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1Academic Journal
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
Relation: https://discovery.ucl.ac.uk/id/eprint/10158400/1/Ryten_Assessing%20the%20digenic%20model%20in%20rare%20disorders%20using%20population%20sequencing%20data_AOP.pdf; https://discovery.ucl.ac.uk/id/eprint/10158400/
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2Academic Journal
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
Relation: 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.pdf; https://discovery.ucl.ac.uk/id/eprint/10142114/
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3Academic Journal
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
Relation: 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/awaa420; https://qmro.qmul.ac.uk/xmlui/handle/123456789/70063
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4Academic Journal
المؤلفون: Parry, DA, Martin, CA, Greene, P, Marsh, JA, 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, Blyth, M, Cox, H, Donnelly, D, Greenhalgh, L, Greville-Heygate, S, Harrison, V, Lachlan, K, McKenna, C, Quigley, AJ, Rea, G, Robertson, L, Suri, M, Jackson, AP
المصدر: Genetics in Medicine (2020) (In press).
مصطلحات موضوعية: LMNB1, LMNB2, laminopathy, primary microcephaly, neurodevelopmental disorder
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10113404/1/s41436-020-00980-3.pdf; https://discovery.ucl.ac.uk/id/eprint/10113404/
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5Academic Journal
المؤلفون: Cacheiro, P, Munoz-Fuentes, V, Murray, SA, Dickinson, ME, Bucan, M, Nutter, LMJ, Peterson, KA, Haselimashhadi, H, Flenniken, AM, Morgan, H, Westerberg, H, Konopka, T, Hsu, C-W, Christiansen, A, Lanza, DG, Beaudet, AL, Heaney, JD, Fuchs, H, Gailus-Durner, V, Sorg, T, Prochazka, J, Novosadova, V, Lelliott, CJ, Wardle-Jones, H, Wells, S, Teboul, L, Cater, H, Stewart, M, Hough, T, Wurst, W, Sedlacek, R, Adams, DJ, Seavitt, JR, Tocchini-Valentini, G, Mammano, F, Braun, RE, McKerlie, C, Herault, Y, de Angelis, MH, Mallon, A-M, Lloyd, KCK, Brown, SDM, Parkinson, H, Meehan, TF, Smedley, D, 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, Furio-Tari, P, Hackett, JM, Halai, D, Hamblin, A, Henderson, S, Holman, JE, Hubbard, TJP, Ibanez, K, Jackson, R, Jones, LJ, 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, 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, Marschall, S, Lengger, C, Maier, H, Seisenberger, C, Buerger, A, Kuehn, R, Schick, J, Hoerlein, A, Oritz, O, Giesert, F, Beig, J, Kenyon, J, Codner, G, Fray, M, Johnson, SJ, Cleak, J, Szoke-Kovacs, Z, Lafont, D, Vancollie, VE, McLaren, RSB, Hughes-Hallett, L, Rowley, C, Sanderson, E, Galli, A, Tuck, E, Green, A, Tudor, C, Siragher, E, Dabrowska, M, Mazzeo, CI, 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, GB, Champy, M-F, Jacobs, H, Wendling, O, Leblanc, S, Vasseur, L, Chesler, EJ, Kumar, V, White, JK, Svenson, KL, Wiegand, J-P, Anderson, LL, 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, Consortium, GER, Consortium, IMP
Relation: NATURE COMMUNICATIONS; ARTN 655; https://qmro.qmul.ac.uk/xmlui/handle/123456789/63299
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6Academic Journal
المؤلفون: Freeman, TM, Wang, D, Harris, J, Ambrose, JC, Arumugam, P, Baple, EL, Bleda, M, Boardman-Pretty, F, Boissiere, JM, Boustred, CR, Caulfield, MJ, Chan, GC, Craig, CEH, Daugherty, LC, de Burca, A, Devereau, A, Elgar, G, Foulger, RE, Fowler, T, Furio-Tari, P, Hackett, JM, Halai, D, Hamblin, A, Henderson, S, Holman, JE, Hubbard, TJP, Ibanez, K, Jackson, R, Jones, LJ, Kasperaviciute, D, Kayikci, M, Lahnstein, L, Lawson, K, Leigh, SEA, Leong, IUS, Lopez, JF, 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: Genome Research , 30 (3) pp. 415-426. (2020)
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10094957/1/Genome%20Res.-2020-Freeman-415-26.pdf; https://discovery.ucl.ac.uk/id/eprint/10094957/
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7Academic Journal
المؤلفون: Hong, Y, Nanthapisal, S, Omoyinmi, E, Olbrich, P, Neth, O, Speckmann, C, Lucena, JM, Gilmour, K, Worth, A, Klein, N, Eleftheriou, D, Brogan, P, 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, Furio-Tari, P, Hackett, JM, Halai, D, Hamblin, A, Henderson, S, Holman, JE, Hubbard, TJP, Ibanez, K, Jackson, R, Jones, LJ, 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
مصطلحات موضوعية: digital vasculitis, C1q deficiency, SHORT syndrome, activated PI3K delta syndrome type 2, hyper-IgM syndrome, immunodeficiency
Relation: FRONTIERS IN IMMUNOLOGY; ARTN 2589; https://qmro.qmul.ac.uk/xmlui/handle/123456789/66525
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8Academic Journal
المؤلفون: Wheway, G, Ambrose, JC, Baple, EL, Bleda, M, Boardman-Pretty, F, Boissiere, JM, Boustred, CR, Caulfield, MJ, Chan, GC, Craig, CEH, Daugherty, LC, de Burca, A, Devereau, A, Elgar, G, Foulger, RE, Fowler, T, Furio-Tari, 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, Mitchison, HM, Consortium, GER
مصطلحات موضوعية: 100,000 Genome Project, ciliopathies, cilia, genomics, genetics
Relation: FRONTIERS IN GENETICS; ARTN 569; https://qmro.qmul.ac.uk/xmlui/handle/123456789/67317
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