المؤلفون: Benkirane, Mehdi, Bonhomme, Marion, Morsy, Heba, Safgren, Stephanie, Marelli, Cecilia, Chaussenot, Annabelle, Smedley, Damian, Cipriani, Valentina, de Sainte-Agathe, Jean-Madeleine, Ding, Can, Larrieu, Lise, Vestito, Letizia, Margot, Henri, Lesca, Gaetan, Ramond, Francis, Castrioto, Anna, Baux, David, Verheijen, Jan, Sansa, Emna, Giunti, Paola, Haetty, Aline, Bergougnoux, Anne, Pointaux, Morgane, Ardouin, Olivier, van Goethem, Charles, Vincent, Marie-Claire, Hadjivassiliou, Marios, Cossée, Mireille, Rouaud, Tiphaine, Bartsch, Oliver, Freeman, William, Wierenga, Klaas, Klee, Eric, Ambrose, J, Arumugam, P, Baple, E, Bleda, M, Boardman-Pretty, F, Boissiere, J, Boustred, C, Brittain, H, Caulfield, M, Chan, G, Craig, C, Daugherty, L, de Burca, A, Devereau, A, Elgar, G, Foulger, R, Fowler, T, Furió-Tarí, P, Hackett, J, Halai, D, Hamblin, A, Henderson, S, Holman, J, Hubbard, T, Ibáñez, K, Jackson, R, Jones, L, Kasperaviciute, D, Kayikci, M, Lahnstein, L, Lawson, K, Leigh, S, Leong, I, Lopez, F, Maleady-Crowe, F, Mason, J, Mcdonagh, E, Moutsianas, L, Mueller, M, Murugaesu, N, Need, A, Odhams, C, Patch, C, Perez-Gil, D, Polychronopoulos, D, Pullinger, J, Rahim, T, Rendon, A, Riesgo-Ferreiro, P, Rogers, T, Ryten, M, Savage, K, Sawant, K, Scott, R, Siddiq, A, Sieghart, A, Smedley, D, Smith, K, Sosinsky, A, Spooner, W, Stevens, H, Stuckey, A, Sultana, R, Thomas, E, Thompson, S, Tregidgo, C, Tucci, A, Walsh, E, Watters, S, Welland, M, Williams, E, Witkowska, K, Wood, S, Zarowiecki, M, Vandrovcova, Jana, Houlden, Henry, Debant, Anne, Koenig, Michel

المساهمون: Physiologie & médecine expérimentale du Cœur et des Muscles U 1046 (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)

المصدر: ISSN: 0006-8950.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

العلاقة: hal-04615151; https://hal.science/hal-04615151Test

الإتاحة: https://doi.org/10.1093/brain/awae193Test
https://hal.science/hal-04615151Test

المؤلفون: Moreno-Ruiz, N, Ambrose, JC, Arumugam, P, Baple, EL, Bleda, M, Boardman-Pretty, F, Boissiere, JM, Boustred, CR, Brittain, H, Caulfield, MJ, Chan, GC, Craig, CEH, Daugherty, LC, de Burca, A, Devereau, A, Elgar, G, Foulger, RE, Fowler, T, Furió-Tarí, P, Giess, A, Hackett, JM, Halai, D, Hamblin, A, Henderson, S, Holman, JE, Hubbard, TJP, Ibáñez, K, Jackson, R, Jones, LJ, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Lawson, K, Leigh, SEA, Leong, IUS, Lopez, FJ, Maleady-Crowe, F, Mason, J, McDonagh, EM, Moutsianas, L, Mueller, M, Murugaesu, N, Need, AC, Odhams, CA, Orioli, A, Patch, C, Perez-Gil, D, Pereira, MB, Polychronopoulos, D, Pullinger, J, Rahim, T, Rendon, A, Riesgo-Ferreiro, P, Rogers, T, Ryten, M, Savage, K, Sawant, K, Scott, RH, Siddiq, A, Sieghart, A, Smedley, D, Smith, KR, Smith, SC, Sosinsky, A, Spooner, W, Stevens, HE, Stuckey, A, Sultana, R, Tanguy, M, Thomas, ERA, Thompson, SR, Tregidgo, C, Tucci, A, Walsh, E, Watters, SA, Welland, MJ, Williams, E, Witkowska, K, Wood, SM, Zarowiecki, M, Lao, O, Aróstegui, JI, Laayouni, H, Casals, F

المصدر: European Journal of Human Genetics (2022) (In press).

مصطلحات موضوعية: Genomics England Research Consortium

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10158400/1/Ryten_Assessing%20the%20digenic%20model%20in%20rare%20disorders%20using%20population%20sequencing%20data_AOP.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10158400Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10158400/1/Ryten_Assessing%20the%20digenic%20model%20in%20rare%20disorders%20using%20population%20sequencing%20data_AOP.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10158400Test/

المؤلفون: Owen, N, Toms, M, Young, RM, Eintracht, J, Sarkar, H, Brooks, BP, Moosajee, M, Ambrose, JC, Baple, EL, Bleda, M, Boardman-Pretty, F, Boissiere, JM, Boustred, CR, Caulfield, MJ, Chan, GC, Craig, CEH, Daugherty, LC, de, BA, Devereau, A, Elgar, G, Foulger, RE, Fowler, T, Furió-Tarí, P, Hackett, JM, Halai, D, Holman, JE, Hubbard, TJP, Jackson, R, Kasperaviciute, D, Kayikci, M, Lahnstein, L, Lawson, K, Leigh, SEA, Leong, IUS, Lopez, FJ, Maleady-Crowe, F, Mason, J, McDonagh, EM, Moutsianas, L, Mueller, M, Murugaesu, N, Need, AC, Odhams, CA, Patch, C, Perez-Gil, D, Polychronopoulos, D, Pullinger, J, Rahim, T, Rendon, A, Riesgo-Ferreiro, P, Rogers, T, Ryten, M, Savage, K, Sawant, K, Scott, RH, Siddiq, A, Sieghart, A, Smedley, D, Smith, KR, Sosinsky, A, Spooner, W, Stevens, HE, Stuckey, A, Sultana, R, Thomas, ERA, Thompson, SR, Tregidgo, C, Tucci, A, Walsh, E, Watters, SA, Welland, MJ, Williams, E, Witkowska, K, Wood, SM, Zarowiecki, M

المصدر: Genetics in Medicine (2022) (In press).

مصطلحات موضوعية: Coloboma, Congenital eye defects, Disease genetics, Genomic sequencing, Microphthalmia

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10142114/1/Owen_Identification%20of%204%20novel%20human%20ocular%20coloboma%20genes%20ANK3,%20BMPR1B,%20PDGFRA,%20and%20CDH4%20through%20evolutionary%20conserved%20vertebrate%20gene%20analysis_AOP.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10142114Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10142114/1/Owen_Identification%20of%204%20novel%20human%20ocular%20coloboma%20genes%20ANK3,%20BMPR1B,%20PDGFRA,%20and%20CDH4%20through%20evolutionary%20conserved%20vertebrate%20gene%20analysis_AOP.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10142114Test/

المؤلفون: Vig A., Poulter J. A., Ottaviani D., Tavares E., Toropova K., Tracewska A. M., Mollica A., Kang J., Kehelwathugoda O., Paton T., Maynes J. T., Wheway G., Arno G., 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., Craig C. E. H., Daugherty L. C., de Burca A., Devereau A., Elgar G., Foulger R. E., Fowler T., Furio-Tari P., Hackett J. M., Halai D., Hamblin A., Henderson S., Holman J. E., Hubbard T. J. P., Ibanez K., Jackson R., Jones L. J., Kasperaviciute D., Kayikci M., Lahnstein L., 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., Need A. C., Odhams C. A., Patch C., Perez-Gil D., Polychronopoulos D., Pullinger J., Rahim T., Rendon A., Riesgo-Ferreiro P., Rogers T., Ryten M., Savage K., Sawant K., Scott R. H., Siddiq A., Sieghart A., Smedley D., Smith K. R., Sosinsky A., Spooner W., 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., Williams E., Witkowska K., Wood S. M., Zarowiecki M., Khan K. N., McKibbin M., Toomes C., Ali M., Di Scipio M., Li S., Ellingford J., Black G., Webster A., Rydzanicz M., Stawinski P., Ploski R., Vincent A., Cheetham M. E., Inglehearn C. F., Roberts A., Heon E.

المساهمون: Vig, A., Poulter, J. A., Ottaviani, D., Tavares, E., Toropova, K., Tracewska, A. M., Mollica, A., Kang, J., Kehelwathugoda, O., Paton, T., Maynes, J. T., Wheway, G., Arno, G., 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., Craig, C. E. H., Daugherty, L. C., de Burca, A., Devereau, A., Elgar, G., Foulger, R. E., Fowler, T., Furio-Tari, P., Hackett, J. M., Halai, D., Hamblin, A., Henderson, S., Holman, J. E., Hubbard, T. J. P., Ibanez, K., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., 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., Need, A. C., Odhams, C. A., Patch, C., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K. R., Sosinsky, A., Spooner, W., 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., Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M., Khan, K. N., Mckibbin, M., Toomes, C., Ali, M., Di Scipio, M., Li, S., Ellingford, J., Black, G., Webster, A., Rydzanicz, M., Stawinski, P., Ploski, R., Vincent, A.

مصطلحات موضوعية: DYNC2H1, inherited retinal disease (IRD), intraflagellar transport (IFT), primary cilia, retinitis pigmentosa (RP)

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32753734; info:eu-repo/semantics/altIdentifier/wos/WOS:000555733600001; volume:22; issue:12; firstpage:2041; lastpage:2051; numberofpages:11; journal:GENETICS IN MEDICINE; https://hdl.handle.net/11577/3367769Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85088931786

الإتاحة: https://doi.org/10.1038/s41436-020-0915-1Test
https://hdl.handle.net/11577/3367769Test

المؤلفون: Parry, David A., Martin, Carol Anne, Greene, Philip, Marsh, Joseph A., 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., Craig, C. E. H., Daugherty, L. C., de Burca, A., Devereau, Andrew, Elgar, G., Foulger, R. E., Fowler, T., Furió-Tarí, P., Giess, A., Hackett, J. M., Halai, D., Hamblin, A., Henderson, S., Holman, J. E., Hubbard, T. J. B., Ibáñez, K., Jackson, R., Jones, L. J., Kasperaviciute, D, Kayikci, M., Kousathanas, A., Lahnstein, L., 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., Need, A. C., Odhams, C. A., Orioli, A., Patch, C., Perez-Gil, D., Pereira, M. B., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K. R., Smith, S. C., Sosinsky, A., Spooner, W., Stevens, H. E., Stuckey, A., Sultana, R., Tanguy, M., Thomas, E. R. A., Thompson, S. R., Tregidgo, C., Tucci, A., Walsh, E., Watters, S. A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M., Blyth, Moira, Cox, Helen, Donnelly, Deirdre, Greenhalgh, Lynn, Greville-Heygate, Stephanie, Harrison, Victoria, Lachlan, Katherine, McKenna, Caoimhe, Quigley, Alan J., Rea, Gillian, Robertson, Lisa, Suri, Mohnish, Jackson, Andrew P.

المصدر: Genomics England Research Consortium , Parry , D A , Martin , C A , Greene , P , Marsh , J A , 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 , Craig , C E H , Daugherty , L C , de Burca , A , Devereau , A , Elgar , G , Foulger , R E , ....

مصطلحات موضوعية: LMNB1, LMNB2, laminopathy, primary microcephaly, neurodevelopmental disorder

العلاقة: https://research.manchester.ac.uk/en/publications/bbd59f9a-7009-4d8e-93d7-5b67d5b9b1f0Test

الإتاحة: https://doi.org/10.1038/s41436-020-00980-3Test
https://research.manchester.ac.uk/en/publications/bbd59f9a-7009-4d8e-93d7-5b67d5b9b1f0Test
https://europepmc.org/articles/PMC7862057Test

المؤلفون: 100,000 Genomes Project Pilot Investigators, Smedley, D, Smith, KR, Martin, A, Thomas, EA, McDonagh, EM, Cipriani, V, Ellingford, JM, Arno, G, Tucci, A, Vandrovcova, J, Chan, G, Williams, HJ, Ratnaike, T, Wei, W, Stirrups, K, Ibanez, K, Moutsianas, L, Wielscher, M, Need, A, Barnes, MR, Vestito, L, Buchanan, J, Wordsworth, S, Ashford, S, Rehmström, K, Li, E, Fuller, G, Twiss, P, Spasic-Boskovic, O, Halsall, S, Floto, RA, Poole, K, Wagner, A, Mehta, SG, Gurnell, M, Burrows, N, James, R, Penkett, C, Dewhurst, E, Gräf, S, Mapeta, R, Kasanicki, M, Haworth, A, Savage, H, Babcock, M, Reese, MG, Bale, M, Baple, E, Boustred, C, Brittain, H, de Burca, A, Bleda, M, Devereau, A, Halai, D, Haraldsdottir, E, Hyder, Z, Kasperaviciute, D, Patch, C, Polychronopoulos, D, Matchan, A, Sultana, R, Ryten, M, Tavares, ALT, Tregidgo, C, Turnbull, C, Welland, M, Wood, S, Snow, C, Williams, E, Leigh, S, Foulger, RE, Daugherty, LC, Niblock, O, Leong, IUS, Wright, CF, Davies, J, Crichton, C, Welch, J, Woods, K, Abulhoul, L, Aurora, P, Bockenhauer, D, Broomfield, A, Cleary, MA, Lam, T, Dattani, M, Footitt, E, Ganesan, V, Grunewald, S, Compeyrot-Lacassagne, S, Muntoni, F, Pilkington, C, Quinlivan, R, Thapar, N, Wallis, C, Wedderburn, LR, Worth, A, Bueser, T, Compton, C, Deshpande, C, Fassihi, H, Haque, E, Izatt, L, Josifova, D, Mohammed, S, Robert, L, Rose, S, Ruddy, D, Sarkany, R, Say, G, Shaw, AC, Wolejko, A, Habib, B, Burns, G, Hunter, S, Grocock, RJ, Humphray, SJ, Robinson, PN, Haendel, M, Simpson, MA, Banka, S, Clayton-Smith, J, Douzgou, S, Hall, G, Thomas, HB, O'Keefe, RT, Michaelides, M, Moore, AT, Malka, S, Pontikos, N, Browning, AC, Straub, V, Gorman, GS, Horvath, R, Quinton, R, Schaefer, AM, Yu-Wai-Man, P, Turnbull, DM, McFarland, R, Taylor, RW, O'Connor, E, Yip, J, Newland, K, Morris, HR, Polke, J, Wood, NW, Campbell, C, Camps, C, Gibson, K, Koelling, N, Lester, T, Németh, AH, Palles, C, Patel, S, Roy, NBA, Sen, A, Taylor, J, Cacheiro, P, Jacobsen, JO, Seaby, EG, Davison, V, Chitty, L, Douglas, A, Naresh, K, McMullan, D, Ellard, S, Temple, IK, Mumford, AD, Wilson, G, Beales, P, Bitner-Glindzicz, M, Black, G, Bradley, JR, Brennan, P, Burn, J, Chinnery, PF, Elliott, P, Flinter, F, Houlden, H, Irving, M, Newman, W, Rahman, S, Sayer, JA, Taylor, JC, Webster, AR, Wilkie, AOM, Ouwehand, WH, Raymond, FL, Chisholm, J, Hill, S, Bentley, D, Scott, RH, Fowler, T, Rendon, A, Caulfield, M

المصدر: New England Journal of Medicine , 385 (20) pp. 1868-1880. (2021)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10138417/1/nejmoa2035790.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10138417Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10138417/1/nejmoa2035790.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10138417Test/

المؤلفون: Pagnamenta, AT, Kaiyrzhanov, R, Zou, Y, Da'as, SI, Maroofian, R, Donkervoort, S, Dominik, N, Lauffer, M, Ferla, MP, Orioli, A, Giess, A, Tucci, A, Beetz, C, Sedghi, M, Ansari, B, Barresi, R, Basiri, K, Cortese, A, Elgar, G, Fernandez-Garcia, MA, Yip, J, Foley, AR, Gutowski, N, Jungbluth, H, Lassche, S, Lavin, T, Marcelis, C, Marks, P, Marini-Bettolo, C, Medne, L, Moslemi, A-R, Sarkozy, A, Reilly, MM, Muntoni, F, Millan, F, Muraresku, CC, Need, AC, Nemeth, AH, Neuhaus, SB, Norwood, F, O'Donnell, M, O’Driscoll, M, Rankin, J, Yum, SW, Zolkipli-Cunningham, Z, Brusius, I, Wunderlich, G, Ambrose, JC, Arumugam, P, Baple, EL, Bleda, M, Boardman-Pretty, F, Boissiere, JM, Boustred, CR, Brittain, H, Caulfield, MJ, Chan, GC, Craig, CEH, Daugherty, LC, de Burca, A, Devereau, A, Foulger, RE, Fowler, T, Furió-Tarí, P, Hackett, JM, Halai, D, Hamblin, A, Henderson, S, Holman, JE, Hubbard, TJP, ibáñez, K, Jackson, R, Jones, LJ, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Lawson, K, Leigh, SEA, Leong, IUS, Lopez, JF, Maleady-Crowe, F, Mason, J, McDonagh, EM, Moutsianas, L, Mueller, M, Murugaesu, N, O’Donovan, P, Odhams, CA, Patch, C, Pereira, MB, Perez-Gil, D, Polychronopoulos, D, Pullinger, J, Rahim, T, Rendon, A, Riesgo-Ferreiro, P, Rogers, T, Ryten, M, Savage, K, Sawant, K, Scott, RH, Siddiq, A, Sieghart, A, Smedley, D, Smith, KR, Smith, SC, Sosinsky, A, Spooner, W, Stevens, HE, Stuckey, A, Sultana, R, Tanguy, M, Thomas, ERA, Thompson, SR, Tregidgo, C, Walsh, E, Watters, SA, Welland, MJ, Williams, E, Witkowska, K, Wood, SM, Zarowiecki, M, Karakaya, M, Wirth, B, Fakhro, KA, Tajsharghi, H, Bönnemann, CG, Taylor, JC, Houlden, H

العلاقة: Brain; Alistair T Pagnamenta, Rauan Kaiyrzhanov, Yaqun Zou, Sahar I Da'as, Reza Maroofian, Sandra Donkervoort, Natalia Dominik, Marlen Lauffer, Matteo P Ferla, Andrea Orioli, Adam Giess, Arianna Tucci, Christian Beetz, Maryam Sedghi, Behnaz Ansari, Rita Barresi, Keivan Basiri, Andrea Cortese, Greg Elgar, Miguel A Fernandez-Garcia, Janice Yip, A Reghan Foley, Nicholas Gutowski, Heinz Jungbluth, Saskia Lassche, Tim Lavin, Carlo Marcelis, Peter Marks, Chiara Marini-Bettolo, Livija Medne, Ali-Reza Moslemi, Anna Sarkozy, Mary M Reilly, Francesco Muntoni, Francisca Millan, Colleen C Muraresku, Anna C Need, Andrea H Nemeth, Sarah B Neuhaus, Fiona Norwood, Marie O'Donnell, Mary O’Driscoll, Julia Rankin, Sabrina W Yum, Zarazuela Zolkipli-Cunningham, Isabell Brusius, Gilbert Wunderlich, Genomics England Research Consortium, Mert Karakaya, Brunhilde Wirth, Khalid A Fakhro, Homa Tajsharghi, Carsten G Bönnemann, Jenny C Taylor, Henry Houlden, An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy, Brain, 2021;, awaa420, https://doi.org/10.1093/brain/awaa420Test; https://qmro.qmul.ac.uk/xmlui/handle/123456789/70063Test

الإتاحة: https://doi.org/10.1093/brain/awaa420Test
https://qmro.qmul.ac.uk/xmlui/handle/123456789/70063Test

المؤلفون: Dominik, Natalia, Magri, Stefania, Currò, Riccardo, Abati, Elena, Facchini, Stefano, Corbetta, Marinella, Macpherson, Hannah, Di Bella, Daniela, Sarto, Elisa, Stevanovski, Igor, Chintalaphani, Sanjog R, Akcimen, Fulya, Manini, Arianna, Vegezzi, Elisa, Quartesan, Ilaria, Montgomery, Kylie-Ann, Pirota, Valentina, Crespan, Emmanuele, Perini, Cecilia, Grupelli, Glenda Paola, Tomaselli, Pedro J, Marques, Wilson, 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, Craig, C E H, Daugherty, L C, de Burca, A, Devereau, A, Elgar, G, Foulger, R E, Fowler, T, Furió-Tarí, P, Gustavsson, E, Hackett, J M, Halai, D, Hamblin, A, Henderson, S, Holman, J E, Hubbard, T J P, Ibáñez, K, Jackson, R, Jones, L J, Kasperaviciute, D, Kayikci, M, Lahnstein, L, 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, Need, A C, Odhams, C A, Patch, C, Perez-Gil, D, Polychronopoulos, D, Pullinger, J, Rahim, T, Rendon, A, Riesgo-Ferreiro, P, Rogers, T, Ryten, M, Rugginini, B, Savage, K, Sawant, K, Scott, R H, Siddiq, A, Sieghart, A, Smedley, D, Smith, K R, Sosinsky, A, Spooner, W, 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, Williams, E, Witkowska, K, Wood, S M, Zarowiecki, M, Shaw, Joseph, Polke, James, Salsano, Ettore, Fenu, Silvia, Pareyson, Davide, Pisciotta, Chiara, Tofaris, George K, Nemeth, Andrea H, Ealing, John, Radunovic, Aleksandar, Kearney, Seamus, Kumar, Kishore R, Vucic, Steve, Kennerson, Marina, Reilly, Mary M, Houlden, Henry, Deveson, Ira, Tucci, Arianna, Taroni, Franco, Cortese, Andrea

المساهمون: Dominik, Natalia, Magri, Stefania, Currò, Riccardo, Abati, Elena, Facchini, Stefano, Corbetta, Marinella, Macpherson, Hannah, Di Bella, Daniela, Sarto, Elisa, Stevanovski, Igor, Chintalaphani, Sanjog R, Akcimen, Fulya, Manini, Arianna, Vegezzi, Elisa, Quartesan, Ilaria, Montgomery, Kylie-Ann, Pirota, Valentina, Crespan, Emmanuele, Perini, Cecilia, Grupelli, Glenda Paola, Tomaselli, Pedro J, Marques, Wilson, 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, Craig, C E H, Daugherty, L C, de Burca, A, Devereau, A, Elgar, G, Foulger, R E, Fowler, T, Furió-Tarí, P, Gustavsson, E, Hackett, J M, Halai, D, Hamblin, A, Henderson, S, Holman, J E, Hubbard, T J P, Ibáñez, K, Jackson, R, Jones, L J, Kasperaviciute, D, Kayikci, M, Lahnstein, L, 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, Need, A C, Odhams, C A, Patch, C, Perez-Gil, D, Polychronopoulos, D, Pullinger, J, Rahim, T, Rendon, A, Riesgo-Ferreiro, P, Rogers, T, Ryten, M, Rugginini, B, Savage, K, Sawant, K, Scott, R H, Siddiq, A, Sieghart, A, Smedley, D, Smith, K R, Sosinsky, A, Spooner, W, 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, Williams, E, Witkowska, K, Wood, S M, Zarowiecki, M, Shaw, Joseph, Polke, Jame

مصطلحات موضوعية: RFC1, CANVAS, ataxia, neuropathy, repeat expansions, long-read sequencing

العلاقة: volume:146; issue:12; firstpage:5060; lastpage:5069; numberofpages:10; journal:BRAIN; https://hdl.handle.net/11571/1486596Test; https://academic.oup.com/brain/article/146/12/5060/7224416?login=falseTest#

الإتاحة: https://doi.org/10.1093/brain/awad240Test
https://hdl.handle.net/11571/1486596Test
https://academic.oup.com/brain/article/146/12/5060/7224416?login=falseTest#

المؤلفون: Cacheiro P., Munoz-Fuentes V., Murray S. A., Dickinson M. E., Bucan M., Nutter L. M. J., Peterson K. A., Haselimashhadi H., Flenniken A. M., Morgan H., Westerberg H., Konopka T., Hsu C. -W., Christiansen A., Lanza D. G., Beaudet A. L., Heaney J. D., Fuchs H., Gailus-Durner V., Sorg T., Prochazka J., Novosadova V., Lelliott C. J., Wardle-Jones H., Wells S., Teboul L., Cater H., Stewart M., Hough T., Wurst W., Sedlacek R., Adams D. J., Seavitt J. R., Tocchini-Valentini G., Mammano F., Braun R. E., McKerlie C., Herault Y., de Angelis M. H., Mallon A. -M., Lloyd K. C. K., Brown S. D. M., Parkinson H., Meehan T. F., Smedley D., 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., Craig C. E. H., Daugherty L. C., de Burca A., Devereau A., Elgar G., Foulger R. E., Fowler T., Furio-Tari P., Hackett J. M., Halai D., Hamblin A., Henderson S., Holman J. E., Hubbard T. J. P., Ibanez K., Jackson R., Jones L. J., Kasperaviciute D., Kayikci M., Lahnstein L., 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., Need A. C., Odhams C. A., Patch C., Perez-Gil D., Polychronopoulos D., Pullinger J., Rahim T., Rendon A., Riesgo-Ferreiro P., Rogers T., Ryten M., Savage K., Sawant K., Scott R. H., Siddiq A., Sieghart A., Smith K. R., Sosinsky A., Spooner W., 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., Williams E., Witkowska K., Wood S. M., Zarowiecki M., Marschall S., Lengger C., Maier H., Seisenberger C., Burger A., Kuhn R., Schick J., Horlein A., Oritz O., Giesert F., Beig J., Kenyon J., Codner G., Fray M., Johnson S. J., Cleak J., Szoke-Kovacs Z., Lafont D., Vancollie V. E., McLaren R. S. B., Hughes-Hallett L., Rowley C., Sanderson E., Galli A., Tuck E., Green A., Tudor C., Siragher E., Dabrowska M., Mazzeo C. I., Griffiths M., Gannon D., Doe B., Cockle N., Kirton A., Bottomley J., Ingle C., Ryder E., Gleeson D., Ramirez-Solis R., Birling M. -C., Pavlovic G., Ayadi A., Hamid M., About G. B., Champy M. -F., Jacobs H., Wendling O., Leblanc S., Vasseur L., Chesler E. J., Kumar V., White J. K., Svenson K. L., Wiegand J. -P., Anderson L. L., Wilcox T., Clark J., Ryan J., Denegre J., Stearns T., Philip V., Witmeyer C., Bates L., Seavey Z., Stanley P., Willet A., Roper W., Creed J., Moore M., Dorr A., Fraungruber P., Presby R., Mckay M., Nguyen-Bresinsky D., Goodwin L., Urban R., Kane C.

المساهمون: Cacheiro, P., Munoz-Fuentes, V., Murray, S. A., Dickinson, M. E., Bucan, M., Nutter, L. M. J., Peterson, K. A., Haselimashhadi, H., Flenniken, A. M., Morgan, H., Westerberg, H., Konopka, T., Hsu, C. -W., Christiansen, A., Lanza, D. G., Beaudet, A. L., Heaney, J. D., Fuchs, H., Gailus-Durner, V., Sorg, T., Prochazka, J., Novosadova, V., Lelliott, C. J., Wardle-Jones, H., Wells, S., Teboul, L., Cater, H., Stewart, M., Hough, T., Wurst, W., Sedlacek, R., Adams, D. J., Seavitt, J. R., Tocchini-Valentini, G., Mammano, F., Braun, R. E., Mckerlie, C., Herault, Y., de Angelis, M. H., Mallon, A. -M., Lloyd, K. C. K., Brown, S. D. M., Parkinson, H., Meehan, T. F., Smedley, D., 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., Craig, C. E. H., Daugherty, L. C., de Burca, A., Devereau, A., Elgar, G., Foulger, R. E., Fowler, T., Furio-Tari, P., Hackett, J. M., Halai, D., Hamblin, A., Henderson, S., Holman, J. E., Hubbard, T. J. P., Ibanez, K., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., 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., Need, A. C., Odhams, C. A., Patch, C., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K., Scott, R. H., Siddiq, A.

مصطلحات موضوعية: R/BIOCONDUCTOR PACKAGE, DATABASE, VARIANTS, UPDATE, GENOME, IMPC

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32005800; info:eu-repo/semantics/altIdentifier/wos/WOS:000513245600040; volume:11; issue:1; firstpage:655; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/11577/3339749Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85078825003; https://www.nature.com/articles/s41467-020-14284-2Test

الإتاحة: https://doi.org/10.1038/s41467-020-14284-2Test
http://hdl.handle.net/11577/3339749Test
https://www.nature.com/articles/s41467-020-14284-2Test

المؤلفون: Wei, Wei, Pagnamenta, Alistair T., Gleadall, Nicholas, Sanchis-Juan, Alba, Stephens, Jonathan, Broxholme, John, Odhams, Christopher A., Fratter, Carl, Caulfield, Mark J., Taylor, Jenny C., Rahman, Shamima, Ambrose, J. C., Baple, E. L., Bleda, M., Boardman-Pretty, F., Boissiere, J. M., Boustred, C. R., Caulfield, M. J., Chan, G. C., 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., Holman, J. E., Hubbard, T. J. P., Jackson, R., Kasperaviciute, D., Kayikci, M., Lahnstein, L., 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., Need, A. C., Odhams, C. A., Patch, C., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K. R., Sosinsky, A., Spooner, W., 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., Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M., Tuna, Salih, Turro, Ernest, Chinnery, Patrick F.

مصطلحات موضوعية: Article, /631/208/2156, /631/208/726/649, /631/208/726/2129, /45, /45/23

وصف الملف: application/pdf; text/xml

العلاقة: https://www.repository.cam.ac.uk/handle/1810/308203Test

الإتاحة: https://doi.org/10.17863/CAM.55296Test
https://www.repository.cam.ac.uk/handle/1810/308203Test