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  1. Article

    Open Access

    Feasibility of functional precision medicine for guiding treatment of relapsed or refractory pediatric cancers

    Children with rare, relapsed or refractory cancers often face limited treatment options, and few predictive biomarkers are available that can enable personalized treatment recommendations. The implementation o...

    Arlet M. Acanda De La Rocha, Noah E. Berlow, Maggie Fader in Nature Medicine (2024)

  2. Article

    Open Access

    A Randomized Pilot Trial Assessing the Role of Human Fibrinogen Concentrate in Decreasing Cryoprecipitate Use and Blood Loss in Infants Undergoing Cardiopulmonary Bypass

    The objective of this study was to determine whether treatment with human fibrinogen concentrate decreases the need for component blood therapy and blood loss in neonate and infant patients undergoing cardiopu...

    Christopher F. Tirotta, Richard G. Lagueruela, Apeksha Gupta in Pediatric Cardiology (2022)

  3. No Access

    Article

    Real-world economic evaluation of prospective rapid whole-genome sequencing compared to a matched retrospective cohort of critically ill pediatric patients in the United States

    There is an increasing demand for supporting the adoption of rapid whole-genome sequencing (rWGS) by demonstrating its real-world value. We aimed to assess the cost-effectiveness of rWGS in critically ill pedi...

    Vakaramoko Diaby, Aram Babcock, Yushi Huang in The Pharmacogenomics Journal (2022)

  4. Article

    Open Access

    Pediatric pharmacogenomics: challenges and opportunities: on behalf of the Sanford Children’s Genomic Medicine Consortium

    The advent of digital, electronic, and molecular technologies has allowed the study of complete genomes. Integrating this information into drug development has opened the door for pharmacogenomic (PGx) interve...

    David Gregornik, Daria Salyakina, Marilyn Brown in The Pharmacogenomics Journal (2021)

  5. Article

    Open Access

    Three-year experience with immediate extubation in pediatric patients after congenital cardiac surgery

    In pediatric cardiac anesthesiology, there is increased focus on minimizing morbidity, ensuring optimal functional status, and using health care resources sparingly. One aspect of care that has potential to af...

    Christopher F. Tirotta, Stephen Alcos in Journal of Cardiothoracic Surgery (2020)

  6. Article

    Open Access

    Interval changes in ROTEM values during cardiopulmonary bypass in pediatric cardiac surgery patients

    Rotational thromboelastometry (ROTEM) has been shown to reduce the need for transfused blood products in adult and pediatric cardiac surgery patients. However, similar evidence in newborns, neonates, and young...

    Christopher F. Tirotta, Richard G. Lagueruela in Journal of Cardiothoracic Surgery (2019)

  7. Article

    Open Access

    Non-coding RNAs profiling in head and neck cancers

    The majority of studies on human cancers published to date focus on coding genes. More recently, however, non-coding RNAs (ncRNAs) are gaining growing recognition as important regulatory components. Here we ch...

    Daria Salyakina, Nicholas F Tsinoremas in npj Genomic Medicine (2016)

  8. Article

    Open Access

    Viral expression associated with gastrointestinal adenocarcinomas in TCGA high-throughput sequencing data

    Up to 20% of cancers worldwide are thought to be associated with microbial pathogens, including bacteria and viruses. The widely used methods of viral infection detection are usually limited to a few a priori sus...

    Daria Salyakina, Nicholas F Tsinoremas in Human Genomics (2013)

  9. Article

    Open Access

    A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism

    Genome-wide Association Studies (GWAS) have proved invaluable for the identification of disease susceptibility genes. However, the prioritization of candidate genes and regions for follow-up studies often prov...

    John P Hussman, Ren-Hua Chung, Anthony J Griswold, James M Jaworski in Molecular Autism (2011)

  10. No Access

    Article

    Common genetic variants on 5p14.1 associate with autism spectrum disorders

    Autism spectrum disorders (ASDs) represent a group of childhood neurodevelopmental and neuropsychiatric disorders characterized by deficits in verbal communication, impairment of social interaction, and restri...

    Kai Wang, Haitao Zhang, Deqiong Ma, Maja Bucan, Joseph T. Glessner in Nature (2009)

  11. Article

    Open Access

    Mouse to human comparative genetics reveals a novel immunoglobulin E-controlling locus on Hsa8q12

    Atopy is a predisposition to hyperproduction of immunoglobulin E (IgE) against common environmental allergens. It is often associated with development of allergic diseases such as asthma, rhinitis, and dermati...

    Elena S. Gusareva, Helena Havelková, Hana Blažková, Marcela Kosařová in Immunogenetics (2009)

  12. No Access

    Article

    Polymorphisms in FKBP5 are associated with increased recurrence of depressive episodes and rapid response to antidepressant treatment

    The stress hormone–regulating hypothalamic-pituitary-adrenal (HPA) axis has been implicated in the causality1 as well as the treatment of depression2. To investigate a possible association between genes regulatin...

    Elisabeth B Binder, Daria Salyakina, Peter Lichtner, Gabriele M Wochnik in Nature Genetics (2004)