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Author Details

Eleanor G Seaby
University of Southampton
2014
43
15
PMIDPaper TitleJournal TitlePublished Year
36006803NOD2 in Crohn's Disease-Unfinished Business.J Crohns Colitis2023
37633279Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data.Am J Hum Genet2023
37628633A Role for Genetic Modifiers in Tubulointerstitial Kidney Diseases.Genes (Basel)2023
37079872The Pediatric Crohn Disease Morbidity Index (PCD-MI): Development of a Tool to Assess Long-Term Disease Burden Using a Data-Driven Approach.J Pediatr Gastroenterol Nutr2023
36945502Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data.medRxiv2023
37208336Impaired expression of metallothioneins contributes to allergen-induced inflammation in patients with atopic dermatitis.Nat Commun2023
36778464A panel-agnostic strategy 'HiPPo' improves diagnostic efficiency in the UK Genome Medicine Service.medRxiv2023
36148635A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end-stage kidney disease.Clin Genet2023
36161322Prediction of Crohn's Disease Stricturing Phenotype Using a NOD2-derived Genomic Biomarker.Inflamm Bowel Dis2023
36121441Response to Ramos et al.Genet Med2022
35678782Rare pathogenic variants in WNK3 cause X-linked intellectual disability.Genet Med2022
35759535Treatment of Multisystem Inflammatory Syndrome in Children: Understanding Differences in Results of Comparative Effectiveness Studies.ACR Open Rheumatol2022
35532742A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes.Genet Med2022
36408368A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.HGG Adv2022
35904126De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.Hum Mutat2022
35903804The immunopathogenesis of SARS-CoV-2 infection in children: diagnostics, treatment and prevention.Clin Transl Immunology2022
34373650Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans.Nature2021
33536625Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans.Nature2021
33508234De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.Am J Hum Genet2021
33772158Identification of novel locus associated with coronary artery aneurysms and validation of loci for susceptibility to Kawasaki disease.Eur J Hum Genet2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
34133854Treatment of Multisystem Inflammatory Syndrome in Children.N Engl J Med2021
34220947Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes.Front Genet2021
31562974The Career Impact of the National Undergraduate Neuroanatomy Competition.World Neurosurg2020
32461654The mutational constraint spectrum quantified from variation in 141,456 humans.Nature2020
32393978Challenges in the diagnosis and discovery of rare genetic disorders using contemporary sequencing technologies.Brief Funct Genomics2020
30332529The Efficacy of Frontline Near-Peer Teaching in a Modern Medical Curriculum.Anat Sci Educ2019
31070705Identification of disease-associated loci using machine learning for genotype and network data integration.Bioinformatics2019
29193635Inactivation of AMMECR1 is associated with growth, bone, and heart alterations.Hum Mutat2018
30376835Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease.BMC Nephrol2018
29573152The benefits of being a near-peer teacher.Clin Teach2018
28993886Thrombotic microangiopathy following haematopoietic stem cell transplant.Pediatr Nephrol2018
27811305<i>AMMECR1</i>: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis.J Med Genet2017
28589114Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm.Front Pediatr2017
27037749Can medical students accurately predict their learning? A study comparing perceived and actual performance in neuroanatomy.Anat Sci Educ2016
26654982Exome sequencing explained: a practical guide to its clinical application.Brief Funct Genomics2016
26346198Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis.Nephrol Dial Transplant2016
27456059Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.Sci Rep2016
27418539Mutations specific to the Rac-GEF domain of <i>TRIO</i> cause intellectual disability and microcephaly.J Med Genet2016
27293772Progressive myoclonic epilepsy with Fanconi syndrome.JRSM Open2016
27381324Commercial chicken breeds exhibit highly divergent patterns of linkage disequilibrium.Heredity (Edinb)2016
27097352Genome-wide Association Studies in Infectious Diseases.Pediatr Infect Dis J2016
24252791Bullous herpes zoster.J Pediatr2014
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Institute for Molecular Medicine Finland (FIMM), University of Helsinki
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Vertex Pharmaceuticals
Co-authored papers 3
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University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
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