Publications by authors named "Elizabeth Worthey"

Claim this Profile
U
Uncovering the genetic architecture of ME/CFS: a precision approach reveals impact of rare monogenic variation.
Camille L Birch, Brandon M Wilk, Manavalan Gajapathy, Shaurita D Hutchins, Gurpreet Kaur, Elizabeth A Worthey

J Transl Med· December 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
scnanoseq: an nf-core pipeline for Oxford Nanopore single-cell RNA-sequencing.
Austyn Trull, Elizabeth A Worthey, Lara Ianov

Bioinformatics· September 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical Bioinformatician Body of Knowledge-Clinical Laboratory Regulation and Data Security Core: A Report of the Association for Molecular Pathology.
Ryan J Schmidt, Larissa V Furtado, Amber M Fussell, Danielle Jordan, Matthew Lebo, Elizabeth Worthey

J Mol Diagn· July 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The Frequency and Potential Implications of HFE Genetic Variants in Children With Cystic Fibrosis.
Leslie Huang, HuiChuan J Lai, Katryn N Furuya, Nicholas J Antos, Fadi Asfour, Elizabeth A Worthey

Pediatr Pulmonol· March 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Jennefer N Kohler, Nicole R Legro, Dustin Baldridge, Jimann Shin, Angela Bowman, Elizabeth A Worthey

Genet Med· September 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
V
Vitamin D status and variable responses to supplements depend in part on genetic factors in adults with cystic fibrosis.
Andrew T Braun, HuiChuan J Lai, Anita Laxova, Julie A Biller, Erin K Hubertz, Elizabeth A Worthey

J Cyst Fibros· July 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Molecular Characterization of Juxtaglomerular Cell Tumors: Evidence of Alterations in MAPK-RAS Pathway.
João Lobo, Sofia Canete-Portillo, Maria Del Carmen Rodriguez Pena, Jesse K McKenney, Manju Aron, Elizabeth A Worthey

Mod Pathol· June 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Sarah L Stenton, Melanie C O'Leary, Gabrielle Lemire, Grace E VanNoy, Stephanie DiTroia, Elizabeth A Worthey

Hum Genomics· April 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Pharmacogenomics for Prader-Willi syndrome: caregiver interest and planned utilization.
Yael Bar-Peled, Jessica J Denton, Jaimie L Richards, Donna Brown, Elizabeth Worthey

Pharmacogenomics· March 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Development of adaptive anoikis resistance promotes metastasis that can be overcome by CDK8/19 Mediator kinase inhibition.
Mehri Monavarian, Emily Faith Page, Resha Rajkarnikar, Asha Kumari, Liz Quintero Macias, Elizabeth Worthey

bioRxiv· December 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Impact of intrinsic and extrinsic risk factors on early-onset lung disease in cystic fibrosis.
Leslie Huang, HuiChuan J Lai, Jie Song, Zijie Zhao, Qiongshi Lu, Elizabeth A Worthey

Pediatr Pulmonol· November 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
Sarah L Stenton, Melanie O'Leary, Gabrielle Lemire, Grace E VanNoy, Stephanie DiTroia, Elizabeth A Worthey

medRxiv· August 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Ten simple rules for using public biological data for your research.
Vishal H Oza, Jordan H Whitlock, Elizabeth J Wilk, Angelina Uno-Antonison, Brandon Wilk, Elizabeth A Worthey

PLoS Comput Biol· January 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genetic factors help explain the variable responses of young children with cystic fibrosis to vitamin D supplements.
HuiChuan J Lai, Jie Song, Qiongshi Lu, Sangita G Murali, Manavalan Gajapathy, Elizabeth A Worthey

Clin Nutr ESPEN· October 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
DOCKopathies: A systematic review of the clinical pathologies associated with human DOCK pathogenic variants.
Adrienne Samani, Katherine G English, Michael A Lopez, Camille L Birch, Donna M Brown, Elizabeth A Worthey

Hum Mutat· September 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome.
Yin-Huai Chen, Diane B Zastrow, Riley D Metcalfe, Lisa Gartner, Freia Krause, Elizabeth A Worthey

J Allergy Clin Immunol· August 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Development of An Individualized Risk Prediction Model for COVID-19 Using Electronic Health Record Data.
Tarun Karthik Kumar Mamidi, Thi K Tran-Nguyen, Ryan L Melvin, Elizabeth A Worthey

Front Big Data· June 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.
Christian R Marshall, Shimul Chowdhury, Ryan J Taft, Mathew S Lebo, Jillian G Buchan, Elizabeth A Worthey

NPJ Genom Med· October 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis.
Melissa A Wilk, Andrew T Braun, Philip M Farrell, Anita Laxova, Donna M Brown, Elizabeth A Worthey

Cold Spring Harb Mol Case Stud· February 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles.
J Nicholas Cochran, Emily C McKinley, Meagan Cochran, Michelle D Amaral, Bryan A Moyers, Elizabeth A Worthey

Cold Spring Harb Mol Case Stud· December 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
V
VarSight: prioritizing clinically reported variants with binary classification algorithms.
James M Holt, Brandon Wilk, Camille L Birch, Donna M Brown, Manavalan Gajapathy, Elizabeth A Worthey

BMC Bioinformatics· October 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Risk-factors Associated With Poor Outcomes in VEO-IBD Secondary to XIAP Deficiency: A Case Report and Literature Review.
Asama Lekbua, Jodie Ouahed, Amy E O'Connell, Stacy A Kahn, Jeffrey D Goldsmith, Elizabeth Worthey

J Pediatr Gastroenterol Nutr· July 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.
Diane B Zastrow, Jennefer N Kohler, Devon Bonner, Chloe M Reuter, Liliana Fernandez, Elizabeth A Worthey

J Genet Couns· April 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1.
Sarah A Cumming, Mark J Hamilton, Yvonne Robb, Helen Gregory, Catherine McWilliam, Elizabeth Worthey

Eur J Hum Genet· November 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
Kimberly Splinter, David R Adams, Carlos A Bacino, Hugo J Bellen, Jonathan A Bernstein, Elizabeth A Worthey

N Engl J Med· November 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis