Publications by authors named "Elizabeth Blue"

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Adjustment for Genotype Imputation Uncertainty Corrects for Inflated Type I Error in Family-Based Association Testing.
Tyler R C Day, Joshua C Bis, Nicola Chapman, Alejandro Q Nato, Andrea R V R Horimoto, Elizabeth E Blue

Genet Epidemiol· December 2025

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Training competencies and recommendations for the next generation of public health genetics: Reflections from current leaders in the field.
Diane Xue, Elizabeth E Blue, Stephanie M Fullerton, Nora B Henrikson, Sarah Knerr

Am J Hum Genet· December 2025

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Public Health.
Diane Xue, Elizabeth E Blue, Timothy M Hughes, Wendy Post, Alison E Fohner

Alzheimers Dement· December 2025

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Risk score roulette: A cautionary tale of polygenic risk score reliability.
Diane Xue, Elizabeth E Blue, Alexis C Wood, Jerome I Rotter, Alison E Fohner

J Alzheimers Dis· November 2025

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Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions.
Yong-Han Hank Cheng, Adriana E Sedeño-Cortés, Jane E Ranchalis, Katherine M Munson, Mitchell R Vollger, Elizabeth E Blue

medRxiv· November 2025

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Multi-ancestry meta-analysis identifies genetic modifiers of age-at-onset of Alzheimer's disease at known and novel loci.
Elizabeth E Blue, Jai Broome, Diane Xue, Hanley Kingston, Nicola H Chapman

Alzheimers Dement· September 2025

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Heterozygous variants in affect hearing, vision, cardiac, and immune function.
Mengqi Ma, Yiming Zheng, Mingxi Deng, Shenzhao Lu, Xueyang Pan, Elizabeth Blue

Elife· August 2025

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Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.
Jocelyn N Plowman, Evanjalina J Matoy, Lavanya V Uppala, Samantha B Draves, Cynthia J Watson, Elizabeth E Blue

HGG Adv· July 2025

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Novel Variants in VARS2 Demonstrate the Phenotypic Variability of a Rare Mitochondriopathy That Responds to Valine Supplementation.
Jonathan Marquez, Stephen Viviano, Fahmid Rahman, Samuel D Strohbehn, Aimee Allworth, Elizabeth E Blue

J Inherit Metab Dis· July 2025

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Multiple-testing corrections in case-control studies using identity-by-descent segments.
Seth D Temple, Nicola H Chapman, Seung Hoan Choi, Anita L DeStefano, Timothy A Thornton, Elizabeth E Blue

bioRxiv· July 2025

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Modifies Chronic Airway Infection Risk in Cystic Fibrosis.
Anna V Faino, William W Gordon, Kati Buckingham, Adrienne M Stilp, Rhonda G Pace, Elizabeth E Blue

Ann Am Thorac Soc· May 2025

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Exome Sequencing to Identify Novel Susceptibility Genes for Nonsyndromic Split-Hand/Ft Malformation: A Report From the National Birth Defects Prevention Study.
Tonia C Carter, Denise M Kay, Faith Pangilinan, Lynn M Almli, Mary M Jenkins, Elizabeth E Blue

Birth Defects Res· May 2025

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Opportunities and challenges of local ancestry in genetic association analyses.
Quan Sun, Andrea R V R Horimoto, Brian Chen, Frank Ockerman, Karen L Mohlke, Elizabeth Blue

Am J Hum Genet· April 2025

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Polygenic risk scores for incident dementia in the Multi-Ethnic Study of Atherosclerosis.
Diane Xue, Elizabeth E Blue, Tamar Sofer, Timothy M Hughes, Jerome I Rotter

medRxiv· March 2025

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Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition.
Mitchell R Vollger, Jonas Korlach, Kiara C Eldred, Elliott Swanson, Jason G Underwood, Elizabeth E Blue

Nat Genet· February 2025

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The Spectrum of Genetic Risk in Alzheimer Disease.
Nicholas Karagas, Jessica E Young, Elizabeth E Blue, Suman Jayadev

Neurol Genet· February 2025

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Association of common and rare variants with Alzheimer's disease in more than 13,000 diverse individuals with whole-genome sequencing from the Alzheimer's Disease Sequencing Project.
Wan-Ping Lee, Seung Hoan Choi, Margaret G Shea, Po-Liang Cheng, Beth A Dombroski, Elizabeth E Blue

Alzheimers Dement· December 2024

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Advancements in APOE and dementia research: Highlights from the 2023 AAIC Advancements: APOE conference.
Courtney M Kloske, Michael E Belloy, Elizabeth E Blue, Gregory R Bowman, Maria C Carrillo

Alzheimers Dement· September 2024

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Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder.
Marie Morimoto, Eunjin Ryu, Benjamin J Steger, Abhijit Dixit, Yoshihiko Saito, Elizabeth E Blue

Am J Hum Genet· September 2024

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Dual diagnosis of -related mitochondrial complex III deficiency and recessive -related cataracts.
Elizabeth E Blue, Samuel J Huang, Alyna Khan, Katie Golden-Grant, Brenna Boyd

Rare· August 2024

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In vitro data suggest a role for PMS2 Kozak sequence mutations in Lynch syndrome risk.
Evanjalina J Matoy, Jocelyn N Plowman, Cynthia J Watson, Michael A Belshan, Elizabeth E Blue

HGG Adv· July 2024

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Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.
Jocelyn N Plowman, Evanjalina J Matoy, Lavanya V Uppala, Samantha B Draves, Cynthia J Watson, Elizabeth E Blue

HGG Adv· July 2024

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Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.
Elizabeth E Blue, Kristin J Moore, Kari E North, Tania A Desrosiers, Suzan L Carmichael

Birth Defects Res· July 2024

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Key variants via the Alzheimer's Disease Sequencing Project whole genome sequence data.
Yanbing Wang, Chloé Sarnowski, Honghuang Lin, Achilleas N Pitsillides, Nancy L Heard-Costa, Elizabeth E Blue

Alzheimers Dement· May 2024

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The power of representation: Statistical analysis of diversity in US Alzheimer's disease genetics data.
Diane Xue, Elizabeth E Blue, Matthew P Conomos, Alison E Fohner

Alzheimers Dement (N Y)· March 2024

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