نتائج البحث - "Jamie M. Ellingford"

51

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases

المؤلفون: Jamie M, Ellingford, Bradley, Horn, Christopher, Campbell, Gavin, Arno, Stephanie, Barton, Catriona, Tate, Sanjeev, Bhaskar, Panagiotis I, Sergouniotis, Rachel L, Taylor, Keren J, Carss, Lucy F L, Raymond, Michel, Michaelides, Simon C, Ramsden, Andrew R, Webster, Graeme C M, Black

المصدر: Journal of Medical Genetics

مصطلحات موضوعية: DNA Copy Number Variations, High-Throughput Nucleotide Sequencing, Membrane Proteins, Ribonucleoproteins, Small Nuclear, Workflow, Cytoskeletal Proteins, Gene Frequency, Gene Duplication, inherited retinal disease, parasitic diseases, Retinal Dystrophies, molecular genetics, Humans, Genetic Predisposition to Disease, next-generation sequencing, Copy-Number Variation, Algorithms, Adaptor Proteins, Signal Transducing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::79b804a3d1ed082a28bb88fee3d76014Test
https://pubmed.ncbi.nlm.nih.gov/29074561Test

52

Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation

المؤلفون: Andrea L, Vincent, Nandoun, Abeysekera, Katherine A, van Bysterveldt, Verity F, Oliver, Jamie M, Ellingford, Stephanie, Barton, Graeme Cm, Black

المصدر: Clinicalexperimental ophthalmology. 45(9)

مصطلحات موضوعية: Adult, Male, Cyclic Nucleotide Phosphodiesterases, Type 6, DNA Mutational Analysis, Genetic Variation, DNA, Middle Aged, Polynesia, Pedigree, Young Adult, Phenotype, Mutation, Retinal Dystrophies, Humans, Female, Genetic Testing, Prospective Studies, Retinitis Pigmentosa, Aged, Follow-Up Studies, New Zealand

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::d1921e9e6549545c23b075ffd261a074Test
https://pubmed.ncbi.nlm.nih.gov/29271598Test

53

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature

المؤلفون: David R. FitzPatrick, Graeme C.M. Black, Sarah Waller, Alison M. Meynert, Deirdre E. Donnelly, Jill E. Urquhart, I Chris Lloyd, Jill Clayton-Smith, Gisela Wilcox, Rachel L. Taylor, Jamie M Ellingford, Charu Deshpande, Mark T. Handley, Helen Mundy, Christopher Campbell

المصدر: Taylor, R L, Handley, M T, Waller, S, Campbell, C, Urquhart, J, Meynert, A M, Ellingford, J M, Donnelly, D, Wilcox, G, Lloyd, I C, Mundy, H, FitzPatrick, D R, Deshpande, C, Clayton-Smith, J & Black, G C 2017, ' Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature ', Investigative Ophthalmology & Visual Science, vol. 58, no. 1, pp. 594-603 . https://doi.org/10.1167/iovs.16-21026Test
Investigative ophthalmology & visual science
Taylor, R L, Handley, M T, Waller, S, Campbell, C, Urquhart, J, Meynert, A M, Ellingford, J M, Donnelly, D, Wilcox, G, Lloyd, I C, Mundy, H, FitzPatrick, D R, Deshpande, C, Clayton-Smith, J & Black, G C 2017, ' Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature ', Investigative ophthalmology & visual science, vol. 58, no. 1, pp. 594-603 . https://doi.org/10.1167/iovs.16-21026Test

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Proband, Heterozygote, Time Factors, Adolescent, DNA Copy Number Variations, DNA Mutational Analysis, Very long chain fatty acid, Disease, Biology, Bioinformatics, Short stature, Cataract, Article, Peroxisomal Disorders, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, genomics, medicine, Humans, PEX11B, Copy-number variation, Child, Genetics, peroxisome biogenesis disorder, Membrane Proteins, DNA, Peroxisome, medicine.disease, Phenotype, Pedigree, Developmental disorder, 030104 developmental biology, congenital cataract, chemistry, Child, Preschool, Mutation, Female, next-generation sequencing, medicine.symptom, Follow-Up Studies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9659220464b7f8498aea1c42ed3f7b5Test
https://hdl.handle.net/20.500.11820/f9b17085-9d01-4e54-9b95-58c2fc318024Test

54

Validation of copy number variation analysis for next-generation sequencing diagnostics

المؤلفون: Rachel L. Taylor, Binay Panda, William G. Newman, Michel Michaelides, Saurabh Gupta, Stephanie Barton, Sanjeev S. Bhaskar, Simon C Ramsden, Panagiotis I. Sergouniotis, Graeme C.M. Black, Christopher Campbell, Andrew R. Webster, Janine A. Lamb, Bradley Horn, Jamie M Ellingford

المصدر: Ellingford, J, Campbell, C, Barton, S, Bhaskar, S, Gupta, S, Taylor, R, Sergouniotis, P I, Horn, B, Lamb, J, Michaelides, M, Webster, A R, Newman, W, Panda, B, Ramsden, S & Black, G 2017, ' Validation of copy number variation analysis for next-generation sequencing diagnostics ', European Journal of Human Genetics, vol. 25, pp. 719-724 . https://doi.org/10.1038/ejhg.2017.42Test

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::734802851fa481b138c0494a23e882bdTest
https://pure.manchester.ac.uk/ws/files/51789007/Ellingford_et_al_accepted.pdfTest

55

Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease

المصدر: Ophthalmology. 124(7)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6601c8a99759371b96b74869be9566e9Test
https://pubmed.ncbi.nlm.nih.gov/28341476Test

56

Molecular findings from 537 individuals with inherited retinal disease

المؤلفون: Jamie M, Ellingford, Stephanie, Barton, Sanjeev, Bhaskar, James, O'Sullivan, Simon G, Williams, Janine A, Lamb, Binay, Panda, Panagiotis I, Sergouniotis, Rachel L, Gillespie, Stephen P, Daiger, Georgina, Hall, Theodora, Gale, I Christopher, Lloyd, Paul N, Bishop, Simon C, Ramsden, Graeme C M, Black

المصدر: Journal of Medical Genetics

مصطلحات موضوعية: retinitis pigmentosa, parasitic diseases, Genotype-Phenotype Correlations, next-generation sequencing, Molecular genetics, bioinformatics, inherited retinal dystrophy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::d0c629df9fc5ab51beb99c3f85212433Test
https://pubmed.ncbi.nlm.nih.gov/27208204Test

57

Whole genome sequencing increases molecular diagnostic yield compared with current diagnostic testing for inherited retinal disease

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

58

Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility

المساهمون: Ophthalmology

المصدر: Human Molecular Genetics, 25, 4546-4555
Scopus-Elsevier
Human Molecular Genetics, 25(20), 4546-4555. Oxford University Press
Human molecular genetics, vol. 25, no. 20, pp. 4546-4555
Human Molecular Genetics, 25, 20, pp. 4546-4555

مصطلحات موضوعية: 0301 basic medicine, Retinal degeneration, Male, DNA Mutational Analysis, Gene Expression, medicine.disease_cause, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Mice, 0302 clinical medicine, Testis, Genetics (clinical), Genetics, Mutation, Homozygote, Genetic disorder, General Medicine, Middle Aged, Spermatozoa, Pedigree, medicine.anatomical_structure, Organ Specificity, Sperm Motility, Female, Photoreceptor Cells, Vertebrate, Gene isoform, Adult, Adolescent, Biology, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, medicine, Animals, Humans, Allele, Eye Proteins, Molecular Biology, Gene, Infertility, Male, Aged, Retina, Dystrophy, medicine.disease, Molecular biology, Rats, Disease Models, Animal, 030104 developmental biology, Carrier Proteins, 030217 neurology & neurosurgery, Cone-Rod Dystrophies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86735e0d0550260dadf7eb91ef7e54b7Test

59

Genome sequencing identifies a large deletion at 13q32.1 as the cause of microcoria and childhood-onset glaucoma

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

المصدر: Acta Ophthalmologica. 95:e249-e250

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

60

Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome

المؤلفون: James O'Sullivan, Simon G. Williams, Sanjeev S. Bhaskar, Graeme C.M. Black, Jamie M Ellingford, Rachel Lennon, Adrian S. Woolf, Georgina Hall, Panagiotis I. Sergouniotis, Simon C Ramsden, I. Christopher Lloyd, Kate A Hillman

المصدر: Lancet

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42cf7565424ebd555076b2d845ef166bTest
https://doi.org/10.1016/s0140-6736Test(15)60496-2

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