المؤلفون: David J. Green, Shalaw R. Sallah, Jamie M. Ellingford, Simon C. Lovell, Panagiotis I. Sergouniotis

المصدر: Genes, Vol 11, Iss 2, p 179 (2020)

مصطلحات موضوعية: inherited eye disease, inherited retinal disease, variable expressivity, incomplete penetrance, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/11/2/179Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/93f1e396c1694f9e85f18862910da17bTest

المؤلفون: Shalaw R. Sallah, Panagiotis I. Sergouniotis, Claire Hardcastle, Simon Ramsden, Andrew J. Lotery, Nick Lench, Simon C. Lovell, Graeme C.M. Black

المصدر: The Journal of molecular diagnostics : JMD. 24(12)

مصطلحات موضوعية: Virulence, Calcium Channels, L-Type, Night Blindness, Mutation, Molecular Medicine, Humans, Eye Diseases, Hereditary, Pathology and Forensic Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::579657f0506833b9b9858aea35c92973Test
https://pubmed.ncbi.nlm.nih.gov/36191840Test

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: Shalaw R. Sallah, David J. Green, Panagiotis I. Sergouniotis, Simon C. Lovell, Jamie M Ellingford

المصدر: Genes
Volume 11
Issue 2
Green, D J, Sallah, S R, Ellingford, J M, Lovell, S C & Sergouniotis, P I 2020, ' Variability in gene expression is associated with incomplete penetrance in inherited eye disorders ', Genes, vol. 11, no. 2, 179 . https://doi.org/10.3390/genes11020179Test
Genes, Vol 11, Iss 2, p 179 (2020)

مصطلحات موضوعية: 0301 basic medicine, Eye Diseases, Gene Expression, Penetrance, Gene mutation, Genome, Transcriptome, 0302 clinical medicine, Genotype, Databases, Genetic, Gene expression, Genetics(clinical), Inherited retinal disease, Mendelian disorders, Genetics (clinical), Skin, Genetics, education.field_of_study, incomplete penetrance, Brain, Inherited eye disease, Blood, Organ Specificity, inherited retinal disease, symbols, lcsh:QH426-470, Population, Biology, Retina, Article, 03 medical and health sciences, symbols.namesake, Retinal Diseases, variable expressivity, Variable expressivity, Humans, Genetic Predisposition to Disease, education, Gene, Incomplete penetrance, Fibroblasts, inherited eye disease, lcsh:Genetics, 030104 developmental biology, Gene Ontology, Gene Expression Regulation, Mendelian inheritance, Eye disorder, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db8ea5d09a9072175463eb0ba7dff331Test
https://doi.org/10.1101/2020.01.28.915504Test

المؤلفون: Shalaw R. Sallah, Simon C Ramsden, Graeme C.M. Black, Panagiotis I. Sergouniotis, Mitra Kabir, Stephanie Barton, Nicholas Lench, Simon C. Lovell, Jamie M Ellingford, Amro Safadi, Rachel L. Taylor

المصدر: European Journal of Human Genetics
Sallah, S R, Sergouniotis, P I, Barton, S, Ramsden, S, Taylor, R L, Safadi, A, Kabir, M, Ellingford, J M, Lench, N, Lovell, S C & Black, G C M 2020, ' Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants : CACNA1F as an exemplar ', European Journal of Human Genetics, vol. 28, no. 9, pp. 1274-1282 . https://doi.org/10.1038/s41431-020-0623-yTest

مصطلحات موضوعية: Genetic testing, Calcium Channels, L-Type, Computer science, In silico, Computational biology, Homology (biology), DNA sequencing, Article, Machine Learning, 03 medical and health sciences, 0302 clinical medicine, Genetics, Animals, Humans, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Receiver operating characteristic, Calcium Channels, L-Type/chemistry, Sequence Alignment/methods, Genetic variants, Sequence Analysis, DNA, Incomplete congenital stationary night blindness, Pathogenicity, Sequence Analysis, DNA/methods, Structural Homology, Protein, Mutation, Precision and recall, Genetic databases, Sequence Alignment, Genetic Testing/methods, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd2c6a1665947a14b79b9929408165c7Test
https://pubmed.ncbi.nlm.nih.gov/32313206Test