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

المساهمون: Medical Research Council, Fondazione Cariplo, Inherited Neuropathy Consortium, Fondazione Regionale per la Ricerca Biomedica, National Ministry of Health, Italian Ministry for Universities and Research, Medical Research Future Fund Genomics Health Futures Mission, NIH Intramural Research Program, US National Institute on Aging, Telethon Foundation, Rotary Club Milano Ovest

المصدر: Brain ; volume 146, issue 12, page 5060-5069 ; ISSN 0006-8950 1460-2156

الاتاحة: http://dx.doi.org/10.1093/brain/awad240
https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awad240/52543385/awad240.pdf
https://academic.oup.com/brain/article-pdf/146/12/5060/53962945/awad240.pdf

المؤلفون: Moreno-Ruiz, Nerea, 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., Giess, A., 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., 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.

المصدر: European Journal of Human Genetics ; volume 30, issue 12, page 1439-1443 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/s41431-022-01191-x
https://www.nature.com/articles/s41431-022-01191-x.pdf
https://www.nature.com/articles/s41431-022-01191-x

المؤلفون: Gibson, Joel T., Huang, Mary, Shenelli Croos Dabrera, Marina, Shukla, Krushnam, Rothe, Hansjörg, Hilbert, Pascale, Deltas, Constantinos, Storey, Helen, Lipska-Ziętkiewicz, Beata S., Chan, Melanie M. Y., Sadeghi-Alavijeh, Omid, Gale, Daniel P., 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., Giess, A., 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., Kousathanas, A., Lahnstein, L., Lawson, K., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., Mason, J.

المصدر: Scientific Reports ; volume 12, issue 1 ; ISSN 2045-2322

الاتاحة: http://dx.doi.org/10.1038/s41598-022-06525-9
https://www.nature.com/articles/s41598-022-06525-9.pdf
https://www.nature.com/articles/s41598-022-06525-9

المؤلفون: Gibson, Joel T., Sadeghi-Alavijeh, Omid, Gale, Daniel P., Rothe, Hansjörg, Savige, Judy, 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., Giess, A., 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., 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.

المصدر: Scientific Reports ; volume 12, issue 1 ; ISSN 2045-2322

الاتاحة: http://dx.doi.org/10.1038/s41598-022-14928-x
https://www.nature.com/articles/s41598-022-14928-x.pdf
https://www.nature.com/articles/s41598-022-14928-x

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

Relation: 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/11577/3339749; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85078825003; https://www.nature.com/articles/s41467-020-14284-2

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

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)

Relation: 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/11577/3367769; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85088931786

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

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

Relation: https://research.manchester.ac.uk/en/publications/bbd59f9a-7009-4d8e-93d7-5b67d5b9b1f0

الاتاحة: https://research.manchester.ac.uk/en/publications/bbd59f9a-7009-4d8e-93d7-5b67d5b9b1f0
https://doi.org/10.1038/s41436-020-00980-3
https://europepmc.org/articles/PMC7862057

المؤلفون: Fensham, R. J., Holman, J. E.

المصدر: Journal of Applied Ecology, 1999 Dec 01. 36(6), 1035-1050.

URL الوصول: https://www.jstor.org/stable/2655878

المؤلفون: Fensham, R. J., Holman, J. E., Cox, M. J.

المصدر: Journal of Vegetation Science, 1999 Feb 01. 10(1), 77-86.

URL الوصول: https://www.jstor.org/stable/3237163

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

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

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

المؤلفون: Wei, Wei, Pagnamenta, Alistair T., Gleadall, Nicholas, Sanchis-Juan, Alba, Stephens, Jonathan, Broxholme, John, Tuna, Salih, Odhams, Christopher A., 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.

المصدر: Nature Communications ; volume 11, issue 1 ; ISSN 2041-1723

الاتاحة: https://doi.org/10.1038/s41467-020-17572-z
https://www.nature.com/articles/s41467-020-17572-z.pdf
https://www.nature.com/articles/s41467-020-17572-z

المؤلفون: Pleguezuelos-Manzano, Cayetano, Puschhof, Jens, Rosendahl Huber, Axel, van Hoeck, Arne, Wood, Henry M., Nomburg, Jason, Gurjao, Carino, Manders, Freek, Dalmasso, Guillaume, Stege, Paul B., Paganelli, Fernanda L., Geurts, Maarten H., Beumer, Joep, Mizutani, Tomohiro, Miao, Yi, van der Linden, Reinier, van der Elst, Stefan, 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., 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, L., Leigh, S. E. A., Leong, I. U. S.

المصدر: Nature. 580(7802):269-273

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-511044

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), 2079-2090 (2022). doi:10.1016/j.gim.2022.07.006

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Ataxia: genetics, Cerebellar Ataxia: genetics, Humans, Loss of Function Mutation, Muscle Spasticity: genetics, Mutation, Optic Atrophy: genetics, Pedigree, Spastic Paraplegia, Hereditary: genetics, Spinocerebellar Ataxias: genetics, Ubiquitin Thiolesterase: genetics, Gene burden, Proteomics, Spastic ataxia, UCHL1

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:35986737; info:eu-repo/semantics/altIdentifier/issn/1530-0366; info:eu-repo/semantics/altIdentifier/issn/1098-3600; https://pub.dzne.de/record/165108; https://pub.dzne.de/search?p=id:%22DZNE-2022-01417%22

الاتاحة: https://pub.dzne.de/record/165108
https://pub.dzne.de/search?p=id:%22DZNE-2022-01417%22

المؤلفون: Lesurf, Robert, Said, Abdelrahman, Akinrinade, Oyediran, Breckpot, Jeroen, Delfosse, Kathleen, Liu, Ting, Yao, Roderick, Persad, Gabrielle, McKenna, Fintan, Noche, Ramil R., Oliveros, Winona, Mattioli, Kaia, Shah, Shreya, Miron, Anastasia, Yang, Qian, Meng, Guoliang, Yue, Michelle Chan Seng, Sung, Wilson W. L., Thiruvahindrapuram, Bhooma, Lougheed, Jane, Oechslin, Erwin, Mondal, Tapas, Bergin, Lynn, Smythe, John, Jayappa, Shashank, Rao, Vinay J., Shenthar, Jayaprakash, Dhandapany, Perundurai S., Semsarian, Christopher, Weintraub, Robert G., Bagnall, Richard D., Ingles, Jodie, 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., Giess, A., 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., 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., Melé, Marta, Maass, Philipp G., Ellis, James, Scherer, Stephen W., Mital, Seema

Relation: Lesurf, Robert and Said, Abdelrahman and Akinrinade, Oyediran and Breckpot, Jeroen and Delfosse, Kathleen and Liu, Ting and Yao, Roderick and Persad, Gabrielle and McKenna, Fintan and Noche, Ramil R. and Oliveros, Winona and Mattioli, Kaia and Shah, Shreya and Miron, Anastasia and Yang, Qian and Meng, Guoliang and Yue, Michelle Chan Seng and Sung, Wilson W. L. and Thiruvahindrapuram, Bhooma and Lougheed, Jane and Oechslin, Erwin and Mondal, Tapas and Bergin, Lynn and Smythe, John and Jayappa, Shashank and Rao, Vinay J. and Shenthar, Jayaprakash and Dhandapany, Perundurai S. and Semsarian, Christopher and Weintraub, Robert G. and Bagnall, Richard D. and Ingles, Jodie and Ambrose, J. C. and Arumugam, P. and Baple, E. L. and Bleda, M. and Boardman-Pretty, F. and Boissiere, J. M. and Boustred, C. R. and Brittain, H. and Caulfield, M. J. and Chan, G. C. and Craig, C. E. H. and Daugherty, L. C. and de Burca, A. and Devereau, A. and Elgar, G. and Foulger, R. E. and Fowler, T. and Furió-Tarí, P. and Giess, A. and Hackett, J. M. and Halai, D. and Hamblin, A. and Henderson, S. and Holman, J. E. and Hubbard, T. J. P. and Ibáñez, K. and Jackson, R. and Jones, L. J. and Kasperaviciute, D. and Kayikci, M. and Kousathanas, A. and Lahnstein, L. and Lawson, K. and Leigh, S. E. A. and Leong, I. U. S. and Lopez, F. J. and Maleady-Crowe, F. and Mason, J. and McDonagh, E. M. and Moutsianas, L. and Mueller, M. and Murugaesu, N. and Need, A. C. and Odhams, C. A. and Orioli, A. and Patch, C. and Perez-Gil, D. and Pereira, M. B. and Polychronopoulos, D. and Pullinger, J. and Rahim, T. and Rendon, A. and Riesgo-Ferreiro, P. and Rogers, T. and Ryten, M. and Savage, K. and Sawant, K. and Scott, R. H. and Siddiq, A. and Sieghart, A. and Smedley, D. and Smith, K. R. and Smith, S. C. and Sosinsky, A. and Spooner, W. and Stevens, H. E. and Stuckey, A. and Sultana, R. and Tanguy, M. and Thomas, E. R. A. and Thompson, S. R. and Tregidgo, C. and Tucci, A. and Walsh, E. and Watters, S. A. and Welland, M. J. and Williams, E. and Witkowska, K. and Wood, S. M. and Zarowiecki, M. and Melé, Marta and Maass, Philipp G. and Ellis, James and Scherer, Stephen W. and Mital, Seema Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy. npj Genomic Medicine (2022), 7 (1) ISSN 2056-7944

الاتاحة: https://eprints.centenary.org.au/id/eprint/1325/
https://doi.org/10.1038/s41525-022-00288-y

المؤلفون: Dewan R., Chia R., Ding J., Hickman R. A., Stein T. D., Abramzon Y., Ahmed S., Sabir M. S., Portley M. K., Tucci A., Ibanez 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., 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., King A., Calini D., Pensato V., Castellotti B., de Belleroche J., Baas F., ten Asbroek A. L. M. A., Sapp P. C., McKenna-Yasek D., McLaughlin R. L., Polak M., Asress S., Esteban-Perez J., Munoz-Blanco J. L., Stevic Z., D'Alfonso S., Mazzini L., Comi G. P., Del Bo R., Ceroni M., Gagliardi S., Querin G., Bertolin C., van Rheenen W., Diekstra F. P., Rademakers R., van Blitterswijk M., Boylan K. B., Lauria G., Duga S., Corti S., Cereda C., Corrado L., Soraru G., Williams K. L., Nicholson G. A., Blair I. P., Leblond-Manry C., Rouleau G. A., Hardiman O., Morrison K. E., Veldink J. H., van den Berg L. H., Al-Chalabi A., Pall H., Shaw P. J., Turner M. R., Talbot K., Taroni F., Garcia-Redondo A., Wu Z., Gellera C., Ratti A., Brown R. H., Shaw C. E., 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., Jackson R., Jones L. J., Kasperaviciute D., Kayikci M., Lahnstein L., Lawson K., Leigh S. E. A., Leong I. U. S., Lopez J. F., 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., 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., Walsh E., Watters S. A., Welland M. J., Williams E., Witkowska K., Wood S. M., Zarowiecki M., Arepalli S., Auluck P., Baloh R. H., Bowser R., Brice A., Broach J., Camu W., Chio A., Cooper-Knock J., Corcia P., Drepper C., Drory V. E., Dunckley T. L., Faghri F., Farren J., Feldman E., Floeter M. K., Fratta P., Gerhard G., Gibson S. B., Goutman S. A., Heiman-Patterson T. D., Hernandez D. G., Hoover B., Jansson L., Kamel F., Kirby J., Kowall N. W., Laaksovirta H., Landi F., Le Ber I., Lumbroso S., MacGowan D. J., Maragakis N. J., Mora G., Mouzat K., Myllykangas L., Nalls M. A., Orrell R. W., Ostrow L. W., Pamphlett R., Pioro E., Pulst S. M., Ravits J. M., Renton A. E., Robberecht W., Robey I., Rogaeva E., Rothstein J. D., Sendtner M., Sidle K. C., Simmons Z., Stone D. J., Tienari P. J., Trojanowski J. Q., Troncoso J. C., Valori M., Van Damme P., Van Den Bosch L., Zinman L., Albani D., Borroni B., Padovani A., Bruni A., Clarimon J., Dols-Icardo O., Illan-Gala I., Lleo A., Danek A., Galimberti D., Scarpini E., Serpente M., Graff C., Chiang H. -H., Khoshnood B., Oijerstedt L., Morris C. M., Nacmias B., Sorbi S., Nielsen J. E., Hjermind L. E., Novelli V., Puca A. A., Pastor P., Alvarez I., Diez-Fairen M., Aguilar M., Perneczky R., Diehl-Schimd J., Rossi M., Ruiz A., Boada M., Hernandez I., Moreno-Grau S., Schlachetzki J. C., Aarsland D., Albert M. S., Attems J., Barrett M. J., Beach T. G., Bekris L. M., Bennett D. A., Besser L. M., Bigio E. H., Black S. E., Boeve B. F., Bohannan R. C., Brett F., Brunetti M., Caraway C. A., Palma J. -A., Calvo A., Canosa A., Dickson D., Duyckaerts C., Faber K., Ferman T., Flanagan M. E., Floris G., Foroud T. M., Fortea J., Gan-Or Z., Gentleman S., Ghetti B., Gibbs J. R., Goate A., Goldstein D., Gonzalez-Aramburu I., Graff-Radford N. R., Hodges A. K., Hu H. -C., Hupalo D., Infante J., Iranzo A., Kaiser S. M., Kaufmann H., Keith J., Kim R. C., Klein G., Kruger R., Kukull W., Kuzma A., Lage C., Lesage S., Leverenz J. B., Logroscino G., Lopez G., Love S., Mao Q., Marti M. J., Martinez-McGrath E., Masellis M., Masliah E., May P., McKeith I., Mesulam M. -M., Monuki E. S., Newell K. L., Norcliffe-Kaufmann L., Palmer L., Perkins M., Pletnikova O., Molina-Porcel L., Reynolds R. H., Rodriguez-Rodriguez E., Rohrer J. D., Sanchez-Juan P., Scherzer C. R., Serrano G. E., Shakkottai V., Sidransky E., Tayebi N., Thomas A. J., Tilley B. S., Walton R. L., Woltjer R., Wszolek Z. K., Xiromerisiou G., Zecca C., Phatnani H., Kwan J., Sareen D., Broach J. R., Arcila-Londono X., Lee E. B., Shneider N. A., Fraenkel E., Zaitlen N., Berry J. D., Malaspina A., Cox G. A., Thompson L. M., Finkbeiner S., Dardiotis E., Miller T. M., Chandran S., Pal S., Hornstein E., Heiman-Patterson T., Hammell M. G., Patsopoulos N. A., Butovsky O., Dubnau J., Nath A., Harms M., Aronica E., Poss M., Phillips-Cremins J., Crary J., Atassi N., Lange D. J., Adams D. J., Stefanis L., Gotkine M., Babu S., Raj T., Paganoni S., Shalem O., Smith C., Zhang B., Harris B., Broce I., Drory V., Ravits J., McMillan C., Menon V., Wu L., Altschuler S., Amar K., Archibald N., Bandmann O., Capps E., Church A., Coebergh J., Costantini A., Critchley P., Ghosh B. C., Hu M. T. M., Kobylecki C., Leigh P. N., Mann C., Massey L. A., Morris H. R., Nath U., Pavese N., Paviour D., Sharma J., Vaughan J., Rowe J. B., Benussi L., Binetti G., Ghidoni R., Jabbari E., Viollet C., Glass J. D., Singleton A. B., Silani V., Ross O. A., Ryten M., Torkamani A., Tanaka T., Ferrucci L., Resnick S. M., Pickering-Brown S., Brady C. B., Kowal N., Hardy J. A., Van Deerlin V., Vonsattel J. P., Harms M. B., Ferrari R., Landers J. E., Dalgard C. L., Scholz S. W., Traynor B. J.

المساهمون: Dewan R., Chia R., Ding J., Hickman R.A., Stein T.D., Abramzon Y., Ahmed S., Sabir M.S., Portley M.K., Tucci A., Ibanez 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., 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., King A., Calini D., Pensato V., Castellotti B., de Belleroche J., Baas F., ten Asbroek A.L.M.A., Sapp P.C., McKenna-Yasek D., McLaughlin R.L., Polak M., Asress S., Esteban-Perez J., Munoz-Blanco J.L., Stevic Z., D'Alfonso S., Mazzini L., Comi G.P., Del Bo R., Ceroni M., Gagliardi S., Querin G., Bertolin C., van Rheenen W., Diekstra F.P., Rademakers R., van Blitterswijk M., Boylan K.B., Lauria G., Duga S., Corti S., Cereda C., Corrado L., Soraru G., Williams K.L., Nicholson G.A., Blair I.P., Leblond-Manry C., Rouleau G.A., Hardiman O., Morrison K.E., Veldink J.H., van den Berg L.H., Al-Chalabi A., Pall H., Shaw P.J., Turner M.R., Talbot K., Taroni F., Garcia-Redondo A., Wu Z., Gellera C., Ratti A., Brown R.H.

مصطلحات موضوعية: amyotrophic lateral sclerosi, frontotemporal dementia, huntingtin, repeat expansion, whole-genome sequencing, Human, Huntingtin Protein, Mutation, Whole Genome Sequencing, DNA Repeat Expansion

Relation: info:eu-repo/semantics/altIdentifier/pmid/33242422; info:eu-repo/semantics/altIdentifier/wos/MEDLINE:33242422; volume:109; issue:3; firstpage:448; lastpage:460.e4; numberofpages:13; journal:NEURON; http://hdl.handle.net/2318/1778123; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097045939

الاتاحة: http://hdl.handle.net/2318/1778123
https://doi.org/10.1016/j.neuron.2020.11.005

المؤلفون: Cacheiro, Pilar, Muñoz-Fuentes, Violeta, Westerberg, Henrik, 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., Konopka, Tomasz, Thompson, S. R., Tregidgo, C., Tucci, A., Walsh, E., Watters, S. A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M., Hsu, Chih-Wei, Marschall, Susan, Lengger, Christoph, Maier, Holger, Seisenberger, Claudia, Bürger, Antje, Kühn, Ralf, Schick, Joel, Hörlein, Andreas, Oritz, Oskar, Giesert, Florian, Christiansen, Audrey, Beig, Joachim, Kenyon, Janet, Codner, Gemma, Fray, Martin, Johnson, Sara J, Cleak, James, Szoke-Kovacs, Zsombor, Lafont, David, Vancollie, Valerie E, McLaren, Robbie S B, Lanza, Denise G, Hughes-Hallett, Lena, Rowley, Christine, Sanderson, Emma, Galli, Antonella, Tuck, Elizabeth, Green, Angela, Tudor, Catherine, Siragher, Emma, Dabrowska, Monika, Mazzeo, Cecilia Icoresi, Beaudet, Arthur L, Griffiths, Mark, Gannon, David, Doe, Brendan, Cockle, Nicola, Kirton, Andrea, Bottomley, Joanna, Ingle, Catherine, Ryder, Edward, Gleeson, Diane, Ramirez-Solis, Ramiro, Heaney, Jason D, Birling, Marie-Christine, Pavlovic, Guillaume, Ayadi, Abdel, Hamid, Meziane, About, Ghina Bou, Champy, Marie-France, Jacobs, Hugues, Wendling, Olivia, Leblanc, Sophie, Vasseur, Laurent, Fuchs, Helmut, Chesler, Elissa J, Kumar, Vivek, White, Jacqueline K, Svenson, Karen L, Wiegand, Jean-Paul, Anderson, Laura L, Wilcox, Troy, Clark, James, Ryan, Jennifer, Denegre, James, Gailus-Durner, Valerie, Stearns, Tim, Philip, Vivek, Witmeyer, Catherine, Bates, Lindsay, Seavey, Zachary, Stanley, Pamela, Willet, Amelia, Roper, Willson, Creed, Julie, Moore, Michayla, Sorg, Tania, Dorr, Alex, Fraungruber, Pamelia, Presby, Rose, Mckay, Matthew, Nguyen-Bresinsky, Dong, Goodwin, Leslie, Urban, Rachel, Kane, Coleen, Murray, Stephen A, Prochazka, Jan, Novosadova, Vendula, Lelliott, Christopher J, Wardle-Jones, Hannah, Wells, Sara, Teboul, Lydia, Cater, Heather, Stewart, Michelle, Hough, Tertius, Wurst, Wolfgang, Dickinson, Mary E, Sedlacek, Radislav, Adams, David J, Seavitt, John R, Tocchini-Valentini, Glauco, Mammano, Fabio, Braun, Robert E, McKerlie, Colin, Herault, Yann, de Angelis, Martin Hrabě, Mallon, Ann-Marie, Bucan, Maja, Lloyd, K C Kent, Brown, Steve D M, Parkinson, Helen, Meehan, Terrence F, Smedley, Damian, Consortium, Genomics England Research, Consortium, International Mouse Phenotyping, Ambrose, J. C., Arumugam, P., Baple, E. L., Nutter, Lauryl M J, 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., Peterson, Kevin A, Devereau, A., Elgar, G., Foulger, R. E., Fowler, T., Furió-Tarí, P., Hackett, J. M., Halai, D., Hamblin, A., Henderson, S., Holman, J. E., Haselimashhadi, Hamed, 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., Flenniken, Ann M, 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., Morgan, Hugh, Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K.

المساهمون: Cacheiro, Pilar [0000-0002-6335-8208], Muñoz-Fuentes, Violeta [0000-0003-3574-546X], Nutter, Lauryl MJ [0000-0001-9619-146X], Peterson, Kevin A [0000-0001-8353-3694], Haselimashhadi, Hamed [0000-0001-7334-2421], Konopka, Tomasz [0000-0003-3042-4712], Hsu, Chih-Wei [0000-0002-9591-9567], Lanza, Denise G [0000-0001-8750-6933], Heaney, Jason D [0000-0001-8475-8828], Fuchs, Helmut [0000-0002-5143-2677], Gailus-Durner, Valerie [0000-0002-6076-0111], Lelliott, Christopher J [0000-0001-8087-4530], Adams, David J [0000-0001-9490-0306], Mammano, Fabio [0000-0003-3751-1691], McKerlie, Colin [0000-0002-2232-0967], Herault, Yann [0000-0001-7049-6900], de Angelis, Martin Hrabě [0000-0002-7898-2353], Lloyd, KC Kent [0000-0002-5318-4144], Smedley, Damian [0000-0002-5836-9850], Apollo - University of Cambridge Repository, Queen Mary University of London (QMUL), European Bioinformatics Institute [Hinxton] (EMBL-EBI), EMBL Heidelberg, The Jackson Laboratory [Bar Harbor] (JAX), Baylor College of Medicine (BCM), Baylor University, University of Pennsylvania, The Hospital for sick children [Toronto] (SickKids), Mount Sinai Hospital [Toronto, Canada] (MSH), MRC Harwell Institute [UK], Helmholtz Zentrum München = German Research Center for Environmental Health, Institut Clinique de la Souris (ICS), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), French National Infrastructure for Mouse Phenogenomics (PHENOMIN), Institute of Molecular Genetics of the Czech Academy of Sciences (IMG / CAS), Czech Academy of Sciences [Prague] (CAS), The Wellcome Trust Sanger Institute [Cambridge], Technische Universität München = Technical University of Munich (TUM), Ludwig-Maximilians-Universität München (LMU), CNR - Italian National Research Council (CNR), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), German Center for Diabetes Research - Deutsches Zentrum für Diabetesforschung [Neuherberg] (DZD), University of California [Davis] (UC Davis), University of California (UC), 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, 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, Susan Marschall, Christoph Lengger, Holger Maier, Claudia Seisenberger, Antje Bürger, Ralf Kühn, Joel Schick, Andreas Hörlein, Oskar Oritz, Florian Giesert, Joachim Beig, Janet Kenyon, Gemma Codner, Martin Fray, Sara J Johnson, James Cleak, Zsombor Szoke-Kovacs, David Lafont, Valerie E Vancollie, Robbie S B McLaren, Lena Hughes-Hallett, Christine Rowley, Emma Sanderson, Antonella Galli, Elizabeth Tuck, Angela Green, Catherine Tudor, Emma Siragher, Monika Dabrowska, Cecilia Icoresi Mazzeo, Mark Griffiths, David Gannon, Brendan Doe, Nicola Cockle, Andrea Kirton, Joanna Bottomley, Catherine Ingle, Edward Ryder, Diane Gleeson, Ramiro Ramirez-Solis, Marie-Christine Birling, Guillaume Pavlovic, Abdel Ayadi, Meziane Hamid, Ghina Bou About, Marie-France Champy, Hugues Jacobs, Olivia Wendling, Sophie Leblanc, Laurent Vasseur, Elissa J Chesler, Vivek Kumar, Jacqueline K White, Karen L Svenson, Jean-Paul Wiegand, Laura L Anderson, Troy Wilcox, James Clark, Jennifer Ryan, James Denegre, Tim Stearns, Vivek Philip, Catherine Witmeyer, Lindsay Bates, Zachary Seavey, Pamela Stanley, Amelia Willet, Willson Roper, Julie Creed, Michayla Moore, Alex Dorr, Pamelia Fraungruber, Rose Presby, Matthew Mckay, Dong Nguyen-Bresinsky, Leslie Goodwin, Rachel Urban, Coleen Kane, Herault, Yann, Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)

المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Nat. Commun. 11:655 (2020)
Nature Communications 11(1), 655 (2020). doi:10.1038/s41467-020-14284-2
Nature Communications
Nature Communications, 2020, 11 (1), ⟨10.1038/s41467-020-14284-2⟩
Nature communications 11 (2020): 1–16. doi:10.1038/s41467-020-14284-2
info:cnr-pdr/source/autori:Cacheiro, Pilar; Munoz-Fuentes, Violeta; Murray, Stephen A.; Dickinson, Mary E.; Bucan, Maja; Nutter, Lauryl M. J.; Peterson, Kevin A.; Haselimashhadi, Hamed; Flenniken, Ann M.; Morgan, Hugh; Westerberg, Henrik; Konopka, Tomasz; Hsu, Chih-Wei; Christiansen, Audrey; Lanza, Denise G.; Beaudet, Arthur L.; Heaney, Jason D.; Fuchs, Helmut; Gailus-Durner, Valerie; Sorg, Tania; Prochazka, Jan; Novosadova, Vendula; Lelliott, Christopher J.; Wardle-Jones, Hannah; Wells, Sara; Teboul, Lydia; Cater, Heather; Stewart, Michelle; Hough, Tertius; Wurst, Wolfgang; Sedlacek, Radislav; Adams, David J.; Seavitt, John R.; Tocchini-Valentini, Glauco; Mammano, Fabio; Braun, Robert E.; McKerlie, Colin; Herault, Yann; de Angelis, Martin Hrabe; Mallon, Ann-Marie; Lloyd, K. C. Kent; Brown, Steve D. M.; Parkinson, Helen; Meehan, Terrence F.; Smedley, Damian; 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, Susan; Lengger, Christoph; Maier, Holger; Seisenberger, Claudia; Buerger, Antje; Kuehn, Ralf; Schick, Joel; Hoerlein, Andreas; Oritz, Oskar; Giesert, Florian; Beig, Joachim; Kenyon, Janet; Codner, Gemma; Fray, Martin; Johnson, Sara J.; Cleak, James; Szoke-Kovacs, Zsombor; Lafont, David; Vancollie, Valerie E.; McLaren, Robbie S. B.; Hughes-Hallett, Lena; Rowley, Christine; Sanderson, Emma; Galli, Antonella; Tuck, Elizabeth; Green, Angela; Tudor, Catherine; Siragher, Emma; Dabrowska, Monika; Mazzeo, Cecilia Icoresi; Griffiths, Mark; Gannon, David; Doe, Brendan; Cockle, Nicola; Kirton, Andrea; Bottomley, Joanna; Ingle, Catherine; Ryder, Edward; Gleeson, Diane; Ramirez-Solis, Ramiro; Birling, Marie-Christine; Pavlovic, Guillaume; Ayadi, Abdel; Hamid, Meziane; About, Ghina Bou; Champy, Marie-France; Jacobs, Hugues; Wendling, Olivia; Leblanc, Sophie; Vasseur, Laurent; Chesler, Elissa J.; Kumar, Vivek; White, Jacqueline K.; Svenson, Karen L.; Wiegand, Jean-Paul; Anderson, Laura L.; Wilcox, Troy; Clark, James; Ryan, Jennifer; Denegre, James; Stearns, Tim; Philip, Vivek; Witmeyer, Catherine; Bates, Lindsay; Seavey, Zachary; Stanley, Pamela; Willet, Amelia; Roper, Willson; Creed, Julie; Moore, Michayla; Dorr, Alex; Fraungruber, Pamelia; Presby, Rose; Mckay, Matthew; Nguyen-Bresinsky, Dong; Goodwin, Leslie; Urban, Rachel; Kane, Coleen/titolo:Human and mouse essentiality screens as a resource for disease gene discovery/doi:10.1038%2Fs41467-020-14284-2/rivista:Nature communications/anno:2020/pagina_da:1/pagina_a:16/intervallo_pagine:1–16/volume:11
Nature Communications, Nature Publishing Group, 2020, 11 (1), ⟨10.1038/s41467-020-14284-2⟩
Nature communications, vol 11, iss 1

مصطلحات موضوعية: 0301 basic medicine, Mutation rate, Cancer Research, [SDV]Life Sciences [q-bio], General Physics and Astronomy, methods [Genetic Association Studies], Disease, VARIANTS, Mice, Essential, 0302 clinical medicine, IMPC, Genetics research, Lethal allele, 2.1 Biological and endogenous factors, Aetiology, lcsh:Science, Organism, ComputingMilieux_MISCELLANEOUS, Disease gene, Mice, Knockout, 0303 health sciences, Multidisciplinary, Genes, Essential, genetics [Disease], Genomics, R/BIOCONDUCTOR PACKAGE, DATABASE, UPDATE, GENOME, [SDV] Life Sciences [q-bio], Knockout mouse, Identification (biology), ddc:500, International Mouse Phenotyping Consortium, Technology Platforms, Biotechnology, Knockout, Science, Computational biology, Biology, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, Genetics, medicine, Animals, Humans, Genetic variation, Clinical genetics, Gene, Genetic Association Studies, 030304 developmental biology, Disease model, Prevention, Human Genome, General Chemistry, medicine.disease, Developmental disorder, Good Health and Well Being, 030104 developmental biology, Genomics England Research Consortium, Genes, lcsh:Q, Generic health relevance, 030217 neurology & neurosurgery, Rare disease

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::814ec4680703a794c0981226b81ed4d3

المؤلفون: Vig, Anjali, Poulter, James A., Ottaviani, Daniele, Tavares, Erika, Toropova, Katerina, Tracewska, Anna Maria, Mollica, Antonio, Kang, Jasmine, Kehelwathugoda, Oshini, Paton, Tara, Maynes, Jason T., Wheway, Gabrielle, Arno, Gavin, 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., Hackett, J. M., Halai, D., Hamblin, A., Henderson, S., Holman, J. E., Hubbard, T. J.P., Ibáñez, K., Jackson, R., Jones, L. J., Mason, J., McDonagh, E. M., Mueller, M., Scott, R. H., Smith, K. R., Thomas, E. R.A., Thompson, S.R., Walsh, E., Williams, E., Wood, S. M.

Relation: Vig, Anjali, Poulter, James A. and Ottaviani, Daniele , et al. and Genomics England Research Consortium (2020) DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration. Genetics in Medicine, 22 (12), 2041-2051. (doi:10.1038/s41436-020-0915-1 ).

الاتاحة: https://eprints.soton.ac.uk/444752/

المؤلفون: Fensham, R. J., Fairfax, R. J., Holman, J. E., Whitehead, P. J.

المصدر: International Journal of Remote Sensing ; volume 23, issue 11, page 2293-2317 ; ISSN 0143-1161 1366-5901

الاتاحة: https://doi.org/10.1080/01431160110106050
https://www.tandfonline.com/doi/pdf/10.1080/01431160110106050

المؤلفون: Wheway, Gabrielle, Ambrose, J. C., Baple, E. L., Bleda, M., Boardman-Pretty, F., Boissiere, J. M., Boustred, C. R., Caulfield, M. J., Chan, G. C., Daugherty, L. C., de Burca, A., Devereau, A., Elgar, G., Foulger, R. E., Fowler, T., Furio-Tari, 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., Moutsianas, L., 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., Siddiq, A., Sieghart, A., Smedley, D., Sosinsky, A., Spooner, W., Stevens, H. E.

Relation: Wheway, Gabrielle , Hannah M Mitchison (2019) Corrigendum: Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project (vol 10, 127, 2019). Frontiers in Genetics, 10, [589]. (doi:10.3389/fgene.2019.00569 ).

الاتاحة: https://eprints.soton.ac.uk/440947/

المؤلفون: Holman, J. E., Hughes, J. M., Fensham, R. J.

مصطلحات موضوعية: chloroplast DNA, Eucalyptus, microsatellites, morphological cline, phylogeography, 060311 Speciation and Extinction

Relation: orcid:0000-0003-3658-5867

الاتاحة: https://espace.library.uq.edu.au/view/UQ:162161