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, Ding, Jinhui, Gibbs, J Raphael, Chiò, Adriano, Dalgard, Clifton, Weisburd, Ben, Hanna, Michael G, Greensmith, Linda, Phatnani, Hemali, Veldink, Jan H, Traynor, Bryan J, Polke, James, Houlden, Henry, Fratta, Pietro, Tucci, Arianna

المساهمون: 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, Ding, Jinhui, Gibbs, J Raphael, Chiò, Adriano, Dalgard, Clifton, Weisburd, Ben, Hanna, Michael G, Greensmith, Linda, Phatnani, Hemali, Veldink, Jan H, Traynor, Bryan J, Polke, Jame, Houlden, Henry, Fratta, Pietro, Tucci, Arianna

مصطلحات موضوعية: androgen receptor, bioinformatics, population genetics, spinal and bulbar muscular atrophy, whole-genome sequencing

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36797998; info:eu-repo/semantics/altIdentifier/wos/WOS:000980256600001; volume:146; issue:7; firstpage:2723; lastpage:2729; numberofpages:7; journal:BRAIN; https://hdl.handle.net/20.500.11768/159116Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85164209619; https://academic.oup.com/brain/article/146/7/2723/7043521?login=trueTest

الإتاحة: https://doi.org/20.500.11768/159116Test
https://doi.org/10.1093/brain/awad050Test
https://hdl.handle.net/20.500.11768/159116Test
https://academic.oup.com/brain/article/146/7/2723/7043521?login=trueTest

المؤلفون: Lam, Tanya, Rocca, Clarissa, Ibanez, Kristina, Dalmia, Anupriya, Tallman, Samuel, Hadjivassiliou, Marios, Hensiek, Anke, Nemeth, Andrea, Facchini, Stefano, Genomics England Research Consortium, Wood, Nicholas, Cortese, Andrea, Houlden, Henry, Tucci, Arianna

المصدر: Brain Communications , 5 (5) , Article fcad244. (2023)

مصطلحات موضوعية: NOP56, SCA36, repeat expansion, spinocerebellar ataxia, whole-genome sequencing

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10179125/1/fcad244.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10179125Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10179125/1/fcad244.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10179125Test/

المؤلفون: Chen, Zhongbo, Tucci, Arianna, Cipriani, Valentina, Gustavsson, Emil K, Ibañez, Kristina, Reynolds, Regina H, Zhang, David, Vestito, Letizia, Cisterna García, Alejandro, Sethi, Siddharth, Brenton, Jonathan W, García-Ruiz, Sonia, Fairbrother-Browne, Aine, Gil-Martinez, Ana-Luisa, Genomics England Research Consortium Nick Wood, ., Hardy, John A, Smedley, Damian, Houlden, Henry, Botía, Juan, Ryten, Mina

المصدر: Brain , 146 , Article awad009. (2023)

مصطلحات موضوعية: Genomics England Research Consortium Nick Wood

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10163233/7/Houlden_awad009.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10163233Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10163233/7/Houlden_awad009.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10163233Test/

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

العلاقة: https://eprints.soton.ac.uk/455528/1/1_s2.0_S1474442221004622_main.pdfTest; 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 ).

الإتاحة: https://doi.org/10.1016/S1474-4422Test(21)00462-2
https://eprints.soton.ac.uk/455528Test/
https://eprints.soton.ac.uk/455528/1/1_s2.0_S1474442221004622_main.pdfTest

المؤلفون: Dolzhenko, Egor, Weisburd, Ben, Ibañez, Kristina, Rajan-Babu, Indhu-Shree, Anyansi, Christine, Bennett, Mark F., Billingsley, Kimberley, Carroll, Ashley, Clamons, Samuel, Danzi, Matt C., Deshpande, Viraj, Ding, Jinhui, Fazal, Sarah, Halman, Andreas, Jadhav, Bharati, Qiu, Yunjiang, Richmond, Phillip A., Saunders, Christopher T., Scheffler, Konrad, van Vugt, Joke J. F. A., Zwamborn, Ramona R. A. J., Chong, Samuel S., Friedman, Jan M., Tucci, Arianna, Rehm, Heidi L., Eberle, Michael A.

المساهمون: None

المصدر: Genome Medicine ; volume 14, issue 1 ; ISSN 1756-994X

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, Molecular Medicine

الإتاحة: https://doi.org/10.1186/s13073-022-01085-zTest

المؤلفون: Dewan, Ramita, Chia, Ruth, Ding, Jinhui, Hickman, Richard A., Stein, Thor D., Abramzon, Yevgeniya, Ahmed, Sarah, Sabir, Marya S., Portley, Makayla K., Tucci, Arianna, Ibañez, Kristina, Shankaracharya, F.N.U., Keagle, Pamela, Rossi, Giacomina, Caroppo, Paola, Tagliavini, Fabrizio, Waldo, Maria L., Johansson, Per M., Nilsson, Christer F., Infante Ceberio, Jon

المساهمون: Universidad de Cantabria

المصدر: Neuron, Volume 109, Issue 3, 3 February 2021, Pages 448-460.e4

مصطلحات موضوعية: Amyotrophic lateral sclerosis, Frontotemporal dementia, Lewy body dementia, Huntington’s disease, Whole-genome sequencing, Huntingtin, Repeat expansions

العلاقة: https://doi.org/10.1016/j.neuron.2020.11.005Test; http://hdl.handle.net/10902/24038Test

الإتاحة: https://doi.org/10.1016/j.neuron.2020.11.005Test
http://hdl.handle.net/10902/24038Test

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: 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

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

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

المؤلفون: Dhindsa, Ryan S., Mattsson, Johan, Nag, Abhishek, Wang, Quanli, Wain, Louise V., Allen, Richard, Wigmore, Eleanor M., Ibanez, Kristina, Vitsios, Dimitrios, Deevi, Sri V. V., Wasilewski, Sebastian, Karlsson, Maria, Lassi, Glenda, Olsson, Henric, Muthas, Daniel, Monkley, Susan, Mackay, Alex, Murray, Lynne, Young, Simon, Haefliger, Carolina, Maher, Toby M., Belvisi, Maria G., Jenkins, Gisli, Molyneaux, Philip L., Platt, Adam, Petrovski, Slavé

المصدر: Communications Biology ; volume 4, issue 1 ; ISSN 2399-3642

مصطلحات موضوعية: General Agricultural and Biological Sciences, General Biochemistry, Genetics and Molecular Biology, Medicine (miscellaneous)

الإتاحة: https://doi.org/10.1038/s42003-021-01910-yTest
https://www.nature.com/articles/s42003-021-01910-y.pdfTest
https://www.nature.com/articles/s42003-021-01910-yTest

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

المساهمون: University of Cambridge, Alzheimer's Society, Leverhulme Trust, National Institute for Health Research, Department of Health, Evelyn Trust, Wellcome Trust, Medical Research Council

المصدر: BMJ ; page e066288 ; ISSN 1756-1833

الإتاحة: https://doi.org/10.1136/bmj-2021-066288Test