المؤلفون: Prendergast SC; Research Department of Pathology, University College London Cancer Institute, London, UK., Strobl AC; Research Department of Pathology, University College London Cancer Institute, London, UK.; Department of Histopathology, Royal National Orthopaedic Hospital NHS Trust, Stanmore, UK., Cross W; Research Department of Pathology, University College London Cancer Institute, London, UK., Pillay N; Research Department of Pathology, University College London Cancer Institute, London, UK.; Department of Histopathology, Royal National Orthopaedic Hospital NHS Trust, Stanmore, UK., Strauss SJ; Research Department of Pathology, University College London Cancer Institute, London, UK.; Department of Oncology, University College London Hospital NHS Foundation Trust, London, UK., Ye H; Department of Histopathology, Royal National Orthopaedic Hospital NHS Trust, Stanmore, UK., Lindsay D; Department of Histopathology, Royal National Orthopaedic Hospital NHS Trust, Stanmore, UK., Tirabosco R; Department of Histopathology, Royal National Orthopaedic Hospital NHS Trust, Stanmore, UK., Chalker J; SHIMDS Acquired Genomics, Great Ormond Street Hospital for Children NHS Trust, London, UK., Mahamdallie SS; Rare and Inherited Disease Laboratory, Great Ormond Street Hospital for Children NHS Trust, London, UK., Sosinsky A; Genomics England, London, UK., Flanagan AM; Research Department of Pathology, University College London Cancer Institute, London, UK.; Department of Histopathology, Royal National Orthopaedic Hospital NHS Trust, Stanmore, UK., Amary F; Research Department of Pathology, University College London Cancer Institute, London, UK.; Department of Histopathology, Royal National Orthopaedic Hospital NHS Trust, Stanmore, UK.

مؤلفون مشاركون: RNOH Pathology Laboratory and Biobank Team; Department of Histopathology, Royal National Orthopaedic Hospital NHS Trust, Stanmore, UK., Genomics England Research Consortium; Rare and Inherited Disease Laboratory, Great Ormond Street Hospital for Children NHS Trust, London, UK.

المصدر: The journal of pathology. Clinical research [J Pathol Clin Res] 2020 Oct; Vol. 6 (4), pp. 297-307. Date of Electronic Publication: 2020 Jun 23.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley Blackwell Country of Publication: England NLM ID: 101658534 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2056-4538 (Electronic) Linking ISSN: 20564538 NLM ISO Abbreviation: J Pathol Clin Res Subsets: MEDLINE

مواضيع طبية MeSH: Mutation* , Whole Genome Sequencing*, Biomarkers, Tumor/*genetics , Sarcoma/*genetics, Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; Child, Preschool ; DNA Mutational Analysis ; Databases, Genetic ; Female ; Genetic Predisposition to Disease ; Humans ; Infant ; Male ; Middle Aged ; Phenotype ; Polymerase Chain Reaction ; Precision Medicine ; Predictive Value of Tests ; Prognosis ; Research Design ; Sarcoma/mortality ; Sarcoma/pathology ; Sarcoma/therapy ; Young Adult

المؤلفون: Alsters SI; Section of Investigative Medicine, Division of Diabetes, Endocrinology, and Metabolism, Department of Medicine, Imperial College London, London, United Kingdom., Goldstone AP; Imperial Centre for Endocrinology, Imperial College Healthcare NHS Trust, Hammersmith Hospital, London, United Kingdom; Centre for Neuropsychopharmacology and Computational, Cognitive and Clinical Neuroimaging Laboratory, Division of Brain Sciences, Department of Medicine, Imperial College London, Hammersmith Hospital, London, United Kingdom; Metabolic and Molecular Imaging Group, MRC Clinical Sciences Centre, Imperial College London, Hammersmith Hospital, London, United Kingdom., Buxton JL; Section of Investigative Medicine, Division of Diabetes, Endocrinology, and Metabolism, Department of Medicine, Imperial College London, London, United Kingdom; Centre for Cardiovascular Genetics, UCL Institute of Cardiovascular Science, London, United Kingdom., Zekavati A; NIHR Imperial BRC Genomics Facility, Faculty of Medicine, Imperial College London, London, United Kingdom., Sosinsky A; NIHR Imperial BRC Genomics Facility, Faculty of Medicine, Imperial College London, London, United Kingdom., Yiorkas AM; Section of Investigative Medicine, Division of Diabetes, Endocrinology, and Metabolism, Department of Medicine, Imperial College London, London, United Kingdom., Holder S; NW Thames Regional Genetics Service, Kennedy Galton Centre, North West London Hospitals NHS Trust, Northwick Park Hospital, Harrow, United Kingdom., Klaber RE; Department of Paediatrics, Imperial College Healthcare NHS Trust, St Mary's Hospital, London, United Kingdom., Bridges N; Department of Paediatric Endocrinology, Chelsea and Westminster Hospital, London, United Kingdom., van Haelst MM; Department of Medical Genetics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands., le Roux CW; Section of Investigative Medicine, Division of Diabetes, Endocrinology, and Metabolism, Department of Medicine, Imperial College London, London, United Kingdom; Diabetes Complications Research Centre, Conway Institute, School of Medicine and Medical Science, University College Dublin, Dublin, Ireland., Walley AJ; Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, United Kingdom., Walters RG; Clinical Trial Service Unit and Epidemiological Studies Unit (CTSU), Nuffield Department of Population Health, University of Oxford, Oxford, United Kingdom., Mueller M; NIHR Imperial BRC Genomics Facility, Faculty of Medicine, Imperial College London, London, United Kingdom., Blakemore AI; Section of Investigative Medicine, Division of Diabetes, Endocrinology, and Metabolism, Department of Medicine, Imperial College London, London, United Kingdom.

المصدر: PloS one [PLoS One] 2015 Jun 29; Vol. 10 (6), pp. e0131417. Date of Electronic Publication: 2015 Jun 29 (Print Publication: 2015).

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

مواضيع طبية MeSH: Carboxypeptidase H/*genetics , Diabetes Mellitus, Type 2/*complications , Intellectual Disability/*complications , Klinefelter Syndrome/*complications , Mutation/*genetics , Obesity, Morbid/*complications , Obesity, Morbid/*genetics, Carboxypeptidase H/metabolism ; DNA Mutational Analysis ; Diabetes Mellitus, Type 2/enzymology ; Diabetes Mellitus, Type 2/genetics ; Exome/genetics ; Female ; Gene Expression Regulation, Enzymologic ; Homozygote ; Humans ; Intellectual Disability/genetics ; Klinefelter Syndrome/enzymology ; Klinefelter Syndrome/genetics ; Male ; Obesity, Morbid/enzymology ; Pedigree ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Young Adult

المؤلفون: Dixon, Peter H., Levine, Adam P., Cebola, Inês, Chan, Melanie M. Y., Amin, Aliya S., Aich, Anshul, Mozere, Monika, Maude, Hannah, Mitchell, Alice L., Zhang, Jun, Adlard, Julian, Ahmed, Munaza, Aitman, Tim, Alachkar, Hana, Allsup, David, Almeida-King, Jeff, Ancliff, Philip, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Ashford, Sofie, Astle, William, Attwood, Anthony, Babbs, Chris, Bakchoul, Tamam, Bariana, Tadbir, Barwell, Julian, Bennett, David, Bentley, David, Bierzynska, Agnieszka, Biss, Tina, Bleda, Marta, Bogaard, Harm, Bourne, Christian, Boyce, Sara, Bradley, John, Breen, Gerome, Brennan, Paul, Brewer, Carole, Brown, Matthew, Browning, Michael, Buchan, Rachel, Buckland, Matthew, Bueser, Teofila, Burns, Siobhan, Burren, Oliver, Calleja, Paul, Carr-White, Gerald, Carss, Keren, Casey, Ruth, Caulfield, Mark, Chambers, John, Chambers, Jennifer, Cheng, Floria, Chinnery, Patrick F., Christian, Martin, Church, Colin, Brod, Naomi Clements, Coghlan, Gerry, Colby, Elizabeth, Cole, Trevor, Collins, Janine, Collins, Peter, Colombo, Camilla, Condliffe, Robin, Cook, Stuart, Cook, Terry, Cooper, Nichola, Corris, Paul, Crisp-Hihn, Abigail, Curry, Nicola, Danesino, Cesare, Daniels, Matthew, Daugherty, Louise, Davis, John, Deevi, Sri V. V., Dent, Timothy, Dewhurst, Eleanor, Dixon, Peter, Downes, Kate, Drazyk, Anna, Drewe, Elizabeth, Dutt, Tina, Edgar, David, Edwards, Karen, Egner, William, Erber, Wendy, Erwood, Marie, Estiu, Maria C., Evans, Gillian, Evans, Dafydd Gareth, Everington, Tamara, Eyries, Mélanie, Favier, Remi, Fletcher, Debra, Fox, James, Frary, Amy, French, Courtney, Freson, Kathleen, Frontini, Mattia, Gale, Daniel, Gall, Henning, Geoghegan, Claire, Gerighty, Terry, Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Gibbs, Simon, Gilmour, Kimberley, Girerd, Barbara, Goddard, Sarah, Gomez, Keith, Gordins, Pavels, Gosal, David, Gräf, Stefan, Grassi, Luigi, Greene, Daniel, Greenhalgh, Lynn, Greinacher, Andreas, Gresele, Paolo, Griffiths, Philip, Grigoriadou, Sofia, Grocock, Russell, Grozeva, Detelina, Hackett, Scott, Hadinnapola, Charaka, Hague, William, Haimel, Matthias, Hall, Matthew, Hanson, Helen, Harkness, Kirsty, Harper, Andrew, Harris, Claire, Hart, Daniel, Hassan, Ahamad, Hayman, Grant, Henderson, Alex, Hoffmann, Jonathan, Horvath, Rita, Houweling, Arjan, Howard, Luke, Hu, Fengyuan, Hudson, Gavin, Hughes, Joseph, Huissoon, Aarnoud, Humbert, Marc, Humphray, Sean, Hunter, Sarah, Hurles, Matthew, Izatt, Louise, James, Roger, Johnson, Sally, Jolles, Stephen, Jolley, Jennifer, Jurkute, Neringa, Kasanicki, Mary, Kazkaz, Hanadi, Kazmi, Rashid, Kelleher, Peter, Kiely, David, Kingston, Nathalie, Klima, Robert, Kostadima, Myrto, Kovacs, Gabor, Koziell, Ania, Kreuzhuber, Roman, Kuijpers, Taco, Kumar, Ajith, Kumararatne, Dinakantha, Kuria, Manju, Laffa, Michael, Lalloo, Fiona, Lamber, Michele, Alle, Hana Lango, Lawrie, Allan, Layton, Mark, Lentaigne, Claire, Levine, Adam, Linger, Rachel, Longhurst, Hilary, Louka, Eleni, Ross, Robert MacKenzie, Madan, Bella, Maher, Eamonn, Maimaris, Jesmeen, Mangles, Sarah, Mapeta, Rutendo, Marchbank, Kevin, Marks, Stephen, Markus, Hugh S., Marshall, Andrew, Martin, Jennifer, Mathias, Mary, Matthews, Emma, Maxwell, Heather, McAlinden, Paul, McCarthy, Mark, Meacham, Stuart, Mead, Adam, Megy, Karyn, Mehta, Sarju, Michaelides, Michel, Millar, Carolyn, Moledina, Shahin, Montani, David, Moor, Tony, Morrell, Nicholas, Muir, Keith, Mumford, Andrew, Newnham, Michael, O'Sullivan, Jennifer, Obaji, Samya, Okoli, Steven, Olschewski, Andrea, Olschewski, Horst, Ong, Kai Ren, Ormondroy, Elizabeth, Ouwehan, Willem, Papadi, Sofia, Park, Soo-Mi, Parry, David, Paterson, Joan, Peacock, Andrew, Peden, John, Peerlinck, Kathelijne, Penkett, Christopher, Pepke-Zaba, Joanna, Petersen, Romina, Pyle, Angela, Rankin, Stuart, Rao, Anupama, Raymond, F. Lucy, Rayner-Matthew, Paula, Rees, Christine, Rendon, Augusto, Renton, Tara, Rice, Andrew, Richardson, Sylvia, Richter, Alex, Roberts, Irene, Roughley, Catherine, Roy, Noemi, Sadeghi-Alavijeh, Omid, Saleem, Moin, Samani, Nilesh, Sanchis-Juan, Alba, Sargur, Ravishankar, Satchell, Simon, Savic, Sinisa, Scelsi, Laura, Schulman, Sol, Scully, Marie, Searle, Claire, Seeger, Werner, Sewell, Carrock, Seyres, Denis, Shapiro, Susie, Sharmardina, Olga, Shtoyerman, Rakefet, Sibson, Keith, Side, Lucy, Simeoni, Ilenia, Simpson, Michael, Sivapalaratnam, Suthesh, Skytte, Anne-Bine, Smith, Katherine, Smith, Kenneth G. C., Snape, Katie, Soubrier, Florent, Staines, Simon, Staples, Emily, Stark, Hannah, Stephens, Jonathan, Stirrups, Kathleen, Stock, Sophie, Suntharalingam, Jay, Swietlik, Emilia, Tait, R. Campbell, Talks, Kate, Tan, Rhea, Thaventhiran, James, Themistocleous, Andreas, Thomas, Moira, Thomson, Kate, Thrasher, Adrian, Thys, Chantal, Tischkowitz, Marc, Titterton, Catherine, Toh, Cheng-Hock, Toshner, Mark, Traylor, Matthew, Treacy, Carmen, Trembath, Richard, Tuna, Salih, Turek, Wojciech, Turro, Ernest, Vale, Tom, Van Geet, Chris, Van Zuydam, Natalie, Vazquez-Lopez, Marta, von Ziegenweidt, Julie, Noordegraaf, Anton Vonk, Waisfisz, Quintin, Walker, Suellen, Ware, James, Watkins, Hugh, Watt, Christopher, Webster, Andrew, Wei, Wei, Welch, Steven, Wessels, Julie, Westbury, Sarah, Westwood, John-Paul, Wharton, John, Whitehorn, Deborah, Whitworth, James, Wilkins, Martin R., Wong, Edwin, Wood, Nicholas, Wood, Yvette, Woods, Geoff, Woodward, Emma, Wort, Stephen, Worth, Austen, Yates, Katherine, Yong, Patrick, Young, Tim, Yu, Ping, Yu-Wai-Man, Patrick, Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M. A., Caulfield, M. J., Chan, G. C., Fowler, T., Giess, A., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O'Donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smith, S. C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A. L., Thomas, E. R. A., Thompson, S. R., Tucci, A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Chambers, Jenny, Syngelaki, Argyro, Donnelly, Jennifer, Cooley, Sharon, Geary, Michael, Nicolaides, Kypros, Thorsell, Malin, Hague, William M., Estiu, Maria Cecilia, Marschall, Hanns-Ulrich, Gale, Daniel P., Williamson, Catherine

المساهمون: Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, Human genetics, ACS - Atherosclerosis & ischemic syndromes, Pediatrics, Foundation for the National Institutes of Health (FNIH), The Academy of Medical Sciences, British Heart Foundation, Imperial College Healthcare NHS Trust- BRC Funding, Paediatric Infectious Diseases / Rheumatology / Immunology, ARD - Amsterdam Reproduction and Development

المصدر: Nature communications
Nature Communications, 13(1):4840. Nature Publishing Group UK
Dixon, P H, Levine, A P, Cebola, I, Chan, M M Y, Amin, A S, Aich, A, Mozere, M, Maude, H, Mitchell, A L, Zhang, J, NIHR BioResource, Genomics England Research Consortium Collaborators, Chambers, J, Syngelaki, A, Donnelly, J, Cooley, S, Geary, M, Nicolaides, K H, Thorsel, M, Hague, W M, Estiu, M C, Marschall, H-U, Gale, D P & Williamson, C 2022, ' GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements ', Nature Communications, vol. 13, no. 1, 4840 . https://doi.org/10.1038/s41467-022-29931-z
Nature communications, 13(1):4840. Nature Publishing Group
NIHR BioResource & Genomics England Research Consortium Collaborators 2022, ' GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements ', Nature Communications, vol. 13, no. 1, 4840 . https://doi.org/10.1038/s41467-022-29931-z

مصطلحات موضوعية: VARIANT, LOCI, INTEGRATIVE ANALYSIS, General Physics and Astronomy, Cholestasis, Intrahepatic, TRIGLYCERIDE LEVELS, DISEASE, General Biochemistry, Genetics and Molecular Biology, Bile Acids and Salts, Pregnancy, Humans, MUTATION, Science & Technology, Multidisciplinary, Genomics England Research Consortium Collaborators, Infant, Newborn, NIHR BioResource, General Chemistry, GLUCOCORTICOID-RECEPTOR, Multidisciplinary Sciences, ALKALINE SPHINGOMYELINASE, Pregnancy Complications, INSIGHTS, Science & Technology - Other Topics, Premature Birth, Female, FASTING GLUCOSE, Genome-Wide Association Study

وصف الملف: application/pdf; Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32004aedd0a2cc7c0d8d5f85397d8762

المؤلفون: Anjali Vig, James A. Poulter, Daniele Ottaviani, Erika Tavares, Katerina Toropova, Anna Maria Tracewska, Antonio Mollica, Jasmine Kang, Oshini Kehelwathugoda, Tara Paton, Jason T. Maynes, Gabrielle Wheway, Gavin Arno, J.C. Ambrose, P. Arumugam, E.L. Baple, M. Bleda, F. Boardman-Pretty, J.M. Boissiere, C.R. Boustred, H. Brittain, M.J. Caulfield, G.C. Chan, C.E.H. Craig, L.C. Daugherty, A. de Burca, A. Devereau, G. Elgar, R.E. Foulger, T. Fowler, P. Furió-Tarí, J.M. Hackett, D. Halai, A. Hamblin, S. Henderson, J.E. Holman, T.J.P. Hubbard, K. Ibáñez, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, L. Lahnstein, K. Lawson, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, J. Mason, E.M. McDonagh, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, C.A. Odhams, C. Patch, D. Perez-Gil, D. Polychronopoulos, J. Pullinger, T. Rahim, A. Rendon, P. Riesgo-Ferreiro, T. Rogers, M. Ryten, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, D. Smedley, K.R. Smith, A. Sosinsky, W. Spooner, H.E. Stevens, A. Stuckey, R. Sultana, E.R.A. Thomas, S.R. Thompson, C. Tregidgo, A. Tucci, E. Walsh, S.A. Watters, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, Kamron N. Khan, Martin McKibbin, Carmel Toomes, Manir Ali, Matteo Di Scipio, Shuning Li, Jamie Ellingford, Graeme Black, Andrew Webster, Małgorzata Rydzanicz, Piotr Stawiński, Rafał Płoski, Ajoy Vincent, Michael E. Cheetham, Chris F. Inglehearn, Anthony Roberts, Elise Heon

المصدر: Genetics in Medicine

مصطلحات موضوعية: 0301 basic medicine, Proband, Retinal degeneration, intraflagellar transport (IFT), Cytoplasmic Dyneins, Ellis-Van Creveld Syndrome, 030105 genetics & heredity, Biology, Article, Retina, 03 medical and health sciences, Exon, chemistry.chemical_compound, primary cilia, medicine, Organoid, Missense mutation, Humans, Induced pluripotent stem cell, Genetics (clinical), Exome sequencing, Retinal Degeneration, Retinal, Exons, DYNC2H1, medicine.disease, Molecular biology, retinitis pigmentosa (RP), Pedigree, inherited retinal disease (IRD), 030104 developmental biology, chemistry, Mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c0d1392a5b005c16762f6fc0adb770b
http://europepmc.org/articles/PMC7708302

المؤلفون: Amelia, Shoemark, Helen, Griffin, Gabrielle, Wheway, Claire, Hogg, Jane S, Lucas, Carme, Camps, Jenny, Taylor, Mary, Carroll, Michael R, Loebinger, James D, Chalmers, Deborah, Morris-Rosendahl, Hannah M, Mitchison, Anthony, De Soyza, D, Brown, J C, Ambrose, P, Arumugam, R, Bevers, M, Bleda, F, Boardman-Pretty, C R, Boustred, H, Brittain, M J, Caulfield, G C, Chan, T, Fowler, A, Giess, A, Hamblin, S, Henderson, T J P, Hubbard, R, Jackson, L J, Jones, D, Kasperaviciute, M, Kayikci, A, Kousathanas, L, Lahnstein, S E A, Leigh, I U S, Leong, F J, Lopez, F, Maleady-Crowe, M, McEntagart, F, Minneci, L, Moutsianas, M, Mueller, N, Murugaesu, A C, Need, P, O'Donovan, C A, Odhams, C, Patch, D, Perez-Gil, M B, Pereira, J, Pullinger, T, Rahim, A, Rendon, T, Rogers, K, Savage, K, Sawant, R H, Scott, A, Siddiq, A, Sieghart, S C, Smith, A, Sosinsky, A, Stuckey, M, Tanguy, A L, Taylor Tavares, E R A, Thomas, S R, Thompson, A, Tucci, M J, Welland, E, Williams, K, Witkowska, S M, Wood

المصدر: The European respiratory journal. 60(5)

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Kartagener Syndrome, Mutation, Humans, Cilia, Ciliopathies, Bronchiectasis, Ciliary Motility Disorders

وصف الملف: text

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74d86413d894f99a8f8c718a94a0c223
https://pubmed.ncbi.nlm.nih.gov/35728977

المؤلفون: Park, Joohyun, Tucci, Arianna, Cali, Elisa, Ryten, M., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K. R., Sosinsky, A., Spooner, W., Vestito, Letizia, Stevens, H. E., Stuckey, A., Sultana, R., Thomas, E. R. A., Thompson, S. R., Tregidgo, C., Tucci, A., Walsh, E., Watters, S. A., Welland, M. J., Maroofian, Reza, Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M., Deininger, Natalie, Rautenberg, Maren, Admard, Jakob, Hahn, Gesa-Astrid, Bartels, Claudius, van Os, Nienke J H, Horvath, Rita, Cipriani, Valentina, Chinnery, Patrick F, Tiet, May Yung, Hewamadduma, Channa, Hadjivassiliou, Marios, Tofaris, George K, Consortium, Genomics England Research, Wood, Nicholas W, Hayer, Stefanie N, Bender, Friedemann, Menden, Benita, Demidov, German, Cordts, Isabell, Klein, Katrin, Nguyen, Huu Phuc, Krauss, Joachim K, Blahak, Christian, Strom, Tim M, Sturm, Marc, van de Warrenburg, Bart, Lerche, Holger, Maček, Boris, Rocca, Clarissa, Synofzik, Matthis, Ossowski, Stephan, Timmann, Dagmar, Wolf, Marc E, Smedley, Damian, Riess, Olaf, Schöls, Ludger, Houlden, Henry, Haack, Tobias B, Hengel, Holger, Senderek, Jan, Ambrose, J. C., Arumugam, P., Baple, E. L., Bleda, M., Boardman-Pretty, F., Boissiere, J. M., Boustred, C. R., Brittain, H., Caulfield, M. J., Chan, G. C., Butryn, Michaela, Craig, C. E. H., Daugherty, L. C., de Burca, A., Devereau, A., Elgar, G., Foulger, R. E., Fowler, T., Furió-Tarí, P., Hackett, J. M., Halai, D., Velic, Ana, Hamblin, A., Henderson, S., Holman, J. E., Hubbard, T. J. P., Ibáñez, K., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lam, Tanya, Lawson, K., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., Mason, J., McDonagh, E. M., Moutsianas, L., Mueller, M., Murugaesu, N., Galanaki, Evangelia, Need, A. C., Odhams, C. A., Patch, C., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T.

المصدر: Genetics in Medicine, 24, 10, pp. 2079-2090
Genetics in medicine 24(10), 2079-2090 (2022). doi:10.1016/j.gim.2022.07.006
Genetics in Medicine, 24, 2079-2090

مصطلحات موضوعية: Proteomics, Cerebellar Ataxia, Medizin, genetics [Muscle Spasticity], UCHL1, genetics [Optic Atrophy], genetics [Ubiquitin Thiolesterase], All institutes and research themes of the Radboud University Medical Center, Loss of Function Mutation, Gene burden, genetics [Spastic Paraplegia, Hereditary], Spinocerebellar Ataxias, Humans, ddc:610, genetics [Spinocerebellar Ataxias], Genetics (clinical), genetics [Cerebellar Ataxia], Spastic Paraplegia, Hereditary, Spastic ataxia, genetics [Ataxia], Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Pedigree, Optic Atrophy, Muscle Spasticity, Mutation, Ataxia, Ubiquitin Thiolesterase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b701ad5919ac8af14db5fbd7dc6d5394
https://doi.org/10.1016/j.gim.2022.07.006

المؤلفون: Schon, Katherine R, Horvath, Rita, Wei, Wei, Calabrese, Claudia, Tucci, Arianna, Ibañez, Kristina, Ratnaike, Thiloka, Pitceathly, Robert D S, Bugiardini, Enrico, Quinlivan, Rosaline, Hanna, Michael G, Clement, Emma, Ashton, Emma, Sayer, John A, Brennan, Paul, Josifova, Dragana, Izatt, Louise, Fratter, Carl, Nesbitt, Victoria, Barrett, Timothy, McMullen, Dominic J, Smith, Audrey, Deshpande, Charulata, Smithson, Sarah F, Festenstein, Richard, Canham, Natalie, Caulfield, Mark, Houlden, Henry, Rahman(, Shamima, Chinnery, Patrick F, Genomics England Research Consortium, Ambrose, John C, Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R, Brittain, Helen, Caulfield, Mark J, Chan, Georgia C, Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J P, Jackson, Rob, Jones, Louise J, Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E A, Leong, Ivonne U S, Lopez, Javier F, Maleady-Crowe, Fiona, McEntegart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C, O’Donovan, Peter, Odhams, Chris A, Patch, Christine, Buonerimo Pereira, Mariana, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H, Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C, Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R A, Thompson, Simon R, Welland, Matthew J, Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M

المساهمون: Schon, Katherine R [0000-0001-8054-8954], Houlden, Henry [0000-0002-2866-7777], Rahman(, Shamima [0000-0003-2088-730X], Chinnery, Patrick F [0000-0002-7065-6617], Apollo - University of Cambridge Repository

المصدر: The BMJ

مصطلحات موضوعية: Adult, Genetic Markers, Male, medicine.medical_specialty, Mitochondrial DNA, Mitochondrial Diseases, Adolescent, Mitochondrial disease, Bioinformatics, DNA, Mitochondrial, Genome, Young Adult, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Genetic Testing, Copy-number variation, Medical diagnosis, Child, Aged, 030304 developmental biology, Aged, 80 and over, Whole genome sequencing, 0303 health sciences, Whole Genome Sequencing, business.industry, Research, Infant, Newborn, Infant, General Medicine, Middle Aged, medicine.disease, 3. Good health, Phenotype, Child, Preschool, Mutation, Medical genetics, Microsatellite, Female, business, 030217 neurology & neurosurgery, Follow-Up Studies

وصف الملف: application/zip; application/pdf; text/xml

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::491ea35bee65d7fce40030147d39707e
https://www.repository.cam.ac.uk/handle/1810/330283

المؤلفون: Adrienne M. Flanagan, Sophie C Prendergast, Nischalan Pillay, Alona Sosinsky, Hongtao Ye, Shazia Mahamdallie, Biobank Team, Daniel Lindsay, Roberto Tirabosco, Jane Chalker, Fernanda Amary, William Cross, Anna-Christina Strobl, Sandra J. Strauss

المصدر: The Journal of Pathology: Clinical Research, Vol 6, Iss 4, Pp 297-307 (2020)
The Journal of Pathology: Clinical Research

مصطلحات موضوعية: Adult, Male, Oncology, medicine.medical_specialty, sarcoma, Adolescent, DNA Mutational Analysis, Polymerase Chain Reaction, Genome, Pathology and Forensic Medicine, Young Adult, Germline mutation, Predictive Value of Tests, Internal medicine, Databases, Genetic, Biomarkers, Tumor, lcsh:Pathology, medicine, Humans, cancer, Genetic Predisposition to Disease, genetics, Precision Medicine, Child, genome, Aged, Aged, 80 and over, Whole genome sequencing, Whole Genome Sequencing, business.industry, Clinical study design, Infant, Cancer, Original Articles, Middle Aged, Prognosis, medicine.disease, Clinical trial, Phenotype, Research Design, Child, Preschool, Mutation, Cohort, Female, Original Article, Sarcoma, business, lcsh:RB1-214

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3287d6ce0edc907cdd54cf12fac3713c
https://doi.org/10.1002/cjp2.174

المؤلفون: Ramita Dewan, Ruth Chia, Jinhui Ding, Richard A. Hickman, Thor D. Stein, Yevgeniya Abramzon, Sarah Ahmed, Marya S. Sabir, Makayla K. Portley, Arianna Tucci, Kristina Ibáñez, F.N.U. Shankaracharya, Pamela Keagle, Giacomina Rossi, Paola Caroppo, Fabrizio Tagliavini, Maria L. Waldo, Per M. Johansson, Christer F. Nilsson, James B. Rowe, Luisa Benussi, Giuliano Binetti, Roberta Ghidoni, Edwin Jabbari, Coralie Viollet, Jonathan D. Glass, Andrew B. Singleton, Vincenzo Silani, Owen A. Ross, Mina Ryten, Ali Torkamani, Toshiko Tanaka, Luigi Ferrucci, Susan M. Resnick, Stuart Pickering-Brown, Christopher B. Brady, Neil Kowal, John A. Hardy, Vivianna Van Deerlin, Jean Paul Vonsattel, Matthew B. Harms, Huw R. Morris, Raffaele Ferrari, John E. Landers, Adriano Chiò, J. Raphael Gibbs, Clifton L. Dalgard, Sonja W. Scholz, Bryan J. Traynor, Adelani Adeleye, Camille Alba, Dagmar Bacikova, Daniel N. Hupalo, Elisa McGrath Martinez, Harvey B. Pollard, Gauthaman Sukumar, Anthony R. Soltis, Meila Tuck, Xijun Zhang, Matthew D. Wilkerson, Bradley N. Smith, Nicola Ticozzi, Claudia Fallini, Athina Soragia Gkazi, Simon D. Topp, Jason Kost, Emma L. Scotter, Kevin P. Kenna, Jack W. Miller, Cinzia Tiloca, Caroline Vance, Eric W. Danielson, Claire Troakes, Claudia Colombrita, Safa Al-Sarraj, Elizabeth A. Lewis, Andrew King, Daniela Calini, Viviana Pensato, Barbara Castellotti, Jacqueline de Belleroche, Frank Baas, Anneloor L.M.A. ten Asbroek, Peter C. Sapp, Diane McKenna-Yasek, Russell L. McLaughlin, Meraida Polak, Seneshaw Asress, Jesús Esteban-Pérez, José Luis Muñoz-Blanco, Zorica Stevic, Sandra D’Alfonso, Letizia Mazzini, Giacomo P. Comi, Roberto Del Bo, Mauro Ceroni, Stella Gagliardi, Giorgia Querin, Cinzia Bertolin, Wouter van Rheenen, Frank P. Diekstra, Rosa Rademakers, Marka van Blitterswijk, Kevin B. Boylan, Giuseppe Lauria, Stefano Duga, Stefania Corti, Cristina Cereda, Lucia Corrado, Gianni Sorarù, Kelly L. Williams, Garth A. Nicholson, Ian P. Blair, Claire Leblond-Manry, Guy A. Rouleau, Orla Hardiman, Karen E. Morrison, Jan H. Veldink, Leonard H. van den Berg, Ammar Al-Chalabi, Hardev Pall, Pamela J. Shaw, Martin R. Turner, Kevin Talbot, Franco Taroni, Alberto García-Redondo, Zheyang Wu, Cinzia Gellera, Antonia Ratti, Robert H. Brown, Christopher E. Shaw, John C. Ambrose, Prabhu Arumugam, Emma L. Baple, Marta Bleda, Freya Boardman-Pretty, Jeanne M. Boissiere, Christopher R. Boustred, H. Brittain, Mark J. Caulfield, Georgia C. Chan, Clare E.H. Craig, Louise C. Daugherty, Anna de Burca, Andrew Devereau, Greg Elgar, Rebecca E. Foulger, Tom Fowler, Pedro Furió-Tarí, Joanne M. Hackett, Dina Halai, Angela Hamblin, Shirley Henderson, James E. Holman, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Dalia Kasperaviciute, Melis Kayikci, Lea Lahnstein, Kay Lawson, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, Fiona Maleady-Crowe, Joanne Mason, Ellen M. McDonagh, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Chris A. Odhams, Christine Patch, Daniel Perez-Gil, Dimitris Polychronopoulos, John Pullinger, Tahrima Rahim, Augusto Rendon, Pablo Riesgo-Ferreiro, Tim Rogers, Kevin Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, Alexander Sieghart, Damian Smedley, Katherine R. Smith, Alona Sosinsky, William Spooner, Helen E. Stevens, Alexander Stuckey, Razvan Sultana, Ellen R.A. Thomas, Simon R. Thompson, Carolyn Tregidgo, Emma Walsh, Sarah A. Watters, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood, Magdalena Zarowiecki, Sampath Arepalli, Pavan Auluck, Robert H. Baloh, Robert Bowser, Alexis Brice, James Broach, William Camu, John Cooper-Knock, Philippe Corcia, Carsten Drepper, Vivian E. Drory, Travis L. Dunckley, Faraz Faghri, Jennifer Farren, Eva Feldman, Mary Kay Floeter, Pietro Fratta, Glenn Gerhard, Summer B. Gibson, Stephen A. Goutman, Terry D. Heiman-Patterson, Dena G. Hernandez, Ben Hoover, Lilja Jansson, Freya Kamel, Janine Kirby, Neil W. Kowall, Hannu Laaksovirta, Francesco Landi, Isabelle Le Ber, Serge Lumbroso, Daniel JL. MacGowan, Nicholas J. Maragakis, Gabriele Mora, Kevin Mouzat, Liisa Myllykangas, Mike A. Nalls, Richard W. Orrell, Lyle W. Ostrow, Roger Pamphlett, Erik Pioro, Stefan M. Pulst, John M. Ravits, Alan E. Renton, Wim Robberecht, Ian Robey, Ekaterina Rogaeva, Jeffrey D. Rothstein, Michael Sendtner, Katie C. Sidle, Zachary Simmons, David J. Stone, Pentti J. Tienari, John Q. Trojanowski, Juan C. Troncoso, Miko Valori, Philip Van Damme, Ludo Van Den Bosch, Lorne Zinman, Diego Albani, Barbara Borroni, Alessandro Padovani, Amalia Bruni, Jordi Clarimon, Oriol Dols-Icardo, Ignacio Illán-Gala, Alberto Lleó, Adrian Danek, Daniela Galimberti, Elio Scarpini, Maria Serpente, Caroline Graff, Huei-Hsin Chiang, Behzad Khoshnood, Linn Öijerstedt, Christopher M. Morris, Benedetta Nacmias, Sandro Sorbi, Jorgen E. Nielsen, Lynne E. Hjermind, Valeria Novelli, Annibale A. Puca, Pau Pastor, Ignacio Alvarez, Monica Diez-Fairen, Miquel Aguilar, Robert Perneczky, Janine Diehl-Schimd, Mina Rossi, Agustin Ruiz, Mercè Boada, Isabel Hernández, Sonia Moreno-Grau, Johannes C. Schlachetzki, Dag Aarsland, Marilyn S. Albert, Johannes Attems, Matthew J. Barrett, Thomas G. Beach, Lynn M. Bekris, David A. Bennett, Lilah M. Besser, Eileen H. Bigio, Sandra E. Black, Bradley F. Boeve, Ryan C. Bohannan, Francesca Brett, Maura Brunetti, Chad A. Caraway, Jose-Alberto Palma, Andrea Calvo, Antonio Canosa, Dennis Dickson, Charles Duyckaerts, Kelley Faber, Tanis Ferman, Margaret E. Flanagan, Gianluca Floris, Tatiana M. Foroud, Juan Fortea, Ziv Gan-Or, Steve Gentleman, Bernardino Ghetti, Jesse Raphael Gibbs, Alison Goate, David Goldstein, Isabel González-Aramburu, Neill R. Graff-Radford, Angela K. Hodges, Heng-Chen Hu, Daniel Hupalo, Jon Infante, Alex Iranzo, Scott M. Kaiser, Horacio Kaufmann, Julia Keith, Ronald C. Kim, Gregory Klein, Rejko Krüger, Walter Kukull, Amanda Kuzma, Carmen Lage, Suzanne Lesage, James B. Leverenz, Giancarlo Logroscino, Grisel Lopez, Seth Love, Qinwen Mao, Maria Jose Marti, Elisa Martinez-McGrath, Mario Masellis, Eliezer Masliah, Patrick May, Ian McKeith, Marek-Marsel Mesulam, Edwin S. Monuki, Kathy L. Newell, Lucy Norcliffe-Kaufmann, Laura Palmer, Matthew Perkins, Olga Pletnikova, Laura Molina-Porcel, Regina H. Reynolds, Eloy Rodríguez-Rodríguez, Jonathan D. Rohrer, Pascual Sanchez-Juan, Clemens R. Scherzer, Geidy E. Serrano, Vikram Shakkottai, Ellen Sidransky, Nahid Tayebi, Alan J. Thomas, Bension S. Tilley, Ronald L. Walton, Randy Woltjer, Zbigniew K. Wszolek, Georgia Xiromerisiou, Chiara Zecca, Hemali Phatnani, Justin Kwan, Dhruv Sareen, James R. Broach, Ximena Arcila-Londono, Edward B. Lee, Neil A. Shneider, Ernest Fraenkel, Noah Zaitlen, James D. Berry, Andrea Malaspina, Gregory A. Cox, Leslie M. Thompson, Steve Finkbeiner, Efthimios Dardiotis, Timothy M. Miller, Siddharthan Chandran, Suvankar Pal, Eran Hornstein, Daniel J. MacGowan, Terry Heiman-Patterson, Molly G. Hammell, Nikolaos.A. Patsopoulos, Oleg Butovsky, Joshua Dubnau, Avindra Nath, Matt Harms, Eleonora Aronica, Mary Poss, Jennifer Phillips-Cremins, John Crary, Nazem Atassi, Dale J. Lange, Darius J. Adams, Leonidas Stefanis, Marc Gotkine, Suma Babu, Towfique Raj, Sabrina Paganoni, Ophir Shalem, Colin Smith, Bin Zhang, Brent Harris, Iris Broce, Vivian Drory, John Ravits, Corey McMillan, Vilas Menon, Lani Wu, Steven Altschuler, Khaled Amar, Neil Archibald, Oliver Bandmann, Erica Capps, Alistair Church, Jan Coebergh, Alyssa Costantini, Peter Critchley, Boyd CP. Ghosh, Michele T.M. Hu, Christopher Kobylecki, P. Nigel Leigh, Carl Mann, Luke A. Massey, Uma Nath, Nicola Pavese, Dominic Paviour, Jagdish Sharma, Jenny Vaughan

المساهمون: HUS Neurocenter, Neurologian yksikkö, Department of Neurosciences, Clinicum, Pentti Tienari / Principal Investigator, Parkinson's UK, Human Genetics, ARD - Amsterdam Reproduction and Development, ANS - Complex Trait Genetics, Pathology, ANS - Cellular & Molecular Mechanisms, AII - Inflammatory diseases, Universidad de Cantabria, Rowe, James [0000-0001-7216-8679], Apollo - University of Cambridge Repository

المصدر: Dewan, R, Chia, R, Ding, J, Hickman, R A, Stein, T D, Abramzon, Y, Ahmed, S, Sabir, M S, Portley, M K, Tucci, A, Ibáñez, K, Shankaracharya, F N U, Keagle, P, Rossi, G, Caroppo, P, Tagliavini, F, Waldo, M L, Johansson, P M, Nilsson, C F, Adeleye, A, Alba, C, Bacikova, D, Hupalo, D N, Martinez, E M G, Pollard, H B, Sukumar, G, Soltis, A R, Tuck, M, Zhang, X, Wilkerson, M D, Smith, B N, Ticozzi, N, Fallini, C, Gkazi, A S, Topp, S D, Kost, J, Scotter, E L, Kenna, K P, Miller, J W, Tiloca, C, Vance, C, Danielson, E W, Troakes, C, Colombrita, C, Al-Sarraj, S, Lewis, E A, Nielsen, J E, Hjermind, L E, Reynolds, R H, Rowe, J B, The PROSPECT Consortium, The American Genome Center (TAGC), The FALS Sequencing Consortium, The Genomics England Research Consortium, The International ALS/FTD Genomics Consortium (iAFGC), The International FTD Genetics Consortium (IFGC), The International LBD Genomics Consortium (iLBDGC), The NYGC ALS Consortium & the University of Maryland Brain and Tissue Bank and NIH NeuroBioBank 2021, ' Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis ', Neuron, vol. 109, no. 3, pp. 448-460 . https://doi.org/10.1016/j.neuron.2020.11.005
460.e4
Neuron, 109(3), 448-460.e4. Cell Press
Neuron
Neuron, Volume 109, Issue 3, 3 February 2021, Pages 448-460.e4
Neuron, 109(3), 448-460.e4. CELL PRESS
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
Neuron, vol 109, iss 3

مصطلحات موضوعية: 0301 basic medicine, Huntington's Disease, Pathology, amyotrophic lateral sclerosis, Huntingtin, Neurology, 1702 Cognitive Sciences, International ALS/FTD Genomics Consortium, Neurodegenerative, frontotemporal dementia, 3124 Neurology and psychiatry, 0302 clinical medicine, Medicine, 2.1 Biological and endogenous factors, Psychology, Amyotrophic lateral sclerosis, Aetiology, Alzheimer's Disease Related Dementias (ADRD), NYGC ALS Consortium, Huntingtin Protein, DNA Repeat Expansion, General Neuroscience, Frontotemporal Dementia (FTD), International FTD Genetics Consortium, whole-genome sequencing, Frontotemporal Dementia, Neurological, Cognitive Sciences, Lewy body dementia, huntingtin, repeat expansions, Amyotrophic Lateral Sclerosis, Humans, Mutation, Whole Genome Sequencing, Frontotemporal dementia, Huntington’s disease, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, FALS Sequencing Consortium, Article, 03 medical and health sciences, Atrophy, Rare Diseases, American Genome Center, Clinical Research, mental disorders, Genetics, Acquired Cognitive Impairment, Dementia, PROSPECT Consortium, Neurology & Neurosurgery, Lewy body, business.industry, International LBD Genomics Consortium, Neurosciences, 3112 Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), nutritional and metabolic diseases, medicine.disease, Brain Disorders, nervous system diseases, 030104 developmental biology, Genomics England Research Consortium, 1701 Psychology, ALS, business, 1109 Neurosciences, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f4dfcf596994f50eb61abdd07587040
http://sro.sussex.ac.uk/id/eprint/95168/1/NEURON-D-20-01249_R3_final.pdf

المؤلفون: Augusto Rendon, A. Kousathanas, S. E. A. Leigh, D. Kasperaviciute, R. Jackson, J. Pullinger, Richard H. Scott, T. Rahim, Graeme C.M. Black, C. A. Odhams, Simon C Ramsden, A. Siddiq, L. Lahnstein, S. R. Thompson, Huw B. Thomas, Jenny Lord, M. Bleda, M. J. Welland, L. Moutsianas, A. Giess, Jill Clayton-Smith, A. Stuckey, Panagiotis I. Sergouniotis, H. Brittain, K. Sawant, Arianna Tucci, A. Sosinsky, I. U. S. Leong, Nicole Gossan, William G. Newman, Christopher Campbell, Mark J. Caulfield, T. Rogers, Diana Baralle, Andrew G. L. Douglas, A. L. Taylor Tavares, N. Murugaesu, Gavin Arno, S. M. Wood, Louise J. Jones, Robert A. Hirst, Htoo A Wai, A. Hamblin, Glenda M. Beaman, P. O’Donovan, A. Sieghart, F. Maleady-Crowe, S. Henderson, M. Tanguy, Claire Hardcastle, C. R. Boustred, G. C. Chan, M. McEntagart, Beatriz Gomes-Silva, E. Williams, Andrew R. Webster, Ellen R A Thomas, T. Fowler, Christine Patch, Raymond T. O'Keefe, Elizabeth A. Jones, D. Perez-Gil, M. B. Pereira, R. Bevers, F. J. Lopez, Jamie M Ellingford, Kevin Webb, M. Kayikci, S. C. Smith, F. Boardman-Pretty, Charlie Rowlands, K. Witkowsa, P. Arumugam, A. C. Need, Tim Hubbard, J. C. Ambrose, M. Mueller, Christopher O'Callaghan, F. Minneci, K. Savage

المصدر: Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: Prioritization, Genetic testing, Science, RNA Splicing, In silico, Computational biology, Biology, Article, Diagnosis, Differential, Human disease, Databases, Genetic, Diagnosis, RNA Precursors, Genetics, Humans, Disease, Clinical genetics, Medical diagnosis, Uncertain significance, Diagnostic Techniques and Procedures, Multidisciplinary, Disease genetics, Computational Biology, Genetic Variation, Diagnostic test, Exons, Genomics, Pathogenicity, Mutation, RNA splicing, Medicine, RNA Splice Sites, Algorithms

وصف الملف: text

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ab35c97f0d97111f801af95b74d199e
https://doi.org/10.22541/au.160157595.59675486