JASPAR 2016: a major expansion and update of the open-access database of transcription factor binding profiles A Mathelier, O Fornes, DJ Arenillas, C Chen, G Denay, J Lee, W Shi, ... Nucleic acids research 44 (D1), D110-D115, 2016 | 1110 | 2016 |
Exome sequencing and the management of neurometabolic disorders M Tarailo-Graovac, C Shyr, CJ Ross, GA Horvath, R Salvarinova, XC Ye, ... New England Journal of Medicine 374 (23), 2246-2255, 2016 | 314 | 2016 |
FLAGS, frequently mutated genes in public exomes C Shyr, M Tarailo-Graovac, M Gottlieb, JJY Lee, C van Karnebeek, ... BMC medical genomics 7, 1-14, 2014 | 155 | 2014 |
Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism JJY Lee, WW Wasserman, GF Hoffmann, CDM Van Karnebeek, N Blau Genetics in medicine 20 (1), 151-158, 2018 | 82 | 2018 |
Germline de novo mutations in ATP1A1 cause renal hypomagnesemia, refractory seizures, and intellectual disability KP Schlingmann, S Bandulik, C Mammen, M Tarailo-Graovac, R Holm, ... The American Journal of Human Genetics 103 (5), 808-816, 2018 | 80 | 2018 |
Atypical cerebral palsy: genomics analysis enables precision medicine AM Matthews, I Blydt-Hansen, B Al-Jabri, J Andersen, M Tarailo-Graovac, ... Genetics in Medicine 21 (7), 1621-1628, 2019 | 53 | 2019 |
Extensive Cotransformation of Natural Variation into Chromosomes of Naturally Competent Haemophilus influenzae JC Mell, JY Lee, M Firme, S Sinha, RJ Redfield G3: Genes, Genomes, Genetics 4 (4), 717-731, 2014 | 50 | 2014 |
Metabolic evaluation of epilepsy: a diagnostic algorithm with focus on treatable conditions CDM Van Karnebeek, B Sayson, JJY Lee, LA Tseng, N Blau, GA Horvath, ... Frontiers in Neurology 9, 1016, 2018 | 43 | 2018 |
Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review E Graham, J Lee, M Price, M Tarailo-Graovac, A Matthews, U Engelke, ... Journal of Inherited Metabolic Disease 41, 435-445, 2018 | 43 | 2018 |
A scoping review of inborn errors of metabolism causing progressive intellectual and neurologic deterioration (PIND) HAG Warmerdam, EA Termeulen-Ferreira, LA Tseng, JY Lee, ... Frontiers in neurology 10, 483513, 2020 | 21 | 2020 |
Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy JJY Lee, CDM van Karnebeek, B Drögemoller, C Shyr, M Tarailo-Graovac, ... Child neurology open 3, 2329048X16669912, 2016 | 17 | 2016 |
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy KM Riedhammer, S Stockler, R Ploski, M Wenzel, B Adis-Dutschmann, ... Brain 144 (2), 411-419, 2021 | 13 | 2021 |
P4 medicine for epilepsy and intellectual disability: nutritional therapy for inherited metabolic disease LA Tseng, C Sowerbutt, JJY Lee, CDM van Karnebeek Emerging Topics in Life Sciences 3 (1), 75-95, 2019 | 6 | 2019 |
Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects CD van Karnebeek, I Blydt-Hansen, AM Matthews, V Avramovic, M Price, ... neurogenetics 22 (4), 251-262, 2021 | 4 | 2021 |
Text‐based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics‐based diagnosis JJY Lee, MM Gottlieb, J Lever, SJM Jones, N Blau, CDM van Karnebeek, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2018 | 4 | 2018 |
Development and user evaluation of a rare disease gene prioritization workflow based on cognitive ergonomics JJY Lee, CDM van Karnebeek, WW Wasserman Journal of the American Medical Informatics Association 26 (2), 124-133, 2019 | 3 | 2019 |