Deanna M. Church
Louisiana State University(US)
Publications by Year
Research Areas
Genomics and Phylogenetic Studies, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Cancer Genomics and Diagnostics, Chromosomal and Genetic Variations
Most-Cited Works
- → Initial sequencing and comparative analysis of the mouse genome(2002)7,215 cited
- → ClinVar: public archive of relationships among sequence variation and human phenotype(2013)3,541 cited
- A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.(1993)
- → Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies(2010)2,854 cited
- → Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member(1992)2,767 cited
- → Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia(1994)1,321 cited
- → Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly