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Author Details

Elizabeth A Worthey
Heersink School of Medicine, The University of Alabama at Birmingham
1995
67
32
PMIDPaper TitleJournal TitlePublished Year
36602970Ten simple rules for using public biological data for your research.PLoS Comput Biol2023
37539852Impact of intrinsic and extrinsic risk factors on early-onset lung disease in cystic fibrosis.Pediatr Pulmonol2023
36602970Ten simple rules for using public biological data for your research.PLoS Comput Biol2023
37539852Impact of intrinsic and extrinsic risk factors on early-onset lung disease in cystic fibrosis.Pediatr Pulmonol2023
36184229Genetic factors help explain the variable responses of young children with cystic fibrosis to vitamin D supplements.Clin Nutr ESPEN2022
35544951DOCKopathies: A systematic review of the clinical pathologies associated with human DOCK pathogenic variants.Hum Mutat2022
36184229Genetic factors help explain the variable responses of young children with cystic fibrosis to vitamin D supplements.Clin Nutr ESPEN2022
35544951DOCKopathies: A systematic review of the clinical pathologies associated with human DOCK pathogenic variants.Hum Mutat2022
34151259Development of An Individualized Risk Prediction Model for COVID-19 Using Electronic Health Record Data.Front Big Data2021
34151259Development of An Individualized Risk Prediction Model for COVID-19 Using Electronic Health Record Data.Front Big Data2021
33771552Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome.J Allergy Clin Immunol2021
33771552Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome.J Allergy Clin Immunol2021
33110627Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.NPJ Genom Med2020
33110627Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.NPJ Genom Med2020
32014855Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis.Cold Spring Harb Mol Case Stud2020
32014855Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis.Cold Spring Harb Mol Case Stud2020
30964584A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.J Genet Couns2019
31232887Risk-factors Associated With Poor Outcomes in VEO-IBD Secondary to XIAP Deficiency: A Case Report and Literature Review.J Pediatr Gastroenterol Nutr2019
30964584A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.J Genet Couns2019
31836585Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles.Cold Spring Harb Mol Case Stud2019
31836585Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles.Cold Spring Harb Mol Case Stud2019
31232887Risk-factors Associated With Poor Outcomes in VEO-IBD Secondary to XIAP Deficiency: A Case Report and Literature Review.J Pediatr Gastroenterol Nutr2019
29726930Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.Hum Mol Genet2018
30304647Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.N Engl J Med2018
29967337De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1.Eur J Hum Genet2018
29727589Genome sequencing in the clinic: the past, present, and future of genomic medicine.Physiol Genomics2018
29726930Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.Hum Mol Genet2018
29967337De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1.Eur J Hum Genet2018
30304647Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.N Engl J Med2018
29727589Genome sequencing in the clinic: the past, present, and future of genomic medicine.Physiol Genomics2018
28686325RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy.Am J Med Genet A2017
28686325RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy.Am J Med Genet A2017
28496993Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic.J Pediatr Genet2017
28340351Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.Cell2017
28315672Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings.J Mol Diagn2017
28204942Molecular modeling in the age of clinical genomics, the enterprise of the next generation.J Mol Model2017
29044471Analysis and Annotation of Whole-Genome or Whole-Exome Sequencing Derived Variants for Clinical Diagnosis.Curr Protoc Hum Genet2017
28340351Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.Cell2017
28315672Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings.J Mol Diagn2017
28496993Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic.J Pediatr Genet2017
28204942Molecular modeling in the age of clinical genomics, the enterprise of the next generation.J Mol Model2017
29044471Analysis and Annotation of Whole-Genome or Whole-Exome Sequencing Derived Variants for Clinical Diagnosis.Curr Protoc Hum Genet2017
25149474Prostate cancer risk locus at 8q24 as a regulatory hub by physical interactions with multiple genomic loci across the genome.Hum Mol Genet2015
26154004Good laboratory practice for clinical next-generation sequencing informatics pipelines.Nat Biotechnol2015
26097192Cross-organism analysis using InterMine.Genesis2015
25915538Plasma genetic and genomic abnormalities predict treatment response and clinical outcome in advanced prostate cancer.Oncotarget2015
25355511The Rat Genome Database 2015: genomic, phenotypic and environmental variations and disease.Nucleic Acids Res2015
25149474Prostate cancer risk locus at 8q24 as a regulatory hub by physical interactions with multiple genomic loci across the genome.Hum Mol Genet2015
26154004Good laboratory practice for clinical next-generation sequencing informatics pipelines.Nat Biotechnol2015
26097192Cross-organism analysis using InterMine.Genesis2015
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Collaborators

Howard J Jacob
Genomics Research Center
Co-authored papers 18
Peter J Myler
University of Guelph
Co-authored papers 15
Mary Shimoyama
Medical College of Wisconsin
Co-authored papers 11
David Bick
Genomics England Ltd.
Co-authored papers 10
Melinda R Dwinell
Medical College of Wisconsin
Co-authored papers 9
David Dimmock
Rady Children's Institute for Genomic Medicine
Co-authored papers 8
Stanley J F Laulederkind
Medical College of Wisconsin
Co-authored papers 8
Victoria Petri
Medical College of Wisconsin and Marquette University
Co-authored papers 8
Jeff De Pons
Medical College of Wisconsin
Co-authored papers 7
Kenneth Stuart
Seattle Children's Research Institute
Co-authored papers 7
Shur-Jen Wang
Medical College of Wisconsin
Co-authored papers 7
G Thomas Hayman
Medical College of Wisconsin
Co-authored papers 7
Wesley C Van Voorhis
Center for Emerging and Re-emerging Infectious Diseases, University of Washington
Co-authored papers 6
Frederick S Buckner
University of Washington
Co-authored papers 6
Timothy F Lowry
Medical College of Wisconsin
Co-authored papers 6
Brandon M Wilk
Co-authored papers 6
Marek Tutaj
Medical College of Wisconsin
Co-authored papers 5
Monte Westerfield
Institute of Neuroscience, University of Oregon
Co-authored papers 4
Christophe L M J Verlinde
University of Washington
Co-authored papers 3
Thomas Earnest
Washington University School of Medicine in St. Louis
Co-authored papers 3
Steven L Salzberg
Center for Computational Biology, Johns Hopkins University
Co-authored papers 3
Jonathan A Bernstein
Stanford University
Co-authored papers 3
Thomas May
Elson S. Floyd College of Medicine, Washington State University
Co-authored papers 3
Alasdair Ivens
University of Washington School of Medicine
Co-authored papers 3
Euan A Ashley
Stanford University
Co-authored papers 3
Ira M Lubin
Centers for Disease Control and Prevention
Co-authored papers 2
Gail Binkley
Stanford University
Co-authored papers 2
Brian J Haas
Broad Institute of MIT and Harvard
Co-authored papers 2
Deanna M Church
Present address: Inscripta Inc.
Co-authored papers 2
Christiane Hertz-Fowler
Institute of Integrative Biology, University of Liverpool
Co-authored papers 2
Release 1.2