Katherine Brenda Xiong
Clinical Assistant Professor, Neurology
Clinical Focus
- Epilepsy
Academic Appointments
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Clinical Assistant Professor, Neurology
Professional Education
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Fellowship: Stanford University Pediatric Epilepsy Fellowship (2024) CA
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Board Certification: American Board of Psychiatry and Neurology, Neurology with Special Qualifications in Child Neurology (2023)
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Residency: Stanford University Child Neurology Residency (2023) CA
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Residency: Stanford University Dept of Pediatrics (2020) CA
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Medical Education: UT Southwestern (2018) TX
All Publications
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Asymmetric Crying Facies in Newborns and Infants
JOURNAL OF PEDIATRICS
2022; 246: 234
View details for Web of Science ID 000814869400040
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50 Years Ago in TheJournalofPediatrics: Asymmetric Crying Facies in Newborns and Infants.
The Journal of pediatrics
2022; 246: 234
View details for DOI 10.1016/j.jpeds.2022.04.042
View details for PubMedID 35750392
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Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing.
Nature biotechnology
2022
Abstract
Whole-genome sequencing (WGS) can identify variants that cause genetic disease, but the time required for sequencing and analysis has been a barrier to its use in acutely ill patients. In the present study, we develop an approach for ultra-rapid nanopore WGS that combines an optimized sample preparation protocol, distributing sequencing over 48 flow cells, near real-time base calling and alignment, accelerated variant calling and fast variant filtration for efficient manual review. Application to two example clinical cases identified a candidate variant in <8 h from sample preparation to variant identification. We show that this framework provides accurate variant calls and efficient prioritization, and accelerates diagnostic clinical genome sequencing twofold compared with previous approaches.
View details for DOI 10.1038/s41587-022-01221-5
View details for PubMedID 35347328
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Ultra-Rapid Nanopore Whole Genome Genetic Diagnosis of Dilated Cardiomyopathy in an Adolescent With Cardiogenic Shock.
Circulation. Genomic and precision medicine
2022: CIRCGEN121003591
View details for DOI 10.1161/CIRCGEN.121.003591
View details for PubMedID 35133172
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Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting.
The New England journal of medicine
2022
View details for DOI 10.1056/NEJMc2112090
View details for PubMedID 35020984