| WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects K Yokote, S Chanprasert, L Lee, K Eirich, M Takemoto, A Watanabe, ... Human mutation 38 (1), 7-15, 2017 | 106 | 2017 |
| Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation AW El-Hattab, LT Emrick, JW Hsu, S Chanprasert, M Almannai, ... Molecular genetics and metabolism 117 (4), 407-412, 2016 | 81 | 2016 |
| Mitochondria: role of citrulline and arginine supplementation in MELAS syndrome AW El-Hattab, LT Emrick, S Chanprasert, WJ Craigen, F Scaglia The international journal of biochemistry & cell biology 48, 85-91, 2014 | 58 | 2014 |
| Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene S Chanprasert, J Wang, SW Weng, GM Enns, DR Boué, BL Wong, ... Molecular genetics and metabolism 110 (1-2), 153-161, 2013 | 53 | 2013 |
| De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation D Mao, CM Reuter, MRZ Ruzhnikov, AE Beck, EG Farrow, LT Emrick, ... The American Journal of Human Genetics 106 (4), 570-583, 2020 | 45 | 2020 |
| Glucose metabolism derangements in adults with the MELAS m. 3243A> G mutation AW El-Hattab, LT Emrick, JW Hsu, S Chanprasert, F Jahoor, F Scaglia, ... Mitochondrion 18, 63-69, 2014 | 43 | 2014 |
| Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science K Schoch, C Esteves, A Bican, R Spillmann, H Cope, A McConkie-Rosell, ... Genetics in medicine 23 (2), 259-271, 2021 | 31 | 2021 |
| Adult liver disorders caused by inborn errors of metabolism: review and update S Chanprasert, F Scaglia Molecular genetics and metabolism 114 (1), 1-10, 2015 | 31 | 2015 |
| Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder PE Schneeberger, F Kortüm, GC Korenke, M Alawi, R Santer, M Woidy, ... Brain 143 (8), 2437-2453, 2020 | 30 | 2020 |
| Novel missense variants in ADAT3 as a cause of syndromic intellectual disability E Thomas, AM Lewis, Y Yang, S Chanprasert, L Potocki, DA Scott Journal of Pediatric Genetics 8 (04), 244-251, 2019 | 17 | 2019 |
| Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature DL Johnstone, TTM Nguyen, J Zambonin, KD Kernohan, A St‐Denis, ... Journal of inherited metabolic disease 43 (6), 1321-1332, 2020 | 16 | 2020 |
| Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey H Cope, H Barseghyan, S Bhattacharya, Y Fu, N Hoppman, C Marcou, ... Molecular genetics & genomic medicine 9 (7), e1665, 2021 | 15 | 2021 |
| A large number of cerebral microbleeds in CADASIL patients presenting with recurrent seizures: a case report C Anamnart, D Songsaeng, S Chanprasert BMC neurology 19, 1-4, 2019 | 15 | 2019 |
| Thai patients who fulfilled NCCN criteria for breast/ovarian cancer genetic assessment demonstrated high prevalence of germline mutations in cancer susceptibility genes … P Lertwilaiwittaya, E Roothumnong, P Nakthong, P Dungort, ... Breast Cancer Research and Treatment 188, 237-248, 2021 | 14 | 2021 |
| Bi-allelic variants in INTS11 are associated with a complex neurological disorder B Tepe, EL Macke, M Niceta, MW Hubshman, O Kanca, L Schultz-Rogers, ... The American Journal of Human Genetics 110 (5), 774-789, 2023 | 12 | 2023 |
| A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy LC Briere, MA Walker, FA High, C Cooper, CA Rogers, CJ Callahan, ... Molecular Case Studies 7 (3), a005827, 2021 | 12 | 2021 |
| TK2-related mitochondrial DNA depletion syndrome, myopathic form S Chanprasert, F Scaglia Mitochondrial Case Studies: Underlying Mechanisms and Diagnosis, 207-13, 2015 | 12 | 2015 |
| DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature LE Meissner, EF Macnamara, P D'Souza, J Yang, G Vezina, ... Molecular genetics & genomic medicine 8 (12), e1544, 2020 | 11 | 2020 |
| Cognitive characteristics of mitochondrial diseases in children H Shurtleff, D Barry, S Chanprasert, T Firman, M Warner, RP Saneto Epilepsy & Behavior 88, 235-243, 2018 | 11 | 2018 |
| PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy S Panneerselvam, J Wang, W Zhu, H Dai, JG Pappas, R Rabin, KJ Low, ... Clinical genetics 100 (2), 227-233, 2021 | 7 | 2021 |
