Jessica J.Y. Lee
Jessica J.Y. Lee
BC Children's Hospital Research Institute, University of British Columbia
Geverifieerd e-mailadres voor interchange.ubc.ca
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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
8522016
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
2092016
FLAGS, frequently mutated genes in public exomes
C Shyr, M Tarailo-Graovac, M Gottlieb, JJY Lee, C van Karnebeek, ...
BMC medical genomics 7 (1), 1-14, 2014
692014
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
332014
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
262018
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 (3), 435-445, 2018
182018
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
172018
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
162018
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
112016
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, 2019
102019
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
22019
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 41 (3), 555-562, 2018
22018
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
2019
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