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Angela L. Jones

National Institutes of Health

32

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Links to output generated by the ASAP pipeline.

2020 PLOS ONE
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Summary of non-drug resistance associated mutations detected in pncA gene of DNA isolated from direct AFB smears from Ghana, Kenya, Uganda, and Zambia.

2020 PLOS ONE
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Summary of drug resistance associated mutations detected in direct AFB smears by case status and drug type.

2020 PLOS ONE
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Detection of Drug Resistant Mycobacterium Tuberculosis by High-Throughput Sequencing of DNA Isolated From Acid Fast Bacilli Smears

2020 PLOS ONE
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Description of bioinformatics pipeline.

2020 PLOS ONE
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Percent of scanty smears with interpretable results overall and per target gene segment (A) and median number of mapped reads per target gene segment for scanty smears (B).

2020 PLOS ONE
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Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

2019 American Journal of Human Genetics
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Partial loss of USP9X function leads to a male neurodevelopmental and behavioural disorder converging on TGFβ signalling

2019 Biological Psychiatry
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Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

2019 American Journal of Human Genetics
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De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

2019 American Journal of Human Genetics
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