부산대학교 도서관

Whitworth, J; Smith, PS; Martin, J-E; West, H; Luchetti, A; Rodger, F; Clark, G; Carss, K; Stephens, J; Stirrups, K; Penkett, C; Mapeta, R; Ashford, S; Megy, K; Shakeel, H; Ahmed, M; Adlard, J; Barwell, J; Brewer, C; Casey, RT; Armstrong, R; Cole, T; Evans, DG; Fostira, F; Greenhalgh, L; Hanson, H; Henderson, A; Hoffman, J; Izatt, L; Kumar, A; Kwong, A; Lalloo, F; Ong, KR; Paterson, J; Park, S-M; Chen-Shtoyerman, R; Searle, C; Side, L; Skytte, A-B; Snape, K; Woodward, ER; Tischkowitz, MD; Maher, ER; Aitman, T; Alachkar, H; Ali, S; Allen, L; Allsup, D; Ambegaonkar, G; Anderson, J; Antrobus, R; Arno, G; Arumugakani, G; Astle, W; Attwood, A; Austin, S; Bacchelli, C; Bakchoul, T; Bariana, TK; Baxendale, H; Bennett, D; Bethune, C; Bibi, S; Bitner-Glindzicz, M; Bleda, M; Boggard, H; Bolton-Maggs, P; Booth, C; Bradley, JR; Brady, A; Brown, M; Browning, M; Bryson, C; Burns, S; Calleja, P; Canham, N; Carmichael, J; Caulfield, M; Chalmers, E; Chandra, A; Chinnery, P; Chitre, M; Church, C; Clement, E; Clements-Brod, N; Clowes, V; Coghlan, G; Collins, P; Cookson, V; Cooper, N; Corris, P; Creaser-Myers, A; Dacosta, R; Daugherty, L; Davies, S; Davis, J; De Vries, M; Deegan, P; Deevi, SVV; Deshpande, C; Devlin, L; Dewhurst, E; Dixon, P; Doffinger, R; Dormand, N; Drewe, E; Edgar, D; Egner, W; Erber, WN; Erwood, M; Everington, T; Favier, R; Firth, H; Fletcher, D; Flinter, F; Frary, A; Freson, K; Furie, B; Furnell, A; Gale, D; Gardham, A; Gattens, M; Ghali, N; Ghataorhe, PK; Ghurye, R; Gibbs, S; Gilmour, K; Gissen, P; Goddard, S; Gomez, K; Gordins, P; Graf, S; Gräf, S; Greene, D; Greenhalgh, A; Greinacher, A; Grigoriadou, S; Grozeva, D; Hackett, S; Hadinnapola, C; Hague, R; Haimel, M; Halmagyi, C; Hammerton, T; Hart, D; Hayman, G; Heemskerk, JWM; Henderson, R; Hensiek, A; Henskens, Y; Herwadkar, A; Holden, S; Holder, M; Holder, S; Hu, F; Veld, A; Huissoon, A; Humbert, M; Hurst, J; James, R; Jolles, S; Josifova, D; Kazmi, R; Keeling, D; Kelleher, P; Kelly, AM; Kennedy, F; Kiely, D; Kingston, N; Koziell, A; Krishnakumar, D; Kuijpers, TW; Kuijpers, T; Kumararatne, D; Kurian, M; Laffan, MA; Lambert, MP; Allen, HL; Lango-Allen, H; Lawrie, A; Lear, S; Lees, M; Lentaigne, C; Liesner, R; Linger, R; Longhurst, H; Lorenzo, L; Louka, E; Machado, R; Ross, RM; Maclaren, R; Maher, E; Maimaris, J; Mangles, S; Manson, A; Markus, HS; Martin, J; Masati, L; Mathias, M; Matser, V; Maw, A; McDermott, E; McJannet, C; Meacham, S; Meehan, S; Mehta, S; Michaelides, M; Millar, CM; Moledina, S; Moore, A; Morrell, N; Mumford, A; Murng, S; Murphy, E; Nejentsev, S; Noorani, S; Nurden, P; Oksenhendler, E; Othman, S; Ouwehand, WH; Papadia, S; Parker, A; Pasi, J; Patch, C; Payne, J; Peacock, A; Peerlinck, K; Penkett, CJ; Pepke-Zaba, J; Perry, D; Perry, DJ; Pollock, V; Polwarth, G; Ponsford, M; Qasim, W; Quinti, I; Rankin, S; Rankin, J; Raymond, FL; Rayner-Matthews, P; Rehnstrom, K; Reid, E; Rhodes, CJ; Richards, M; Richardson, S; Richter, A; Roberts, I; Rondina, M; Rosser, E; Roughley, C; Roy, N; Rue-Albrecht, K; Samarghitean, C; Sanchis-Juan, A; Sandford, R; Santra, S; Sargur, R; Savic, S; Schotte, G; Schulman, S; Schulze, H; Scott, R; Scully, M; Seneviratne, S; Sewell, C; Shamardina, O; Shipley, D; Simeoni, I; Sivapalaratnam, S; Smith, KGC; Sohal, A; Southgate, L; Staines, S; Staples, E; Stark, H; Stauss, H; Stein, P; Stock, S; Suntharalingam, J; Talks, K; Tan, Y; Thachil, J; Thaventhiran, J; Thomas, E; Thomas, M; Thompson, D; Thrasher, A; Tischkowitz, M; Titterton, C; Toh, C-H; Toshner, M; Treacy, C; Trembath, R; Tuna, S; Turek, W; Turro, E; Van Geet, C; Veltman, M; Vogt, J; Von Ziegenweldt, J; Noordegraaf, AV; Wakeling, E; Wanjiku, I; Warner, TQ; Wassmer, E; Watkins, H; Watt, C; Webster, N; Welch, S; Westbury, S; Wharton, J; Whitehorn, D; Wilkins, M; Willcocks, L; Williamson, C; Woods, G; Wort, J; Yeatman, N; Yong, P; Young, T; Yu, P

Am J Hum Genet
AMERICAN JOURNAL OF HUMAN GENETICS
NIHR BioResource Rare Diseases Consortium 2018, 'Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes', American journal of human genetics, vol. 103, no. 1, pp. 3-18. https://doi.org/10.1016/j.ajhg.2018.04.013
Whitworth, J, Smith, P S, Martin, J-E, West, H, Luchetti, A, Rodger, F, Clark, G, Carss, K, Stephens, J, Stirrups, K, Penkett, C, Mapeta, R, Ashford, S, Megy, K, Shakeel, H, Ahmed, M, Adlard, J, Barwell, J, Brewer, C, Casey, R T, Armstrong, R, Cole, T, Evans, D G, Fostira, F, Greenhalgh, L, Hanson, H, Henderson, A, Hoffman, J, Izatt, L, Kumar, A, Kwong, A, Lalloo, F, Ong, K R, Paterson, J, Park, S-M, Chen-Shtoyerman, R, Searle, C, Side, L, Skytte, A-B, Snape, K, Woodward, E R & NIHR BioResource Rare Diseases Consortium 2018, 'Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes', American Journal of Human Genetics, vol. 103, no. 1, pp. 3-18. https://doi.org/10.1016/j.ajhg.2018.04.013
2018, 'Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes', American Journal of Human Genetics, vol. 103, no. 1, pp. 3-18. https://doi.org/10.1016/j.ajhg.2018.04.013
2018, ' Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes ', American Journal of Human Genetics, vol. 103, no. 1, pp. 3-18 . https://doi.org/10.1016/j.ajhg.2018.04.013
NIHR BioResource Rare Diseases Consortium & Evans, D G 2018, 'Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes', Cell, vol. 103, no. 1. https://doi.org/10.1016/j.ajhg.2018.04.013
American Journal of Human Genetics

Jonikas, M; Madill, M; Mathy, A; Zekoll, T; Zois, C; Wigfield, S; Kurzawa-Akanbi, M; Browne, C; Sims, D; Chinnery, P; Cowley, S; Tofaris, G

Ann Neurol

Ng, YS; Martikainen, M; Gorman, G; Blain, A; Bugiardini, E; Bunting, A; Schaefer, A; Alston, CL; Blakely, EL; Hughes, I; Lim, A; Degoede, C; McEntagart, M; Spinty, S; Horrocks, I; Chinnery, P; Horvath, R; Nesbitt, V; Fratter, C; Poulton, J; Hanna, M; Pitceathly, R; Taylor, RW; Turnbull, D; McFarland, R

Keogh, M; Wei, W; Aryaman, J; Wilson, I; Talbot, K; Turner, M; McKenzie, C; Troakes, C; Attems, J; Smith, C; Al Sarraj, S; Morris, C; Ansorge, O; Pickering-Brown, S; Jones, N; Ironside, J; Chinnery, P

J Neurol Neurosurg Psychiatry
Keogh, M J, Wei, W, Aryaman, J, Wilson, I, Talbot, K, Turner, M R, McKenzie, C-A, Troakes, C, Attems, J, Smith, C, Al-Sarraj, S, Morris, C M, Ansorge, O, Pickering-Brown, S, Jones, N, Ironside, J W & Chinnery, P F 2018, ' Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains ', Journal of Neurology, Neurosurgery & Psychiatry . https://doi.org/10.1136/jnnp-2017-317234
Keogh, M J, Wei, W, Aryaman, J, Wilson, I, Talbot, K, Turner, M R, Mckenzie, C, Troakes, C, Attems, J, Smith, C, Al Sarraj, S, Morris, C M, Ansorge, O, Pickering-brown, S, Jones, N, Ironside, J W & Chinnery, P F 2018, 'Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains', Journal of Neurology, Neurosurgery & Psychiatry, vol. 89, no. 8, pp. 813-816. https://doi.org/10.1136/jnnp-2017-317234

Atalaia, A; Ferrer, C Hernandez; Corvó, A; Matalonga, L; Thompson, R; Carmody, L; Piscia, D; Macaya, A; Lochmuller, A; Manta, A; Fontaine, B; Vicart, S; Desaphy, Jf; Altamura, C; Wahbi, K; de Sandre-Giovannoli, Annachiara; Vigouroux, C; Zurek, B; Rheinard, C; Andrés, D Gómez; Schon, K; Over, L; Brüggemann, N; Lohmann, K; Jennings, Mj; Synofzik, M; Riess, O; Yaou, R Ben; Evangelista, T; Ratnaike, T; Facer, V Bros; Gumus, G; Horvath, R; Chinnery, P; Laurie, S; Graessner, H; Robinson, P; Lochmuller, H; Beltran, S; Bonne, Gisèle

Olsen RKJ; Konarikova E; Giancaspero TA; Mosegaard S; Boczonadi V; Matakovic L; Veauville Merllie A; Terrile C; Schwarzmayr T; Haack TB; Auranen M; Leone P; GALLUCCIO, Michele; Imbard A; Gutierrez Rios P; Palmfeldt J; Graf E; Vianey Saban C; Oppenheim M; Schiff M; Pichard S; Rigal O; Pyle A; Chinnery PF; Konstantopoulou V; Moslinger D; Feichtinger RG; Talim B; Topaloglu H; Coskun T; Gucer S; Botta A; Pegoraro E; Malena A; Vergani L; Mazza D; Zollino M; Ghezzi D; Acquaviva C; Tyni T; Boneh A; Meitinger T; Strom TM; Gregersen N; Mayr JA; Horvath R; Barile M; Prokisch H.

Am J Hum Genet
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
instname
Am. J. Hum. Genet. 98, 1130-1145 (2016)
Olsen, R K J, Koňaříková, E, Giancaspero, T A, Mosegaard, S, Boczonadi, V, Mataković, L, Veauville-Merllié, A, Terrile, C, Schwarzmayr, T, Haack, T B, Auranen, M, Leone, P, Galluccio, M, Imbard, A, Gutierrez-Rios, P, Palmfeldt, J, Graf, E, Vianey-Saban, C, Oppenheim, M, Schiff, M, Pichard, S, Rigal, O, Pyle, A, Chinnery, P F, Konstantopoulou, V, Möslinger, D, Feichtinger, R G, Talim, B, Topaloglu, H, Coskun, T, Gucer, S, Botta, A, Pegoraro, E, Malena, A, Vergani, L, Mazzà, D, Zollino, M, Ghezzi, D, Acquaviva, C, Tyni, T, Boneh, A, Meitinger, T, Strom, T M, Gregersen, N, Mayr, J A, Horvath, R, Barile, M & Prokisch, H 2016, 'Riboflavin-Responsive and-Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency', American Journal of Human Genetics, vol. 98, no. 6, pp. 1130-45. https://doi.org/10.1016/j.ajhg.2016.04.006
American Journal of Human Genetics

CHILDS, A M; LOGAN, C; MUNTONI, F; SZABADKAI, G; DUCHEN, M; PHADKE, R; SEWRY, C; PYSDEN, K; ROPER, H; CHOW, G; NIKS, E; KRIEK, M; LEWIS-SMITH, D; CHINNERY, P; SHERIDAN, E

Developmental Medicine & Child Neurology. Jan 01, 2015 57 Suppl 1:2-2

Arno, G; Carss, KJ; Hull, S; Zihni, C; Robson, AG; Fiorentino, A; Hardcastle, AJ; Holder, GE; Cheetham, ME; Plagnol, V; Moore, AT; Raymond, FL; Matter, K; Balda, MS; Webster, AR; Black, G; Hall, G; Ingram, S; Gillespie, R; Manson, F; Sergouniotis, P; Inglehearn, C; Toomes, C; Ali, M; McKibbin, M; Poulter, J; Khan, K; Lord, E; Nemeth, A; Downes, S; Halford, S; Yu, J; Lise, S; Ponitkos, N; Michaelides, M; van Heyningen, V; Aitman, T; Alachkar, H; Ali, S; Allen, L; Allsup, D; Ambegaonkar, G; Anderson, J; Antrobus, R; Armstrong, R; Arumugakani, G; Ashford, S; Astle, W; Attwood, A; Austin, S; Bacchelli, C; Bakchoul, T; Bariana, TK; Baxendale, H; Bennett, D; Bethune, C; Bibi, S; Bitner-Glindzicz, M; Bleda, M; Boggard, H; Bolton-Maggs, P; Booth, C; Bradley, JR; Brady, A; Brown, M; Browning, M; Bryson, C; Burns, S; Calleja, P; Canham, N; Carmichael, J; Carss, K; Caulfield, M; Chalmers, E; Chandra, A; Chinnery, P; Chitre, M; Church, C; Clement, E; Clements-Brod, N; Clowes, V; Coghlan, G; Collins, P; Cooper, N; Creaser-Myers, A; DaCosta, R; Daugherty, L; Davies, S; Davis, J; De Vries, M; Deegan, P; Deevi, SVV; Deshpande, C; Devlin, L; Dewhurst, E; Doffinger, R; Dormand, N; Drewe, E; Edgar, D; Egner, W; Erber, WN; Erwood, M; Everington, T; Favier, R; Firth, H; Fletcher, D; Flinter, F; Fox, JC; Frary, A; Freson, K; Furie, B; Furnell, A; Gale, D; Gardham, A; Gattens, M; Ghali, N; Ghataorhe, PK; Ghurye, R; Gibbs, S; Gilmour, K; Gissen, P; Goddard, S; Gomez, K; Gordins, P; Gräf, S; Greene, D; Greenhalgh, A; Greinacher, A; Grigoriadou, S; Grozeva, D; Hackett, S; Hadinnapola, C; Hague, R; Haimel, M; Halmagyi, C; Hammerton, T; Hart, D; Hayman, G; Heemskerk, JWM; Henderson, R; Hensiek, A; Henskens, Y; Herwadkar, A; Holden, S; Holder, M; Holder, S; Hu, F; Huissoon, A; Humbert, M; Hurst, J; James, R; Jolles, S; Josifova, D; Kazmi, R; Keeling, D; Kelleher, P; Kelly, AM; Kennedy, F; Kiely, D; Kingston, N; Koziell, A; Krishnakumar, D; Kuijpers, TW; Kumararatne, D; Kurian, M; Laffan, MA; Lambert, MP; Allen, HL; Lawrie, A; Lear, S; Lees, M; Lentaigne, C; Liesner, R; Linger, R; Longhurst, H; Lorenzo, L; Machado, R; Mackenzie, R; MacLaren, R; Maher, E; Maimaris, J; Mangles, S; Manson, A; Mapeta, R; Markus, HS; Martin, J; Masati, L; Mathias, M; Matser, V; Maw, A; McDermott, E; McJannet, C; Meacham, S; Meehan, S; Megy, K; Mehta, S; Millar, CM; Moledina, S; Moore, A; Morrell, N; Mumford, A; Murng, S; Murphy, E; Nejentsev, S; Noorani, S; Nurden, P; Oksenhendler, E; Ouwehand, WH; Papadia, S; Park, S-M; Parker, A; Pasi, J; Patch, C; Paterson, J; Payne, J; Peacock, A; Peerlinck, K; Penkett, CJ; Pepke-Zaba, J; Perry, DJ; Pollock, V; Polwarth, G; Ponsford, M; Qasim, W; Quinti, I; Rankin, S; Rankin, J; Rehnstrom, K; Reid, E; Rhodes, CJ; Richards, M; Richardson, S; Richter, A; Roberts, I; Rondina, M; Rosser, E; Roughley, C; Rue-Albrecht, K; Samarghitean, C; Sanchis-Juan, A; Sandford, R; Santra, S; Sargur, R; Savic, S; Schulman, S; Schulze, H; Scott, R; Scully, M; Seneviratne, S; Sewell, C; Shamardina, O; Shipley, D; Simeoni, I; Sivapalaratnam, S; Smith, K; Sohal, A; Southgate, L; Staines, S; Staples, E; Stauss, H; Stein, P; Stephens, J; Stirrups, K; Stock, S; Suntharalingam, J; Tait, RC; Talks, K; Tan, Y; Thachil, J; Thaventhiran, J; Thomas, E; Thomas, M; Thompson, D; Thrasher, A; Tischkowitz, M; Titterton, C; Toh, C-H; Toshner, M; Treacy, C; Trembath, R; Tuna, S; Turek, W; Turro, E; Van Geet, C; Veltman, M; Vogt, J; von Ziegenweldt, J; Noordegraaf, AV; Wakeling, E; Wanjiku, I; Warner, TQ; Wassmer, E; Watkins, H; Webster, A; Welch, S; Westbury, S; Wharton, J; Whitehorn, D; Wilkins, M; Willcocks, L; Williamson, C; Woods, G; Wort, J; Yeatman, N; Yong, P; Young, T; Yu, P

UK Inherited Retinal Disease Consortium, NIHR BioResource Rare Diseases Consortium, NIHR BioResource Rare Diseases Consortium & NIHR Bioresource – Rare Diseases Consortium 2017, 'Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration', American journal of human genetics, vol. 100, no. 2, pp. 334-342. https://doi.org/10.1016/j.ajhg.2016.12.014
Arno, G, Carss, K J, Hull, S, Zihni, C, Robson, A G, Fiorentino, A, Hardcastle, A J, Holder, G E, Cheetham, M E, Plagnol, V, Moore, A T, Raymond, F L, Matter, K, Balda, M S, Webster, A R, Uk Inherited Retinal Disease Consortium & Black, G 2017, 'Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration', American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2016.12.014

Atalaia, A; Thompson, R; Corvo, A; Carmody, L; Piscia, D; Matalonga, L; Macaya, A; Lochmuller, A; Fontaine, B; Zurek, B; Hernandez-Ferrer, C; Rheinard, C; Gómez-Andrés, D; Schon, K; Lohmann, K; Jennings, M; Riess, O; Ben Yaou, R; Evangelista, T; Ratnaike, T; Bros-Facer, V; Gumus, G; Horvath, R; Chinnery, P; Laurie, S; Graessner, H; Robinson, P; Lochmuller, H; Beltran, S; Bonne, Gisèle

PEALL, K J; WAITE, A J; KURIAN, M A; HEDDERLY, T; SMITH, M A; LIN, J P; KING, M D; WARNER, T T; PALL, H; CHINNERY, P; WHONE, A; WHITE, C; OWEN, M J; BLAKE, D J; MORRIS, H R

Developmental Medicine & Child Neurology. Jan 01, 2012 54 Suppl 1:77-78

Wolny, S; McFarland, R; Chinnery, P; Cheetham, T

Acta Paediatrica. Mar 01, 2009 98(3):553-554

Fuhrmann, N; Alavi, M V; Bitoun, P; Woernle, S; Auburger, G; Leo-Kottler, B; Yu-Wai-Man, P; Chinnery, P; Wissinger, B

Journal of Medical Genetics. Feb 01, 2009 46(2):136-144

Keogh, M; Wei, W; Aryaman, J; Walker, L; Van den Ameele, J; Coxhead, J; Wilson, I; Bashton, M; Beck, J; West, J; Chen, R; Haudenschild, C; Bartha, G; Luo, S; Morris, C; Jones, N; Attems, J; Chinnery, P

Nat Commun
Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)

Ito, Y; Carss, KJ; Duarte, ST; Hartley, T; Keren, B; Kurian, MA; Marey, I; Charles, P; Mendonça, C; Nava, C; Pfundt, R; Sanchis-Juan, A; van Bokhoven, H; van Essen, A; van Ravenswaaij-Arts, C; Aitman, T; Bennett, D; Caulfield, M; Chinnery, P; Gale, D; Koziell, A; Kuijpers, TW; Laffan, MA; Maher, E; Markus, HS; Morrell, NW; Ouwehand, WH; Perry, DJ; Raymond, FL; Roberts, I; Smith, KGC; Thrasher, A; Watkins, H; Williamson, C; Woods, G; Ashford, S; Bradley, JR; Fletcher, D; Hammerton, T; James, R; Kingston, N; Penkett, CJ; Stirrups, K; Veltman, M; Young, T; Brown, M; Clements-Brod, N; Davis, J; Dewhurst, E; Dolling, H; Erwood, M; Frary, A; Linger, R; Martin, JM; Papadia, S; Rehnstrom, K; Stark, H; Allsup, D; Austin, S; Bakchoul, T; Bariana, TK; Bolton-Maggs, P; Chalmers, E; Collins, J; Collins, P; Erber, WN; Everington, T; Favier, R; Freson, K; Furie, B; Gattens, M; Gebhart, J; Gomez, K; Greene, D; Greinacher, A; Gresele, P; Hart, D; Heemskerk, JWM; Henskens, Y; Kazmi, R; Keeling, D; Kelly, AM; Lambert, MP; Lentaigne, C; Liesner, R; Makris, M; Mangles, S; Mathias, M; Millar, CM; Mumford, A; Nurden, P; Payne, J; Pasi, J; Peerlinck, K; Revel-Vilk, S

Kmoch S; First Faculty of Medicine, Institute for Inherited Metabolic Disorders, Charles University in Prague, 120 00 Prague 2, Czech Republic.; Majewski J; Faculty of Medicine, Department of Human Genetics, McGill University and Genome Quebec Innovation Center, Montreal, Quebec, Canada H3A 0G1.; Ramamurthy V; Cellular Neurobiology Research Unit, Institut de recherches cliniques de Montréal (IRCM), 110, Ave des Pins Ouest, Montreal, Quebec, Canada H2W 1R7.; Cao S; 1] McGill University, 845 Sherbrooke Street West, Montreal, Quebec, Canada H3A 0G4 [2] McGill Ocular Genetics Laboratory; Departments of Paediatric Surgery, Human Genetics and Ophthalmology, Montreal Children's Hospital, McGill University Health Centre, 2300 Tupper, Montreal, Quebec, Canada H3H 1P3.; Fahiminiya S; Faculty of Medicine, Department of Human Genetics, McGill University and Genome Quebec Innovation Center, Montreal, Quebec, Canada H3A 0G1.; Ren H; 1] McGill University, 845 Sherbrooke Street West, Montreal, Quebec, Canada H3A 0G4 [2] McGill Ocular Genetics Laboratory; Departments of Paediatric Surgery, Human Genetics and Ophthalmology, Montreal Children's Hospital, McGill University Health Centre, 2300 Tupper, Montreal, Quebec, Canada H3H 1P3.; MacDonald IM; Department of Ophthalmology and Visual Sciences, University of Alberta/Royal Alexandra Hospital, 10240 Kingsway Avenue, Edmonton, Alberta, Canada AB T5H 3V9.; Lopez I; 1] McGill University, 845 Sherbrooke Street West, Montreal, Quebec, Canada H3A 0G4 [2] McGill Ocular Genetics Laboratory; Departments of Paediatric Surgery, Human Genetics and Ophthalmology, Montreal Children's Hospital, McGill University Health Centre, 2300 Tupper, Montreal, Quebec, Canada H3H 1P3.; Sun V; 1] McGill University, 845 Sherbrooke Street West, Montreal, Quebec, Canada H3A 0G4 [2] McGill Ocular Genetics Laboratory; Departments of Paediatric Surgery, Human Genetics and Ophthalmology, Montreal Children's Hospital, McGill University Health Centre, 2300 Tupper, Montreal, Quebec, Canada H3H 1P3.; Keser V; 1] McGill University, 845 Sherbrooke Street West, Montreal, Quebec, Canada H3A 0G4 [2] McGill Ocular Genetics Laboratory; Departments of Paediatric Surgery, Human Genetics and Ophthalmology, Montreal Children's Hospital, McGill University Health Centre, 2300 Tupper, Montreal, Quebec, Canada H3H 1P3.; Khan A; 1] McGill University, 845 Sherbrooke Street West, Montreal, Quebec, Canada H3A 0G4 [2] McGill Ocular Genetics Laboratory; Departments of Paediatric Surgery, Human Genetics and Ophthalmology, Montreal Children's Hospital, McGill University Health Centre, 2300 Tupper, Montreal, Quebec, Canada H3H 1P3.; Stránecký V; First Faculty of Medicine, Institute for Inherited Metabolic Disorders, Charles University in Prague, 120 00 Prague 2, Czech Republic.; Hartmannová H; First Faculty of Medicine, Institute for Inherited Metabolic Disorders, Charles University in Prague, 120 00 Prague 2, Czech Republic.; Přistoupilová A; First Faculty of Medicine, Institute for Inherited Metabolic Disorders, Charles University in Prague, 120 00 Prague 2, Czech Republic.; Hodaňová K; First Faculty of Medicine, Institute for Inherited Metabolic Disorders, Charles University in Prague, 120 00 Prague 2, Czech Republic.; Piherová L; First Faculty of Medicine, Institute for Inherited Metabolic Disorders, Charles University in Prague, 120 00 Prague 2, Czech Republic.; Kuchař L; First Faculty of Medicine, Institute for Inherited Metabolic Disorders, Charles University in Prague, 120 00 Prague 2, Czech Republic.; Baxová A; First Faculty of Medicine, Institute of Biology and Medical Genetics, Charles University in Prague, 120 00 Prague 2, Czech Republic.; Chen R; Human Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.; Barsottini OG; Division of General Neurology and Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, Sao Paulo 04021-001, Brazil.; Pyle A; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.; Griffin H; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.; Splitt M; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.; Sallum J; Department of Ophthalmology, Universidade Federal de São Paulo, Sao Paulo 04021-001, Brazil.; Tolmie JL; Department of Clinical Genetics, Southern General Hospital, Glasgow G51 4TF, UK.; Sampson JR; Institute of Medical Genetics, Cardiff University School of Medicine, Cardiff CF14 4XN, UK.; Chinnery P; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.; Banin E; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.; Sharon D; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.; Dutta S; Oregon Institute of Occupational Health Sciences, Oregon Health and Science University, Portland, Oregon 97239, USA.; Grebler R; Lehrstuhl fuer Neurobiology und Genetik, Universitaet Wuerzburg, 97074 Wuerzburg, Germany.; Helfrich-Foerster C; Lehrstuhl fuer Neurobiology und Genetik, Universitaet Wuerzburg, 97074 Wuerzburg, Germany.; Pedroso JL; Division of General Neurology and Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, Sao Paulo 04021-001, Brazil.; Kretzschmar D; Oregon Institute of Occupational Health Sciences, Oregon Health and Science University, Portland, Oregon 97239, USA.; Cayouette M; 1] Cellular Neurobiology Research Unit, Institut de recherches cliniques de Montréal (IRCM), 110, Ave des Pins Ouest, Montreal, Quebec, Canada H2W 1R7 [2] Departement de Médecine, Université de Montréal, Montreal, Quebec, Canada H3T 1P1 [3] Division of Experimental Medicine, Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec, Canada H3A 2B2.; Koenekoop RK; 1] McGill University, 845 Sherbrooke Street West, Montreal, Quebec, Canada H3A 0G4 [2] McGill Ocular Genetics Laboratory; Departments of Paediatric Surgery, Human Genetics and Ophthalmology, Montreal Children's Hospital, McGill University Health Centre, 2300 Tupper, Montreal, Quebec, Canada H3H 1P3.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Angelini C; Department of Neurology, University of Padova, Padova, Italy. corrado.angelini@unipd.it; Federico A; Reichmann H; Lombes A; Chinnery P; Turnbull D

Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE

Chinnery, P; Majamaa, K; Turnbull, D; Thorburn, D

COCHRANE DATABASE OF SYSTEMATIC REVIEWS; 2006, 1, pCDD00426 19p.

Herrnstadt, C; Preston, G; Andrews, R; Chinnery, P; Lightowlers, RN; Turnbull, DM; Kubacka, I; Howell, N

MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS; APR 25 2002, 501 1-2, p19-p28, 10p.

Karamohamed, S; Latourelle, JC; Racette, BA; Perlmutter, JS; Wooten, GF; Lew, M; Klein, C; Shill, H; Golbe, LI; Mark, MH; Guttman, M; Nicholson, G; Wilk, JB; Saint-Hilaire, M; DeStefano, L; Prakash, R; Tobin, S; Williamson, J; Suchowersky, O; Labell, N; Growdon, BNJ; Singer, C; Watts, R; Goldwurm, S; Pezzoli, G; Baker, KB; Giroux, ML; Pramstaller, PP; Burn, DJ; Chinnery, P; Sherman, S; Vieregge, P; Litvan, I; Gusella, JF; Myers, RH; Parsian, A

NEUROLOGY; DEC 13 2005, 65 11, p1823-p1825, 3p.

Butteriss, D; Chinnery, P; Birchall, D

BRITISH JOURNAL OF RADIOLOGY; AUG 2005, 78 932, p694-p696, 3p.