نتائج البحث - "Eva Lenassi"

المصدر: Lenassi, E, Clayton-Smith, J, Douzgou, S, Ramsden, S C, Ingram, S, Hall, G, Hardcastle, C L, Fletcher, T A, Taylor, R L, Ellingford, J M, Newman, W D, Fenerty, C, Sharma, V, Lloyd, I C, Biswas, S, Ashworth, J L, Black, G C & Sergouniotis, P I 2020, ' Clinical utility of genetic testing in 201 preschool children with inherited eye disorders ', Genetics in Medicine, vol. 22, no. 4, pp. 745-751 . https://doi.org/10.1038/s41436-019-0722-8Test
Genet Med
Genetics in Medicine

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Pediatrics, clinical utility, albinism, Eye, Article, Cataract, Eye Abnormalities/genetics, 03 medical and health sciences, Dysgenesis, 0302 clinical medicine, Retinal Diseases, Humans, Medicine, Eye Abnormalities, Genetic Testing, Ectopia lentis, Genetics (clinical), Genetic testing, medicine.diagnostic_test, business.industry, Cataract/diagnosis, Infant, Newborn, Correction, Infant, medicine.disease, inherited eye disease, Bilateral Cataracts, 030104 developmental biology, congenital cataract, inherited retinal disease, Child, Preschool, 030221 ophthalmology & optometry, Albinism, Lens disorder, Medical genetics, Eye disorder, Retinal Diseases/diagnosis, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06a85355a32cb8ccea2d93935efba0e5Test
https://doi.org/10.1038/s41436-019-0722-8Test

6

EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders

المؤلفون: Fiona Cunningham, Tracy Fletcher, David R. FitzPatrick, Sarah E. Hunt, Panagiotis I. Sergouniotis, Ana Carvalho, Graeme C.M. Black, Claire Hardcastle, Eva Lenassi, Anja Thormann, Jamie M Ellingford, Simon C Ramsden, Andrew R Webster, Michel Michaelides

مصطلحات موضوعية: Routine testing, business.industry, Medicine, Diagnostic test, Ensembl, Computational biology, Personalized medicine, Prospective cohort study, business, OPHTHALMIC DISORDERS

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::94eafc6ae8ecbbc1a78ebf42a452c702Test
https://doi.org/10.1101/2021.07.23.21261017Test

7

North Carolina macular dystrophy: phenotypic variability and computational analysis of disease-associated non-coding variants

المؤلفون: Graeme C.M. Black, David M. McGaughey, Vinod Kumar Sharma, Eva Lenassi, Jamie M Ellingford, David J. Green, Panagiotis I. Sergouniotis, Cerys S Manning

المصدر: Green, D, Lenassi, E, Manning, C, McGaughey, D, Sharma, V, Black, G, Ellingford, J & Sergouniotis, P 2021, ' North Carolina macular dystrophy: phenotypic variability and computational analysis of disease-associated non-coding variants ', Investigative Ophthalmology and Visual Science., vol. 62, no. 7, pp. 16 . https://doi.org/10.1167/iovs.62.7.16Test
Investigative Ophthalmology & Visual Science

مصطلحات موضوعية: Epigenomics, Male, 0301 basic medicine, Visual acuity, genetic structures, Visual Acuity, gene regulatory network, chemistry.chemical_compound, 0302 clinical medicine, Corneal Dystrophies, Hereditary, Genetics, education.field_of_study, medicine.diagnostic_test, noncoding variation, Middle Aged, Macular dystrophy, transcriptional enhancer, Pedigree, Macular Lesion, Choroidal neovascularization, medicine.anatomical_structure, Child, Preschool, Female, Symptom Assessment, medicine.symptom, Tomography, Optical Coherence, Adolescent, Population, widefield retinal imaging, Biology, Retina, 03 medical and health sciences, north carolina macular dystrophy, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Eye Proteins, education, Genetic Association Studies, Genetic testing, Retinal, Histone-Lysine N-Methyltransferase, eye diseases, Ophthalmoscopy, 030104 developmental biology, chemistry, 030221 ophthalmology & optometry, sense organs, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a54dab8ec41f28b054fe88c24b8e6790Test
https://research.manchester.ac.uk/en/publications/acbfede1-271d-4c44-984f-463a9fae8f1dTest

8

North Carolina macular dystrophy: phenotypic variability and computational analysis of disease-implicated non-coding variants

المؤلفون: Vinod Kumar Sharma, David J. Green, Jamie M Ellingford, Graeme C.M. Black, Cerys S Manning, Eva Lenassi, David M. McGaughey, Panagiotis I. Sergouniotis

مصطلحات موضوعية: Genetics, education.field_of_study, Retina, Visual acuity, medicine.diagnostic_test, Population, Retinal, Biology, Phenotype, Macular Lesion, chemistry.chemical_compound, Choroidal neovascularization, medicine.anatomical_structure, chemistry, medicine, medicine.symptom, education, Genetic testing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::023d96daedd5838265efc5db8785e337Test
https://doi.org/10.1101/2021.03.05.21252975Test

9

Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease

المؤلفون: Christopher Campbell, Graeme C.M. Black, Omamah A. Jiman, Jane Ashworth, Sofia Douzgou, Rachel L. Taylor, Eva Lenassi, Forbes D C Manson, Tracy Fletcher, Stephanie Barton, Jamie M Ellingford, Claire Hardcastle, Simon C Ramsden, Jill Clayton Smith, Susmito Biswas

المصدر: Uk Inherited Retinal Disease Consortium 2020, ' Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-019-0548-5Test
European Journal of Human Genetics

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Genetic testing, Adolescent, Disease, 030105 genetics & heredity, Sensitivity and Specificity, Article, 03 medical and health sciences, chemistry.chemical_compound, Retinal Diseases, Internal medicine, Human Phenotype Ontology, medicine, Genetics, Humans, Genetics(clinical), Child, Exome, Genetics (clinical), Aged, medicine.diagnostic_test, Disease genetics, business.industry, Medical genetics, Genetic variants, High-Throughput Nucleotide Sequencing, Infant, Eye Diseases, Hereditary, Retinal, Sequence Analysis, DNA, Syndrome, Middle Aged, Phenotype, 030104 developmental biology, chemistry, Child, Preschool, Next-generation sequencing, Female, business, Genetic diagnosis

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10dd98c73ac071d9a5d792ad5a994775Test
http://www.scopus.com/inward/record.url?scp=85076856393&partnerID=8YFLogxKTest

10

An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data

المؤلفون: Julius O.B. Jacobsen, Daniel Danis, Nikolas Pontikos, Damian Smedley, Andrew R. Webster, Anthony T. Moore, Peter N. Robinson, Penpitcha Thawong, Eva Lenassi, Valentina Cipriani, Michel Michaelides, Gavin Arno, Panagiotis I. Sergouniotis

المصدر: Genes
Volume 11
Issue 4
Genes, vol 11, iss 4
Genes, Vol 11, Iss 460, p 460 (2020)

مصطلحات موضوعية: Male, 0301 basic medicine, ved/biology.organism_classification_rank.species, 030105 genetics & heredity, Whole Exome Sequencing, 2.1 Biological and endogenous factors, Exome, whole-exome sequencing, Aetiology, Genetics (clinical), Exome sequencing, variant prioritization, screening and diagnosis, High-Throughput Nucleotide Sequencing, bioinformatics, Phenotype, Detection, Benchmarking, whole-genome sequencing, inherited retinal disease, symbols, Female, human phenotype ontology, lcsh:QH426-470, rare disease, Computational biology, Biology, Article, 03 medical and health sciences, symbols.namesake, Retinal Diseases, Exome Sequencing, Human Phenotype Ontology, Genetics, Humans, Model organism, Genetic Association Studies, Whole genome sequencing, ved/biology, Human Genome, Computational Biology, Mendelian Randomization Analysis, 4.1 Discovery and preclinical testing of markers and technologies, lcsh:Genetics, Good Health and Well Being, 030104 developmental biology, phenotypic similarity, Mendelian inheritance, Software, Rare disease

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b017e13099d5f25feae0d20fd5df970Test

تنقيح النتائج