المؤلفون: Panagiotis I. Sergouniotis, Graeme C.M. Black, Nicholas Lench, Simon C Ramsden, Simon C. Lovell, Shalaw R. Sallah, Jamie M Ellingford

المصدر: Sallah, S R, Ellingford, J M, Sergouniotis, P I, Ramsden, S C, Lench, N, Lovell, S C & Black, G C 2021, ' Improving the clinical interpretation of missense variants in X linked genes using structural analysis ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2020-107404Test

مصطلحات موضوعية: 0301 basic medicine, missense, Computer science, Mutation, Missense, Computational biology, 030105 genetics & heredity, 03 medical and health sciences, X-Linked Genes, Genes, X-Linked, Genetic variation, Genetics, Missense mutation, Humans, Genetics (clinical), clinical decision-making, structural homology, business.industry, Point mutation, Computational Biology, Pathogenicity, Prediction algorithms, 030104 developmental biology, genetic variation, Mutation (genetic algorithm), Personalized medicine, mutation, point mutation, protein, business, Algorithms

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ac61f7e02aa3088923c97ec452f8b3cTest
https://pubmed.ncbi.nlm.nih.gov/33766936Test

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

المؤلفون: Robert B. Hufnagel, Gavin Arno, Jamie M Ellingford

المصدر: Genes

مصطلحات موضوعية: 0301 basic medicine, Genotype, Population, Gene Expression, Penetrance, 030105 genetics & heredity, Biology, 03 medical and health sciences, chemistry.chemical_compound, Retinal Diseases, parasitic diseases, Genetic variation, Genetics, Humans, education, Genetic Association Studies, Genetics (clinical), education.field_of_study, Genetic Variation, Retinal, respiratory system, Phenotype, Editorial, Genetics, Population, 030104 developmental biology, chemistry, human activities

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::604d83a26f826e034c47bf4dea274aacTest
https://doi.org/10.3390/genes11111274Test

المؤلفون: Nicole Revencu, Jill E. Urquhart, Deepthi De Silva, Sheela Nampoothiri, Sanjeev S. Bhaskar, Simon G. Williams, Jill Clayton-Smith, Elena Chervinsky, Mohnish Suri, Rebecca Roberts, Stavit A. Shalev, Yves Sznajer, Romesh Gunasekera, Jamie M Ellingford

المصدر: American Journal of Medical Genetics Part A. 170:1216-1224

مصطلحات موضوعية: 0301 basic medicine, Genetics, Mutation, Genetic heterogeneity, 3MC syndrome, business.industry, Genitourinary Tract Anomalies, 030105 genetics & heredity, medicine.disease_cause, medicine.disease, 03 medical and health sciences, Postnatal growth deficiency, 030104 developmental biology, medicine, Tail, Hypertelorism, medicine.symptom, business, Genetics (clinical), Michels syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5559cad39f439a6099aa258077e18472Test
https://doi.org/10.1002/ajmg.a.37564Test

المؤلفون: Stephen A Roberts, Rahat Perveen, William G. Newman, Georgina Hall, Simon C Ramsden, Simon G. Williams, Andrea H. Németh, Graeme C.M. Black, Rick Tearle, Stephanie Barton, Janine A. Lamb, James O'Sullivan, Jamie M Ellingford, Sanjeev S. Bhaskar, Rick Leach, Panagiotis I. Sergouniotis, Stuart Bayliss, Paul N. Bishop

المصدر: Ellingford, J, Barton, S, Bhaskar, S, Williams, S, Sergouniotis, P, O'Sullivan, J, Lamb, J, Perveen, R, Hall, G, Newman, W, Bishop, P, Roberts, S, Leach, R, Tearle, R, Bayliss, S, Ramsden, S, Nemeth, A H & Black, G 2016, ' Whole genome sequencing increases molecular diagnostic yield compared with current diagnostic testing for inherited retinal disease ', Ophthalmology, vol. 123, no. 5, pp. 1143–1150 . https://doi.org/10.1016/j.ophtha.2016.01.009Test
Ophthalmology

مصطلحات موضوعية: 0301 basic medicine, Male, Genotype, Sequence analysis, WGS, whole genome sequencing, 030105 genetics & heredity, Biology, Genome, Polymorphism, Single Nucleotide, Sensitivity and Specificity, DNA sequencing, 03 medical and health sciences, Retinal Diseases, Humans, RP, retinitis pigmentosa, Exome sequencing, Retrospective Studies, Whole genome sequencing, Genetics, business.industry, SNV, single nucleotide variant, MCGM, Manchester Centre for Genomic Medicine, High-Throughput Nucleotide Sequencing, Eye Diseases, Hereditary, Sequence Analysis, DNA, Molecular diagnostics, CI, confidence interval, NGS, next-generation sequencing, Ophthalmology, 030104 developmental biology, Molecular Diagnostic Techniques, Female, Original Article, Personalized medicine, business, WES, whole exome sequencing, IRD, inherited retinal disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed636f1de891f96e5d07d7549938e2d6Test
https://doi.org/10.1016/j.ophtha.2016.01.009Test

المؤلفون: Georgina Hall, Sanjeev S. Bhaskar, Rahat Perveen, Simon C. Lovell, Panagiotis I. Sergouniotis, Graeme C.M. Black, Christopher Campbell, Simon C Ramsden, Jamie M Ellingford, Stephanie Barton, Sarah Waller, Rachel L. Gillespie

المصدر: Sergouniotis, P I, Barton, S J, Waller, S, Perveen, R, Ellingford, J M, Campbell, C, Hall, G, Gillespie, R L, Bhaskar, S S, Ramsden, S C, Black, G C & Lovell, S C 2016, ' The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity ', Orphanet Journal of Rare Diseases, vol. 11, no. 1, 125 . https://doi.org/10.1186/s13023-016-0505-0Test
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: 0301 basic medicine, Proband, Reading Frames, Eye Diseases, In silico, Context (language use), In-frame insertions/deletions, 030105 genetics & heredity, Biology, Cataract, 03 medical and health sciences, INDEL Mutation, Cataracts, Retinal Dystrophies, Childhood cataract, medicine, Humans, Genetics(clinical), Pharmacology (medical), Indel, Genetics (clinical), Genetics, Medicine(all), Genetic heterogeneity, Research, Retinal dystrophy, Computational Biology, Homology modeling, General Medicine, medicine.disease, Inherited eye disease, Human genetics, 030104 developmental biology, Eye disorder

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd8f30c1979f57a3c6d909aa9bd0cbffTest