| Amino acid disorders E Aliu, S Kanungo, GL Arnold Annals of translational medicine 6 (24), 2018 | 139 | 2018 |
| Prospective pilot study of a single daily dosage of trientine for the treatment of Wilson disease A Ala, E Aliu, ML Schilsky Digestive diseases and sciences 60, 1433-1439, 2015 | 64 | 2015 |
| Genetic testing to inform epilepsy treatment management from an international study of clinical practice D McKnight, A Morales, KE Hatchell, SL Bristow, JL Bonkowsky, MS Perry, ... JAMA neurology 79 (12), 1267-1276, 2022 | 52 | 2022 |
| The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder D Rots, TE Jakub, C Keung, A Jackson, S Banka, R Pfundt, BBA de Vries, ... The American Journal of Human Genetics 110 (6), 963-978, 2023 | 11 | 2023 |
| Pitt Hopkins-like syndrome 1 with novel CNTNAP2 mutation in siblings R Mittal, A Kumar, R Ladda, G Mainali, E Aliu Child Neurology Open 8, 2329048X211055330, 2021 | 11 | 2021 |
| Case report of atypical Leigh syndrome in an adolescent male with novel biallelic variants in NDUFAF5 and review of the natural history of NDUFAF5‐related … NR Legro, A Kumar, E Aliu American Journal of Medical Genetics Part A 188 (3), 896-899, 2022 | 8 | 2022 |
| Acute Necrotizing Encephalopathy: 2 Case Reports on RANBP2 Mutation M Hartley, A Sinha, A Kumar, E Aliu, G Mainali, S Paudel Child Neurology Open 8, 2329048X211030751, 2021 | 7 | 2021 |
| Synthetic mRNA rescues very long-chain acyl-CoA dehydrogenase deficiency in patient fibroblasts and a murine model XJ Zhao, AIW Mohsen, S Mihalik, K Solo, E Aliu, H Shi, S Basu, ... Molecular genetics and metabolism 138 (1), 106982, 2023 | 5 | 2023 |
| ERI1: A case report of an autosomal recessive syndrome associated with developmental delay and distal limb abnormalities V Hoxha, E Aliu American Journal of Medical Genetics Part A 191 (1), 64-69, 2023 | 3 | 2023 |
| Messenger RNA rescues medium-chain acyl-CoA dehydrogenase deficiency in fibroblasts from patients and a murine model XJ Zhao, AW Mohsen, S Mihalik, K Solo, S Basu, E Aliu, H Shi, ... Human molecular genetics 32 (14), 2347-2356, 2023 | 2 | 2023 |
| A Novel Homozygous Variant in the CHRNE Gene in 2 Siblings with Congenital Myasthenic Syndrome C Chan, L Emery, C Maltese, A Kumar, E Aliu, S Naik, D Paul Child Neurology Open 10, 2329048X231216432, 2023 | 1 | 2023 |
| A Case of Autosomal Recessive Intellectual Developmental Disorder Type 5 Presenting with Epilepsy M Hasan, G Mainali, E Aliu, S Paudel Case Reports in Genetics 2022 (1), 4056780, 2022 | 1 | 2022 |
| Arterial Tortuosity Syndrome: Keys to Early Diagnosis and Report of a New Mutation RD Tunks, K Miranda, G Hackett, E Aliu CASE, 2024 | | 2024 |
| A Case of DYNC1H1-related Disorder with Klinefelter Syndrome (P2-11.018) R LaRosa, C Wruck, A Kumar, SE Wright, M Yelton, E Aliu, D Paul Neurology 102 (17_supplement_1), 3269, 2024 | | 2024 |
| P320: When to consider genetic testing in infants with hip dysplasia T Peck, E Fafoutis, S Rzucidlo, E Aliu, P Gordon Genetics in Medicine Open 2, 2024 | | 2024 |
| P410: Think beyond a unifying diagnosis: A case of dual diagnoses of Klinefelter syndrome and DYNC1H1-related disorder E Fafoutis, T Peck, E Aliu, S Rzucidlo, M Yelton, P Gordon Genetics in Medicine Open 2, 2024 | | 2024 |
| Ocular manifestations in a 2 year-old patient with a DYNC1H1 mutation R Kenney, R Borkhetaria, A Soni, E Aliu, A Ely Ophthalmic Genetics 44 (6), 568-571, 2023 | | 2023 |
| Comprehensive Clinical and Neuroimaging Review of Posterior Fossa Hemorrhage in Preterm and Term Newborns M Hsu, Z Zhu, S Islam, RJ Chang, N Hammad, KC Bonda, E Aliu, ... Journal of Pediatric Neurology, 2023 | | 2023 |
| A Novel Homozygous Variant in the CHRNE Gene in 2 Siblings with Congenital Myasthenic Syndrome (P9-9.009) C Chan, L Emery, E Aliu, S Naik, D Paul, A Kumar Neurology 100 (17_supplement_2), 1798, 2023 | | 2023 |
| Case Report A Case of Congenital Hypotonia and Developmental Delay in an Individual with a De Novo Variant Outside of the Canonical HX-Motif of ATN1 E Makarova, NR Legro, E Aliu | | 2023 |
