부산대학교 도서관

BMJ: British Medical Journal, 2014 Nov . 349

Anna-Louise Milne; David Tresilian; Joanne Brueton

Francosphères, Vol 11, Iss 2, Pp 277-291 (2022)

Zweier, Christiane; Kraus, Cornelia; Brueton, Louise; Cole, Trevor; Degenhardt, Franziska; Engels, Hartmut; Gillessen-Kaesbach, Gabriele; Graul-Neumann, Luitgard; Horn, Denise; Hoyer, Juliane; Just, Walter; Rauch, Anita; Reis, André; Wollnik, Bernd; Zeschnigk, Michael; Lüdecke, Hermann-Josef; Wieczorek, Dagmar

Journal of Medical Genetics. 50:838-847

Moey, Ching; Hinze, Susan J.; Brueton, Louise; Morton, Jenny; Mcmullan, Dominic J.; Kamien, Benjamin; Barnett, Christopher P.; BRUNETTI PIERRI, NICOLA; Nicholl, Jillian; Gecz, Jozef; Shoubridge, Cheryl

European Journal of Human Genetics. 24:373-380

Rice, Gillian I; Kasher, Paul R; Forte, Gabriella M A; Mannion, Niamh M; Greenwood, Sam M; Szynkiewicz, Marcin; Dickerson, Jonathan E; Bhaskar, Sanjeev S; Zampini, Massimiliano; Briggs, Tracy A; Jenkinson, Emma M; Bacino, Carlos A; Battini, Roberta; Bertini, Enrico; Brogan, Paul A; Brueton, Louise A; Carpanelli, Marialuisa; De Laet, Corinne; de Lonlay, Pascale; del Toro, Mireia; Desguerre, Isabelle; Fazzi, Elisa; Garcia-Cazorla, Angels; Heiberg, Arvid; Kawaguchi, Masakazu; Kumar, Ram; Lin, Jean-Pierre S-M; Lourenco, Charles M; Male, Alison M; Marques Jr, Wilson; Mignot, Cyril; Olivieri, Ivana; Orcesi, Simona; Prabhakar, Prab; Rasmussen, Magnhild; Robinson, Robert A; Rozenberg, Flore; Schmidt, Johanna L; Steindl, Katharina; Tan, Tiong Y; van der Merwe, William G; Vanderver, Adeline; Vassallo, Grace; Wakeling, Emma L; Wassmer, Evangeline; Whittaker, Elizabeth; Livingston, John H; Lebon, Pierre; Suzuki, Tamio; McLaughlin, Paul J; Keegan, Liam P; O'Connell, Mary A; Lovell, Simon C; Crow, Yanick J

Nature Genetics; Vol 44
Nature Genetics
Rice, G I, Kasher, P R, Forte, G M A, Mannion, N M, Greenwood, S M, Szynkiewicz, M, Dickerson, J E, Bhaskar, S S, Zampini, M, Briggs, T A, Jenkinson, E M, Bacino, C A, Battini, R, Bertini, E, Brogan, P A, Brueton, L A, Carpanelli, M, De Laet, C, De Lonlay, P, Del Toro, M, Desguerre, I, Fazzi, E, Garcia-Cazorla, À, Heiberg, A, Kawaguchi, M, Kumar, R, Lin, J P S M, Lourenco, C M, Male, A M, Marques, W, Mignot, C, Olivieri, I, Orcesi, S, Prabhakar, P, Rasmussen, M, Robinson, R A, Rozenberg, F, Schmidt, J L, Steindl, K, Tan, T Y, Van Der Merwe, W G, Vanderver, A, Vassallo, G, Wakeling, E L, Wassmer, E, Whittaker, E, Livingston, J H, Lebon, P, Suzuki, T, McLaughlin, P J, Keegan, L P, O'Connell, M A, Lovell, S C & Crow, Y J 2012, 'Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type i interferon signature', Nature Genetics, vol. 44, no. 11, pp. 1243-1248. https://doi.org/10.1038/ng.2414

Nieminen, Pekka; Morgan, Neil V; Fenwick, Aimée L; Parmanen, Satu; Veistinen, Lotta; Mikkola, Marja L; van der Spek, Peter J; Giraud, Andrew; Judd, Louise; Arte, Sirpa; Brueton, Louise A; Wall, Steven A; Mathijssen, Irene M J; Maher, Eamonn R; Wilkie, Andrew O M; Kreiborg, Sven; Thesleff, Irma

The American Journal of Human Genetics. 89:67-81

Rice, Gillian; Patrick, Teresa; Parmar, Rekha; Taylor, Claire F.; Aeby, Alec; Aicardi, Jean; Artuch, Rafael; Montalto, Simon Attard; Bacino, Carlos A.; Barroso, Bruno; Baxter, Peter; Benko, Willam S.; Bergmann, Carsten; Bertini, Enrico; Biancheri, Roberta; Blair, Edward M.; Blau, Nenad; Bonthron, David T.; Briggs, Tracy; Brueton, Louise A.; Brunner, Han G.; Burke, Christopher J.; Carr, Ian M.; Carvalho, Daniel R.; Chandler, Kate E.; Christen, Hans-Jurgen; Corry, Peter C.; Cowan, Frances M.; Cox, Helen; D'Arrigo, Stefano; Dean, John; de Laet, Corinne; de Praeter, Claudine; Dery, Catherine; Ferrie, Colin D.; Flintoff, Kim; Frints, Suzanna G. M.; Garcia-Cazorla, Angels; Gener, Blanca; Goizet, Cyril; Goutieres, Francoise; Green, Andrew J.; Guet, Agnes; Hamel, Ben C. J.; Hayward, Bruce E.; Heiberg, Arvid; Hennekam, Raoul C.; Husson, Marie; Jackson, Andrew P.; Jayatunga, Rasieka; Jiang, Yong-Hui; Kant, Sarina G.; Kao, Amy; King, Mary D.; Kingston, Helen M.; Klepper, Joerg; van der Knaap, Marjo S.; Kornberg, Andrew J.; Kotzot, Dieter; Kratzer, Wilfried; Lacombe, Didier; Lagae, Lieven; Landrieu, Pierre Georges; Lanzi, Giovanni; Leitch, Andrea; Lim, Ming J.; Livingston, John H.; Lourenco, Charles M.; Lyall, E. G. Hermione; Lynch, Sally A.; Lyons, Michael J.; Marom, Daphna; McClure, John P.; McWilliam, Robert; Melancon, Serge B.; Mewasingh, Leena D.; Moutard, Marie-Laure; Nischal, Ken K.; Ostergaard, John R.; Prendiville, Julie; Rasmussen, Magnhild; Rogers, R. Curtis; Roland, Dominique; Rosser, Elisabeth M.; Rostasy, Kevin; Roubertie, Agathe; Sanchis, Amparo; Schiffmann, Raphael; Scholl-Burgi, Sabine; Seal, Sunita; Shalev, Stavit A.; Corcoles, C. Sierra; Sinha, Gyan P.; Soler, Doriette; Spiegel, Ronen; Stephenson, John B. P.; Tacke, Uta; Tan, Tiong Yang; Till, Marianne; Tolmie, John L.; Tomlin, Pam; Vagnarelli, Federica; Valente, Enza Maria; van Coster, Rudy N. A.; van der Aa, Nathalie; Vanderver, Adeline; Vles, Johannes S. H.; Voit, Thomas; Wassmer, Evangeline; Weschke, Bernhard; Whiteford, Margo L.; Willemsen, Michel A. A.; Zankl, Andreas; Zuberi, Sameer M.; Orcesi, Simona; Fazzi, Elisa; Lebon, Pierre; Crow, Yanick J.; Østergaard, John R.; Tiong, Yang Tan

AMERICAN JOURNAL OF HUMAN GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Rice, G, Patrick, T, Parmar, R, Taylor, C F, Aeby, A, Aicardi, J, Artuch, R, Montalto, S A, Bacino, C A, Barroso, B, Baxter, P, Benko, W S, Bergmann, C, Bertini, E, Biancheri, R, Blair, E M, Blau, N, Bonthron, D T, Briggs, T, Brueton, L A, Brunner, H G, Burke, C J, Carr, I M, Carvalho, D R, Chandler, K E, Christen, H J, Corry, P C, Cowan, F M, Cox, H, D'Arrigo, S, Dean, J, De Laet, C, De Praeter, C, Déry, C, Ferrie, C D, Flintoff, K, Frints, S G M, Garcia-Cazorla, A, Gener, B, Goizet, C, Goutières, F, Green, A J, Guët, A, Hamel, B C J, Hayward, B E, Heiberg, A, Hennekam, R C, Husson, M, Jackson, A P, Jayatunga, R, Jiang, Y H, Kant, S G, Kao, A, King, M D, Kingston, H M, Klepper, J, Van Der Knaap, M S, Kornberg, A J, Kotzot, D, Kratzer, W, Lacombe, D, Lagae, L, Landrieu, P G, Lanzi, G, Leitch, A, Lim, M J, Livingston, J H, Lourenco, C M, Lyall, E G H, Lynch, S A, Lyons, M J, Marom, D, McClure, J P, McWilliam, R, Melancon, S B, Mewasingh, L D, Moutard, M L, Nischal, K K, Østergaard, J R, Prendiville, J, Rasmussen, M, Rogers, R C, Roland, D, Rosser, E M, Rostasy, K, Roubertie, A, Sanchis, A, Schiffmann, R, Scholl-Bürgi, S, Seal, S, Shalev, S A, Corcoles, C S, Sinha, G P, Soler, D, Spiegel, R, Stephenson, J B P, Tacke, U, Tiong, Y T, Till, M, Tolmie, J L, Tomlin, P, Vagnarelli, F, Valente, E M, Van Coster, R N A, Van Der Aa, N, Vanderver, A, Vles, J S H, Voit, T, Wassmer, E, Weschke, B, Whiteford, M L, Willemsen, M A A, Zankl, A, Zuberi, S M, Orcesi, S, Fazzi, E, Lebon, P & Crow, Y J 2007, 'Clinical and molecular phenotype of Aicardi-Goutières syndrome', American journal of human genetics, vol. 81, no. 4, pp. 713-725. https://doi.org/10.1086/521373
American Journal of Human Genetics, 81, 4, pp. 713-25
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP
Rice, G, Patrick, T, Parmar, R, Taylor, C F, Aeby, A, Aicardi, J, Artuch, R, Montalto, S A, Bacino, C A, Barroso, B, Baxter, P, Benko, W S, Bergmann, C, Bertini, E, Biancheri, R, Blair, E M, Blau, N, Bonthron, D T, Briggs, T, Brueton, L A, Brunner, H G, Burke, C J, Carr, I M, Carvalho, D R, Chandler, K E, Christen, H-J, Corry, P C, Cowan, F M, Cox, H, D'Arrigo, S, Dean, J, De Laet, C, De Praeter, C, Dery, C, Ferrie, C D, Flintoff, K, Frints, S G M, Garcia-Cazorla, A, Gener, B, Goizet, C, Goutieres, F, Green, A J, Guet, A, Hamel, B C J, Hayward, B E, Heiberg, A, Hennekam, R C, Husson, M, Jackson, A P, Jayatunga, R, Jiang, Y-H, Kant, S G, Kao, A, King, M D, Kingston, H M, Klepper, J, van der Knaap, M S, Kornberg, A J, Kotzot, D, Kratzer, W, Lacombe, D, Lagae, L, Landrieu, P G, Lanzi, G, Leitch, A, Lim, M J, Livingston, J H, Lourenco, C M, Lyall, E G H, Lynch, S A, Lyons, M J, Marom, D, McClure, J P, McWilliam, R, Melancon, S B, Mewasingh, L D, Moutard, M-L, Nischal, K K, Ostergaard, J R, Prendiville, J, Rasmussen, M, Rogers, R C, Roland, D, Rosser, E M, Rostasy, K, Roubertie, A, Sanchis, A, Schiffmann, R, Scholl-Burgi, S, Seal, S, Shalev, S A, Corcoles, C S, Sinha, G P, Soler, D, Spiegel, R, Stephenson, J B P, Tacke, U, Tan, T Y, Till, M, Tolmie, J L, Tomlin, P, Vagnarelli, F, Valente, E M, Van Coster, R N A, Van der Aa, N, Vanderver, A, Vles, J S H, Voit, T, Wassmer, E, Weschke, B, Whiteford, M L, Willemsen, M A A, Zankl, A, Zuberi, S M, Orcesi, S, Fazzi, E, Lebon, P & Crow, Y J 2007, ' Clinical and molecular phenotype of Aicardi-Goutieres syndrome ', American Journal of Human Genetics, vol. 81, no. 4, pp. 713-25 . https://doi.org/10.1086/521373
Rice, G, Patrick, T, Parmar, R, Taylor, C F, Aeby, A, Aicardi, J, Artuch, R, Montalto, S A, Bacino, C A, Barroso, B, Baxter, P, Benko, W S, Bergmann, C, Bertini, E, Biancheri, R, Blair, E M, Blau, N, Bonthron, D T, Briggs, T, Brueton, L A, Brunner, H G, Burke, C J, Carr, I M, Carvalho, D R, Chandler, K E, Christen, H-J, Corry, P C, Cowan, F M, Cox, H, D'Arrigo, S, Dean, J, De Laet, C, De Praeter, C, Dery, C, Ferrie, C D, Flintoff, K, Frints, S G M, Garcia-Cazorla, A, Gener, B, Goizet, C, Goutieres, F, Green, A J, Guet, A, Hamel, B C J, Hayward, B E, Heiberg, A, Hennekam, R C, Husson, M, Jackson, A P, Jayatunga, R, Jiang, Y-H, Kant, S G, Kao, A, King, M D, Kingston, H M, Klepper, J, van der Knaap, M S, Kornberg, A J, Kotzot, D, Kratzer, W, Lacombe, D, Lagae, L, Landrieu, P G, Lanzi, G, Leitch, A, Lim, M J, Livingston, J H, Lourenco, C M, Lyall, E G H, Lynch, S A, Lyons, M J, Marom, D, McClure, J P, McWilliam, R, Melancon, S B, Mewasingh, L D, Moutard, M-L, Nischal, K K, Ostergaard, J R, Prendiville, J, Rasmussen, M, Rogers, R C, Roland, D, Rosser, E M, Rostasy, K, Roubertie, A, Sanchis, A, Schiffmann, R, Scholl-Burgi, S, Seal, S, Shalev, S A, Corcoles, C S, Sinha, G P, Soler, D, Spiegel, R, Stephenson, J B P, Tacke, U, Tan, T Y, Till, M, Tolmie, J L, Tomlin, P, Vagnarelli, F, Valente, E M, Van Coster, R N A, Van der Aa, N, Vanderver, A, Vles, J S H, Voit, T, Wassmer, E, Weschke, B, Whiteford, M L, Willemsen, M A A, Zankl, A, Zuberi, S M, Orcesi, S, Fazzi, E, Lebon, P, Crow, Y J, Østergaard, J R & Tiong, Y T 2007, 'Clinical and molecular phenotype of Aicardi-Goutieres syndrome.', American Journal of Human Genetics, vol. 81, no. 4, pp. 713-725. https://doi.org/10.1086/521373
Rice, G, Patrick, T, Parmar, R, Taylor, C F, Aeby, A, Aicardi, J, Artuch, R, Montalto, S A, Bacino, C A, Barroso, B, Baxter, P, Benko, W S, Bergmann, C, Bertini, E, Biancheri, R, Blair, E M, Blau, N, Bonthron, D T, Briggs, T, Brueton, L A, Brunner, H G, Burke, C J, Carr, I M, Carvalho, D R, Chandler, K E, Christen, H-J, Corry, P C, Cowan, F M, Cox, H, D'Arrigo, S, Dean, J, De Laet, C, De Praeter, C, Dery, C, Ferrie, C D, Flintoff, K, Frints, S G M, Garcia-Cazorla, A, Gener, B, Goizet, C, Goutieres, F, Green, A J, Guet, A, Hamel, B C J, Hayward, B E, Heiberg, A, Hennekam, R C, Husson, M, Jackson, A P, Jayatunga, R, Jiang, Y-H, Kant, S G, Kao, A, King, M D, Kingston, H M, Klepper, J, van der Knaap, M S, Kornberg, A J, Kotzot, D, Kratzer, W, Lacombe, D, Lagae, L, Landrieu, P G, Lanzi, G, Leitch, A, Lim, M J, Livingston, J H, Lourenco, C M, Lyall, E G H, Lynch, S A, Lyons, M J, Marom, D, McClure, J P, McWilliam, R, Melancon, S B, Mewasingh, L D, Moutard, M-L, Nischal, K K, Østergaard, J R, Prendiville, J, Rasmussen, M, Rogers, R C, Roland, D, Rosser, E M, Rostasy, K, Roubertie, A, Sanchis, A, Schiffmann, R, Scholl-Burgi, S, Seal, S, Shalev, S A, Corcoles, C S, Sinha, G P, Soler, D, Spiegel, R, Stephenson, J B P, Tacke, U, Tan, T Y, Till, M, Tolmie, J L, Tomlin, P, Vagnarelli, F, Valente, E M, Van Coster, R N A, Van der Aa, N, Vanderver, A, Vles, J S H, Voit, T, Wassmer, E, Weschke, B, Whiteford, M L, Willemsen, M A A, Zankl, A, Zuberi, S M, Orcesi, S, Fazzi, E, Lebon, P & Crow, Y J 2007, 'Clinical and molecular phenotype of Aicardi-Goutieres syndrome.', American Journal of Human Genetics, vol. 81, no. 4, pp. 713-25. https://doi.org/10.1086/521373

Vogel, Maartje J.; van Zon, Patrick; Brueton, Louise; Gijzen, Marleen; van Tuil, Marc; Cox, Philip; Schanze, Denny; Kariminejad, Ariana; Ghaderi-Sohi, Siavash; Blair, Edward; Zenker, Martin; Scambler, Peter J.; Ploos van Amstel, Hans Kristian; van Haelst, MM

Vogel, M J, van Zon, P, Brueton, L, Gijzen, M, van Tuil, M, Cox, P, Schanze, D, Kariminejad, A, Ghaderi-Sohi, S, Blair, E, Zenker, M, Scambler, P J, Ploos van Amstel, H K & van Haelst, MM 2012, 'Mutations in GRIP1 Cause Fraser Syndrome', Journal of Medical Genetics, pp. 303-6.

Fry, Andrew E; Fawcett, Katherine A; Zelnik, Nathanel; Yuan, Hongjie; Thompson, Belinda A N; Shemer-Meiri, Lilach; Cushion, Thomas D; Mugalaasi, Hood; Sims, David; Stoodley, Neil; Chung, Seo-Kyung; Rees, Mark I; Patel, Chirag V; Brueton, Louise A; Layet, Valérie; Giuliano, Fabienne; Kerr, Michael P; Banne, Ehud; Meiner, Vardiella; Lerman-Sagie, Tally; Helbig, Katherine L; Kofman, Laura H; Knight, Kristin M; Chen, Wenjuan; Kannan, Varun; Hu, Chun; Kusumoto, Hirofumi; Zhang, Jin; Swanger, Sharon A; Shaulsky, Gil H; Mirzaa, Ghayda M; Muir, Alison M; Mefford, Heather C; Dobyns, William B; Mackenzie, Amanda B; Mullins, Jonathan G L; Lemke, Johannes R; Bahi-Buisson, Nadia; Traynelis, Stephen F; Iago, Heledd F; Pilz, Daniela T

Brain. Mar 01, 2018 141(3):698-712

Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA ( host institution ); Talkowski, Michael E. ( author ); Mullegama, Sureni V. ( author ); Rosenfeld, Jill A. ( author ); van Bon, Bregje W.M. ( author ); Shen, Yiping ( author ); Repnikova, Elena A. ( author ); Gastier-Foster, Julie ( author ); Thrush, Devon Lamb ( author ); Kathiresan, Sekar ( author ); Ruderfer, Douglas M. ( author ); Chiang, Colby ( author ); Hanscom, Carrie ( author ); Ernst, Carl ( author ); Lindgren, Amelia M. ( author ); Morton, Cynthia C. ( author ); An, Yu ( author ); Astbury, Caroline ( author ); Brueton, Louise A. ( author ); Lichtenbelt, Klaske D. ( author ); Ades, Lesley C. ( author ); Fichera, Marco ( author ); Romano, Corrado ( author ); Innis, Jeffrey W. ( author ); Williams, Charles A. ( author ); Bartholomew, Dennis ( author ); Van Allen, Margot I. ( author ); Parikh, Aditi ( author ); Zhang, Lilei ( author ); Wu, Bai-Lin ( author ); Pyatt, Robert E. ( author ); Schwartz, Stuart ( author ); Shaffer, Lisa G. ( author ); de Vries, Bert B.A. ( author ); Gusella, James F. ( author ); Elsea, Sarah H. ( author )

American Journal of Human Genetics, 89, 4, pp. 551-63
Talkowski, M E, Mullegama, S V, Rosenfeld, J A, van Bon, B W M, Shen, Y, Repnikova, E A, Gastier-Foster, J, Thrush, D L, Kathiresan, S, Ruderfer, D M, Chiang, C, Hanscom, C, Ernst, C, Lindgren, A M, Morton, C C, An, Y, Astbury, C, Brueton, L A, Lichtenbelt, K D, Ades, L C, Fichera, M, Romano, C, Innis, J W, Williams, C A, Bartholomew, D, Van Allen, M I, Parikh, A, Zhang, L, Wu, B-L, Pyatt, R E, Schwartz, S, Shaffer, L G, de Vries, B B A, Gusella, J F & Elsea, S H 2011, 'Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.', American Journal of Human Genetics, vol. 89, no. 4. https://doi.org/10.1016/j.ajhg.2011.09.011

Luo, Rong, PhD; Yang, Hye Min, BS; Jin, Zhaohui, MD; Halley, Dicky J.J., MD; Chang, Bernard S., MD; MacPherson, Lesley, MD; Brueton, Louise, MD; Piao, Xianhua, MD PhD

Pediatric Neurology. 45(1):49-53

Namavar, Yasmin; Barth, Peter G; Kasher, Paul R; van Ruissen, Fred; Brockmann, Knut; Bernert, Günther; Writzl, Karin; Ventura, Karen; Cheng, Edith Y; Ferriero, Donna M; Basel-Vanagaite, Lina; Eggens, Veerle R C; Krägeloh-Mann, Ingeborg; De Meirleir, Linda; King, Mary; Graham, John M; von Moers, Arpad; Knoers, Nine; Sztriha, Laszlo; Korinthenberg, Rudolf; Dobyns, William B; Baas, Frank; Poll-The, Bwee Tien; Van der Aa, Nathalie; Arts, Willem F M; Ades, Lesley C; Bahi-Buisson, Nadia; Battini, Roberta; Bodamer, Olaf; Boltshauser, Eugen; Boycott, Kym; Brueton, Louise; Brussel, Wim; Chandler, K E; Cowan, Frances M; Crow, Yanick; Debus, Otfried; Demir, Ercan; Hastanesi, Gazi; Eason, Jacqueline; Ferrie, Colin D; Fisher, Richard B; Foulds, Nicola; Freeman, Jeremy L; Gooskens, Rob; Haeussler, Martin; Hageman, Gerard; Hammersen, Gerhard; Horn, Denise; Isidor, Bertrand; van der Knaap, Marjo S; Kress, Wolfram; Kroisel, Peter M; Kyllerman, Mårten; Lachmeijer, A M A; Lunsing, Roelineke J; McGillivray, George; Möllmann, Susanne; Muntoni, Francesco; Nemeth, Andrea H; Neufeld-Kaiser, Whitney; van Nieuwenhuizen, Onno; Ouvrier, Robert; Pálmafy, Beatrix; Peeters, E A J; Phillips, Joanna J; Price, Susan; Rankin, Julia; Régal, Luc; de Rijk-van Andel, J F; Roelens, Filip; Rutledge, Joe C; Ryan, Monique M; Seidl, Rainer; Sellerer, Nina C; Shannon, Nora L; Sival, Deborah A; Snoeck, I N; Straussberg, Rachel; Tijssen, Marina A J; Verloo, Patrick; de Vries, L S; Wargowski, David; Williams, Andrew N; Windpassinger, Christian

Namavar, Y, Barth, P G, Kasher, P R, van Ruissen, F, Brockmann, K, Bernert, G, Writzl, K, Ventura, K, Cheng, E Y, Ferriero, D M, Basel-Vanagaite, L, Eggens, V R, Krägeloh-Mann, I, De Meirleir, L, King, M, Graham Jr., J M, von Moers, A, Knoers, N, Sztriha, L, Korinthenberg, R, van der Knaap, M S, Dobyns, W B, Baas, F & Poll-The, B T 2011, 'Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia', Brain, vol. 134, pp. 143-156. https://doi.org/10.1093/brain/awq287
Namavar, Y, Barth, P G, Kasher, P R, van Ruissen, F, Brockmann, K, Bernert, G, Writzl, K, Ventura, K, Cheng, E Y, Ferriero, D M, Basel-Vanagaite, L, Eggens, V R C, Krägeloh-Mann, I, De Meirleir, L, King, M, Graham, J M, von Moers, A, Knoers, N, Sztriha, L, Korinthenberg, R, Dobyns, W B, Baas, F, Poll-The, B T, Van der Aa, N, Arts, W F M, Ades, L C, Bahi-Buisson, N, Battini, R, Bodamer, O, Boltshauser, E, Boycott, K, Brueton, L, Brussel, W, Chandler, K E, Cowan, F M, Crow, Y, Debus, O, Demir, E, Hastanesi, G, Eason, J, Ferrie, C D, Fisher, R B, Foulds, N, Freeman, J L, Gooskens, R, Haeussler, M, Hageman, G, Hammersen, G, Horn, D, Isidor, B, van der Knaap, M S, Kress, W, Kroisel, P M, Kyllerman, M, Lachmeijer, A M A, Lunsing, R J, McGillivray, G, Möllmann, S, Muntoni, F, Nemeth, A H, Neufeld-Kaiser, W, van Nieuwenhuizen, O, Ouvrier, R, Pálmafy, B, Peeters, E A J, Phillips, J J, Price, S, Rankin, J, Régal, L, de Rijk-van Andel, J F, Roelens, F, Rutledge, J C, Ryan, M M, Seidl, R, Sellerer, N C, Shannon, N L, Sival, D A, Snoeck, I N, Straussberg, R, Tijssen, M A J, Verloo, P, de Vries, L S, Wargowski, D, Williams, A N & Windpassinger, C 2011, 'Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.', Brain : a journal of neurology, vol. 134, no. Pt 1. https://doi.org/10.1093/brain/awq287

Geranmayeh, Fatemeh; Clement, Emma; Feng, Lucy H; Sewry, Caroline; Pagan, Judith; Mein, Rachael; Abbs, Stephen; Brueton, Louise; Childs, Anne-Marie; Jungbluth, Heinz; De Goede, Christian G; Lynch, Bryan; Lin, Jean-Pierre; Chow, Gabriel; Sousa, Carlos de; O’Mahony, Olivia; Majumdar, Anirban; Straub, Volker; Bushby, Katherine; Muntoni, Francesco

Neuromuscular Disorders. 20(4):241-250

Van der Aa, Nathalie; Rooms, Liesbeth; Vandeweyer, Geert; van den Ende, Jenneke; Reyniers, Edwin; Fichera, Marco; Romano, Corrado; Delle Chiaie, Barbara; Mortier, Geert; Menten, Björn; Destrée, Anne; Maystadt, Isabelle; Männik, Katrin; Kurg, Ants; Reimand, Tiia; McMullan, Dom; Oley, Christine; Brueton, Louise; Bongers, Ernie M.H.F.; van Bon, Bregje W.M.; Pfund, Rolph; Jacquemont, Sebastien; Ferrarini, Alessandra; Martinet, Danielle; Schrander-Stumpel, Connie; Stegmann, Alexander P.A.; Frints, Suzanna G.M.; de Vries, Bert B.A.; Ceulemans, Berten; Kooy, R. Frank

European Journal of Medical Genetics. 52(2):94-100

Laugel, Vincent; Dalloz, Cécile; Durand, M.; Sauvanaud, Florence; Kristensen, Hans-Ulrik; Vincent, Marie-Claire; Pasquier, Laurent; Odent, Sylvie; Cormier-Daire, Valérie; Gener, Blanca; Tobias, Edward Spencer; Tolmie, John Lorimer; Martin-Coignard, Dominique; Drouin-Garraud, Valérie; Heron, Delphine; Journel, Hubert; Raffo, Emmanuel; Vigneron, Jaqueline; Lyonnet, Stanislas; Murday, Victoria Alice; Gubser-Mercati, Danielle; Funalot, Benoît; Brueton, Louise; Sanchez del Pozo, Jaime; Muñoz, E.; Gennery, Andrew; Salih, M.; Noruzinia, Mehrdad; Prescott, K.; Ramos, L.; Stark, Zornitza; Fieggen, Karen; Chabrol, Brigitte; Sarda, Pierre; Edery, Patrick; Bloch-Zupan, Agnès; Fawcett, H.; Pham, Danièle; Egly, Jean-Marc; Lehmann, Alan; Sarasin, Alain; Dollfus, Hélène

Human Mutation. 31:113-126

Thomas, Ellen; Walker, Lisa J.; Pullaperuma, Sunil; Cooper, Beatrice; Brueton, Louise A.; Basile, G. D S; Suri, Mohnish; Brady, Angela F.

Clinical Dysmorphology. 18:145-148

Bowdin, Sarah; Allen, Cathy; Kirby, Gail; Brueton, Louise; Afnan, Masoud; Barratt, Christopher; Kirkman-Brown, Jackson; Harrison, Robert; Maher, Eamonn R; Reardon, William

Human Reproduction. 22:3237-3240

Sidwell, Rachel U, MBChB, MRCP, MRCPCH, DA; Brueton, Louise A, MD, FRCP; Grabczynska, Sophie A, MBBS, MRCP; Francis, Nick, MBBS, MRCP; Staughton, Robert C.D

Journal of the American Academy of Dermatology. 50(2):53-56

Cox, Phillip M.; Brueton, Louise A.; Bjelogrlic, Predrag; Pomroy, Penelope; Sewry, Caroline A.

Pediatric and Developmental Pathology. Jan, 2003, Vol. 6 Issue 1, p59, 10 p.