المؤلفون: Harkness, J. Robert, Thomas, Huw B., Urquhart, Jill E., Jamieson, Peter, O'Keefe, Raymond T., Kingston, Helen M., Deshpande, Charulata, Newman, William G.

المصدر: Harkness , J R , Thomas , H B , Urquhart , J E , Jamieson , P , O'Keefe , R T , Kingston , H M , Deshpande , C & Newman , W G 2024 , ' Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype ' , European journal of medical genetics , vol. 67 , 104907 . https://doi.org/10.1016/j.ejmg.2023.104907Test

مصطلحات موضوعية: ATP7A, Deep intronic variant, Genome, Menkes disease, Non-coding, Occipital horn syndrome, Rare disease, Splicing

العلاقة: https://research.manchester.ac.uk/en/publications/ccc32a31-ab7b-48e8-9e8a-c35502b49e0bTest

الإتاحة: https://doi.org/10.1016/j.ejmg.2023.104907Test
https://research.manchester.ac.uk/en/publications/ccc32a31-ab7b-48e8-9e8a-c35502b49e0bTest
http://www.scopus.com/inward/record.url?scp=85181260168&partnerID=8YFLogxKTest
https://www.mendeley.com/catalogue/d00564bd-ebb5-37e1-8e39-4a848c83160cTest/

المؤلفون: Dueñas Rey, Alfredo, del Pozo Valero, Marta, Bouckaert, Manon, Wood, Katherine A., Van Den Broeck, Filip, Varela, Malena Daich, Thomas, Huw B., Van Heetvelde, Mattias, De Bruyne, Marieke, Van de Sompele, Stijn, Bauwens, Miriam, Lenaerts, Hanne, Mahieu, Quinten, Josifova, Dragana, Rivolta, Carlo, O'Keefe, Raymond T., Ellingford, Jamie, Webster, Andrew R., Arno, Gavin, Ayuso, Carmen, De Zaeytijd, Julie, Leroy, Bart, De Baere, Elfride, Coppieters, Frauke, Res Consortium, Genomics England

المصدر: GENOME MEDICINE ; ISSN: 1756-994X

مصطلحات موضوعية: Medicine and Health Sciences, Inherited retinal disease (IRD), Functional studies, Variant interpretation, In silico prioritization, Whole exome sequencing (WES), Whole genome sequencing (WGS), Non-coding variation, Upstream open reading frame (uORF), 5'untranslated region (5'UTR)

وصف الملف: application/pdf

العلاقة: info:eu-repo/grantAgreement/EC/H2020/759432; https://biblio.ugent.be/publication/01HQ8ET64RWXPQ0S3K3SWFZ2YBTest; http://hdl.handle.net/1854/LU-01HQ8ET64RWXPQ0S3K3SWFZ2YBTest; http://doi.org/10.1186/s13073-023-01277-1Test; https://biblio.ugent.be/publication/01HQ8ET64RWXPQ0S3K3SWFZ2YB/file/01HQ8ETSYHQB9K3CMCEEZ6TAKWTest

الإتاحة: https://doi.org/10.1186/s13073-023-01277-1Test
https://biblio.ugent.be/publication/01HQ8ET64RWXPQ0S3K3SWFZ2YBTest
http://hdl.handle.net/1854/LU-01HQ8ET64RWXPQ0S3K3SWFZ2YBTest
https://biblio.ugent.be/publication/01HQ8ET64RWXPQ0S3K3SWFZ2YB/file/01HQ8ETSYHQB9K3CMCEEZ6TAKWTest

المؤلفون: Smith, Thomas B, Rea, Alessandro, Thomas, Huw B, Thompson, Kyle, Oláhová, Monika, Maroofian, Reza, Zamani, Mina, He, Langping, Sadeghian, Saeid, Galehdari, Hamid, Lotan, Nava Shaul, Gilboa, Tal, Herman, Kristin C, McCorvie, Thomas J, Yue, Wyatt W, Houlden, Henry, Taylor, Robert W, Newman, William G, O'Keefe, Raymond T

المصدر: Smith , T B , Rea , A , Thomas , H B , Thompson , K , Oláhová , M , Maroofian , R , Zamani , M , He , L , Sadeghian , S , Galehdari , H , Lotan , N S , Gilboa , T , Herman , K C , McCorvie , T J , Yue , W W , Houlden , H , Taylor , R W , Newman , W G & O'Keefe , R T 2023 , ' Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative ....

مصطلحات موضوعية: Female, Genotype, Hearing Loss, Sensorineural/genetics, Homozygote, Humans, Mitochondrial Diseases/genetics, RNA, Transfer, Ribonuclease P/genetics

العلاقة: https://research.manchester.ac.uk/en/publications/bb0e8989-dd18-45f8-b0a5-12a032c9c4ffTest

الإتاحة: https://doi.org/10.1038/s41431-023-01437-2Test
https://research.manchester.ac.uk/en/publications/bb0e8989-dd18-45f8-b0a5-12a032c9c4ffTest
http://www.scopus.com/inward/record.url?scp=85167361207&partnerID=8YFLogxKTest
https://www.mendeley.com/catalogue/c604c402-e3cc-3cae-b4f5-41862759497cTest/

المؤلفون: Rowlands, Charlie, Thomas, Huw B, Lord, Jenny, Wai, Htoo, Arno, Gavin, Beaman, Glenda, Sergouniotis, Panagiotis I., Gomes-Silva, Beatriz, Campbell, Christopher, Gossan, Nicole, Hardcastle, Claire, Webb, Kevin, O'Callaghan, Christopher, Hirst, Robert A., Ramsden, Simon, Jones, Elizabeth, Clayton-Smith, Jill, Webster, Andrew R., Douglas, Andrew, O'Keefe, Raymond T, Newman, William G., Baralle, Diana, Black, Graema CM, Ellingford, Jamie M.

وصف الملف: text

العلاقة: https://eprints.soton.ac.uk/453391/1/Figure_2.v2.pdfTest; https://eprints.soton.ac.uk/453391/2/Figure_1.pdfTest; https://eprints.soton.ac.uk/453391/3/Figure_3.pdfTest; Douglas, Andrew, O'Keefe, Raymond T, Newman, William G., Baralle, Diana, Black, Graema CM and Ellingford, Jamie M. , Genomics England Research Consortium (2021) Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders. Scientific Reports, 11 (1), [20607]. (doi:10.1038/s41598-021-99747-2 ).

الإتاحة: https://doi.org/10.1038/s41598-021-99747-2Test
https://eprints.soton.ac.uk/453391Test/
https://eprints.soton.ac.uk/453391/1/Figure_2.v2.pdfTest
https://eprints.soton.ac.uk/453391/2/Figure_1.pdfTest
https://eprints.soton.ac.uk/453391/3/Figure_3.pdfTest

المؤلفون: 100,000 Genomes Project Pilot Investigators, Smedley, Damian, Smith, Katherine R, Martin, Antonio, Thomas, Ellen A, McDonagh, Ellen M, Cipriani, Valentina, Ellingford, Jamie M, Arno, Gavin, Tucci, Arianna, Vandrovcova, Jana, Chan, Georgia, Williams, Hywel J, Ratnaike, Thiloka, Wei, Wei, Stirrups, Kathleen, Ibanez, Kristina, Moutsianas, Loukas, Wielscher, Matthias, Need, Anna, Barnes, Michael R, Vestito, Letizia, Buchanan, James, Wordsworth, Sarah, Ashford, Sofie, Rehmström, Karola, Li, Emily, Fuller, Gavin, Twiss, Philip, Spasic-Boskovic, Olivera, Halsall, Sally, Floto, R Andres, Poole, Kenneth, Wagner, Annette, Mehta, Sarju G, Gurnell, Mark, Burrows, Nigel, James, Roger, Penkett, Christopher, Dewhurst, Eleanor, Gräf, Stefan, Mapeta, Rutendo, Kasanicki, Mary, Haworth, Andrea, Savage, Helen, Babcock, Melanie, Reese, Martin G, Bale, Mark, Baple, Emma, Boustred, Christopher, Brittain, Helen, de Burca, Anna, Bleda, Marta, Devereau, Andrew, Halai, Dina, Haraldsdottir, Eik, Hyder, Zerin, Kasperaviciute, Dalia, Patch, Christine, Polychronopoulos, Dimitris, Matchan, Angela, Sultana, Razvan, Ryten, Mina, Tavares, Ana LT, Tregidgo, Carolyn, Turnbull, Clare, Welland, Matthew, Wood, Suzanne, Snow, Catherine, Williams, Eleanor, Leigh, Sarah, Foulger, Rebecca E, Daugherty, Louise C, Niblock, Olivia, Leong, Ivone US, Wright, Caroline F, Davies, Jim, Crichton, Charles, Welch, James, Woods, Kerrie, Abulhoul, Lara, Aurora, Paul, Bockenhauer, Detlef, Broomfield, Alexander, Cleary, Maureen A, Lam, Tanya, Dattani, Mehul, Footitt, Emma, Ganesan, Vijeya, Grunewald, Stephanie, Compeyrot-Lacassagne, Sandrine, Muntoni, Francesco, Pilkington, Clarissa, Quinlivan, Rosaline, Thapar, Nikhil, Wallis, Colin, Wedderburn, Lucy R, Worth, Austen, Bueser, Teofila, Compton, Cecilia, Deshpande, Charu, Fassihi, Hiva, Haque, Eshika, Izatt, Louise, Josifova, Dragana, Mohammed, Shehla, Robert, Leema, Rose, Sarah, Ruddy, Deborah, Sarkany, Robert, Say, Genevieve, Shaw, Adam C, Wolejko, Agata, Habib, Bishoy, Burns, Gavin, Hunter, Sarah, Grocock, Russell J, Humphray, Sean J, Robinson, Peter N, Haendel, Melissa, Simpson, Michael A, Banka, Siddharth, Clayton-Smith, Jill, Douzgou, Sofia, Hall, Georgina, Thomas, Huw B, O'Keefe, Raymond T, Michaelides, Michel, Moore, Anthony T, Malka, Sam, Pontikos, Nikolas, Browning, Andrew C, Straub, Volker, Gorman, Gráinne S, Horvath, Rita, Quinton, Richard, Schaefer, Andrew M, Yu-Wai-Man, Patrick, Turnbull, Doug M, McFarland, Robert, Taylor, Robert W, O'Connor, Emer, Yip, Janice, Newland, Katrina, Morris, Huw R, Polke, James, Wood, Nicholas W, Campbell, Carolyn, Camps, Carme, Gibson, Kate, Koelling, Nils, Lester, Tracy, Németh, Andrea H, Palles, Claire, Patel, Smita, Roy, Noemi BA, Sen, Arjune, Taylor, John, Cacheiro, Pilar, Jacobsen, Julius O, Seaby, Eleanor G, Davison, Val, Chitty, Lyn, Douglas, Angela, Naresh, Kikkeri, McMullan, Dom, Ellard, Sian, Temple, I Karen, Mumford, Andrew D, Wilson, Gill, Beales, Phil, Bitner-Glindzicz, Maria, Black, Graeme, Bradley, John R, Brennan, Paul, Burn, John, Chinnery, Patrick F, Elliott, Perry, Flinter, Frances, Houlden, Henry, Irving, Melita, Newman, William, Rahman, Shamima, Sayer, John A, Taylor, Jenny C, Webster, Andrew R, Wilkie, Andrew OM, Ouwehand, Willem H, Raymond, F Lucy, Chisholm, John, Hill, Sue, Bentley, David, Scott, Richard H, Fowler, Tom, Rendon, Augusto, Caulfield, Mark

مصطلحات موضوعية: Adolescent, Adult, Child, Preschool, Family Characteristics, Female, Genetic Variation, Genome, Human, Humans, Male, Middle Aged, Pilot Projects, Polymerase Chain Reaction, Rare Diseases, Sensitivity and Specificity, State Medicine, United Kingdom, Whole Genome Sequencing, Young Adult

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/367485Test; https://doi.org/10.17863/CAM.108059Test

الإتاحة: https://doi.org/10.17863/CAM.108059Test
https://www.repository.cam.ac.uk/handle/1810/367485Test

المؤلفون: Eales, James M., Jiang, Xiao, Xu, Xiaoguang, Saluja, Sushant, Akbarov, Artur, Cano-Gamez, Eddie, McNulty, Michelle T., Finan, Christopher, Guo, Hui, Wystrychowski, Wojciech, Szulinska, Monika, Thomas, Huw B., Pramanik, Sanjeev, Chopade, Sandesh, Prestes, Priscilla R., Wise, Ingrid, Evangelou, Evangelos, Salehi, Mahan, Shakanti, Yusif, Ekholm, Mikael, Denniff, Matthew, Nazgiewicz, Alicja, Eichinger, Felix, Godfrey, Bradley, Antczak, Andrzej, Glyda, Maciej, Król, Robert, Eyre, Stephen, Brown, Jason, Berzuini, Carlo, Bowes, John, Caulfield, Mark, Zukowska-Szczechowska, Ewa, Zywiec, Joanna, Bogdanski, Pawel, Kretzler, Matthias, Woolf, Adrian S., Talavera, David, Keavney, Bernard, Maffia, Pasquale, Guzik, Tomasz J., O’Keefe, Raymond T., Trynka, Gosia, Samani, Nilesh J., Hingorani, Aroon, Sampson, Matthew G., Morris, Andrew P., Charchar, Fadi J., Tomaszewski, Maciej

وصف الملف: application/pdf

العلاقة: https://doi.org/10.1038/s41588-021-00835-wTest; https://researchonline.jcu.edu.au/70420Test/; https://researchonline.jcu.edu.au/70420/1/JCU_70420_Accepted.pdfTest; Eales, James M., Jiang, Xiao, Xu, Xiaoguang, Saluja, Sushant, Akbarov, Artur, Cano-Gamez, Eddie, McNulty, Michelle T., Finan, Christopher, Guo, Hui, Wystrychowski, Wojciech, Szulinska, Monika, Thomas, Huw B., Pramanik, Sanjeev, Chopade, Sandesh, Prestes, Priscilla R., Wise, Ingrid, Evangelou, Evangelos, Salehi, Mahan, Shakanti, Yusif, Ekholm, Mikael, Denniff, Matthew, Nazgiewicz, Alicja, Eichinger, Felix, Godfrey, Bradley, Antczak, Andrzej, Glyda, Maciej, Król, Robert, Eyre, Stephen, Brown, Jason, Berzuini, Carlo, Bowes, John, Caulfield, Mark, Zukowska-Szczechowska, Ewa, Zywiec, Joanna, Bogdanski, Pawel, Kretzler, Matthias, Woolf, Adrian S., Talavera, David, Keavney, Bernard, Maffia, Pasquale, Guzik, Tomasz J., O’Keefe, Raymond T., Trynka, Gosia, Samani, Nilesh J., Hingorani, Aroon, Sampson, Matthew G., Morris, Andrew P., Charchar, Fadi J., and Tomaszewski, Maciej (2021) Uncovering genetic mechanisms of hypertension through multi-omic analysis of the kidney. Nature Genetics, 53 (5). pp. 630-637.

الإتاحة: https://doi.org/10.1038/s41588-021-00835-wTest
https://researchonline.jcu.edu.au/70420/1/JCU_70420_Accepted.pdfTest

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

المساهمون: Biotechnology and Biological Sciences Research Council, Medical Research Council Canada

المصدر: Clinical Genetics ; volume 101, issue 2, page 255-259 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/cge.14082Test

المؤلفون: Wood, Katherine A, Thomas, Huw B, Woods, Steven, O'Flaherty, Julieta, Douzgou, Sofia, Kimber, Susan J, Newman, William G, O'Keefe, Raymond T

المصدر: Wood , K A , Thomas , H B , Woods , S , O'Flaherty , J , Douzgou , S , Kimber , S J , Newman , W G & O'Keefe , R T 2020 , ' Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells ' , PLoS ONE , vol. 15 , no. 7 , pp. e0233582 . https://doi.org/10.1371/journal.pone.0233582Test

الإتاحة: https://doi.org/10.1371/journal.pone.0233582Test
https://research.manchester.ac.uk/en/publications/171c2df4-9a2c-4aed-95d3-80408fb06a8bTest

المؤلفون: Harkness, J. Robert, Beaman, Glenda M., Teik, Keng W., Sidhu, Sangeet, Sayer, John A., Cordell, Heather J., Thomas, Huw B., Wood, Katherine, Stuart, Helen M., Woolf, Adrian S., Newman, William G.

المساهمون: Medical Research Council

المصدر: Kidney International Reports ; volume 5, issue 10, page 1823-1827 ; ISSN 2468-0249

مصطلحات موضوعية: Nephrology

الإتاحة: https://doi.org/10.1016/j.ekir.2020.07.001Test
https://api.elsevier.com/content/article/PII:S2468024920313644?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2468024920313644?httpAccept=text/plainTest

المؤلفون: Beaman, Glenda M., Galatà, Gabriella, Teik, Keng W., Urquhart, Jill E., Aishah, Ali, O'Sullivan, James, Bhaskar, Sanjeev S., Wood, Katherine A., Thomas, Huw B., O'Keefe, Raymond T., Woolf, Adrian S., Stuart, Helen M., Newman, William G.

المساهمون: Academy of Medical Sciences, Medical Research Council Canada

المصدر: Clinical Genetics ; volume 96, issue 6, page 515-520 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/cge.13631Test