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Deanna M. Church | Researchclopedia

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Deanna M. Church

Louisiana State University ORCID

176

Works

107,363

Citations

57

h-index

87

i10-index

Research Topics

Genomics and Phylogenetic Studies Genomics and Rare Diseases Genomic variations and chromosomal abnormalities

Affiliations

Louisiana State University2026–2026

Centers for Disease Control and Prevention2015–2015

Mount Sinai Hospital1998–2000

National Institutes of Health2001–2017

European Bioinformatics Institute2012–2012

Top Works

Initial sequencing and comparative analysis of the mouse genome

Robert H Waterston,R Waterston,et al.

20027,218 citations

Cancer Genomics and Diagnostics

Chromosomal and Genetic Variations

ClinVar: public archive of relationships among sequence variation and human phenotype

Melissa Landrum,Jennifer M. Lee,et al.

20133,547 citations

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.

Manish A. Shah,Nicole A. Datson,et al.

19933,065 citations

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

David T. Miller,Margaret P Adam,et al.

20102,855 citations

Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member

J. David Brook,Mila E. McCurrach,et al.

19922,768 citations

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

Rita Shiang,Leslie M. Thompson,et al.

19941,322 citations

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

Valérie Schneider,Tina A. Graves-Lindsay,et al.

20171,257 citations

Multi-platform discovery of haplotype-resolved structural variation in human genomes

Mark Chaisson,Ashley D. Sanders,et al.

20191,027 citations

Database resources of the National Center for Biotechnology Information

David Wheeler,Tanya Barrett,et al.

20071,019 citations