Donna M. Muzny
Baylor College of Medicine(US)Baylor Genetics(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Cancer Genomics and Diagnostics, RNA modifications and cancer
Most-Cited Works
- → The genome of the model beetle and pest Tribolium castaneum(2008)1,425 cited
- → Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing(2014)1,387 cited
- → Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation(2016)762 cited
- → Use of Exome Sequencing for Infants in Intensive Care Units(2017)427 cited
- → COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis(2015)389 cited
- → TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum(2011)376 cited
- → Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease(2015)333 cited
- → Reanalysis of Clinical Exome Sequencing Data(2019)291 cited
- → Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders(2016)273 cited
- → A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies(2009)267 cited