Brett Copeland
Children’s Institute(US)University of California San Diego(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, RNA and protein synthesis mechanisms, RNA Research and Splicing, RNA modifications and cancer, Hedgehog Signaling Pathway Studies
Most-Cited Works
- → Diagnostic Utility of Exome Sequencing for Kidney Disease(2018)736 cited
- → Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome(2015)211 cited
- → Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics(2017)169 cited
- → Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction(2015)134 cited
- → An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development(2015)124 cited
- → Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome(2015)121 cited
- → Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development(2023)103 cited
- → Natural Selection Shapes Codon Usage in the Human Genome(2020)87 cited
- → Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration(2018)86 cited
- → The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing(2018)80 cited