نتائج البحث - "Duff-Farrier, Celia"

1

دورية أكاديمية

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

المؤلفون: Kennedy, Joanna, Goudie, David, Blair, Edward, Chandler, Kate, Joss, Shelagh, McKay, Victoria, Green, Andrew, Armstrong, Ruth, Lees, Melissa, Kamien, Benjamin, Hopper, Bruce, Tan, Tiong Yang, Yap, Patrick, Stark, Zornitza, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Macnamara, Ellen, Murphy, Jennifer L, McCormick, Elizabeth, Hakonarson, Hakon, Falk, Marni J, Li, Dong, Blackburn, Patrick, Klee, Eric, Babovic-Vuksanovic, Dusica, Schelley, Susan, Hudgins, Louanne, Kant, Sarina, Isidor, Bertrand, Cogne, Benjamin, Bradbury, Kimberley, Williams, Mark, Patel, Chirag, Heussler, Helen, Duff-Farrier, Celia, Lakeman, Phillis, Scurr, Ingrid, Kini, Usha, Elting, Mariet, Reijnders, Margot, Schuurs-Hoeijmakers, Janneke, Wafik, Mohamed, Blomhoff, Anne, Ruivenkamp, Claudia AL, Nibbeling, Esther, Dingemans, Alexander JM, Douine, Emilie D, Nelson, Stanley F, Hempel, Maja, Bierhals, Tatjana, Lessel, Davor, Johannsen, Jessika, Arboleda, Valerie A, Newbury-Ecob, Ruth

المصدر: Genetics in Medicine. 21(4)

مصطلحات موضوعية: Biological Sciences, Genetics, Prevention, Brain Disorders, Rare Diseases, Pediatric, Clinical Research, Digestive Diseases, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Child, Child, Preschool, Chromosome Deletion, Developmental Disabilities, Exome, Female, Genetic Association Studies, Genotype, Histone Acetyltransferases, Humans, Infant, Intellectual Disability, Male, Microcephaly, Mutation, Phenotype, Protein Isoforms, Young Adult, genetic diagnosis, phenotypic spectrum, KAT6A syndrome, chromatin modifiers, intellectual disability, DDD Study, KAT6A syndrome, chromatin modifiers, intellectual disability, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/79s761gbTest

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2

دورية أكاديمية

Recommendations for clinical interpretation of variants found in non-coding regions of the genome

وصف الملف: text; spreadsheet; image

العلاقة: https://eprints.soton.ac.uk/467630/1/2021.12.28.21267792v1.full.pdfTest; https://eprints.soton.ac.uk/467630/2/Additional_file_1.xlsxTest; https://eprints.soton.ac.uk/467630/3/Additional_file_2.pdfTest; https://eprints.soton.ac.uk/467630/4/Figure1.pngTest; Ellingford, Jamie M., Ahn, Joo Wook, Bagnall, Richard D, Baralle, Diana, Barton, Stephanie, Campbell, Chris, Downes, Kate, Ellard, Sian, Duff-Farrier, Celia, FitzPatrick, David R., Greally, John M, Ingles, Jodie, Krishnan, Neesha, Lord, Jenny, Martin, Hilary C, Newman, William G., O'Donnell-Luria, Anne, Ramsden, Simon C., Rehm, Heidi L., Richardson, Ebony, Singer-Berk, Moriel, Taylor, Jenny C., Williams, Maggie, Wood, Jordan C, Wright, Caroline F., Steven M, Harrison and Whiffin, Nicola (2022) Recommendations for clinical interpretation of variants found in non-coding regions of the genome. Genome Medicine, 14 (1), [73]. (doi:10.1186/s13073-022-01073-3 ).

الإتاحة: https://doi.org/10.1186/s13073-022-01073-3Test
https://eprints.soton.ac.uk/467630Test/
https://eprints.soton.ac.uk/467630/1/2021.12.28.21267792v1.full.pdfTest
https://eprints.soton.ac.uk/467630/2/Additional_file_1.xlsxTest
https://eprints.soton.ac.uk/467630/3/Additional_file_2.pdfTest
https://eprints.soton.ac.uk/467630/4/Figure1.pngTest

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3

دورية أكاديمية

Correction: KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants (Genetics in Medicine, (2019), 21, 4, (850-860), 10.1038/s41436-018-0259-2)

المؤلفون: Kennedy, Joanna, Goudie, David, Blair, Edward, Chandler, Kate, Joss, Shelagh, McKay, Victoria, Green, Andrew, Armstrong, Ruth, Lees, Melissa, Kamien, Benjamin, Hopper, Bruce, Tan, Tiong Yang, Yap, Patrick, Stark, Zornitza, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Macnamara, Ellen, Murphy, Jennifer L., McCormick, Elizabeth, Hakonarson, Hakon, Falk, Marni J., Li, Dong, Blackburn, Patrick, Klee, Eric, Babovic-Vuksanovic, Dusica, Schelley, Susan, Hudgins, Louanne, Kant, Sarina, Isidor, Bertrand, Cogne, Benjamin, Bradbury, Kimberley, Williams, Mark, Patel, Chirag, Heussler, Helen, Duff-Farrier, Celia, Lakeman, Phillis, Scurr, Ingrid, Kini, Usha, Elting, Mariet, Reijnders, Margot, Schuurs-Hoeijmakers, Janneke, Wafik, Mohamed, Blomhoff, Anne, Ruivenkamp, Claudia A. L., Nibbeling, Esther, Dingemans, Alexander J. M., Douine, Emilie D., Nelson, Stanley F., Hempel, Maja, Bierhals, Tatjana, Lessel, Davor, Johannsen, Jessika, Arboleda, Valerie A., Newbury-Ecob, Ruth

المصدر: Kennedy , J , Goudie , D , Blair , E , Chandler , K , Joss , S , McKay , V , Green , A , Armstrong , R , Lees , M , Kamien , B , Hopper , B , Tan , T Y , Yap , P , Stark , Z , Okamoto , N , Miyake , N , Matsumoto , N , Macnamara , E , Murphy , J L , McCormick , E , Hakonarson , H , Falk , M J , Li , D , Blackburn , P , ....

العلاقة: https://research.vumc.nl/en/publications/fa0da8e1-b08a-4d21-abfd-0966d2941410Test

الإتاحة: https://doi.org/10.1038/s41436-020-00944-7Test
https://doi.org/10.1038/s41436-018-0259-2Test
https://research.vumc.nl/en/publications/fa0da8e1-b08a-4d21-abfd-0966d2941410Test
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85089491461&origin=inwardTest
https://www.ncbi.nlm.nih.gov/pubmed/32814847Test

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4

Additional file 2 of Recommendations for clinical interpretation of variants found in non-coding regions of the genome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f4169f22fe38e0e0f52cc1b53791676Test

5

Recommendations for clinical interpretation of variants found in non-coding regions of the genome.

المصدر: essn: 1756-994X ; nlmid: 101475844

مصطلحات موضوعية: Gene regulation, Variant Interpretation, Non-coding Variation, Regulatory Sequences, Nucleic Acid, Open Reading Frames, Genome, Genetic Variation, Genome-Wide Association Study

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/340271Test

الإتاحة: https://doi.org/10.17863/CAM.87697Test
https://www.repository.cam.ac.uk/handle/1810/340271Test

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6

دورية أكاديمية

A pathogenicity determinant maps to the N-terminal coat protein region of the Pepino mosaic virus genome

المؤلفون: Duff-Farrier, Celia R A, Bailey, Andy M, Boonham, Neil, Foster, Gary D

المصدر: Duff-Farrier , C R A , Bailey , A M , Boonham , N & Foster , G D 2015 , ' A pathogenicity determinant maps to the N-terminal coat protein region of the Pepino mosaic virus genome ' , Molecular Plant Pathology , vol. 16 , no. 3 , pp. 308-315 . https://doi.org/10.1111/mpp.12184Test

مصطلحات موضوعية: Coat protein, Infectious clone, Nicotiana benthamiana, Pathogenicity determinant, Pepino mosaic virus, Potexvirus, Yeast homologous recombination

وصف الملف: application/pdf

العلاقة: https://research-information.bris.ac.uk/en/publications/9299780a-1b8e-4ee9-9f50-99cc77cbef7cTest

الإتاحة: https://doi.org/10.1111/mpp.12184Test
https://hdl.handle.net/1983/9299780a-1b8e-4ee9-9f50-99cc77cbef7cTest
https://research-information.bris.ac.uk/en/publications/9299780a-1b8e-4ee9-9f50-99cc77cbef7cTest
https://research-information.bris.ac.uk/ws/files/89329271/Rx_paper.pdfTest
http://www.scopus.com/inward/record.url?scp=84924665697&partnerID=8YFLogxKTest

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7

دورية أكاديمية

Evidence for different, host-dependent functioning of Rx against both wild-type and recombinant Pepino mosaic virus

المؤلفون: Duff-Farrier, Celia R A, Candresse, Thierry, Bailey, Andy M., Boonham, Neil, Foster, Gary D.

المصدر: Duff-Farrier , C R A , Candresse , T , Bailey , A M , Boonham , N & Foster , G D 2015 , ' Evidence for different, host-dependent functioning of Rx against both wild-type and recombinant Pepino mosaic virus ' , Molecular Plant Pathology , vol. 17 , no. 1 , pp. 120-126 . https://doi.org/10.1111/mpp.12256Test

مصطلحات موضوعية: ELISA, Infectious clone, Pepino mosaic virus, Potexvirus, Resistance breaking, Rx gene, Site-directed mutagenesis

وصف الملف: application/pdf

العلاقة: https://research-information.bris.ac.uk/en/publications/86d8b61d-3b21-497b-9fe6-b00e86ce42cdTest

الإتاحة: https://doi.org/10.1111/mpp.12256Test
https://hdl.handle.net/1983/86d8b61d-3b21-497b-9fe6-b00e86ce42cdTest
https://research-information.bris.ac.uk/en/publications/86d8b61d-3b21-497b-9fe6-b00e86ce42cdTest
https://research-information.bris.ac.uk/ws/files/74587744/CDF_correctedRx_MPP.pdfTest
http://www.scopus.com/inward/record.url?scp=84957850866&partnerID=8YFLogxKTest

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8

دورية أكاديمية

KAT6A Syndrome:genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

المؤلفون: Kennedy, Joanna, Goudie, David, Blair, Edward, Chandler, Kate, Joss, Shelagh, McKay, Victoria, Green, Andrew, Armstrong, Ruth, Lees, Melissa, Kamien, Benjamin, Hopper, Bruce, Tan, Tiong Yang, Yap, Patrick, Stark, Zornitza, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Macnamara, Ellen, Murphy, Jennifer L, McCormick, Elizabeth, Hakonarson, Hakon, Falk, Marni J, Li, Dong, Blackburn, Patrick, Klee, Eric, Babovic-Vuksanovic, Dusica, Schelley, Susan, Hudgins, Louanne, Kant, Sarina, Isidor, Bertrand, Cogne, Benjamin, Bradbury, Kimberley, Williams, Mark, Patel, Chirag, Heussler, Helen, Duff-Farrier, Celia, Lakeman, Phillis, Scurr, Ingrid, Kini, Usha, Elting, Mariet, Reijnders, Margot, Schuurs-Hoeijmakers, Janneke, Wafik, Mohamed, Blomhoff, Anne, Ruivenkamp, Claudia A. L., Nibbeling, Esther, Dingemans, Alexander J. M., Douine, Emilie D., Nelson, Stanley F., Arboleda, Valerie A., Newbury-Ecob, Ruth

المصدر: Deciphering Developmental Disorders (DDD) Study , Kennedy , J , Goudie , D , Blair , E , Chandler , K , Joss , S , McKay , V , Green , A , Armstrong , R , Lees , M , Kamien , B , Hopper , B , Tan , T Y , Yap , P , Stark , Z , Okamoto , N , Miyake , N , Matsumoto , N , Macnamara , E , Murphy , J L , McCormick , E , Hakonarson , H , Falk , M J , Li , ....

مصطلحات موضوعية: KAT6A syndrome, chromatin modifiers, intellectual disability, genetic diagnosis, phenotypic spectrum, /dk/atira/pure/subjectarea/asjc/2700/2716, name=Genetics(clinical)

العلاقة: https://discovery.dundee.ac.uk/en/publications/d3084c02-f3c8-4c36-85d4-05c9a4530cacTest

الإتاحة: https://doi.org/10.1038/s41436-018-0259-2Test
https://discovery.dundee.ac.uk/en/publications/d3084c02-f3c8-4c36-85d4-05c9a4530cacTest
http://www.scopus.com/inward/record.url?scp=85053824960&partnerID=8YFLogxKTest

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9

دورية أكاديمية

Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient

المؤلفون: Willoughby, Josh, Duff‐Farrier, Celia, Desurkar, Archana, Kurian, Manju, Raghavan, Ashok, Balasubramanian, Meena

المصدر: American Journal of Medical Genetics Part A ; volume 176, issue 5, page 1049-1054 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.38656Test

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10

دورية أكاديمية

A splice-site variant in ANKRD11 associated with classical KBG syndrome

المؤلفون: Low, Karen J., Hills, Alison, Williams, Maggie, Duff-Farrier, Celia, McKee, Shane, Smithson, Sarah F.

المصدر: Low , K J , Hills , A , Williams , M , Duff-Farrier , C , McKee , S & Smithson , S F 2017 , ' A splice-site variant in ANKRD11 associated with classical KBG syndrome ' , American Journal of Medical Genetics Part A , vol. 173 , no. 10 , pp. 2844-2846 . https://doi.org/10.1002/ajmg.a.38397Test

الإتاحة: https://doi.org/10.1002/ajmg.a.38397Test
https://hdl.handle.net/1983/ca5183da-85f5-4f18-89ae-415ff4047645Test
https://research-information.bris.ac.uk/en/publications/ca5183da-85f5-4f18-89ae-415ff4047645Test
http://www.scopus.com/inward/record.url?scp=85029575720&partnerID=8YFLogxKTest

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