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Multiplexed protein measurement: technologies and applications of protein and antibody arrays

Nature reviews. Drug discovery, 2006-04, Vol.5 (4), p.310-321

Kingsmore, Stephen F

2006

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Newborn testing and screening by whole-genome sequencing

Genetics in medicine, 2016-03, Vol.18 (3), p.214-216

Kingsmore, Stephen F.

2016

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A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants

American journal of human genetics, 2020-11, Vol.107 (5), p.953-962

2020

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Alternative isoform regulation in human tissue transcriptomes

Nature, 2008-11, Vol.456 (7221), p.470-476

2008

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A host transcriptional signature for presymptomatic detection of infection in humans exposed to influenza H1N1 or H3N2

PloS one, 2013-01, Vol.8 (1), p.e52198-e52198

2013

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Rapid whole genome sequencing and precision neonatology

Seminars in perinatology, 2015-12, Vol.39 (8), p.623-631

2015

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Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization

Npj genomic medicine, 2018-04, Vol.3 (1), p.10-8, Article 10

2018

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The Genomic landscape of short tandem repeats across multiple ancestries

PloS one, 2023-01, Vol.18 (1), p.e0279430-e0279430

2023

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Carrier testing for severe childhood recessive diseases by next-generation sequencing

Science translational medicine, 2011-01, Vol.3 (65), p.65ra4

2011

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Host gene expression classifiers diagnose acute respiratory illness etiology

Science translational medicine, 2016-01, Vol.8 (322), p.322ra11

2016

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CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria

American journal of human genetics, 2015-02, Vol.96 (2), p.258-265

2015

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Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

Genome medicine, 2021-10, Vol.13 (1), p.153-153, Article 153

2021

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Dispatches from Biotech beginning BeginNGS: Rapid newborn genome sequencing to end the diagnostic and therapeutic odyssey

American journal of medical genetics. Part C, Seminars in medical genetics, 2022-06, Vol.190 (2), p.243-256

Kingsmore, Stephen F.

2022

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Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review

Npj genomic medicine, 2024-02, Vol.9 (1), p.17-14, Article 17

2024

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Genome Sequencing and Mapping Reveal Loss of Heterozygosity as a Mechanism for Rapid Adaptation in the Vegetable Pathogen Phytophthora capsici

Molecular plant-microbe interactions, 2012-10, Vol.25 (10), p.1350-1360

2012

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A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization

The Journal of general physiology, 2015-11, Vol.146 (5), p.399-410

2015

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A host-based RT-PCR gene expression signature to identify acute respiratory viral infection

Science translational medicine, 2013-09, Vol.5 (203), p.203ra126

2013

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Integrative genetic, genomic and transcriptomic analysis of heat shock protein and nuclear hormone receptor gene associations with spontaneous preterm birth

Scientific reports, 2021-08, Vol.11 (1), p.17115-17115, Article 17115

2021

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Comprehensive Human Genome Amplification Using Multiple Displacement Amplification

Proceedings of the National Academy of Sciences - PNAS, 2002-04, Vol.99 (8), p.5261-5266

2002

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Is Rapid Exome Sequencing Standard of Care in the Neonatal and Pediatric Intensive Care Units?

The Journal of pediatrics, 2020-11, Vol.226, p.14-15

Kingsmore, Stephen F.

2020

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Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning

Genome medicine, 2023-03, Vol.15 (1), p.18-18, Article 18

2023

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Whole genome sequencing of an African American family highlights toll like receptor 6 variants in Kawasaki disease susceptibility

PloS one, 2017-02, Vol.12 (2), p.e0170977-e0170977

2017

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Unbiased whole-genome amplification directly from clinical samples

Genome research, 2003-05, Vol.13 (5), p.954-964

2003

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Multiplexed protein measurement: technologies and applications of protein and antibody arrays

Newborn testing and screening by whole-genome sequencing

A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants

Alternative isoform regulation in human tissue transcriptomes

A host transcriptional signature for presymptomatic detection of infection in humans exposed to influenza H1N1 or H3N2

Rapid whole genome sequencing and precision neonatology

Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization

The Genomic landscape of short tandem repeats across multiple ancestries

Carrier testing for severe childhood recessive diseases by next-generation sequencing

Host gene expression classifiers diagnose acute respiratory illness etiology

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

Dispatches from Biotech beginning BeginNGS: Rapid newborn genome sequencing to end the diagnostic and therapeutic odyssey

Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates

Genome Sequencing and Mapping Reveal Loss of Heterozygosity as a Mechanism for Rapid Adaptation in the Vegetable Pathogen Phytophthora capsici

A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization

A host-based RT-PCR gene expression signature to identify acute respiratory viral infection

Integrative genetic, genomic and transcriptomic analysis of heat shock protein and nuclear hormone receptor gene associations with spontaneous preterm birth

Comprehensive Human Genome Amplification Using Multiple Displacement Amplification

Is Rapid Exome Sequencing Standard of Care in the Neonatal and Pediatric Intensive Care Units?

Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning

Whole genome sequencing of an African American family highlights toll like receptor 6 variants in Kawasaki disease susceptibility

Unbiased whole-genome amplification directly from clinical samples

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