Selected Publications

Academic Article

Year Title Altmetric
2021 A resource of lipidomics and metabolomics data from individuals with undiagnosed diseasesScientific Data.  8. 2021
2021 Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndromeJournal of Allergy and Clinical Immunology.  148:585-598. 2021
2020 Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline diseasenpj Genomic Medicine.  5. 2020
2020 Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosisCold Spring Harbor molecular case studies.  6. 2020
2020 Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β SignalingBiological Psychiatry.  87:100-112. 2020
2019 Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophyClinical Imaging.  58:108-113. 2019
2019 VarSight: Prioritizing clinically reported variants with binary classification algorithmsBMC Bioinformatics.  20. 2019
2019 De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital DefectsAmerican Journal of Human Genetics.  105:854-868. 2019
2019 Erratum: De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia (The American Journal of Human Genetics (2019) 105(2) (413–424), (S0002929719302393), (10.1016/j.ajhg.2019.06.014))American Journal of Human Genetics.  105:672-674. 2019
2019 De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar HypoplasiaAmerican Journal of Human Genetics.  105:413-424. 2019
2019 Risk-factors Associated With Poor Outcomes in VEO-IBD Secondary to XIAP Deficiency: A Case Report and Literature Review.Journal of Pediatric Gastroenterology and Nutrition.  69:e13-e18. 2019
2019 Risk-factors Associated with Poor Outcomes in VEO-IBD Secondary to XIAP Deficiency: A Case Report and Literature ReviewJournal of Pediatric Gastroenterology and Nutrition.  69:E13-E18. 2019
2019 Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal AcidificationAmerican Journal of Human Genetics.  104:1127-1138. 2019
2019 Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature reviewAmerican Journal of Medical Genetics Part A.  179:966-977. 2019
2019 Identification of rare-disease genes using blood transcriptome sequencing and large control cohortsNature Medicine.  25:911-919. 2019
2019 IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cellsMolecular Genetics and Genomic Medicine.  7. 2019
2019 A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencingJournal of Genetic Counseling.  28:213-228. 2019
2019 Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia PhenotypesAmerican Journal of Human Genetics.  104:422-438. 2019
2019 Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental DelayAmerican Journal of Human Genetics.  104:164-178. 2019
2019 A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negativeGenetics in Medicine.  21:161-172. 2019
2019 Genome sequencing for early-onset or atypical dementia: High diagnostic yield and frequent observation of multiple contributory allelesCold Spring Harbor molecular case studies.  5. 2019
2018 Effect of genetic diagnosis on patients with previously undiagnosed diseaseNew England Journal of Medicine.  379:2131-2139. 2018
2018 De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1European Journal of Human Genetics.  26:1635-1647. 2018
2018 Erratum: IRF2BPL Is Associated with Neurological Phenotypes (The American Journal of Human Genetics (2018) 103(2) (245–260), (S0002929718302337) (10.1016/j.ajhg.2018.07.006))American Journal of Human Genetics.  103:456. 2018
2018 Characteristics of undiagnosed diseases network applicants: Implications for referring providersBMC Health Services Research.  18. 2018
2018 IRF2BPL Is Associated with Neurological PhenotypesAmerican Journal of Human Genetics.  103:245-260. 2018
2018 Genome sequencing in the clinic: The past, present, and future of genomic medicinePhysiological Genomics.  50:563-579. 2018
2018 Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorderHuman Molecular Genetics.  27:2454-2465. 2018
2018 Looking beyond the exome: A phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseasesGenetics in Medicine.  20:464-469. 2018
2018 Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic DisorderAmerican Journal of Human Genetics.  102:494-504. 2018
2017 Analysis and Annotation of Whole-Genome or Whole-Exome Sequencing Derived Variants for Clinical DiagnosisCurrent protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.].  95:9.24.1-9.24.28. 2017
2017 RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathyAmerican Journal of Medical Genetics Part A.  173:2557-2561. 2017
2017 MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human GenomeAmerican Journal of Human Genetics.  100:843-853. 2017
2017 Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic.Journal of Pediatric Genetics.  6:61-76. 2017
2017 Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings 2017
2017 Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic ResearchCell.  169:6-12. 2017
2017 Molecular modeling in the age of clinical genomics, the enterprise of the next generationJournal of Molecular Modeling.  23. 2017
2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3American Journal of Human Genetics.  100:128-137. 2017
2017 Model organisms facilitate rare disease diagnosis and therapeutic research 2017
2016 De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical PhenotypeAmerican Journal of Human Genetics.  99:991-999. 2016
2015 Data Sharing in the Undiagnosed Diseases NetworkHuman Mutation.  36:985-988. 2015
2015 Cross-organism analysis using InterMine. 2015
2015 Good laboratory practice for clinical next-generation sequencing informatics pipelinesNature Biotechnology.  33:689-693. 2015
2015 The Rat Genome Database 2015: Genomic, phenotypic and environmental variations and diseaseNucleic Acids Research.  43:D743-D750. 2015
2015 Plasma genetic and genomic abnormalities predict treatment response and clinical outcome in advanced prostate cancerOncotarget.  6:16411-16421. 2015
2015 Prostate cancer risk locus at 8q24 as a regulatory hub by physical interactions with multiple genomic loci across the genomeHuman Molecular Genetics.  24:154-166. 2015
2014 In the Absence of Evidentiary Harm, Existing Societal Norms Regarding Parental Authority Should Prevail 2014
2014 The pathway ontology - updates and applicationsJournal of Biomedical Semantics.  5. 2014
2014 Disease pathways at the Rat Genome Database Pathway Portal: Genes in context-a network approach to understanding the molecular mechanisms of diseaseHuman Genomics.  8. 2014
2013 Erratum: InterMOD: Integrated data and tools for the unification of model organism research (Scientific Reports (2013) 3 (1802) DOI: 10.1038/srep01802)Scientific Reports.  3. 2013
2013 Analysis of disease-associated objects at the Rat Genome Database 2013
2013 IreB, a Ser/Thr kinase substrate, influences antimicrobial resistance in Enterococcus faecalisAntimicrobial Agents and Chemotherapy.  57:6179-6186. 2013
2013 Rat Strain Ontology: Structured controlled vocabulary designed to facilitate access to strain data at RGDJournal of Biomedical Semantics.  4. 2013
2013 The clinical measurement, measurement method and experimental condition ontologies: Expansion, improvements and new applicationsJournal of Biomedical Semantics.  4. 2013
2013 Rat genome database: A unique resource for rat, human, and mouse quantitative trait locus dataPhysiological Genomics.  45:809-816. 2013
2013 Genomics in clinical practice: Lessons from the front linesScience Translational Medicine.  5. 2013
2013 The Rat Genome Database 2013-data, tools and usersBriefings in Bioinformatics.  14:520-526. 2013
2013 Analysis and annotation of whole-genome or whole-exome sequencing-derived variants for clinical diagnosisCurrent protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.]2013
2013 Copy number variation analysis in 98 individuals with PHACE syndromeJournal of Investigative Dermatology.  133:677-684. 2013
2013 InterMOD: Integrated data and tools for the unification of model organism researchScientific Reports.  3. 2013
2012 Genome interpretation and assembly-recent progress and next steps.Nature Biotechnology.  30:1081-1083. 2012
2011 A timely arrival for genomic medicineGenetics in Medicine.  13:195-196. 2011
2011 Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel diseaseGenetics in Medicine.  13:255-262. 2011
2010 Sequencing of the rat genome and databases.Methods in Molecular Biology.  597:33-53. 2010
2009 The Rat Genome Database 2009: Variation, ontologies and pathwaysNucleic Acids Research.  37. 2009
2006 Using fragment cocktail crystallography to assist inhibitor design of Trypanosoma brucei nucleoside 2-deoxyribosyltransferaseJournal of Medicinal Chemistry.  49:5939-5946. 2006
2006 Heterologous expression of proteins from Plasmodium falciparum: Results from 1000 genesMolecular and Biochemical Parasitology.  148:144-160. 2006
2006 Structure of Lmaj006129AAA, a hypothetical protein from Leishmania majorActa Crystallographica Section F: Structural Biology Communications.  62:175-179. 2006
2006 Taking U out, with two nucleases?BMC Bioinformatics.  7. 2006
2006 Crystal structure of glyceraldehyde-3-phosphate dehydrogenase from Plasmodium falciparum at 1.25 Å resolution reveals intriguing extra electron density in the active site 2006
2006 Structure of a ribulose 5-phosphate 3-epimerase from Plasmodium falciparum 2006
2005 Crystal structures and proposed structural/functional classification of three protozoan proteins from the isochorismatase superfamilyProtein Science.  14:2887-2894. 2005
2005 Comparative analysis of the kinomes of three pathogenic trypanosomatids: Leishmania major, Trypanosoma brucei and Trypanosoma cruziBMC Genomics.  6. 2005
2005 Comparative genomics of trypanosomatid parasitic protozoaScience.  309. 2005
2005 The genome of the kinetoplastid parasite, Leishmania majorScience.  309:436-442. 2005
2005 The genome sequence of Trypanosoma cruzi, etiologic agent of chagas diseaseScience.  309. 2005
2005 Protozoan genomes: Gene identification and annotationInternational Journal for Parasitology.  35:495-512. 2005
2004 Erratum: Leishmania major chromosome 3 contains two long convergent polycistronic gene clusters separated by a tRNA gene (Nucleic Acids Research (2003) vol. 31 (4201-4210))Nucleic Acids Research.  32:6716. 2004
2004 Genomic organization and gene expression in a chromosomal region of Leishmania majorMolecular and Biochemical Parasitology.  134:233-243. 2004
2003 Comparative analysis of editosome proteins in trypanosomatidsNucleic Acids Research.  31:6392-6408. 2003
2003 Leishmania major chromosome 3 contains two long convergent polycistronic gene clusters separated by a tRNA geneNucleic Acids Research.  31:4201-4210. 2003
2003 Importing statistical measures into Artemis enhances gene identification in the Leishmania genome projectBMC Bioinformatics.  4. 2003
2003 Evaluation of differential gene expression in Leishmania major Friedlin procyclics and metacyclics using DNA microarray analysisMolecular and Biochemical Parasitology.  129:103-114. 2003
2001 A role for selection in regulating the evolutionary emergence of disease-causing and other coding CAG repeats in humans and miceMolecular Biology and Evolution.  18:1014-1023. 2001
2001 The Leishmania genome project: New insights into gene organization and functionMedical Microbiology and Immunology.  190:9-12. 2001
1996 Lymphocytes from orally tolerized mice display enhanced susceptibility to death by apoptosis when cultured in the absence of antigen in vitroAmerican Journal of Pathology.  149:1971-1979. 1996
1996 Inactivation of Th1 and Th2 cells by feeding ovalbuminAnnals of the New York Academy of Sciences.  778:122-132. 1996
1995 T helper 2 cells are subject to high dose oral tolerance and are not essential for its inductionJournal of Immunology.  154:5649-5655. 1995

Education And Training

  • Doctor of Philosophy in Laboratory Medicine Residency Program, Imperial College London 2000
  • Full Name

  • Elizabeth Worthey