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American Journal of Human Genetics|July 24, 2012
Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical coresKaren Majczenko, Ann E Davidson, Sandra Camelo-Piragua, et al.European Journal of Human Genetics : EJHG|January 23, 2023
Reanalysis of clinical exome identifies the second variant in two individuals with recessive disordersQifei Li, Rohan Agrawal, Klaus Schmitz-Abe, et al.Veterinary Microbiology|December 19, 2000
Compliance of Victorian dairy farmers with current calf rearing recommendations for control of Johne's diseaseM D Wraight, J McNeil, D S Beggs, et al.Digital Health|December 30, 2025
Co-created data governance frameworks for youth mental healthcare: Values, principles, and implementation-A scoping reviewSebastian Rodriguez Duque, Eran Tal, Taite Beggs, et al.Neuromuscular Disorders : NMD|May 8, 2012
Congenital myopathy caused by a novel missense mutation in the CFL2 geneC W Ockeloen, H J Gilhuis, R Pfundt, et al.Proceedings of the National Academy of Sciences of the United States of America|December 21, 2005
Evidence by molecular profiling for a placental origin of infantile hemangiomaCarmen M Barnés, Sui Huang, Arja Kaipainen, et al.Annals of Surgery|February 1, 2018
Whole Genome Methylation Analysis of Nondysplastic Barrett Esophagus that Progresses to Invasive CancerMark P Dilworth, Tom Nieto, Jo D Stockton, et al.Nature Communications|November 29, 2023
Mechanisms of synthetic lethality between BRCA1/2 and 53BP1 deficiencies and DNA polymerase theta targetingGeorge E Ronson, Katarzyna Starowicz, Elizabeth J Anthony, et al.Nature Genetics|March 4, 2000
Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosisJ M Kaplan, S H Kim, K N North, et al.Genome Medicine|February 26, 2021
Clinical-grade whole-genome sequencing and 3' transcriptome analysis of colorectal cancer patientsAgata Stodolna, Miao He, Mahesh Vasipalli, et al.Pageof 148