Minka, E Wonkam Tingang, ... Genes 11 (2), 136, 2020 | 12 | 2020 |
| DMD‐related muscular dystrophy in Cameroon: Clinical and genetic profiles E Wonkam‐Tingang, S Nguefack, AI Esterhuizen, D Chelo, A Wonkam Molecular genetics & genomic medicine 8 (8), e1362, 2020 | 10 | 2020 |
| Duchenne muscular dystrophy in the Western Cape, South Africa: where do we come from and where are we going?: the new millennium AI Esterhuizen, LJ Greenberg, R Ballo, RG Goliath, JM Wilmshurst South African Medical Journal 106 (sup-1), 67-71, 2016 | 8 | 2016 |
| Duchenne muscular dystrophy: High-resolution melting curve analysis as an affordable diagnostic mutation scanning tool in a South African cohort AI Esterhuizen, JM Wilmshurst, RG Goliath, LJ Greenberg South African Medical Journal 104 (11), 779-784, 2014 | 8 | 2014 |
| Renal dysfunction, rod‐cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B L Roberts, S Julius, S Dawlat, S Yildiz, G Rebello, S Meldau, K Pillay, ... Human Mutation 41 (11), 1871-1876, 2020 | 7 | 2020 |
| Skin cells for use in an alternate diagnostic method for Duchenne muscular dystrophy L Tyers, LM Davids, JM Wilmshurst, AI Esterhuizen Neuromuscular Disorders 28 (7), 553-563, 2018 | 6 | 2018 |
| ILAE Genetic Literacy Series: Self‐limited familial epilepsy syndromes with onset in neonatal age and infancy C Millevert, S Weckhuysen, Ilae Genetics Commission, P Perucca, ... Epileptic Disorders 25 (4), 445-453, 2023 | 5 | 2023 |
| Precision medicine for developmental and epileptic encephalopathies in Africa—strategies for a resource-limited setting AI Esterhuizen, N Tiffin, G Riordan, M Wessels, RJ Burman, MC Aziz, ... Genetics in Medicine 25 (2), 100333, 2023 | 5 | 2023 |
| Caution regarding the interpretation of homoallelism in polyglutamine multiplex assays: a recommendation for confirmatory testing of homozygous alleles DC Smith, A Esterhuizen, J Greenberg The Journal of Molecular Diagnostics 15 (5), 706-709, 2013 | 5 | 2013 |
| ILAE Genetics Literacy series: Progressive myoclonus epilepsies JM Cameron, CA Ellis, SF Berkovic, ILAE Genetics Commission, ... Epileptic Disorders 25 (5), 670-680, 2023 | 2 | 2023 |
| Delineation of the genetic causes of epileptic encephalopathy in South African paediatric patients A Esterhuizen, R Ramesar, H Mefford, J Wilmshurst, G Carvill Epilepsia 58, S112-S112, 2017 | 2 | 2017 |
| Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase AG Jones, M Aquilino, RJ Tinker, L Duncan, Z Jenkins, GL Carvill, ... The American Journal of Human Genetics 111 (4), 729-741, 2024 | 1 | 2024 |
| ILAE Genetic Literacy Series: Postmortem Genetic Testing in Sudden Unexpected Death in Epilepsy RD Bagnall, P Perucca, ILAE Genetics Commission, JH Cross, H Lerche, ... Epileptic Disorders 25 (4), 472-479, 2023 | 1 | 2023 |
| Duchenne muscular dystrophy: mutation profiling in view of the emerging gene-based therapies A Esterhuizen | 1 | 2010 |
