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JAMA Network Open|March 28, 2024
Germline Genetic Testing and Survival Outcomes Among Children With Rhabdomyosarcoma: A Report From the Children's Oncology GroupBailey A Martin-Giacalone, He Li, Michael E Scheurer, et al.Nature|February 28, 2012
Strict evolutionary conservation followed rapid gene loss on human and rhesus Y chromosomesJennifer F Hughes, Helen Skaletsky, Laura G Brown, et al.JCI Insight|December 8, 2022
An ELF4 hypomorphic variant results in NK cell deficiencySandra Andrea Salinas, Emily M Mace, Matilde I Conte, et al.Genome Research|November 7, 2007
28-way vertebrate alignment and conservation track in the UCSC Genome BrowserWebb Miller, Kate Rosenbloom, Ross C Hardison, et al.Biorxiv : the Preprint Server for Biology|July 3, 2023
Functional Genomics of Gastrointestinal <i>Escherichia coli</i> Isolated from Patients with Cancer and DiarrheaHannah Carter, Justin Clark, Lily G Carlin, et al.Journal of the American Medical Informatics Association : JAMIA|June 4, 2018
Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE exampleSamuel Aronson, Lawrence Babb, Darren Ames, et al.Biorxiv : the Preprint Server for Biology|February 12, 2026
Integrative Single-Cell Epigenomic Atlas Annotates the Regulatory Genome of the Adult Mouse BrainZhaoning Wang, Songpeng Zu, Ethan J Armand, et al.Pediatric Hematology and Oncology|June 27, 2023
Circulating tumor DNA sequencing of pediatric solid and brain tumor patients: An institutional feasibility studyRoss Mangum, Jacquelyn Reuther, Koel Sen Baksi, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 13, 2021
Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsyDaniel G Calame, Somayeh Bakhtiari, Rachel Logan, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 25, 2020
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indelsBo Yuan, Lei Wang, Pengfei Liu, et al.Pageof 117