Stephen F Kingsmore

发表

Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.

Laurie D. Smith, Neil A. Miller, Carol J. Saunders, 2013, Genomics.

An integrated transcriptome and expressed variant analysis of sepsis survival and death

Lawrence Carin, Geoffrey S Ginsburg, Charles B Cairns, 2014, Genome Medicine.

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

Laurie D. Smith, Shannon L Carpenter, Greyson Twist, 2015, The Lancet. Respiratory medicine.

Disease progression in hemodynamically stable patients presenting to the emergency department with sepsis.

Charles B Cairns, Vance G Fowler, S. Kingsmore, 2010, Academic emergency medicine : official journal of the Society for Academic Emergency Medicine.

Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)

Naoki Oiso, Richard A Spritz, Edward P O'Brien, 2003, Nature Genetics.

Integrative "omic" analysis of experimental bacteremia identifies a metabolic signature that distinguishes human sepsis from systemic inflammatory response syndromes.

James Huntley, Rebecca M Baron, Anthony F Massaro, 2014, American journal of respiratory and critical care medicine.

Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing

Neil A. Miller, Carol J. Saunders, S. Kingsmore, 2011, Expert review of molecular diagnostics.

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

Zornitza Stark, Tiong Y Tan, Susan M White, 2018, npj Genomic Medicine.

A Host-Based RT-PCR Gene Expression Signature to Identify Acute Respiratory Viral Infection

Lawrence Carin, Geoffrey S Ginsburg, Alfred O Hero, 2013, Science Translational Medicine.

Unbiased whole-genome amplification directly from clinical samples.

Roger S Lasken, Xiaohong Wu, S. Kingsmore, 2003, Genome research.

The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin–Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections

Shimul Chowdhury, David P Dimmock, S. Kingsmore, 2018, Cold Spring Harbor molecular case studies.

Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage

Shimul Chowdhury, Kiely N. James, S. Kingsmore, 2018, Cold Spring Harbor molecular case studies.

Clinical detection of deletion structural variants in whole-genome sequences

Byunggil Yoo, Laurie D. Smith, Julie Cakici, 2016, npj Genomic Medicine.

Measuring proteins on microarrays.

Barry Schweitzer, S. Kingsmore, B. Schweitzer, 2002, Current opinion in biotechnology.

Concomitant diagnosis of immune deficiency and Pseudomonas sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencing

Serge Batalov, S. Kingsmore, M. Bainbridge, 2018, Cold Spring Harbor molecular case studies.

Multiplexed protein profiling on antibody-based microarrays by rolling circle amplification.

S. Kingsmore, D. Patel, Stephen F Kingsmore, 2003, Current opinion in biotechnology.

Unsupervised Analysis of Transcriptomics in Bacterial Sepsis Across Multiple Datasets Reveals Three Robust Clusters

Purvesh Khatri, Larsson Omberg, Marshall Nichols, 2018, Critical care medicine.

A community approach to mortality prediction in sepsis via gene expression analysis

Purvesh Khatri, Larsson Omberg, Marshall Nichols, 2018, Nature Communications.