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Cold Spring Harbor Molecular Case Studies|March 18, 2018
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 infectionsNathaly M Sweeney, Shareef A Nahas, Shimul Chowdhury, et al.
Radiation Research|October 4, 2011
Comprehensive profiling of radiosensitive human cell lines with DNA damage response assays identifies the neutral comet assay as a potential surrogate for clonogenic survivalShareef A Nahas, Robert Davies, Francesca Fike, et al.
Arthritis and Rheumatism|September 10, 2011
Defective DNA double-strand break repair in pediatric systemic lupus erythematosusRobert C Davies, Kelly Pettijohn, Francesca Fike, et al.
Molecular Genetics & Genomic Medicine|June 2, 2021
Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndromeJennifer Friedman, Lynne M Bird, Richard Haas, et al.
NPJ Genomic Medicine|April 23, 2021
Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart diseaseNathaly M Sweeney, Shareef A Nahas, Shimul Chowdhury, et al.
Blood|October 3, 2015
MDS-associated somatic mutations and clonal hematopoiesis are common in idiopathic cytopenias of undetermined significanceBrian Kwok, Jeff M Hall, John S Witte, et al.
BMC Infectious Diseases|April 26, 2022
Identification of SARS-CoV-2 variants using viral sequencing for the Centers for Disease Control and Prevention genomic surveillance programChirayu Goswami, Michael Sheldon, Christian Bixby, et al.
Pediatric Critical Care Medicine : a Journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies|June 28, 2019
Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICUErica F Sanford, Michelle M Clark, Lauge Farnaes, et al.
Cancer Research|October 13, 2020
Functional Precision Medicine Identifies New Therapeutic Candidates for MedulloblastomaJessica M Rusert, Edwin F Juarez, Sebastian Brabetz, et al.
Nature Genetics|July 21, 2022
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosisRicardo Moreno Traspas, Tze Shin Teoh, Pui-Mun Wong, et al.
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