المؤلفون: Olinger, Eric, Wilson, Ian J., Orr, Sarah, Barroso-Gil, Miguel, Neatu, Ruxandra, 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, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Pereira, Mariana Buongermino, 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., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Atan, Denize, Sayer, John A.

المساهمون: UCL - (SLuc) Centre de génétique médicale UCL

المصدر: Genetics in Medicine Open, Vol. 2, p. 101834 (2024)

Relation: boreal:291826; http://hdl.handle.net/2078.1/291826

الاتاحة: http://hdl.handle.net/2078.1/291826
https://doi.org/10.1016/j.gimo.2024.101834

المؤلفون: Clift, Ash Kieran, Mahon, Hadley, Khan, Ghazanfar, Boardman-Pretty, Freya, Worker, Amanda, Marchini, Elena, Buendia, Orlando, Fish, Peter, Khan, Mohid S.

وصف الملف: application/pdf

Relation: https://orca.cardiff.ac.uk/id/eprint/170843/1/41416_2024_Article_2736.pdf; Clift, Ash Kieran, Mahon, Hadley, Khan, Ghazanfar, Boardman-Pretty, Freya, Worker, Amanda, Marchini, Elena, Buendia, Orlando, Fish, Peter and Khan, Mohid S. https://orca.cardiff.ac.uk/view/cardiffauthors/A2108196S.html 2024. Identifying patients with undiagnosed small intestinal neuroendocrine tumours in primary care using statistical and machine learning: model development and validation study. British Journal of Cancer 131 , pp. 305-311. 10.1038/s41416-024-02736-1 https://doi.org/10.1038/s41416-024-02736-1 file https://orca.cardiff.ac.uk/id/eprint/170843/1/41416_2024_Article_2736.pdf

الاتاحة: https://orca.cardiff.ac.uk/id/eprint/170843/
https://doi.org/10.1038/s41416-024-02736-1
https://orca.cardiff.ac.uk/id/eprint/170843/1/41416_2024_Article_2736.pdf

المؤلفون: Shaw, Emogene, Flitcroft, Ian, Bowman, Richard, Baker, Kate, Genomics England Research Consortium, Ambrose, John C, Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R, Brittain, Helen, Brown, Matthew A, Caulfield, Mark J, Chan, Georgia C, Elgar, Greg, Giess, Adam, Griffin, John N, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim JP, Jackson, Rob, Jones, Louise J, Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah EA, Leong, Ivonne US, Lopez, Javier F, Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Mitchell, Jonathan, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C, O’Donovan, Peter, Odhams, Chris A, Patch, Christine, Pereira, Mariana Buongermino, 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, Melanie, Tavares, Ana LisaTaylor, Thomas, Ellen RA, Thompson, Simon R, Tucci, Arianna, Welland, Matthew J, Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M, Zarowiecki, Magdalena

مصطلحات موضوعية: Vision science

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/61/6/605; http://dx.doi.org/10.1136/jmg-2023-109670

الاتاحة: http://jmg.bmj.com/cgi/content/short/61/6/605
https://doi.org/10.1136/jmg-2023-109670

المؤلفون: Schönauer, Ria, Sierks, Dana, Boerrigter, Melissa, Jawaid, Tabinda, Caroff, Lea, Audrezet, Marie-Pierre, Friedrich, Anja, Shaw, Melissa, Degenhardt, Jan, Forberger, Mirjam, de Fallois, Jonathan, Bläker, Hendrik, Bergmann, Carsten, Gödiker, Juliana, Schindler, Philipp, Schlevogt, Bernhard, Müller, Roman-U., Berg, Thomas, Patterson, Ilse, Griffiths, William J., Sayer, John A., 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, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael

المساهمون: NIDDK, DFG, BMBF Berlin

المصدر: Gastroenterology ; volume 166, issue 5, page 902-914 ; ISSN 0016-5085

الاتاحة: http://dx.doi.org/10.1053/j.gastro.2023.12.007
https://api.elsevier.com/content/article/PII:S0016508523056032?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0016508523056032?httpAccept=text/plain

المؤلفون: Martins Custodio, Helena, Clayton, Lisa M, Bellampalli, Ravishankara, Pagni, Susanna, Silvennoinen, Katri, Caswell, Richard, Ambrose, John C, Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R, Brittain, Helen, Brown, Matthew A, Caulfield, Mark J, Chan, Georgia C, Giess, Adam, Griffin, John N, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J. P, Jackson, Rob, Jones, Louise J, Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Lakey, Anna, Leigh, Sarah E. A, Leong, Ivonne U. S, Lopez, Javier F, Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Mitchell, Jonathan, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C, O’Donovan, Peter, Odhams, Chris A, Patch, Christine, Perez-Gil, Daniel, Pereira, Marina B, 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, Tavares, Ana Lisa Taylor, Thomas, Ellen R. A, Thompson, Simon R, Tucci, Arianna, Welland, Matthew J, Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M, Zarowiecki, Magdalena, Brunklaus, Andreas, Guerrini, Renzo, Koeleman, Bobby P C, Lemke, Johannes R, Møller, Rikke S, Scheffer, Ingrid E, Weckhuysen, Sarah, Zara, Federico, Zuberi, Sameer, Kuchenbaecker, Karoline, Balestrini, Simona, Mills, James D, Sisodiya, Sanjay M

وصف الملف: text

Relation: https://eprints.gla.ac.uk/296305/1/296305.pdf; Martins Custodio, H. et al. (2023) Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition. Brain , (doi:10.1093/brain/awad111 ) (PMID:37006128) (Early Online Publication)

الاتاحة: https://eprints.gla.ac.uk/296305/
https://eprints.gla.ac.uk/296305/1/296305.pdf

المؤلفون: Chen, Zhongbo, Tucci, Arianna, Cipriani, Valentina, Gustavsson, Emil K, Ibañez, Kristina, Reynolds, Regina H, Zhang, David, Vestito, Letizia, García, Alejandro Cisterna, Sethi, Siddharth, Brenton, Jonathan W, García-Ruiz, Sonia, Fairbrother-Browne, Aine, Gil-Martinez, Ana-Luisa, Ambrose, John C, Arumugam, Prabhu, Bleda, Marta, Boardman-Pretty, Freya, Boissiere, Jeanne M, Boustred, Christopher R, Craig, Clare E H, de Burca, Anna, Devereau, Andrew, Elgar, Greg, Foulger, Rebecca E, Furió-Tarí, Pedro, Hackett, Joanne, Halai, Dina, Hamblin, Angela, Henderson, Shirley, Holman, James, Hubbard, Tim J P, Jackson, Rob, Jones, Louise J, Kayikci, Melis, Lahnstein, Lea, Lawson, Kay, Leigh, Sarah E A, Leong, Ivonne U S, Lopez, Javier F, Maleady-Crowe, Fiona, Mason, Joanne, Mueller, Michael, Murugaesu, Nirupa, Odhams, Chris A, Perez-Gil, Daniel, Polychronopoulos, Dimitris, Pullinger, John, Rahim, Tahrima, Riesgo-Ferreiro, Pablo

المساهمون: Leonard Wolfson Foundation, UK Medical Research Council, UK Dementia Research Institute, Alzheimer’s Society, Alzheimer’s Research UK, Wellcome Trust, Dolby Family Ventures, National Institute for Health and Care Research, Science and Technology Agency, Fundación Séneca, CARM

المصدر: Brain ; volume 146, issue 7, page 2869-2884 ; ISSN 0006-8950 1460-2156

الاتاحة: http://dx.doi.org/10.1093/brain/awad009
https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awad009/49589972/awad009.pdf
https://academic.oup.com/brain/article-pdf/146/7/2869/50784615/awad009.pdf

المؤلفون: Zanovello, Matteo, Ibáñez, Kristina, Brown, Anna-Leigh, Sivakumar, Prasanth, Bombaci, Alessandro, Santos, Liana, van Vugt, Joke J F A, Narzisi, Giuseppe, Karra, Ramita, Scholz, Sonja W, Ding, Jinhui, Gibbs, J Raphael, Chiò, Adriano, Dalgard, Clifton, Weisburd, Ben, 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, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C, O’Donovan, Peter, Odhams, Chris A, Patch, Christine, Pereira, Mariana Buongermino

المساهمون: UK Medical Research Council Clinician Scientist Fellowship, UK Medical Research Council Senior Clinical Fellowship and Lady Edith Wolfson Fellowship, UCLH NIHR Biomedical Research Centre, the Neurological Research Trust, KDUK, European Union’s Horizon 2020, National Institute on Aging

المصدر: Brain ; volume 146, issue 7, page 2723-2729 ; ISSN 0006-8950 1460-2156

الاتاحة: http://dx.doi.org/10.1093/brain/awad050
https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awad050/50170788/awad050.pdf
https://academic.oup.com/brain/article-pdf/146/7/2723/50784593/awad050.pdf

المؤلفون: Sadeghi-Alavijeh, Omid, Chan, Melanie M.Y., Moochhala, Shabbir H., Howles, Sarah, Gale, Daniel P., Böckenhauer, Detlef, 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, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Pereira, Mariana Buongermino, PerezGil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan

المصدر: Kidney International ; volume 104, issue 5, page 975-984 ; ISSN 0085-2538

الاتاحة: http://dx.doi.org/10.1016/j.kint.2023.06.019
https://api.elsevier.com/content/article/PII:S0085253823004738?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0085253823004738?httpAccept=text/plain

المؤلفون: Yahya, Samar, Smith, Claire E.L., Poulter, James A., McKibbin, Martin, Arno, Gavin, Ellingford, Jamie, Kämpjärvi, Kati, Khan, Muhammad I., Cremers, Frans P.M., Hardcastle, Alison J., Castle, Bruce, Steel, David H.W., Webster, Andrew R., Black, Graeme C., El-Asrag, Mohammed E., Ali, Manir, Toomes, Carmel, Inglehearn, Chris F., Ingram, Stuart, Taylor, Rachel, Manson, Forbes, Sergouniotis, Panagiotis, Pontikos, Nikolas, Cheetham, Michael, Fiorentino, Alessia, Downes, Susan, Yu, Jing, Halford, Stephanie, Broadgate, Suzanne, van Heyningen, Veronica, 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

المصدر: Ophthalmology ; volume 130, issue 1, page 68-76 ; ISSN 0161-6420

الاتاحة: http://dx.doi.org/10.1016/j.ophtha.2022.07.023
https://api.elsevier.com/content/article/PII:S0161642022005656?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0161642022005656?httpAccept=text/plain

المؤلفون: Worker, Amanda, Mahon, Hadley, Sams, Jack, Boardman-Pretty, Freya, Marchini, Elena, Dubis, Rand, Warren, Alan, Stockdale, Jez, Kumar, Jyothika, Varones, Elizabeth, Ollerenshaw, Daniel, Grant, Calum, Fish, Peter, Kelly, Richard J.

المصدر: Orphanet Journal of Rare Diseases; 10/13/2024, Vol. 19 Issue 1, p1-11, 11p

مصطلحات موضوعية: MACHINE learning, ELECTRONIC health records, BUDD-Chiari syndrome, MEDICAL personnel, DELAYED diagnosis

مصطلحات جغرافية: UNITED Kingdom

المؤلفون: Ibañez, Kristina, Polke, James, Hagelstrom, R Tanner, Dolzhenko, Egor, Pasko, Dorota, Thomas, Ellen Rachel Amy, Daugherty, Louise C, Kasperaviciute, Dalia, Smith, Katherine R, Deans, Zandra C, Hill, Sue, Fowler, Tom, Scott, Richard H, Hardy, John, Chinnery, Patrick F, Houlden, Henry, Rendon, Augusto, Caulfield, Mark J, Eberle, Michael A, Taft, Ryan J, Tucci, Arianna, Ambrose, John C., Arumugam, Prabhu, Bleda, Marta, Boardman-pretty, Freya, Boissiere, Jeanne M., Boustred, Christopher R., Craig, Clare E.h., De Burca, Anna, Devereau, Andrew, Elgar, Greg, Foulger, Rebecca E., Furió-tarí, Pedro, Hackett, Joanne, Halai, Dina, Hamblin, Angela, Henderson, Shirley, Holman, James, Hubbard, Tim J.p., Jackson, Rob, Jones, Louise J., Kayikci, Melis, Lahnstein, Lea, Lawson, Kay, Leigh, Sarah E.a., Leong, Ivonne U.s., Lopez, Javier F., Maleady-crowe, Fiona, Mason, Joanne, Mueller, Michael, Murugaesu, Nirupa, Odhams, Chris A., Perez-gil, Daniel, Polychronopoulos, Dimitris, Pullinger, John, Rahim, Tahrima, Riesgo-ferreiro, Pablo, Rogers, Tim, Ryten, Mina, Savage, Kevin, Sawant, Kushmita, Siddiq, Afshan, Sieghart, Alexander, Smedley, Damian, Sosinsky, Alona, Spooner, William, Stevens, Helen E., Stuckey, Alexander, Sultana, Razvan, Thompson, Simon R., Tregidgo, Carolyn, Walsh, Emma, Watters, Sarah A., Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Temple, Karen

وصف الملف: text

Relation: https://eprints.soton.ac.uk/455528/1/1_s2.0_S1474442221004622_main.pdf; Ibañez, Kristina, Polke, James, Hagelstrom, R Tanner, Dolzhenko, Egor, Pasko, Dorota, Thomas, Ellen Rachel Amy, Daugherty, Louise C, Kasperaviciute, Dalia, Smith, Katherine R, Deans, Zandra C, Hill, Sue, Fowler, Tom, Scott, Richard H, Hardy, John, Chinnery, Patrick F, Houlden, Henry, Rendon, Augusto, Caulfield, Mark J, Eberle, Michael A, Taft, Ryan J, Tucci, Arianna, Ambrose, John C., Arumugam, Prabhu, Bleda, Marta, Boardman-pretty, Freya, Boissiere, Jeanne M., Boustred, Christopher R., Craig, Clare E.h., De Burca, Anna, Devereau, Andrew, Elgar, Greg, Foulger, Rebecca E., Furió-tarí, Pedro, Hackett, Joanne, Halai, Dina, Hamblin, Angela, Henderson, Shirley, Holman, James, Hubbard, Tim J.p., Jackson, Rob, Jones, Louise J., Kayikci, Melis, Lahnstein, Lea, Lawson, Kay, Leigh, Sarah E.a., Leong, Ivonne U.s., Lopez, Javier F., Maleady-crowe, Fiona, Mason, Joanne, Mueller, Michael, Murugaesu, Nirupa, Odhams, Chris A., Perez-gil, Daniel, Polychronopoulos, Dimitris, Pullinger, John, Rahim, Tahrima, Riesgo-ferreiro, Pablo, Rogers, Tim, Ryten, Mina, Savage, Kevin, Sawant, Kushmita, Siddiq, Afshan, Sieghart, Alexander, Smedley, Damian, Sosinsky, Alona, Spooner, William, Stevens, Helen E., Stuckey, Alexander, Sultana, Razvan, Thompson, Simon R., Tregidgo, Carolyn, Walsh, Emma, Watters, Sarah A., Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena and Temple, Karen (2022) Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study. The Lancet Neurology, 21 (3), 234-245. (doi:10.1016/S1474-4422(21)00462-2 ).

الاتاحة: https://eprints.soton.ac.uk/455528/
https://eprints.soton.ac.uk/455528/1/1_s2.0_S1474442221004622_main.pdf

المؤلفون: Balachandar, Srimmitha, Graves, Tamara J, Shimonty, Anika, Kerr, Katie, Kilner, Jill, Xiao, Sihao, Slade, Richard, Sroya, Manveer, Alikian, Mary, Curetean, Emanuel, Thomas, Ellen, McConnell, Vivienne, McKee, Shane, Boardman-Pretty, Freya, Devereau, Andrew, Fowler, Tom A, Caulfield, Mark J, Alton, Eric W, Ferguson, Teena, Redhead, Julian, McKnight, Amy J., Thomas, Geraldine A, Research Consortium, Genomics England, Aldred, Micheala A, Shovlin, Claire L

المصدر: Balachandar , S , Graves , T J , Shimonty , A , Kerr , K , Kilner , J , Xiao , S , Slade , R , Sroya , M , Alikian , M , Curetean , E , Thomas , E , McConnell , V , McKee , S , Boardman-Pretty , F , Devereau , A , Fowler , T A , Caulfield , M J , Alton , E W , Ferguson , T , Redhead , J , McKnight , A J , Thomas , G A , Research Consortium , G E ....

مصطلحات موضوعية: Genetics, Genetics (clinical)

وصف الملف: application/pdf

الاتاحة: https://pure.qub.ac.uk/en/publications/b57c8db3-e414-4c81-802f-d796d520de2e
https://doi.org/10.1002/ajmg.a.62584
https://pureadmin.qub.ac.uk/ws/files/422266854/American_J_of_Med_Genetics_Pt_A_2021_Balachandar_Identification_and_validation_of_a_novel_pathogenic_variant_in_GDF2_.pdf

المؤلفون: Reijns, Martin A. M., Parry, David A., Williams, Thomas C., Nadeu, Ferran, Hindshaw, Rebecca L., Rios Szwed, Diana O., Nicholson, Michael D., Carroll, Paula, Boyle, Shelagh, Royo, Romina, Cornish, Alex J., Xiang, Hang, Ridout, Kate, 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, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Pereira, Mariana Buongermino, Perez-Gil, Daniel, Pullinger, John

المصدر: Nature ; volume 602, issue 7898, page 623-631 ; ISSN 0028-0836 1476-4687

الاتاحة: http://dx.doi.org/10.1038/s41586-022-04403-y
https://www.nature.com/articles/s41586-022-04403-y.pdf
https://www.nature.com/articles/s41586-022-04403-y

المؤلفون: Reijns, Martin A. M., Parry, David A., Williams, Thomas C., Nadeu, Ferran, Hindshaw, Rebecca L., Rios Szwed, Diana O., Nicholson, Michael D., Carroll, Paula, Boyle, Shelagh, Royo, Romina, Cornish, Alex J., Xiang, Hang, Ridout, Kate, 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, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Pereira, Mariana Buongermino, Perez-Gil, Daniel, Pullinger, John

المصدر: Nature ; volume 605, issue 7910, page E7-E7 ; ISSN 0028-0836 1476-4687

الاتاحة: https://doi.org/10.1038/s41586-022-04812-z
https://www.nature.com/articles/s41586-022-04812-z.pdf
https://www.nature.com/articles/s41586-022-04812-z

المؤلفون: Boardman-Pretty, Freya, Clift, Ashley Kieran, Mahon, Hadley, Sawoky, Nadine, Mughal, M Zulf

المصدر: Journal of Clinical Endocrinology & Metabolism; Aug2024, Vol. 109 Issue 8, p2012-2018, 7p

مصطلحات موضوعية: SYSTEMATIZED Nomenclature of Medicine, HYPOPHOSPHATEMIA, DELAYED diagnosis, PRIMARY care, FISHER exact test, TEENAGE girls

Reviews & Products: ODYSSEY of Homer

المؤلفون: Hyder, Zerin, Calpena, Eduardo, Pei, Yang, Tooze, Rebecca S, Brittain, Helen, Twigg, Stephen R F, Cilliers, Deirdre, Morton, Jenny E V, McCann, Emma, Weber, Astrid, Wilson, Louise C, Douglas, Andrew G L, McGowan, Ruth, Need, Anna, Bond, Andrew, Tavares, Ana Lisa Taylor, Thomas, Ellen R A, Hill, Susan L, Deans, Zandra C, Boardman-Pretty, Freya, Caulfield, Mark, Scott, Richard H, Wilkie, Andrew O M

وصف الملف: archive

Relation: https://eprints.soton.ac.uk/453631/1/FW_GIM_Decision_GIM_D_21_00383.zip; Genomics England Research Consortium (2021) Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis. Genetics in Medicine, 23 (12), 2360-2368. (doi:10.1038/s41436-021-01297-5 ).

الاتاحة: https://eprints.soton.ac.uk/453631/
https://eprints.soton.ac.uk/453631/1/FW_GIM_Decision_GIM_D_21_00383.zip

المؤلفون: Jones, Christine L., Degasperi, Andrea, Grandi, Vieri, Amarante, Tauanne D., Mitchell, Tracey J., Nik-Zainal, Serena, Whittaker, Sean J., Ambrose, John C., Arumugam, Prabhu, Baple, Emma L., Bleda, Marta, Boardman-Pretty, Freya, Boissiere, Jeanne M., Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Craig, Clare E. H., Daugherty, Louise C., de Burca, Anna, Devereau, Andrew, Elgar, Greg, Foulger, Rebecca E., Fowler, Tom, Furió-Tarí, Pedro, Giess, Adam, Hackett, Joanne M., Halai, Dina, Hamblin, Angela, Henderson, Shirley, Holman, James E., Hubbard, Tim J. P., Ibáñez, Kristina, Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Lawson, Kay, Leigh, Sarah E. A., Leong, Ivonne U. S., Lopez, Javier F., Maleady-Crowe, Fiona, Mason, Joanne, McDonagh, Ellen M., Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Orioli, Andrea, Patch, Christine, Pereira, Mariana Buongermino, Perez-Gil, Daniel, Polychronopoulos, Dimitris, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Riesgo-Ferreiro, Pablo, Rogers, Tim, Ryten, Mina, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smedley, Damian, Smith, Katherine R., Smith, Samuel C., Sosinsky, Alona, Spooner, William, Stevens, Helen E., Stuckey, Alexander, Sultana, Razvan, Tanguy, Mélanie, Thomas, Ellen R. A., Thompson, Simon R., Tregidgo, Carolyn, Tucci, Arianna, Walsh, Emma, Watters, Sarah A., Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena

مصطلحات موضوعية: Article, /631/67/1990/291/1621/1916, /631/67/69

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

Relation: https://www.repository.cam.ac.uk/handle/1810/317803

الاتاحة: https://doi.org/10.17863/CAM.64918
https://www.repository.cam.ac.uk/handle/1810/317803

المؤلفون: Freeman, Timothy M., Genomics England Research Consortium, Wang, Dennis, Harris, Jason, Ambrose, John C., Arumugam, Prabhu, Baple, Emma L., Bleda, Marta, Boardman-Pretty, Freya, Boissiere, Jeanne M., Boustred, Christopher R., Caulfield, Mark J., Chan, Georgia C., Craig, Clare E.H., Daugherty, Louise C., de Burca, Anna, Devereau, Andrew, Elgar, Greg, Foulger, Rebecca E., Fowler, Tom, Furió-Tarí, Pedro, Hackett, Joanne M., Halai, Dina, Hamblin, Angela, Henderson, Shirley, Holman, James E., Hubbard, Tim J.P., Ibáñez, Kristina, Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Lahnstein, Lea, Lawson, Kay, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, Mason, Joanne, McDonagh, Ellen M., Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., Odhams, Chris A., Patch, Christine, Perez-Gil, Daniel, Polychronopoulos, Dimitris, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Riesgo-Ferreiro, Pablo, Rogers, Tim, Ryten, Mina, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smedley, Damian, Smith, Katherine R., Sosinsky, Alona, Spooner, William, Stevens, Helen E., Stuckey, Alexander, Sultana, Razvan, Thomas, Ellen R.A., Thompson, Simon R., Tregidgo, Carolyn, Tucci, Arianna, Walsh, Emma, Watters, Sarah A., Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena

مصطلحات موضوعية: METHOD

وصف الملف: text/html

Relation: http://genome.cshlp.org/cgi/content/short/30/3/415; http://dx.doi.org/10.1101/gr.255349.119

الاتاحة: http://genome.cshlp.org/cgi/content/short/30/3/415
https://doi.org/10.1101/gr.255349.119

المؤلفون: Calpena, Eduardo, Cuellar, Araceli, Bala, Krithi, Swagemakers, Sigrid M.A., Koelling, Nils, McGowan, Simon J., Phipps, Julie M., Balasubramanian, Meena, Cunningham, Michael L., Douzgou, Sofia, Lattanzi, Wanda, Morton, Jenny E.V., Shears, Deborah, Weber, Astrid, Wilson, Louise C., Lord, Helen, Lester, Tracy, Johnson, David, Wall, Steven A., Twigg, Stephen R.F., Mathijssen, Irene M.J., Boardman-Pretty, Freya, Boyadjiev, Simeon A., Wilkie, Andrew O.M.

المصدر: Genetics in Medicine ; volume 22, issue 9, page 1498-1506 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-020-0817-2
http://www.nature.com/articles/s41436-020-0817-2.pdf
http://www.nature.com/articles/s41436-020-0817-2
https://api.elsevier.com/content/article/PII:S1098360021007140?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021007140?httpAccept=text/plain

المؤلفون: Calpena, Eduardo, Cuellar, Araceli, Bala, Krithi, Swagemakers, Sigrid M.A., Koelling, Nils, McGowan, Simon J., Phipps, Julie M., Balasubramanian, Meena, Cunningham, Michael L., Douzgou, Sofia, Lattanzi, Wanda, Morton, Jenny E.V., Shears, Deborah, Weber, Astrid, Wilson, Louise C., Lord, Helen, Lester, Tracy, Johnson, David, Wall, Steven A., Twigg, Stephen R.F., Mathijssen, Irene M.J., Boardman-Pretty, Freya, Boyadjiev, Simeon A., Wilkie, Andrew O.M.

المصدر: Genetics in Medicine ; volume 22, issue 9, page 1567 ; ISSN 1098-3600

الاتاحة: https://doi.org/10.1038/s41436-020-0886-2
http://www.nature.com/articles/s41436-020-0886-2.pdf
http://www.nature.com/articles/s41436-020-0886-2
https://api.elsevier.com/content/article/PII:S1098360021007292?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021007292?httpAccept=text/plain