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Elizabeth Blue | Researchclopedia

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Elizabeth Blue

Pacific Northwest Diabetes Research Institute ORCID

174

Works

3,903

Citations

32

h-index

71

i10-index

Research Topics

Genomics and Rare Diseases Genetic Associations and Epidemiology Genomic variations and chromosomal abnormalities

Affiliations

Boston University2018–2018

Washington State Department of Health2024–2024

Pacific Northwest Diabetes Research Institute2025–2025

Seattle Children's Hospital2021–2025

Children's Mercy Hospital2023–2023

Top Works

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Jessica X. Chong,Kati J. Buckingham,et al.

2015685 citations

Alzheimer's disease research and treatments

Cystic Fibrosis Research Advances

Rare Variants in <i>RTEL1</i> Are Associated with Familial Interstitial Pneumonia

Joy D. Cogan,Jonathan A. Kropski,et al.

2015197 citations

De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

Jessica X. Chong,Margaret J. McMillin,et al.

2015157 citations

Human microglia show unique transcriptional changes in Alzheimer’s disease

Katherine E. Prater,Kevin J. Green,et al.

2023141 citations

FAVOR: functional annotation of variants online resource and annotator for variation across the human genome

Hufeng Zhou,Theodore Arapoglou,et al.

2022137 citations

Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate

Liza L. Cox,Timothy C. Cox,et al.

2018130 citations

Local ancestry at <i>APOE</i> modifies Alzheimer's disease risk in Caribbean Hispanics

Elizabeth Blue,Andréa R. V. R. Horimoto,et al.

2019113 citations

Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

Monica H. Wojcik,Chloe M. Reuter,et al.

2023112 citations

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

Gali Heimer,Juha M. Kerätär,et al.

2016103 citations