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Publications by Neal Sondheimer

Periodic Reanalysis of Whole-Genome Sequencing Data Enhances the Diagnostic Advantage Over Standard Clinical Genetic Testing

European Journal of Human Genetics
Genetics
2018English

Mutation in the Mitochondrial tRNAVal Causes Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-Like Episodes

Mitochondrion
Molecular MedicineCell BiologyMolecular Biology
2011English

Related publications

Prospective Whole-Genome Sequencing Enhances National Surveillance of Listeria Monocytogenes

Journal of Clinical Microbiology
Microbiology
2015English

Neonatologists’ Attitudes About Diagnostic Whole-Genome Sequencing in the NICU

Pediatrics
Child HealthPediatricsPerinatology
2019English

Repurposing of Diagnostic Whole Exome Sequencing Data of 1,583 Individuals for Clinical Pharmacogenetics

Clinical Pharmacology and Therapeutics
Pharmacology
2019English

Impact of DNA Source on Genetic Variant Detection From Human Whole-Genome Sequencing Data

Journal of Medical Genetics
Genetics
2019English

Clinical Use of Whole Genome Sequencing for Mycobacterium Tuberculosis

BMC Medicine
Medicine
2016English

Clinical Diagnostic Whole Genome Sequencing in a Paediatric Population: Experience From Our WGS Genetics Clinic

BMC Proceedings
BiochemistryMedicineGeneticsMolecular Biology
2012English

Analysis of Homozygosity Disequilibrium Using Whole-Genome Sequencing Data

BMC Proceedings
BiochemistryMedicineGeneticsMolecular Biology
2014English

Typing Methods Based on Whole Genome Sequencing Data

One Health Outlook
2020English

An Outbreak of Streptococcus Pyogenes in a Mental Health Facility: Advantage of Well-Timed Whole-Genome Sequencing Over Emm Typing

Infection Control and Hospital Epidemiology
EpidemiologyInfectious DiseasesMicrobiology
2018English

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