المؤلفون: Klockner, C, Sticht, H, Zacher, P, Popp, B, Babcock, HE, Bakker, DP, Barwick, K, Bonfert, MV, Bonnemann, CG, Brilstra, EH, Chung, WK, Clarke, AJ, Devine, P, Donkervoort, S, Fraser, JL, Friedman, J, Gates, A, Ghoumid, J, Hobson, E, Horvath, G, Keller-Ramey, J, Keren, B, Kurian, MA, Lee, V, Leppig, KA, Lundgren, J, McDonald, MT, McTague, A, Mefford, HC, Mignot, C, Mikati, MA, Nava, C, Raymond, FL, Sampson, JR, Sanchis-Juan, A, Shashi, V, Shieh, JTC, Shinawi, M, Slavotinek, A, Stodberg, T, Stong, N, Sullivan, JA, Taylor, AC, Toler, TL, van den Boogaard, MJ, van der Crabben, SN, van Gassen, KLI, van Jaarsveld, RH, Van Ziffle, J, Wadley, AF, Wagner, M, Wigby, K, Wortmann, SB, Zarate, YA, Moller, RS, Lemke, JR, Platzer, K

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(4):653-660

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:145338504

المؤلفون: Sangermano, R, Garanto, A, Khan, M, Runhart, EH, Bauwens, M, Bax, NM, van den Born, LI, Khan, MI, Cornelis, SS, Verheij, JBGM, Pott, JWR, Thiadens, AAHJ, Klaver, CCW, Puech, B, Meunier, I, Naessens, S, Arno, G, Fakin, A, Carss, KJ, Raymond, FL, Webster, AR, Dhaenens, CM, Stohr, H, Grassmann, F, Weber, BHF, Hoyng, CB, De Baere, E, Albert, S, Collin, RWJ, Cremers, FPM

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 21(8):1751-1760

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:141534735

المؤلفون: Helbig, KL, Lauerer, RJ, Bahr, JC, Souza, IA, Myers, CT, Uysal, B, Schwarz, N, Gandini, MA, Huang, S, Keren, B, Mignot, C, Afenjar, A, de Villemeur, TB, Heron, D, Nava, C, Valence, S, Buratti, J, Fagerberg, CR, Soerensen, KP, Kibaek, M, Kamsteeg, EJ, Koolen, DA, Gunning, B, Schelhaas, HJ, Kruer, MC, Fox, J, Bakhtiari, S, Jarrar, R, Padilla-Lopez, S, Lindstrom, K, Jin, SC, Zeng, X, Bilguvar, K, Papavasileiou, A, Xin, QH, Zhu, CL, Boysen, K, Vairo, F, Lanpher, BC, Klee, EW, Tillema, JM, Payne, ET, Cousin, MA, Kruisselbrink, TM, Wick, MJ, Baker, J, Haan, E, Smith, N, Corbett, MA, MacLennan, AH, Gecz, J, Biskup, S, Goldmann, E, Rodan, LH, Kichula, E, Segal, E, Jackson, KE, Asamoah, A, Dimmock, D, McCarrier, J, Botto, LD, Filloux, F, Tvrdik, T, Cascino, GD, Klingerman, S, Neumann, C, Wang, R, Jacobsen, JC, Nolan, MA, Snell, RG, Lehnert, K, Sadleir, LG, Anderlid, BM, Kvarnung, M, Guerrini, R, Friez, MJ, Lyons, MJ, Leonhard, J, Kringlen, G, Casas, K, El Achkar, CM, Smith, LA, Rotenberg, A, Poduri, A, Sanchis-Juan, A, Carss, KJ, Rankin, J, Zeman, A, Raymond, FL, Blyth, M, Kerr, B, Ruiz, K, Urquhart, J, Hughes, I, Banka, S, Hedrich, UBS, Scheffer, IE, Helbig, I, Zamponi, GW, Lerche, H, Mefford, HC

المصدر: American journal of human genetics. 103(5):666-678

مصطلحات موضوعية: Medicin och hälsovetenskap, Klinisk medicin, Neurologi, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:139492388

المؤلفون: Bengani, H, Handley, M, Alvi, M, Ibitoye, R, Lees, M, Lynch, SA, Lam, W, Fannemel, M, Nordgren, A, Malmgren, H, Kvarnung, M, Mehta, S, McKee, S, Whiteford, M, Stewart, F, Connell, F, Clayton-Smith, J, Mansour, S, Mohammed, S, Fryer, A, Morton, J, Grozeva, D, Asam, T, Moore, D, Sifrim, A, McRae, J, Hurles, ME, Firth, HV, Raymond, FL, Kini, U, Nellaker, C, FitzPatrick, DR

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 19(8):900-908

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:136326802

المؤلفون: Takatani, R, Molinaro, A, Grigelioniene, G, Tafaj, O, Watanabe, T, Reyes, M, Sharma, A, Singhal, V, Raymond, FL, Linglart, A, Juppner, H

المصدر: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 31(4):796-805

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:133349056

المؤلفون: Klockner, C, Sticht, H, Zacher, P, Popp, B, Babcock, HE, Bakker, DP, Barwick, K, Bonfert, MV, Bonnemann, CG, Brilstra, EH, Chung, WK, Clarke, AJ, Devine, P, Donkervoort, S, Fraser, JL, Friedman, J, Gates, A, Ghoumid, J, Hobson, E, Horvath, G, Keller-Ramey, J, Keren, B, Kurian, MA, Lee, VA, Leppig, KA, Lundgren, J, McDonald, MT, McLaughlin, HM, McTague, A, Mefford, HC, Mignot, C, Mikati, MA, Nava, C, Raymond, FL, Sampson, JR, Sanchis-Juan, A, Shashi, V, Shieh, JTC, Shinawi, M, Slavotinek, A, Stodberg, T, Stong, N, Sullivan, JA, Taylor, AC, Toler, TL, van den Boogaard, MJ, van der Crabben, SN, van Gassen, KLI, van Jaarsveld, RH, Van Ziffle, J, Wadley, AF, Wagner, M, Wigby, K, Wortmann, SB, Zarate, YA, Moller, RS, Lemke, JR, Platzer, K

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(4):796-796

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:146229962

المؤلفون: Kim HJ, Mohassel P, Donkervoort S, Guo L, O'Donovan K, Coughlin M, Lornage X, Foulds N, Hammans SR, Foley AR, Fare CM, Ford AF, Ogasawara M, Sato A, Iida A, Munot P, Ambegaonkar G, Phadke R, O'Donovan DG, Buchert R, Grimmel M, Topf A, Zaharieva IT, Brady L, Hu Y, Lloyd TE, Klein A, Steinlin M, Kuster A, Mercier S, Marcorelles P, Pereon Y, Fleurence E, Manzur A, Ennis S, Upstill-Goddard R, Bello L, Bertolin C, Pegoraro E, Salviati L, French CE, Shatillo A, Raymond FL, Haack TB, Quijano-Roy S, Bohm J, Nelson I, Stojkovic T, Evangelista T, Straub V, Romero NB, Laporte J, Muntoni F, Nishino I, Tarnopolsky MA, Shorter J, Bonnemann CG, Taylor JP

المصدر: Nature Communications, December 2022

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/281875; https://eprints.ncl.ac.uk/fulltext.aspx?url=281875/723965D6-0C6E-42BC-9EE5-27C6D8E69056.pdf&pub_id=281875

الاتاحة: https://eprints.ncl.ac.uk/281875

المؤلفون: Küry, S, Zhang, J, Besnard, T, Caro-Llopis, A, Zeng, X, Robert, SM, Josiah, SS, Kiziltug, E, Denommé-Pichon, A-S, Cogné, B, Kundishora, AJ, Hao, LT, Li, H, Stevenson, RE, Louie, RJ, Deb, W, Torti, E, Vignard, V, McWalter, K, Raymond, FL, Rajabi, F, Ranza, E, Grozeva, D, Coury, SA, Blanc, X, Brischoux-Boucher, E, Keren, B, Õunap, K, Reinson, K, Ilves, P, Wentzensen, IM, Barr, EE, Guihard, SH, Charles, P, Seaby, EG, Monaghan, KG, Rio, M, van Bever, Y, van Slegtenhorst, M, Chung, WK, Wilson, A, Quinquis, D, Bréhéret, F, Retterer, K, Lindenbaum, P, Scalais, E, Rhodes, L, Stouffs, K, Pereira, EM, Berger, SM, Milla, SS, Jaykumar, AB, Cobb, MH, Panchagnula, S, Duy, PQ, Vincent, M, Mercier, S, Gilbert-Dussardier, B, Le Guillou, X, Audebert-Bellanger, S, Odent, S, Schmitt, S, Boisseau, P, Bonneau, D, Toutain, A, Colin, E, Pasquier, L, Redon, R, Bouman, A, Rosenfeld, JA, Friez, MJ, Pérez-Peña, H, Akhtar Rizvi, SR, Haider, S, Antonarakis, SE, Schwartz, CE, Martínez, F, Bézieau, S, Kahle, KT, Isidor, B

مصطلحات موضوعية: Exome sequencing, KCC2, Neurodevelopmental disease, WNK3, X-linked intellectual disability

Relation: Genetics in Medicine; orcid:0000-0001-8683-509X (Zhang, Jinwei); ScopusID: 24385918800 (Zhang, Jinwei); ResearcherID: N-8584-2017 (Zhang, Jinwei); Published online 9 June 2022; https://doi.org/10.1016/j.gim.2022.05.009; PRG471; IEC\NSFC\201094; R01NS073854; http://hdl.handle.net/10871/129894

الاتاحة: http://hdl.handle.net/10871/129894
https://doi.org/10.1016/j.gim.2022.05.009

المؤلفون: Reid, KM, Spaull, R, Salian, S, Barwick, K, Meyer, E, Zhen, J, Hirata, H, Sheipouri, D, Benkerroum, H, Gorman, KM, Papandreou, A, Simpson, MA, Hirano, Y, Farabella, I, Topf, M, Grozeva, D, Carss, K, Smith, M, Pall, H, Lunt, P, De Gressi, S, Kamsteeg, EJ, Haack, TB, Carr, L, Guerreiro, R, Bras, J, Maher, ER, Scott, RH, Vandenberg, RJ, Raymond, FL, Chong, WK, Sudhakar, S, Mankad, K, Reith, ME, Campeau, PM, Harvey, RJ, Kurian, MA

المصدر: Movement Disorders (2022) (In press).

مصطلحات موضوعية: MED27, MPPE1, SLC6A7, dystonia, status dystonicus

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10153087/1/Movement%20Disorders%20-%202022%20-%20Reid%20-%20MED27%20%20SLC6A7%20%20and%20MPPE1%20Variants%20in%20a%20Complex%20Neurodevelopmental%20Disorder%20with%20Severe.pdf; https://discovery.ucl.ac.uk/id/eprint/10153087/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10153087/1/Movement%20Disorders%20-%202022%20-%20Reid%20-%20MED27%20%20SLC6A7%20%20and%20MPPE1%20Variants%20in%20a%20Complex%20Neurodevelopmental%20Disorder%20with%20Severe.pdf
https://discovery.ucl.ac.uk/id/eprint/10153087/

المؤلفون: Jurkute, N, Cancellieri, F, Pohl, L, Li, CHZ, Heaton, R, Reurink, J, Bellingham, J, Quinodoz, M, Yioti, G, Stefaniotou, M, Weener, M, Zuleger, T, Haack, TB, Stingl, K, Hoyng, CB, Mahroo, OA, Hargreaves, IP, Raymond, FL, Michaelides, M, Rivolta, C, Kohl, S, Roosing, S, Webster, AR, Arno, G

مصطلحات موضوعية: QH426 Genetics

وصف الملف: text

Relation: https://researchonline.ljmu.ac.uk/id/eprint/17919/1/New%20paper%2021.10.22.pdf; Jurkute, N, Cancellieri, F, Pohl, L, Li, CHZ, Heaton, R, Reurink, J, Bellingham, J, Quinodoz, M, Yioti, G, Stefaniotou, M, Weener, M, Zuleger, T, Haack, TB, Stingl, K, Hoyng, CB, Mahroo, OA, Hargreaves, IP, Raymond, FL, Michaelides, M, Rivolta, C, Kohl, S, Roosing, S, Webster, AR and Arno, G (2022) Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype. Genomic Medicine, 7. ISSN 1871-7934

الاتاحة: http://researchonline.ljmu.ac.uk/id/eprint/17919/
https://researchonline.ljmu.ac.uk/id/eprint/17919/1/New%20paper%2021.10.22.pdf
https://doi.org/10.1038/s41525-022-00330-z

المؤلفون: Helbig, KL, Lauerer, RJ, Bahr, JC, Souza, IA, Myers, CT, Uysal, B, Schwarz, N, Gandini, MA, Huang, S, Keren, B, Mignot, C, Afenjar, A, de Villemeur, TB, Heron, D, Nava, C, Valence, S, Buratti, J, Fagerberg, CR, Soerensen, KP, Kibaek, M, Kamsteeg, EJ, Koolen, DA, Gunning, B, Schelhaas, HJ, Kruer, MC, Fox, J, Bakhtiari, S, Jarrar, R, Padilla-Lopez, S, Lindstrom, K, Jin, SC, Zeng, X, Bilguvar, K, Papavasileiou, A, Xing, QH, Zhu, CL, Boysen, K, Vairo, F, Lanpher, BC, Klee, EW, Tillema, JM, Payne, ET, Cousin, MA, Kruisselbrink, TM, Wick, MJ, Baker, J, Haan, E, Smith, N, Sadeghpour, A, Davis, EE, Katsanis, N, Corbett, MA, MacLennan, AH, Gecz, J, Biskup, S, Goldmann, E, Rodan, LH, Kichula, E, Segal, E, Jackson, KE, Asamoah, A, Dimmock, D, McCarrier, J, Botto, LD, Filloux, F, Tvrdik, T, Cascino, GD, Klingerman, S, Neumann, C, Wang, R, Jacobsen, JC, Nolan, MA, Snell, RG, Lehnert, K, Sadleir, LG, Anderlid, BM, Kvarnung, M, Guerrini, R, Friez, MJ, Lyons, MJ, Leonhard, J, Kringlen, G, Casas, K, El Achkar, CM, Smith, LA, Rotenberg, A, Poduri, A, Sanchis-Juan, A, Carss, KJ, Rankin, J, Zeman, A, Raymond, FL, Blyth, M, Kerr, B, Ruiz, K, Urquhart, J, Hughes, I, Banka, S, Hedrich, UBS, Scheffer, IE, Helbig, I, Zamponi, GW, Lerche, H, Mefford, HC

المصدر: American journal of human genetics. 104(3):562-562

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:140457584

المؤلفون: Jurkute, N, D'Esposito, F, Robson, AG, Pitceathly, RDS, Cordeiro, F, Raymond, FL, Moore, AT, Michaelides, M, Yu-Wai-Man, P, Webster, AR, Arno, G, Genomics England Research Consortium

المصدر: Investigative Ophthalmology & Visual Science , 62 (15) , Article 12. (2021)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10140758/1/i1552-5783-62-15-12_1639477860.14447.pdf; https://discovery.ucl.ac.uk/id/eprint/10140758/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10140758/1/i1552-5783-62-15-12_1639477860.14447.pdf
https://discovery.ucl.ac.uk/id/eprint/10140758/

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

Relation: https://discovery.ucl.ac.uk/id/eprint/10138417/1/nejmoa2035790.pdf; https://discovery.ucl.ac.uk/id/eprint/10138417/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10138417/1/nejmoa2035790.pdf
https://discovery.ucl.ac.uk/id/eprint/10138417/

المؤلفون: Jurkute, N, Shanmugarajah, PD, Hadjivassiliou, M, Higgs, J, Vojcic, M, Horrocks, I, Nadjar, Y, Touitou, V, Lenaers, G, Poh, R, Acheson, J, Robson, AG, Raymond, FL, Reilly, MM, Yu-Wai-Man, P, Moore, AT, Webster, AR, Arno, G, Genomics England Research Consortium, .

المصدر: Investigative Ophthalmology & Visual Science , 62 (6) , Article 2. (2021)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10129122/1/i1552-5783-62-6-2_1619781296.53172.pdf; https://discovery.ucl.ac.uk/id/eprint/10129122/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10129122/1/i1552-5783-62-6-2_1619781296.53172.pdf
https://discovery.ucl.ac.uk/id/eprint/10129122/

المؤلفون: Zagaglia, S, Steel, D, Krithika, S, Hernandez-Hernandez, L, Custodio, HM, Gorman, KM, Vezyroglou, A, Møller, RS, King Frcpch, MD, Hammer, TB, Spaull, R, Fazeli, W, Bartolomaeus, T, Doummar, D, Keren, B, Mignot, C, Bednarek, N, Cross, JH, Mallick, AA, Sanchis-Juan, A, Basu, A, Raymond, FL, Lynch, BJ, Majumdar Frcpch, A, Stamberger, H, Weckhuysen, S, Sisodiya, SM, Kurian, MA

المصدر: Neurology , 96 (11) e1539-e1550. (2021)

مصطلحات موضوعية: All Epilepsy/Seizures, Developmental disorders, Dystonia

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10124148/4/Sisodiya_RHOBTB2%20for%20Neurology%20revisions_March21.pdf; https://discovery.ucl.ac.uk/id/eprint/10124148/14/Sisodiya_RHOBTB2%20gene%20diagram%20v2_SZ.pdf; https://discovery.ucl.ac.uk/id/eprint/10124148/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10124148/4/Sisodiya_RHOBTB2%20for%20Neurology%20revisions_March21.pdf
https://discovery.ucl.ac.uk/id/eprint/10124148/14/Sisodiya_RHOBTB2%20gene%20diagram%20v2_SZ.pdf
https://discovery.ucl.ac.uk/id/eprint/10124148/

المؤلفون: Linden, SC, Watson, CJ, Smith, J, Chawner, SJRA, Lancaster, TM, Evans, F, Williams, N, Skuse, D, Raymond, FL, Hall, J, Owen, MJ, Linden, DEJ, Green-Snyder, L, Chung, WK, Maillard, AM, Jacquemont, S, van den Bree, MBM

المصدر: Translational Psychiatry , 11 (1) , Article 105. (2021)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10121709/1/s41398-021-01226-9.pdf; https://discovery.ucl.ac.uk/id/eprint/10121709/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10121709/1/s41398-021-01226-9.pdf
https://discovery.ucl.ac.uk/id/eprint/10121709/

المؤلفون: Cif, L, Demailly, D, Lin, J-P, Barwick, KE, Sa, M, Abela, L, Malhotra, S, Chong, WK, Steel, D, Sanchis-Juan, A, Ngoh, A, Trump, N, Meyer, E, Vasques, X, Rankin, J, Allain, MW, Applegate, CD, Attaripour Isfahani, S, Baleine, J, Balint, B, Bassetti, JA, Baple, EL, Bhatia, KP, Blanchet, C, Burglen, L, Cambonie, G, Seng, EC, Bastaraud, SC, Cyprien, F, Coubes, C, d'Hardemare, V, Deciphering Developmental Disorders Study, Doja, A, Dorison, N, Doummar, D, Dy-Hollins, ME, Farrelly, E, Fitzpatrick, DR, Fearon, C, Fieg, EL, Fogel, BL, Forman, EB, Fox, RG, Genomics England Research Consortium, Gahl, WA, Galosi, S, Gonzalez, V, Graves, TD, Gregory, A, Hallett, M, Hasegawa, H, Hayflick, SJ, Hamosh, A, Hully, M, Jansen, S, Jeong, SY, Krier, JB, Krystal, S, Kumar, KR, Laurencin, C, Lee, H, Lesca, G, François, LL, Lynch, T, Mahant, N, Martinez-Agosto, JA, Milesi, C, Mills, KA, Mondain, M, Morales-Briceno, H, NIHR BioResource, Ostergaard, JR, Pal, S, Pallais, JC, Pavillard, F, Perrigault, P-F, Petersen, AK, Polo, G, Poulen, G, Rinne, T, Roujeau, T, Rogers, C, Roubertie, A, Sahagian, M, Schaefer, E, Selim, L, Selway, R, Sharma, N, Signer, R, Soldatos, AG, Stevenson, DA, Stewart, F, Tchan, M, Undiagnosed Diseases Network, Verma, IC, de Vries, BBA, Wilson, JL, Wong, DA, Zaitoun, R, Zhen, D, Znaczko, A, Dale, RC, de Gusmão, CM, Friedman, J, Fung, VSC, King, MD, Mohammad, SS, Rohena, L, Waugh, JL, Toro, C, Raymond, FL, Topf, M, Coubes, P, Gorman, KM, Kurian, MA

المصدر: Brain , 143 (11) pp. 3242-3261. (2020)

مصطلحات موضوعية: KMT2B, deep brain stimulation (DBS), dystonia, genetics, neurodevelopment

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10117508/8/Kurian_KMT2B%20Main_Submitted_R1_Changes%20included.pdf; https://discovery.ucl.ac.uk/id/eprint/10117508/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10117508/8/Kurian_KMT2B%20Main_Submitted_R1_Changes%20included.pdf
https://discovery.ucl.ac.uk/id/eprint/10117508/

المؤلفون: De Bruijn, SE, Fiorentino, A, Ottaviani, D, Fanucchi, S, Melo, US, Corral-Serrano, JC, Mulders, T, Georgiou, M, Rivolta, C, Pontikos, N, Arno, G, Roberts, L, Greenberg, J, Albert, S, Gilissen, C, Aben, M, Rebello, G, Mead, S, Raymond, FL, Corominas, J, Smith, CEL, Kremer, H, Downes, S, Black, GC, Webster, AR, Inglehearn, CF, Van den Born, LI, Koenekoop, RK, Michaelides, M, Ramesar, RS, Hoyng, CB, Mundlos, S, Mhlanga, MM, Cremers, FPM, Cheetham, ME, Roosing, S, Hardcastle, AJ

المصدر: American Journal of Human Genetics (2020) (In press).

مصطلحات موضوعية: GDPD, Hi-C, RP17, dominant retinitis pigmentosa, ectopic expression, photoreceptor precursors cells, retinal organoids, stem cells, structural variants, topologically associated domains, whole-genome sequencing

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10112269/1/1-s2.0-S0002929720303220-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10112269/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10112269/1/1-s2.0-S0002929720303220-main.pdf
https://discovery.ucl.ac.uk/id/eprint/10112269/

المؤلفون: Turro, E, Astle, WJ, Megy, K, Gräf, S, Greene, D, Shamardina, O, Allen, HL, Sanchis-Juan, A, Frontini, M, Thys, C, Stephens, J, Mapeta, R, Burren, OS, Downes, K, Haimel, M, Tuna, S, Deevi, SVV, Aitman, TJ, Bennett, DL, Calleja, P, Carss, K, Caulfield, MJ, Chinnery, PF, Dixon, PH, Gale, DP, James, R, Koziell, A, Laffan, MA, Levine, AP, Maher, ER, Markus, HS, Morales, J, Morrell, NW, Mumford, AD, Ormondroyd, E, Rankin, S, Rendon, A, Richardson, S, Roberts, I, Roy, NBA, Saleem, MA, Smith, KGC, Stark, H, Tan, RYY, Themistocleous, AC, Thrasher, AJ, Watkins, H, Webster, AR, Wilkins, MR, Williamson, C, Whitworth, J, Humphray, S, Bentley, DR, NIHR BioResource for the 100,000 Genomes Project, ., Kingston, N, Walker, N, Bradley, JR, Ashford, S, Penkett, CJ, Freson, K, Stirrups, KE, Raymond, FL, Ouwehand, WH

المصدر: Nature , 583 pp. 96-102. (2020)

مصطلحات موضوعية: Computational biology and bioinformatics, Disease genetics, Genetics research

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10103489/1/Gale_Whole-genome%20sequencing%20of%20patients%20with%20rare%20diseases%20in%20a%20national%20health%20system_AAM.pdf; https://discovery.ucl.ac.uk/id/eprint/10103489/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10103489/1/Gale_Whole-genome%20sequencing%20of%20patients%20with%20rare%20diseases%20in%20a%20national%20health%20system_AAM.pdf
https://discovery.ucl.ac.uk/id/eprint/10103489/

المؤلفون: Ng, J, Cortès-Saladelafont, E, Abela, L, Termsarasab, P, Mankad, K, Sudhakar, S, Gorman, KM, Heales, SJR, Pope, S, Biassoni, L, Csányi, B, Cain, J, Rakshi, K, Coutts, H, Jayawant, S, Jefferson, R, Hughes, D, García-Cazorla, À, Grozeva, D, Raymond, FL, Pérez-Dueñas, B, De Goede, C, Pearson, TS, Meyer, E, Kurian, MA

المصدر: Movement Disorders (2020) (In press).

مصطلحات موضوعية: DNAJC6, auxilin, dopamine, dystonia, parkinsonism

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10100320/1/mds.28063.pdf; https://discovery.ucl.ac.uk/id/eprint/10100320/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10100320/1/mds.28063.pdf
https://discovery.ucl.ac.uk/id/eprint/10100320/