المؤلفون: Jamie M Ellingford, Huw B. Thomas, Raymond T. O'Keefe, Glenda M. Beaman, Sofia Douzgou, William G. Newman, Katrina Prescott, Katherine A. Wood, Emma Hobson

المصدر: Newman, W, Wood, K, O'Keefe, R, Ellingford, J, Thomas, H, Douzgou, S, Beaman, G, Hobson, E & Prescott, K 2022, ' Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome ', Clinical Genetics, vol. 101, no. 2, pp. 255-259 . https://doi.org/10.1111/cge.14082Test

مصطلحات موضوعية: Heart Defects, Congenital, Spliceosome, Genotype, RNA Splicing, Biology, Deafness, Choanal Atresia, Exon, splicing, Rare Disease, Genetics, Humans, Genetic Predisposition to Disease, Promoter Regions, Genetic, Transcription factor, Genetics (clinical), Alleles, Genetic Association Studies, Ribonucleoprotein, U5 Small Nuclear, Binding Sites, burn mckeown syndrome, TNXL4A, Facies, Promoter, Pedigree, DNA binding site, Phenotype, RNA splicing, Mutation, Female, Trans-acting, Minigene, Protein Binding, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d21d6a68dc4a89c7713b820bc8c4feeTest
https://pubmed.ncbi.nlm.nih.gov/34713892Test

المؤلفون: Iain A. Bruce, Panagiotis I. Sergouniotis, Eva Lenassi, Graeme C.M. Black, Simon C Ramsden, Leslie P Molina-Ramírez, Jamie M Ellingford

المصدر: Molina Ramirez, L, Lenassi, E, Ellingford, J, Sergouniotis, P, Ramsden, S, Bruce, I & Black, G 2020, ' Establishing genotype-phenotype correlation in USH2A-related disorders to personalise audiological surveillance and rehabilitation. ', Otology and Neurotology, vol. 41, no. 4, pp. 431-437 . https://doi.org/10.1097/MAO.0000000000002588Test

مصطلحات موضوعية: Adult, medicine.medical_specialty, Genotype, Hearing loss, medicine.medical_treatment, Usher syndrome, Disease, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, otorhinolaryngologic diseases, medicine, Humans, Allele, 030223 otorhinolaryngology, Genetic Association Studies, Genetic testing, Extracellular Matrix Proteins, Rehabilitation, medicine.diagnostic_test, Genetic heterogeneity, business.industry, medicine.disease, Personalized medicine, Sensory Systems, Retinitis pigmentosa, Otorhinolaryngology, Mutation, Sensorineural hearing loss, Neurology (clinical), USH2A -related disease, medicine.symptom, business, Usher Syndromes, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d490f4016416544bb265296bc7ddc011Test
https://pubmed.ncbi.nlm.nih.gov/32176120Test

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: 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: 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: Panagiotis I. Sergouniotis, Cecilia Fenerty, Graeme C.M. Black, James O'Sullivan, Jamie M Ellingford

المصدر: Acta Ophthalmologica. 95:e249-e250

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Genotype, Glaucoma, Biology, DNA sequencing, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Pupil Disorders, medicine, Humans, Point Mutation, Genetic Testing, Child, Eye Proteins, Genetics, Chromosomes, Human, Pair 13, General Medicine, Microcoria, medicine.disease, Pedigree, Ophthalmology, 030104 developmental biology, 030221 ophthalmology & optometry, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1577979856176d2044cc6e34b6f25422Test
https://doi.org/10.1111/aos.13246Test