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The Journal of Pediatrics|June 20, 2020
The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill ChildrenAmanda S Freed, Sarah V Clowes Candadai, Megan C Sikes, et al.Medrxiv : the Preprint Server for Health Sciences|May 7, 2026
Genome-wide detection and clinical prioritization of tandem repeat outliers using long-read sequencingSophia B Gibson, Nikhita Damaraju, J Gus Gustafson, et al.JAMA|October 19, 2014
Clinical exome sequencing for genetic identification of rare Mendelian disordersHane Lee, Joshua L Deignan, Naghmeh Dorrani, et al.American Journal of Medical Genetics. Part A|February 16, 2026
Implementation of First-Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care UnitsAlexandra C Keefe, Abbey A Scott, Lukas Kruidenier, et al.Medrxiv : the Preprint Server for Health Sciences|November 26, 2025
Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditionsYong-Han Hank Cheng, Adriana E Sedeño-Cortés, Jane E Ranchalis, et al.Medrxiv : the Preprint Server for Health Sciences|June 4, 2026
Phenotype-Specific Recalibration of MAVE Data Enables Repurposing of BAP1 Functional Assays for Küry-Isidor SyndromePankhuri Gupta, Elsa V Balton, Mavika Tejura, et al.Nature Genetics|March 10, 2009
Validation of candidate causal genes for obesity that affect shared metabolic pathways and networksXia Yang, Joshua L Deignan, Hongxiu Qi, et al.Annals of Clinical and Translational Neurology|May 17, 2023
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndromeJonai Pujol-Giménez, Ghayda Mirzaa, Elizabeth E Blue, et al.Neurology. Genetics|August 10, 2023
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2AAndrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, et al.Biorxiv : the Preprint Server for Biology|October 9, 2023
Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian conditionMitchell R Vollger, Jonas Korlach, Kiara C Eldred, et al.Pageof 7