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Plos One|November 1, 2014
Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemiaVivien A Sheehan, Jacy R Crosby, Aniko Sabo, et al.
Plos Biology|December 3, 2020
Primate phylogenomics uncovers multiple rapid radiations and ancient interspecific introgressionDan Vanderpool, Bui Quang Minh, Robert Lanfear, et al.
Pediatric Diabetes|August 13, 2021
Exome sequencing in children with clinically suspected maturity-onset diabetes of the youngMustafa Tosur, Claudia Soler-Alfonso, Katie M Chan, et al.
Studies in Health Technology and Informatics|August 8, 2025
Implementing a Nordic-Baltic Federated Health Data Network: A Case ReportTaridzo Chomutare, Aleksandar Barbic, Laura-Maria Peltonen, et al.
Biorxiv : the Preprint Server for Biology|September 16, 2024
Examining intra-host genetic variation of RSV by short read high-throughput sequencingDavid Henke, Felipe-Andrés Piedra, Vasanthi Avadhanula, et al.
Research Square|June 19, 2023
Longitudinal host transcriptional responses to SARS-CoV-2 infection in adults with extremely high viral loadVasanthi Avadhanula, Chad Creighton, Laura Ferlic-Stark, et al.
Source Code for Biology and Medicine|June 23, 2016
SV-STAT accurately detects structural variation via alignment to reference-based assembliesCaleb F Davis, Deborah I Ritter, David A Wheeler, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 13, 2016
Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2Samin A Sajan, Shalini N Jhangiani, Donna M Muzny, et al.
Genome Medicine|July 22, 2015
Secondary findings and carrier test frequencies in a large multiethnic sampleTomasz Gambin, Shalini N Jhangiani, Jennifer E Below, et al.
Genome Medicine|February 7, 2013
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndromeMatthew N Bainbridge, Hao Hu, Donna M Muzny, et al.
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