Elizabeth Blue
Pacific Northwest Diabetes Research Institute(US)Seattle Children's Hospital(US)Palo Alto University(US)Huntington University(US)University of Washington(US)University of Washington Medical Center(US)Azienda Ospedaliera di Perugia(IT)Medical Genetics Center(DE)Brotman Baty Institute(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetic Associations and Epidemiology, Genomic variations and chromosomal abnormalities, Alzheimer's disease research and treatments, Cystic Fibrosis Research Advances
Most-Cited Works
- → The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities(2015)685 cited
- → Rare Variants in RTEL1 Are Associated with Familial Interstitial Pneumonia(2015)197 cited
- → De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay(2015)157 cited
- → Human microglia show unique transcriptional changes in Alzheimer’s disease(2023)140 cited
- → FAVOR: functional annotation of variants online resource and annotator for variation across the human genome(2022)137 cited
- → Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate(2018)129 cited