Maple syrup urine disease: mechanisms and management
2017 · The Application of Clinical Genetics · 255 citations
https://doi.org/10.2147/tacg.s125962
E
Eric W. Klee
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Eric W. Klee is an academic researcher from MACOM (United States). The author has contributed to research in topics: Genomics and Rare Diseases & Cancer Genomics and Diagnostics & Genetics and Neurodevelopmental Disorders. The author has an h-index of 54, co-authored 388 publications.
ORCID: 0000-0003-2946-5795Papers by this author
worksAMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
2019 · Nature Communications · 242 citations
https://doi.org/10.1038/s41467-019-10910-w
3' tag digital gene expression profiling of human brain and universal reference RNA using Illumina Genome Analyzer
2009 · BMC Genomics · 160 citations
https://doi.org/10.1186/1471-2164-10-531
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease
2020 · npj Genomic Medicine · 147 citations
https://doi.org/10.1038/s41525-020-00154-9
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
2019 · Journal of Clinical Investigation · 101 citations
https://doi.org/10.1172/jci123959
Evaluating eukaryotic secreted protein prediction
2005 · BMC Bioinformatics · 78 citations
https://doi.org/10.1186/1471-2105-6-256
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