부산대학교 도서관

Figueroa-Bonaparte, S; Hudson, J; Barresi, R; Polvikoski, T; Williams, T; Töpf, A; Harris, E; Hilton-Jones, D; Petty, R; Willis, T A; Longman, C; Dougan, C F; Parton, M J; Hanna, M G; Quinlivan, R; Farrugia, M E; Guglieri, M; Bushby, K; Straub, V; Lochmüller, H; Evangelista, T

Journal of Neurology, Neurosurgery & Psychiatry. Jun 01, 2016 87(6):680-681

McRae, JF; Clayton, S; Fitzgerald, TW; Kaplanis, J; Prigmore, E; Rajan, D; Sifrim, A; Aitken, S; Akawi, N; Alvi, M; Ambridge, K; Barrett, DM; Bayzetinova, T; Jones, P; Jones, WD; King, D; Krishnappa, N; Mason, LE; Singh, T; Tivey, AR; Ahmed, M; Anjum, U; Archer, H; Armstrong, R; Awada, J; Balasubramanian, M; Banka, S; Baralle, D; Barnicoat, A; Batstone, P; Baty, D; Bennett, C; Berg, J; Bernhard, B; Bevan, AP; Bitner-Glindzicz, M; Blair, E; Blyth, M; Bohanna, D; Bourdon, L; Bourn, D; Bradley, L; Brady, A; Brent, S; Brewer, C; Brunstrom, K; Bunyan, DJ; Burn, J; Canham, N; Castle, B; Chandler, K; Chatzimichali, E; Cilliers, D; Clarke, A; Clasper, S; Clayton-Smith, J; Clowes, V; Coates, A; Cole, T; Colgiu, I; Collins, A; Collinson, MN; Connell, F; Cooper, N; Cox, H; Cresswell, L; Cross, G; Crow, Y; D’Alessandro, M; Dabir, T; Davidson, R; Davies, S; de Vries, D; Dean, J; Deshpande, C; Devlin, G; Dixit, A; Dobbie, A; Donaldson, A; Donnai, D; Donnelly, D; Donnelly, C; Douglas, A; Douzgou, S; Duncan, A; Eason, J; Ellard, S; Ellis, I; Elmslie, F; Evans, K; Everest, S; Fendick, T; Fisher, R; Flinter, F; Foulds, N; Fry, A; Fryer, A; Gardiner, C; Gaunt, L; Ghali, N; Gibbons, R; Gill, H; Goodship, J; Goudie, D; Gray, E; Green, A; Greene, P; Greenhalgh, L; Gribble, S; Harrison, R; Harrison, L; Harrison, V; Hawkins, R; He, L; Hellens, S; Henderson, A; Hewitt, S; Hildyard, L; Hobson, E; Holden, S; Holder, M; Holder, S; Hollingsworth, G; Homfray, T; Humphreys, M; Hurst, J; Hutton, B; Ingram, S; Irving, M; Islam, L; Jackson, A; Jarvis, J; Jenkins, L; Johnson, D; Jones, E; Josifova, D; Joss, S; Kaemba, B; Kazembe, S; Kelsell, R; Kerr, B; Kingston, H; Kini, U; Kinning, E; Kirby, G; Kirk, C; Kivuva, E; Kraus, A; Kumar, D; Kumar, VKA; Lachlan, K; Lam, W; Lampe, A; Langman, C; Lees, M; Lim, D; Longman, C; Lowther, G; Lynch, SA; Magee, A; Maher, E; Male, A; Mansour, S; Marks, K; Martin, K; Maye, U; McCann, E; McConnell, V; McEntagart, M; McGowan, R; McKay, K; McKee, S; McMullan, DJ; McNerlan, S; McWilliam, C; Mehta, S; Metcalfe, K; Middleton, A; Miedzybrodzka, Z; Miles, E; Mohammed, S; Montgomery, T; Moore, D; Morgan, S; Morton, J; Mugalaasi, H; Murday, V; Murphy, H; Naik, S; Nemeth, A; Nevitt, L; Newbury-Ecob, R; Norman, A; O’Shea, R; Ogilvie, C; Ong, K-R; Park, S-M; Parker, MJ; Patel, C; Paterson, J; Payne, S; Perrett, D; Phipps, J; Pilz, DT; Pollard, M; Pottinger, C; Poulton, J; Pratt, N; Prescott, K; Price, S; Pridham, A; Procter, A; Purnell, H; Quarrell, O; Ragge, N; Rahbari, R; Randall, J; Rankin, J; Raymond, L; Rice, D; Robert, L; Roberts, E; Roberts, J; Roberts, P; Roberts, G; Ross, A; Rosser, E; Saggar, A; Samant, S; Sampson, J; Sandford, R; Sarkar, A; Schweiger, S; Scott, R; Scurr, I; Selby, A; Seller, A; Sequeira, C; Shannon, N; Sharif, S; Shaw-Smith, C; Shearing, E; Shears, D; Sheridan, E; Simonic, I; Singzon, R; Skitt, Z; Smith, A; Smith, K; Smithson, S; Sneddon, L; Splitt, M; Squires, M; Stewart, F; Stewart, H; Straub, V; Suri, M; Sutton, V; Swaminathan, GJ; Sweeney, E; Tatton-Brown, K; Taylor, C; Taylor, R; Tein, M; Temple, IK; Thomson, J; Tischkowitz, M; Tomkins, S; Torokwa, A; Treacy, B; Turner, C; Turnpenny, P; Tysoe, C; Vandersteen, A; Varghese, V; Vasudevan, P; Vijayarangakannan, P; Vogt, J; Wakeling, E; Wallwark, S; Waters, J; Weber, A; Wellesley, D; Whiteford, M; Widaa, S; Wilcox, S; Wilkinson, E; Williams, D; Williams, N; Wilson, L; Woods, G; Wragg, C; Wright, M; Yates, L; Yau, M; Nellåker, C; Parker, M; Firth, HV; Wright, CF; FitzPatrick, DR; Barrett, JC; Hurles, ME

Nature
2017, ' Prevalence and architecture of de novo mutations in developmental disorders ', Nature, vol. 542, no. 7642, pp. 433-438 . https://doi.org/10.1038/nature21062
Deciphering Developmental Disorders Study, McRae, J, Clayton, S, Fitzgerald, T W, Kaplanis, J, Prigmore, E, Rajan, D, Sifrim, A, Aitken, S, Akawi, N, Alvi, M, Ambridge, K, Barrett, D M, Bayzetinova, T, Jones, P, Jones, W D, King, D, Krishnappa, N, Mason, L, Singh, T, Tivey, A, Ahmed, M, Anjum, U, Archer, H, Armstrong, R, Awada, J, Balasubramanian, M, Banka, S, Baralle, D, Barnicoat, A J, Batstone, P, Baty, D, Bennett, C, Berg, J, Bernhard, B, Bevan, A P, Bitner-Glindzicz, M A K, Blair, E, Blyth, M, Bohanna, D, Bourdon, L, Bourn, D, Bradley, L, Brady, A, Brent, S, Brewer, C, Brunstrom, K, Bunyan, D J, Burn, J, Canham, N, Castle, B, Chandler, K, Chatzimichali, EA, Cilliers, D, Clarke, A, Clasper, S, Clayton-Smith, J, Clowes, V, Coates, A, Cole, T, Colgiu, I-G, Collins, A, Collinson, M N, Connell, F C, Cooper, N, Cox, H, Cresswell, L, Cross, G, Crow, Y, D'Alessandro, M, Dabir, T, Davidson, R, Davies, S, de Vries, D, Dean, J, Deshpande, C, Devlin, G, Dixit, A, Dobbie, A, Donaldson, A, Donnai, D, Donnelly, D, Donnelly, C, Douglas, A, Douzgou, S, Duncan, A, Eason, J, Ellard, S, Ellis, I, Elmslie, F, Evans, K, Everest, S, Fendick, T, Fisher, R, Flinter, F, Foulds, N, Fry, A E, Fryer, A, Gardiner, C, Gaunt, L, Ghali, N, Gibbons, R, Gill, H, Goodship, J, Goudie, D R, Gray, E, Green, A, Greene, P, Greenhalgh, L, Gribble, S, Harrison, R, Harrison, L, Harrison, V, Hawkins, R, He, L, Hellens, S, Henderson, A, Hewitt, S, Hildyard, L, Hobson, E, Holden, S, Holder, M, Holder, S, Hollingsworth, G, Homfray, T, Humphreys, M, Hurst, J, Hutton, B, Ingram, S, Irving, M, Irving, M, Jackson, A, Jarvis, J, Jenkins, L, Johnson, D, Jones, E, Josifova, D, Joss, S, Kaemba, B, Kazembe, S, Kelsell, R, Kerr, B, Kingston, H, Kini, U, Kinning, E, Kirby, G, Kirk, C, Kivuva, E, Kraus, A, Kumar, D, Kumar, V K A, Lachlan, K, Lam, W, Lampe, A K, Langman, C, Lees, M, Lim, D, Longman, C, Lowther, G, Lynch, S A, Magee, A, Maher, E, Male, A, Mansour, S, Marks, K, Martin, K, Maye, U, Maye, U, McConnell, V, McEntagart, M, McKay, K, McGowan, R, Mckee, S, McMullan, D J, McNerlan, S, McWilliam, C, Mehta, S, Metcalfe, K, Middleton, A, Miedzybrodzka, Z, Miles, E K, Mohammed, S, Montgomery, T, Moore, D, Morgan, S, Morton, J E, Mugalaasi, H, Murday, V, Murphy, H, Naik, S, Nemeth, A M, Nevitt, L, Newbury-Ecob, R, Norman, A, O’Shea, R, Ogilvie, C, Ong, K, Park, S M, Parker, M J, Patel, C, Paterson, J, Payne, S J, Perrett, D, Phipps, J, Pilz, D T, Pollard, M, Pottinger, C, Poulton, J, Pratt, N, Prescott, K, Price, S, Pridham, A, Procter, A M, Purnell, H, Quarrell, O, Ragge, N, Rahbari, R, Randall, J, Rankin, J, Raymond, F L, Rice, D, Robert, L, Roberts, E, Roberts, J, Roberts, P, Roberts, G, Ross, A, Rosser, E, Saggar, A K, Samant, S, Sampson, J, Sandford, R, Sarkar, A, Schweiger, S, Scott, R, Scurr, I, Selby, A, Seller, A, Sequeira, C, Shannon, N, Sharif, S, Shaw-Smith, C, Shearing, E, Shears, D, Sheridan, E, Simonic, I, Singzon, R, Skitt, Z, Smith, A, Smith, K, Smithson, S, Sneddon, L, Splitt, M, Squires, M, Stewart, F, Stewart, H, Straub, V, Suri, M, Sutton, V, Swaminathan, G J, Sweeney, E, Tatton-Brown, K, Taylor, C, Taylor, R, Tein, M, Temple, I K, Thomson, J, Tischkowitz, M, Tomkins, S, Torokwa, A, Treacy, B, Turner, C, Turnpenny, P, Tysoe, C, Vandersteen, A, Varghese, V, Vasudevan, P, Vijayarangakannan, P, Vogt, J, Wakeling, E, Wallwark, S, Waters, J, Weber, A, Wellesley, D, Whiteford, M, Widaa, S, Wilcox, S, Wilkinson, E, Williams, D, Williams, N, Wilson, L, Woods, G, Wragg, C, Wright, M, Yates, L, Yau, M, Nellåker, C, Parker, M, Firth, H V, Wright, C F, FitzPatrickd, D R, Barrett, J C & Hurles, M E 2017, 'Prevalence and architecture of de novo mutations in developmental disorders', Nature, vol. 542, no. 7642, pp. 433-438. https://doi.org/10.1038/nature21062

Shaw, A; Longman, C; Wicks, C; Lund, JN

Bulletin of the Royal College of Surgeons of England. Sep 01, 2009 8(91):280-282

Beltran-Valero de Bernabé, D; Voit, T; Longman, C; Steinbrecher, A; Straub, V; Yuva, Y; Herrmann, R; Sperner, J; Korenke, C; Diesen, C; Dobyns, W B; Brunner, H G; van Bokhoven, H; Brockington, M; Muntoni, F

JOURNAL OF MEDICAL GENETICS. May 01, 2004 41(5):e61-e61

Behan, W M H; Longman, C; Petty, R K H; Comeglio, P; Child, A H; Boxer, M; Foskett, P; Harriman, D G F

Journal of Neurology, Neurosurgery, & Psychiatry. May 01, 2003 74(5):633-638

Hilton-Jones, D; Bowler, M; Lochmueller, H; Longman, C; Petty, R; Roberts, M; Rogers, M; Turner, C; Wilcox, D

Neuromuscular Disorders. 22:597-603

Scoto, M; Cirak, S; Mein, R; Feng, L; Manzur, Ay; Robb, S; Childs, A; Quinlivan, Rm; Roper, H; Jones, Dh; Longman, C; Chow, G; Pane, Marika; Main, M; Hanna, Mg; Bushby, K; Sewry, C; Abbs, S; Mercuri, Eugenio Maria; Muntoni, F.

Neurology. 76:2073-2078

Ullmann, U; D’Argenzio, L; Mathur, S; Whyte, T; Quinlivan, R; Longman, C; Farrugia, ME; Manzur, A; Willis, T; Jungbluth, H; Pitt, M; Cirak, S; UK10K consortium, .; Feng, L; Stewart, W; Mein, R; Phadke, R; Sewry, C; Sarkozy, A; Muntoni, F

Behan, W. M. H; Longman, C; Petty, R. K. H; Boxer, M; Foskett, P; Harriman, D. G. F

Neuropathology & Applied Neurobiology. Apr2002, Vol. 28 Issue 2, p155-155. 1p.

McRae, JF; Clayton, S; Fitzgerald, TW; Kaplanis, J; Prigmore, E; Rajan, D; Sifrim, A; Aitken, S; Akawi, N; Alvi, M; Ambridge, K; Barrett, DM; Bayzetinova, T; Jones, P; Jones, WD; King, D; Krishnappa, N; Mason, LE; Singh, T; Tivey, AR; Ahmed, M; Anjum, U; Archer, H; Armstrong, R; Awada, J; Balasubramanian, M; Banka, S; Baralle, D; Barnicoat, A; Batstone, P; Baty, D; Bennett, C; Berg, J; Bernhard, B; Bevan, AP; Bitner-Glindzicz, M; Blair, E; Blyth, M; Bohanna, D; Bourdon, L; Bourn, D; Bradley, L; Brady, A; Brent, S; Brewer, C; Brunstrom, K; Bunyan, DJ; Burn, J; Canham, N; Castle, B; Chandler, K; Chatzimichali, E; Cilliers, D; Clarke, A; Clasper, S; Clayton-Smith, J; Clowes, V; Coates, A; Cole, T; Colgiu, I; Collins, A; Collinson, MN; Connell, F; Cooper, N; Cox, H; Cresswell, L; Cross, G; Crow, Y; D'Alessandro, M; Dabir, T; Davidson, R; Davies, S; de Vries, D; Dean, J; Deshpande, C; Devlin, G; Dixit, A; Dobbie, A; Donaldson, A; Donnai, D; Donnelly, D; Donnelly, C; Douglas, A; Douzgou, S; Duncan, A; Eason, J; Ellard, S; Ellis, I; Elmslie, F; Evans, K; Everest, S; Fendick, T; Fisher, R; Flinter, F; Foulds, N; Fry, A; Fryer, A; Gardiner, C; Gaunt, L; Ghali, N; Gibbons, R; Gill, H; Goodship, J; Goudie, D; Gray, E; Green, A; Greene, P; Greenhalgh, L; Gribble, S; Harrison, L; Harrison, V; Hawkins, R; He, L; Hellens, S; Henderson, A; Hewitt, S; Hildyard, L; Hobson, E; Holden, S; Holder, M; Holder, S; Hollingsworth, G; Homfray, T; Humphreys, M; Hurst, J; Hutton, B; Ingram, S; Irving, M; Islam, L; Jackson, A; Jarvis, J; Jenkins, L; Johnson, D; Jones, E; Josifova, D; Joss, S; Kaemba, B; Kazembe, S; Kelsell, R; Kerr, B; Kingston, H; Kini, U; Kinning, E; Kirby, G; Kirk, C; Kivuva, E; Kraus, A; Kumar, D; Kumar, VKA; Lachlan, K; Lam, W; Lampe, A; Langman, C; Lees, M; Lim, D; Longman, C; Lowther, G; Lynch, SA; Magee, A; Maher, E; Male, A; Mansour, S; Marks, K; Martin, K; Maye, U; McCann, E; McConnell, V; McEntagart, M; McGowan, R; McKay, K; McKee, S; McMullan, DJ; McNerlan, S; McWilliam, C; Mehta, S; Metcalfe, K; Middleton, A; Miedzybrodzka, Z; Miles, E; Mohammed, S; Montgomery, T; Moore, D; Morgan, S; Morton, J; Mugalaasi, H; Murday, V; Murphy, H; Naik, S; Nemeth, A; Nevitt, L; Newbury-Ecob, R; Norman, A; O'Shea, R; Ogilvie, C; Ong, K-R; Park, S-M; Parker, MJ; Patel, C; Paterson, J; Payne, S; Perrett, D; Phipps, J; Pilz, DT; Pollard, M; Pottinger, C; Poulton, J; Pratt, N; Prescott, K; Price, S; Pridham, A; Procter, A; Purnell, H; Quarrell, O; Ragge, N; Rahbari, R; Randall, J; Rankin, J; Raymond, L; Rice, D; Robert, L; Roberts, E; Roberts, J; Roberts, P; Roberts, G; Ross, A; Rosser, E; Saggar, A; Samant, S; Sampson, J; Sandford, R; Sarkar, A; Schweiger, S; Scott, R; Scurr, I; Selby, A; Seller, A; Sequeira, C; Shannon, N; Sharif, S; Shaw-Smith, C; Shearing, E; Shears, D; Sheridan, E; Simonic, I; Singzon, R; Skitt, Z; Smith, A; Smith, K; Smithson, S; Sneddon, L; Splitt, M; Squires, M; Stewart, F; Stewart, H; Straub, V; Suri, M; Sutton, V; Swaminathan, GJ; Sweeney, E; Tatton-Brown, K; Taylor, C; Taylor, R; Tein, M; Temple, IK; Thomson, J; Tischkowitz, M; Tomkins, S; Torokwa, A; Treacy, B; Turner, C; Turnpenny, P; Tysoe, C; Vandersteen, A; Varghese, V; Vasudevan, P; Vijayarangakannan, P; Vogt, J; Wakeling, E; Wallwark, S; Waters, J; Weber, A; Wellesley, D; Whiteford, M; Widaa, S; Wilcox, S; Wilkinson, E; Williams, D; Williams, N; Wilson, L; Woods, G; Wragg, C; Wright, M; Yates, L; Yau, M; Nellaker, C; Firth, HV; Wright, CF; FitzPatrick, DR; Barrett, JC; Hurles, ME

bioRxiv
McRae, JF, Clayton, S, Fitzgerald, TW, Kaplanis, J, Prigmore, E, Rajan, D, Sifrim, A, Aitken, S, Akawi, N, Alvi, M, Ambridge, K, Barrett, DM, Bayzetinova, T & Tayl, C 2016, ' Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study ', bioRxiv . https://doi.org/10.1101/049056

Petty RKH; South East of Scotland Clinical Genetic Services, Molecular Medicine Centre, Western General Hospital, Edinburgh EH4 2XU, United Kingdom. Electronic address: richard.petty@nhs.net.; Eugenicos MP; Department of Gastroenterology, Western General Hospital, Edinburgh EH4 2XU, United Kingdom.; Hamilton MJ; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, United Kingdom.; Farrugia ME; Department of Neurology, Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow G51 4TF, United Kingdom.; Robb Y; South East of Scotland Clinical Genetic Services, Molecular Medicine Centre, Western General Hospital, Edinburgh EH4 2XU, United Kingdom.; Ballantyne R; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, United Kingdom.; Gregory H; Department of Medical Genetics, Grampian University Hospital, Aberdeen AB25 2ZA, United Kingdom.; McWilliam C; Human Genetics Unit, Ninewells Hospital, Dundee DD1 9SY, United Kingdom.; Longman C; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, United Kingdom.

Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2364 (Electronic) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE

Shaw AG; School of Graduate Entry Medicine and Health, University of Nottingham, Nottingham, UK. drshaw@doctors.net.uk; Lund JN; Longman C; Tierney GM; Goddard AF

Publisher: Blackwell Science Ltd Country of Publication: England NLM ID: 100883611 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1463-1318 (Electronic) Linking ISSN: 14628910 NLM ISO Abbreviation: Colorectal Dis Subsets: MEDLINE

Clement, E; Godfrey, C; Tan, J; Brockington, M; Torelli, S; Feng, L; Brown, S; Jimenez-Mallebrera, C; Sewry, C; Longman, C; Mein, R; Abbs, S; Vajsar, J; Schachter, H; Muntoni, F

Archives of Neurology
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

Debacker K; Department of Medical Genetics, University of Antwerp, Belgium.; Winnepenninckx B; Longman C; Colgan J; Tolmie J; Murray R; van Luijk R; Scheers S; Fitzpatrick D; Kooy F

Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101142708 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1424-859X (Electronic) Linking ISSN: 14248581 NLM ISO Abbreviation: Cytogenet Genome Res Subsets: MEDLINE

Sellick GS; Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, UK.; Longman C; Brockington M; Mahjneh I; Sagi L; Bushby K; Topaloğlu H; Muntoni F; Houlston RS

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0340-6717 (Print) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Jungbluth, H; Zhou, H; Hartley, L; Halliger-Keller, B; Messina, S; Longman, C; Brockington, M; Robb, SA; Straub, V; Voit, T; Swash, M; Ferreiro, A; Bydder, G; Sewry, CA; Muller, C; Muntoni, F

NEUROLOGY; DEC 27 2005, 65 12, p1930-p1935, 6p.

Mercuri, E; Longman, C

PEDIATRIC ANNALS; JUL 2005, 34 7, p560-p+, 8p.

Brockington, M; Torelli, S; Prandini, P; Boito, C; Dolatshad, NF; Longman, C; Brown, SC; Muntoni, F

HUMAN MOLECULAR GENETICS; MAR 1 2005, 14 5, p657-p665, 9p.

Mercuri, E; Lampe, A; Straub, V; Yuva, Y; Longman, C; Wright, M; Brown, S; Sewry, C; Bonnemann, C; Kinali, M; Brockington, M; Hausser, I; Jones, DH; Voit, T; Bushby, K; Muntoni, F

NEUROPEDIATRICS; AUG 2004, 35 4, p224-p229, 6p.

Longman, C; Mercuri, E; Cowan, F; Allsop, J; Brockington, M; Jimenez-Mallebrera, C; Kumar, S; Rutherford, M; Toda, T; Muntoni, F

ARCHIVES OF NEUROLOGY; AUG 2004, 61 8, p1301-p1306, 6p.