부산대학교 도서관

Wright, CF; Campbell, P; Eberhardt, RY; Aitken, S; Perrett, D; Brent, S; Danecek, P; Gardner, EJ; Chundru, VK; Lindsay, SJ; Andrews, K; Hampstead, J; Kaplanis, J; Samocha, KE; Middleton, A; Foreman, J; Hobson, RJ; Parker, MJ; Martin, HC; FitzPatrick, DR; Hurles, ME; Firth, HV

Wright, C F, Campbell, P, Eberhardt, R Y, Aitken, S, Perrett, D, Brent, S, Danecek, P, Gardner, E J, Chundru, V K, Lindsay, S J, Andrews, K A, Hampstead, J, Kaplanis, J, Samocha, K E, Middleton, A, Foreman, J, Hobson, R J, Parker, M, Martin, H C, FitzPatrick, D R, Hurles, M E & Firth, H V 2023, ' Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland ', New England Journal of Medicine . https://doi.org/https://www.nejm.org/doi/10.1056/NEJMoa2209046?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed
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Nat Genet

Mone, F; Eberhardt, RY; Hurles, ME; Mcmullan, DJ; Maher, ER; Lord, J; Chitty, LS; Dempsey, E; Homfray, T; Giordano, JL; Wapner, RJ; Sun, L; Sparks, TN; Norton, ME; Kilby, MD

Ultrasound in Obstetrics & Gynecology. 58:509-518

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BJOG

Mone, F; Eberhardt, RY; Morris, RK; Hurles, ME; McMullan, DJ; Maher, ER; Lord, J; Chitty, LS; Giordano, JL; Wapner, RJ; Kilby, MD; CODE Study Collaborators

Ultrasound in Obstetrics & Gynecology. 57:43-51

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Nature
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Lancet
Wright, C F, Fitzgerald, T W, Jones, W D, Clayton, S, McRae, J F, van Kogelenberg, M, King, D A, Ambridge, K, Barrett, D M, Bayzetinova, T, Bevan, A P, Bragin, E, Chatzimichali, E A, Gribble, S, Jones, P, Krishnappa, N, Mason, L E, Miller, R, Morley, K I, Parthiban, V, Prigmore, E, Rajan, D, Sifrim, A, Swaminathan, G J, Tivey, A R, Middleton, A, Parker, M, Carter, N P, Barrett, J C, Hurles, M E, FitzPatrick, D R, Firth, H V 2015, ' Genetic diagnosis of developmental disorders in the DDD study : a scalable analysis of genome-wide research data ', Lancet, vol. 385, no. 9975, pp. 1305-1314 . https://doi.org/10.1016/S0140-6736(14)61705-0

Stranger BE; Forrest MS; Dunning M; Ingle CE; Beazley C; Thorne N; Redon R; Bird CP; Lee C; Tyler Smith C; Carter N; Scherer SW; Tavare S; Deloukas P; Hurles ME; Dermitzakis ET; DE GRASSI, ANNA

Science. 315:848-853

Harlalka, GV; Lehman, A; Chioza, B; Baple, EL; Maroofian, R; Cross, H; Sreekantan-Nair, A; Priestman, DA; Al-Turki, S; McEntagart, ME; Proukakis, C; Royle, L; Kozak, RP; Bastaki, L; Patton, M; Wagner, K; Coblentz, R; Price, J; Mezei, M; Schlade-Bartusiak, K; Platt, FM; Hurles, ME; Crosby, AH

Brain

Haworth, S; Shapland, CY; Hayward, C; Prins, BP; Felix, JF; Medina-Gomez, C; Rivadeneira, F; Wang, C; Ahluwalia, TS; Vrijheid, M; Guxens, M; Sunyer, J; Tachmazidou, I; Walter, K; Iotchkova, V; Jackson, A; Cleal, L; Huffmann, J; Min, JL; Sass, L; Timmers, PRHJ; Al Turki, S; Anderson, CA; Anney, R; Antony, D; Artigas, MS; Ayub, M; Bala, S; Barrett, JC; Barroso, I; Beales, P; Bentham, J; Bhattacharya, S; Birney, E; Blackwood, D; Bobrow, M; Bochukova, E; Bolton, PF; Bounds, R; Boustred, C; Breen, G; Calissano, M; Carss, K; Charlton, R; Chatterjee, K; Chen, L; Ciampi, A; Cirak, S; Clapham, P; Clement, G; Coates, G; Cocca, M; Collier, DA; Cosgrove, C; Cox, T; Craddock, N; Crooks, L; Curran, S; Curtis, D; Daly, A; Danecek, P; Day, INM; Day-Williams, A; Dominiczak, A; Down, T; Du, Y; Dunham, I; Durbin, R; Edkins, S; Ekong, R; Ellis, P; Evans, DM; Farooqi, IS; Fitzpatrick, DR; Flicek, P; Floyd, J; Foley, AR; Franklin, CS; Futema, M; Gallagher, L; Gaunt, TR; Geihs, M; Geschwind, D; Greenwood, CMT; Griffin, H; Grozeva, D; Guo, X; Gurling, H; Hart, D; Hendricks, AE; Holmans, P; Howie, B; Huang, J; Huang, L; Hubbard, T; Humphries, SE; Hurles, ME; Hysi, P; Jackson, DK; Jamshidi, Y; Joyce, C; Karczewski, KJ; Kaye, J; Keane, T; Kemp, JP; Kennedy, K; Kent, A; Keogh, J; Khawaja, F; van Kogelenberg, M; Kolb-Kokocinski, A; Lachance, G; Langford, C; Lawson, D; Lee, I; Lek, M; Li, R; Li, Y; Liang, J; Lin, H; Liu, R; Lonnqvist, J; Lopes, LR; Lopes, M; MacArthur, DG; Mangino, M; Marchini, J; Marenne, G; Maslen, J; Mathieson, I; McCarthy, S; McGuffin, P; McIntosh, AM; McKechanie, AG; McQuillin, A; Memari, Y; Metrustry, S; Migone, N; Mitchison, HM; Moayyeri, A; Morris, A; Morris, J; Muddyman, D; Muntoni, F; Northstone, K; O'Donovan, MC; O'Rahilly, S; Onoufriadis, A; Oualkacha, K; Owen, MJ; Palotie, A; Panoutsopoulou, K; Parker, V; Parr, JR; Paternoster, L; Paunio, T; Payne, F; Payne, SJ; Perry, JRB; Pietilainen, O; Plagnol, V; Pollitt, RC; Porteous, DJ; Povey, S; Quail, MA; Quaye, L; Raymond, FL; Rehnstrom, K; Richards, JB; Ridout, CK; Ring, S; Ritchie, GRS; Roberts, N; Robinson, RL; Savage, DB; Scambler, P; Schiffels, S; Schmidts, M; Schoenmakers, N; Scott, RH; Semple, RK; Serra, E; Sharp, SI; Shaw, A; Shihab, HA; Shin, S-Y; Skuse, D; Small, KS; Smee, C; Smith, BH; Soranzo, N; Southam, L; Spasic-Boskovic, O; Spector, TD; St Clair, D; Stalker, J; Stevens, E; Sun, J; Surdulescu, G; Suvisaari, J; Syrris, P; Taylor, R; Tian, J; Tobin, MD; Valdes, AM; Vandersteen, AM; Vijayarangakannan, P; Visscher, PM; Wain, LV; Walters, JTR; Wang, G; Wang, J; Wang, Y; Ward, K; Wheeler, E; Whyte, T; Williams, HJ; Williamson, KA; Wilson, C; Wilson, SG; Wong, K; Xu, C; Yang, J; Zhang, F; Zhang, P; Zheng, H-F; Smith, GD; Fisher, SE; Wilson, JF; Cole, TJ; Fernandez-Orth, D; Bonnelykke, K; Bisgaard, H; Pennell, CE; Jaddoe, VWV; Dedoussis, G; Timpson, N; Zeggini, E; Vitart, V; St Pourcain, B; UK10K Consortium

Nat Commun
Recercat. Dipósit de la Recerca de Catalunya
instname
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
Nature Communications
Haworth, S, Shapland, C Y, Hayward, C, Prins, B P, Felix, J F, Medina-Gomez, C, Rivadeneira, F, Wang, C, Ahluwalia, T S, Vrijheid, M, Guxens, M, Sunyer, J, Tachmazidou, I, Walter, K, Iotchkova, V, Jackson, A, Cleal, L, Huffmann, J, Min, J L, Sass, L, Timmers, P R H J, Davey Smith, G, Cole, T J, Timpson, N & Zeggini, E & St Pourcain, B 2019, 'Low-frequency variation in TP53 has large effects on head circumference and intracranial volume', Nature Communications, vol. 10, 357. https://doi.org/10.1038/s41467-018-07863-x
UK10K Consortium, Al Turki, S, Anderson, C A, Anney, R, Zhang, F, Zhang, P & Zheng, H-F 2019, ' Low-frequency variation in TP53 has large effects on head circumference and intracranial volume ', Nature Communications, vol. 10, 357 . https://doi.org/10.1038/s41467-018-07863-x
Haworth, S, Shapland, C Y, Hayward, C, Prins, B P, Felix, J F, Medina-Gómez, C, Rivadeneira, F, Wang, C, Ahluwalia, T S, Vrijheid, M, Guxens, M, Sunyer, J, Tachmazidou, I, Walter, K, Iotchkova, V, Jackson, A, Cleal, L, Huffman, J, Min, J L, Sass, L, Timmers, P R H J, Davey Smith, G, Fisher, S E, Wilson, J F, Cole, T J, Fernandez-Orth, D, Bønnelykke, K, Bisgaard, H, Pennell, C E, Jaddoe, V W V, Dedoussis, G, Timpson, N, Zeggini, E, Vitart, V & St Pourcain, B & McKechanie, A G 2019, ' Low-frequency variation in TP53 has large effects on head circumference and intracranial volume ', Nature Communications, vol. 10, 357 . https://doi.org/10.1038/s41467-018-07863-x

JACKSON MS; OLIVER K; LOVELAND J; HUMPHRAY S; DUNHAM I; ROCCHI, Mariano; VIGGIANO, Luigi; PARK JP; HURLES ME; SANTIBANEZ KOREF M.

The American Journal of Human Genetics. 77:824-840

Kaplanis, J; Samocha, KE; Wiel, L; Zhang, Z; Arvai, KJ; Eberhardt, RY; Gallone, G; Lelieveld, SH; Martin, HC; McRae, JF; Short, PJ; Torene, RI; de Boer, E; Danecek, P; Gardner, EJ; Huang, N; Lord, J; Martincorena, I; Pfundt, R; Reijnders, MRF; Yeung, A; Yntema, HG; Deciphering Developmental Disorders Study, .; Vissers, LELM; Juusola, J; Wright, CF; Brunner, HG; Firth, HV; FitzPatrick, DR; Barrett, JC; Hurles, ME; Gilissen, C; Retterer, K

Wright, CF; Prigmore, E; Rajan, D; Handsaker, J; McRae, J; Kaplanis, J; Fitzgerald, TW; FitzPatrick, DR; Firth, HV; Hurles, ME

Nat Commun
Nature Communications, Vol 10, Iss 1, Pp 1-11 (2019)
Wright, C F, Prigmore, E, Rajan, D, Handsaker, J, McRae, J, Kaplanis, J, Fitzgerald, T W, FitzPatrick, D R, Firth, H V & Hurles, M E 2019, ' Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data ', Nature Communications, vol. 10, no. 1, pp. 2985 . https://doi.org/10.1038/s41467-019-11059-2

Wellcome Trust Case Control Consortium; Craddock, N; Hurles, ME; Cardin, N; Pearson, RD; Plagnol, V; Robson, S; Vukcevic, D; Barnes, C; Conrad, DF; Giannoulatou, E; Holmes, C; Marchini, JL; Stirrups, K; Tobin, MD; Wain, LV; Yau, C; Aerts, J; Ahmad, T; Andrews, TD; Arbury, H; Attwood, A; Auton, A; Ball, SG; Balmforth, AJ; Barrett, JC; Barroso, I; Barton, A; Bennett, AJ; Bhaskar, S; Blaszczyk, K; Bowes, J; Brand, OJ; Braund, PS; Bredin, F; Breen, G; Brown, MJ; Bruce, IN; Bull, J; Burren, OS; Burton, J; Byrnes, J; Caesar, S; Clee, CM; Coffey, AJ; Connell, JM; Cooper, JD; Dominiczak, AF; Downes, K; Drummond, HE; Dudakia, D; Dunham, A; Ebbs, B; Eccles, D; Edkins, S; Edwards, C; Elliot, A; Emery, P; Evans, DM; Evans, G; Eyre, S; Farmer, A; Ferrier, IN; Feuk, L; Fitzgerald, T; Flynn, E; Forbes, A; Forty, L; Franklyn, JA; Freathy, RM; Gibbs, P; Gilbert, P; Gokumen, O; Gordon-Smith, K; Gray, E; Green, E; Groves, CJ; Grozeva, D; Gwilliam, R; Hall, A; Hammond, N; Hardy, M; Harrison, P; Hassanali, N; Hebaishi, H; Hines, S; Hinks, A; Hitman, GA; Hocking, L; Howard, E; Howard, P; Howson, JM; Hughes, D; Hunt, S; Isaacs, JD; Jain, M; Jewell, DP; Johnson, T; Jolley, JD; Jones, IR; Jones, LA; Kirov, G; Langford, CF; Lango-Allen, H; Lathrop, GM; Lee, J; Lee, KL; Lees, C; Lewis, K; Lindgren, CM; Maisuria-Armer, M; Maller, J; Mansfield, J; Martin, P; Massey, DC; McArdle, WL; McGuffin, P; McLay, KE; Mentzer, A; Mimmack, ML; Morgan, AE; Morris, AP; Mowat, C; Myers, S; Newman, W; Nimmo, ER; O'Donovan, MC; Onipinla, A; Onyiah, I; Ovington, NR; Owen, MJ; Palin, K; Parnell, K; Pernet, D; Perry, JR; Phillips, A; Pinto, D; Prescott, NJ; Prokopenko, I; Quail, MA; Rafelt, S; Rayner, NW; Redon, R; Reid, DM; Renwick; Ring, SM; Robertson, N; Russell, E; St Clair D; Sambrook, JG; Sanderson, JD; Schuilenburg, H; Scott, CE; Scott, R; Seal, S; Shaw-Hawkins, S; Shields, BM; Simmonds, MJ; Smyth, DJ; Somaskantharajah, E; Spanova, K; Steer, S; Stephens, J; Stevens, HE; Stone, MA; Su, Z; Symmons, DP; Thompson, JR; Thomson, W; Travers, ME; Turnbull, C; Valsesia, A; Walker, M; Walker, NM; Wallace, C; Warren-Perry, M; Watkins, NA; Webster, J; Weedon, MN; Wilson, AG; Woodburn, M; Wordsworth, BP; Young, AH; Zeggini, E; Carter, NP; Frayling, TM; Lee, C; McVean, G; Munroe, PB; Palotie, A; Sawcer, SJ; Scherer, SW; Strachan, DP; Tyler-Smith, C; Brown, MA; Burton, PR; Caulfield, MJ; Compston, A; Farrall, M; Gough, SC; Hall, AS; Hattersley, AT; Hill, AV; Mathew, CG; Pembrey, M; Satsangi, J; Stratton, MR; Worthington, J; Deloukas, P; Duncanson, A; Kwiatkowski, DP; McCarthy, MI; Ouwehand, W; Parkes, M; Rahman, N; Todd, JA; Samani, NJ; Donnelly, P

U86
Craddock, N, Hurles, M E, Cardin, N, Pearson, R D, Plagnol, V, Robson, S, Vukcevic, D, Barnes, C, Conrad, D F, Giannoulatou, E, Holmes, C, Marchini, J L, Stirrups, K, Tobin, M D, Wain, L V, Yau, C, Aerts, J, Ahmad, T, Andrews, T D, Arbury, H, Attwood, A, Auton, A, Ball, S G, Balmforth, A J, Barrett, J C, Barroso, I, Barton, A, Bennett, A J, Bhaskar, S, Blaszczyk, K, Bowes, J, Brand, O J, Braund, P S, Bredin, F, Breen, G, Brown, M J, Bruce, I N, Bull, J, Burren, O S, Burton, J, Byrnes, J, Caesar, S, Clee, C M, Coffey, A J, Connell, J M C, Cooper, J D, Dominiczak, A F, Downes, K, Drummond, H E, Dudakia, D, Dunham, A, Ebbs, B, Eccles, D, Edkins, S, Edwards, C, Elliot, A, Emery, P, Evans, D M, Evans, G, Eyre, S, Farmer, A, Ferrier, I N, Feuk, L, Fitzgerald, T, Flynn, E, Forbes, A, Forty, L, Franklyn, J A, Freathy, R M, Gibbs, P, Gilbert, P, Gokumen, O, Gordon-Smith, K, Gray, E, Green, E, Groves, C J, Grozeva, D, Gwilliam, R, Hall, A, Hammond, N, Hardy, M, Harrison, P, Hassanali, N, Hebaishi, H, Hines, S, Hinks, A, Hitman, G A, Hocking, L, Howard, E, Howard, P, Howson, J M M, Hughes, D, Hunt, S, Isaacs, J D, Jain, M, Jewell, D P, Johnson, T, Jolley, J D, Jones, I R, Jones, L A, Kirov, G, Langford, C F, Lango-Allen, H, Lathrop, G M, Lee, J, Lee, K L, Lees, C, Lewis, K, Lindgren, C M, Maisuria-Armer, M, Maller, J, Mansfield, J, Martin, P, Massey, D C O, McArdle, W L, McGuffin, P, McLay, K E, Mentzer, A, Mimmack, M L, Morgan, A E, Mowat, C, Myers, S, Newman, W, Nimmo, E R, O'Donovan, M C, Onipinla, A, Onyiah, I, Ovington, N R, Owen, M J, Palin, K, Parnell, K, Pernet, D, Perry, J R B, Phillips, A, Pinto, D, Prescott, N J, Prokopenko, I, Quail, M A, Rafelt, S, Rayner, N W, Redon, R, Reid, D M, Renwick, A, Ring, S M, Robertson, N, Russell, E, Clair, D S, Sambrook, J G, Sanderson, J D, Schuilenburg, H, Scott, C E, Scott, R, Seal, S, Shaw-Hawkins, S, Shields, B M, Simmonds, M J, Smyth, D J, Somaskantharajah, E, Spanova, K, Steer, S, Stephens, J, Stevens, H E, Stone, M A, Su, Z, Symmons, D P M, Thompson, J R, Thomson, W, Travers, M E, Turnbull, C, Valsesia, A, Walker, M, Walker, N M, Wallace, C, Warren-Perry, M, Watkins, N A, Webster, J, Weedon, M N, Wilson, A G, Woodburn, M, Wordsworth, B P, Young, A H, Zeggini, E, Carter, N P, Frayling, T M, Lee, C, McVean, G, Munroe, P B, Palotie, A, Sawcer, S J, Scherer, S W, Strachan, D P, Tyler-Smith, C, Brown, M A, Burton, P R, Caulfield, M J, Compston, A, Farrall, M, Gough, S C L, Hall, A S, Hattersley, A T, Hill, A V S, Mathew, C G, Pembrey, M, Satsangi, J, Stratton, M R, Worthington, J, Deloukas, P, Duncanson, A, Kwiatkowski, D P, McCarthy, M I, Ouwehand, W H, Parkes, M, Rahman, N, Todd, J A, Samani, N J, Donnelly, P & Morris, A 2010, 'Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls', Nature, vol. 464, no. 7289, pp. 713-720. https://doi.org/10.1038/nature08979

King DA; Jones WD; Crow YJ; Dominiczak AF; Foster NA; Gaunt TR; Harris J; Hellens SW; Homfray T; Innes J; Jones EA; Joss S; Kulkarni A; Mansour S; Morris AD; Parker MJ; Porteous DJ; Shihab HA; Smith BH; Tatton-Brown K; Tolmie JL; Trzaskowski M; Vasudevan PC; Wakeling E; Wright M; Plomin R; Timpson NJ; Hurles ME; Deciphering Dev Disorders Study

Hum Mol Genet
King, D A, Jones, W D, Crow, Y J, Dominiczak, A F, Foster, N A, Gaunt, T R, Harris, J, Hellens, S W, Homfray, T, Innes, J, Jones, E A, Joss, S, Kulkarni, A, Mansour, S, Morris, A D, Parker, M J, Porteous, D J, Shihab, H A, Smith, B H, Tatton-Brown, K, Tolmie, J L, Trzaskowski, M, Vasudevan, P C, Wakeling, E, Wright, M, Plomin, R, Timpson, N J, Hurles, M E 2015, ' Mosaic structural variation in children with developmental disorders ', Human Molecular Genetics, pp. 2733-2745 . https://doi.org/10.1093/hmg/ddv033
King, D A, Jones, W D, Crow, Y J, Dominiczak, A F, Foster, N A, Gaunt, T R, Harris, J, Hellens, S W, Homfray, T, Innes, J, Jones, E A, Joss, S, Kulkarni, A, Mansour, S, Morris, A D, Parker, M J, Porteous, D J, Shihab, H A, Smith, B H, Tatton-Brown, K, Tolmie, J L, Trzaskowski, M, Vasudevan, P C, Wakeling, E, Wright, M, Plomin, R, Timpson, N J & Hurles, M E 2015, ' Mosaic structural variation in children with developmental disorders. ', Human Molecular Genetics . https://doi.org/10.1093/hmg/ddv033

Houniet DT; Rahman TJ; Al Turki S; Hurles ME; Xu Y; Goodship J; Keavney B; Koref MS

Bioinformatics
Houniet, D T, Rahman, T J, Al Turki, S, Hurles, M E, Xu, Y, Goodship, J, Keavney, B & Santibanez Koref, M 2015, 'Using population data for assessing next-generation sequencing performance.', Bioinformatics (Oxford, England), vol. 31, no. 1, pp. 56-61. https://doi.org/10.1093/bioinformatics/btu606

Baple, EL; Maroofian, R; Chioza, BA; Izadi, M; Cross, HE; Al-Turki, S; Barwick, K; Skrzypiec, A; Pawlak, R; Wagner, K; Coblentz, R; Zainy, T; Patton, MA; Mansour, S; Rich, P; Qualmann, B; Hurles, ME; Kessels, MM; Crosby, AH

Am J Hum Genet