부산대학교 도서관

Fitzgerald, T.W.; Gerety, S.S.; Jones, W.D.; van Kogelenberg, M.; King, D.A.; McRae, J.; Morley, K.I.; Parthiban, V.; Al-Turki, S.; Ambridge, K.; Barrett, D.M.; Bayzetinova, T.; Clayton, S.; Coomber, E.L.; Gribble, S.; Jones, P.; Krishnappa, N.; Mason, L.E.; Middleton, A.; Miller, R.; Prigmore, E.; Rajan, D.; Sifrim, A.; Tivey, A.R.; Ahmed, M.; Akawi, N.; Andrews, R.; Anjum, U.; Archer, H.; Armstrong, R.; Balasubramanian, M.; Banerjee, R.; Barelle, D.; Batstone, P.; Baty, D.; Bennett, C.; Berg, J.; Bernhard, B.; Bevan, A.P.; Blair, E.; Blyth, M.; Bohanna, D.; Bourdon, L.; Bourn, D.; Brady, A.; Bragin, E.; Brewer, C.; Brueton, L.; Brunstrom, K.; Bumpstead, S.J.; Bunyan, D.J.; Burn, J.; Burton, J.; Canham, N.; Castle, B.; Chandler, K.; Clasper, S.; Clayton-Smith, J.; Cole, T.; Collins, A.; Collinson, M.N.; Connell, F.; Cooper, N.; Cox, H.; Cresswell, L.; Cross, G.; Crow, Y.; D’Alessandro, P.M.; Dabir, T.; Davidson, R.; Davies, S.; Dean, J.; Deshpande, C.; Devlin, G.; Dixit, A.; Dominiczak, A.; Donnelly, C.; Donnelly, D.; Douglas, A.; Duncan, A.; Eason, J.; Edkins, S.; Ellard, S.; Ellis, P.; Elmslie, F.; Evans, K.; Everest, S.; Fendick, T.; Fisher, R.; Flinter, F.; Foulds, N.; Fryer, A.; Fu, B.; Gardiner, C.; Gaunt, L.; Ghali, N.; Gibbons, R.; Pereira, S.L. Gomes; Goodship, J.; Goudie, D.; Gray, E.; Greene, P.; Greenhalgh, L.; Harrison, L.; Hawkins, R.; Hellens, S.; Henderson, A.; Hobson, E.; Holden, S.; Holder, S.; Hollingsworth, G.; Homfray, T.; Humphreys, M.; Hurst, J.; Ingram, S.; Irving, M.; Jarvis, J.; Jenkins, L.; Johnson, D.; Jones, D.; Jones, E.; Josifova, D.; Joss, S.; Kaemba, B.; Kazembe, S.; Kerr, B.; Kini, U.; Kinning, E.; Kirby, G.; Kirk, C.; Kivuva, E.; Kraus, A.; Kumar, D.; Lachlan, K.; Lam, W.; Lampe, A.; Langman, C.; Lees, M.; Lim, D.; Lowther, G.; Lynch, S.A.; Magee, A.; Maher, E.; Mansour, S.; Marks, K.; Martin, K.; Maye, U.; McCann, E.; McConnell, V.; McEntagart, M.; McGowan, R.; McKay, K.; McKee, S.; McMullan, D.J.; McNerlan, S.; Mehta, S.; Metcalfe, K.; Miles, E.; Mohammed, S.; Montgomery, T.; Moore, D.; Morgan, S.; Morris, A.; Morton, J.; Mugalaasi, H.; Murday, V.; Nevitt, L.; Newbury-Ecob, R.; Norman, A.; O’Shea, R.; Ogilvie, C.; Park, S.; Parker, M.J.; Patel, C.; Paterson, J.; Payne, S.; Phipps, J.; Pilz, D.T.; Porteous, D.; Pratt, N.; Prescott, K.; Price, S.; Pridham, A.; Proctor, A.; Purnell, H.; Ragge, N.; Rankin, J.; Raymond, L.; Rice, D.; Robert, L.; Roberts, E.; Roberts, G.; Roberts, J.; Roberts, P.; Ross, A.; Rosser, E.; Saggar, A.; Samant, S.; Sandford, R.; Sarkar, A.; Schweiger, S.; Scott, C.; Scott, R.; Selby, A.; Seller, A.; Sequeira, C.; Shannon, N.; Sharif, S.; Shaw-Smith, C.; Shearing, E.; Shears, D.; Simonic, I.; Simpkin, D.; Singzon, R.; Skitt, Z.; Smith, A.; Smith, B.; Smith, K.; Smithson, S.; Sneddon, L.; Splitt, M.; Squires, M.; Stewart, F.; Stewart, H.; Suri, M.; Sutton, V.; Swaminathan, G.J.; Sweeney, E.; Tatton-Brown, K.; Taylor, C.; Taylor, R.; Tein, M.; Temple, I.K.; Thomson, J.; Tolmie, J.; Torokwa, A.; Treacy, B.; Turner, C.; Turnpenny, P.; Tysoe, C.; Vandersteen, A.; Vasudevan, P.; Vogt, J.; Wakeling, E.; Walker, D.; Waters, J.; Weber, A.; Wellesley, D.; Whiteford, M.; Widaa, S.; Wilcox, S.; Williams, D.; Williams, N.; Woods, G.; Wragg, C.; Wright, M.; Yang, F.; Yau, M.; Carter, N.P.; Parker, M.; Firth, H.V.; FitzPatrick, D.R.; Wright, C.F.; Barrett, J.C.; Hurles, M.E.; Aitken, Stuart ; Firth, Helen V. ; McRae, Jeremy ; Halachev, Mihail ; Kini, Usha ; Parker, Michael J. ; Lees, Melissa M. ; Lachlan, Katherine ; Sarkar, Ajoy ; Joss, Shelagh ; Splitt, Miranda ; McKee, Shane ; Németh, Andrea H. ; Scott, Richard H. ; Wright, Caroline F. ; Marsh, Joseph A. ; Hurles, Matthew E. ; FitzPatrick, David R.

In The American Journal of Human Genetics 7 November 2019 105(5):933-946

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

Fitzgerald, T.W.; Gerety, S.S.; Jones, W.D.; van Kogelenberg, M.; King, D.A.; McRae, J.; Morley, K.I.; Parthiban, V.; Al-Turki, S.; Ambridge, K.; Barrett, D.M.; Bayzetinova, T.; Clayton, S.; Coomber, E.L.; Gribble, S.; Jones, P.; Krishnappa, N.; Mason, L.E.; Middleton, A.; Miller, R.; Prigmore, E.; Rajan, D.; Sifrim, A.; Tivey, A.R.; Ahmed, M.; Akawi, N.; Andrews, R.; Anjum, U.; Archer, H.; Armstrong, R.; Balasubramanian, M.; Banerjee, R.; Baralle, D.; Batstone, P.; Baty, D.; Bennett, C.; Berg, J.; Bernhard, B.; Bevan, A.P.; Blair, E.; Blyth, M.; Bohanna, D.; Bourdon, L.; Bourn, D.; Brady, A.; Bragin, E.; Brewer, C.; Brueton, L.; Brunstrom, K.; Bumpstead, S.J.; Bunyan, D.J.; Burn, J.; Burton, J.; Canham, N.; Castle, B.; Chandler, K.; Clasper, S.; Clayton-Smith, J.; Cole, T.; Collins, A.; Collinson, M.N.; Connell, F.; Cooper, N.; Cox, H.; Cresswell, L.; Cross, G.; Crow, Y.; D'Alessandro, M.; Dabir, T.; Davidson, R.; Davies, S.; Dean, J.; Deshpande, C.; Devlin, G.; Dixit, A.; Dominiczak, A.; Donnelly, C.; Donnelly, D.; Douglas, A.; Duncan, A.; Eason, J.; Edkins, S.; Ellard, S.; Ellis, P.; Elmslie, F.; Evans, K.; Everest, S.; Fendick, T.; Fisher, R.; Flinter, F.; Foulds, N.; Fryer, A.; Fu, B.; Gardiner, C.; Gaunt, L.; Ghali, N.; Gibbons, R.; Pereira, S.L.G.; Goodship, J.; Goudie, D.; Gray, E.; Greene, P.; Greenhalgh, L.; Harrison, L.; Hawkins, R.; Hellens, S.; Henderson, A.; Hobson, E.; Holden, S.; Holder, S.; Hollingsworth, G.; Homfray, T.; Humphreys, M.; Hurst, J.; Ingram, S.; Irving, M.; Jarvis, J.; Jenkins, L.; Johnson, D.; Jones, D.; Jones, E.; Josifova, D.; Joss, S.; Kaemba, B.; Kazembe, S.; Kerr, B.; Kini, U.; Kinning, E.; Kirby, G.; Kirk, C.; Kivuva, E.; Kraus, A.; Kumar, D.; Lachlan, K.; Lam, W.; Lampe, A.; Langman, C.; Lees, M.; Lim, D.; Lowther, G.; Lynch, S.A.; Magee, A.; Maher, E.; Mansour, S.; Marks, K.; Martin, K.; Maye, U.; McCann, E.; McConnell, V.; McEntagart, M.; McGowan, R.; McKay, K.; McKee, S.; McMullan, D.J.; McNerlan, S.; Mehta, S.; Metcalfe, K.; Miles, E.; Mohammed, S.; Montgomery, T.; Moore, D.; Morgan, S.; Morris, A.; Morton, J.; Mugalaasi, H.; Murday, V.; Nevitt, L.; Newbury-Ecob, R.; Norman, A.; O'Shea, R.; Ogilvie, C.; Park, S.; Parker, M.J.; Patel, C.; Paterson, J.; Payne, S.; Phipps, J.; Pilz, D.T.; Porteous, D.; Pratt, N.; Prescott, K.; Price, S.; Pridham, A.; Procter, A.; Purnell, H.; Ragge, N.; Rankin, J.; Raymond, L.; Rice, D.; Robert, L.; Roberts, E.; Roberts, G.; Roberts, J.; Roberts, P.; Ross, A.; Rosser, E.; Saggar, A.; Samant, S.; Sandford, R.; Sarkar, A.; Schweier, S.; Scott, C.; Scott, R.; Selby, A.; Seller, A.; Sequeira, C.; Shannon, N.; Shanrif, S.; Shaw-Smith, C.; Shearing, E.; Shears, D.; Simonic, I.; Simpkin, D.; Singzon, R.; Skitt, Z.; Smith, A.; Smith, B.; Smith, K.; Smithson, S.; Sneddon, L.; Splitt, M.; Squires, M.; Stewart, F.; Stewart, H.; Suri, M.; Sutton, V.; Swaminathan, G.J.; Sweeney, E.; Tatton-Brown, K.; Taylor, C.; Taylor, R.; Tein, M.; Temple, I.K.; Thomson, J.; Tolmie, J.; Torokwa, A.; Treacy, B.; Turner, C.; Turnpenny, P.; Tysoe, C.; Vandersteen, A.; Vasudevan, P.; Vogt, J.; Wakeling, E.; Walker, D.; Waters, J.; Weber, A.; Wellesley, D.; Whiteford, M.; Widaa, S.; Wilcox, S.; Williams, D.; Williams, N.; Woods, G.; Wragg, C.; Wright, M.; Yang, F.; Yau, M.; Carter, N.P.; Parker, M.; Firth, H.V.; FitzPatrick, D.R.; Wright, C.F.; Barrett, J.C.; Hurles, M.E.; The Deciphering Developmental Disorders Study, .

Nature

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

Fitzgerald, T. W.; Gerety, S. S.; Jones, W. D.; van Kogelenberg, M.; King, D. A.; McRae, J.; Morley, K. I.; Parthiban, V.; Al-Turki, S.; Ambridge, K.; Barrett, D. M.; Bayzetinova, T.; Clayton, S.; Coomber, E. L.; Gribble, S.; Jones, P.; Krishnappa, N.; Mason, L. E.; Middleton, A.; Miller, R.; Prigmore, E.; Rajan, D.; Sifrim, A.; Tivey, A. R.; Ahmed, M.; Akawi, N.; Andrews, R.; Anjum, U.; Archer, H.; Armstrong, R.; Balasubramanian, M.; Banerjee, R.; Baralle, D.; Batstone, P.; Baty, D.; Bennett, C.; Berg, J.; Bernhard, B.; Bevan, A. P.; Blair, E.; Blyth, M.; Bohanna, D.; Bourdon, L.; Bourn, D.; Brady, A.; Bragin, E.; Brewer, C.; Brueton, L.; Brunstrom, K.; Bumpstead, S. J.; Bunyan, D. J.; Burn, J.; Burton, J.; Canham, N.; Castle, B.; Chandler, K.; Clasper, S.; Clayton-Smith, J.; Cole, T.; Collins, A.; Collinson, M. N.; Connell, F.; Cooper, N.; Cox, H.; Cresswell, L.; Cross, G.; Crow, Y.; DʼAlessandro, M.; Dabir, T.; Davidson, R.; Davies, S.; Dean, J.; Deshpande, C.; Devlin, G.; Dixit, A.; Dominiczak, A.; Donnelly, C.; Donnelly, D.; Douglas, A.; Duncan, A.; Eason, J.; Edkins, S.; Ellard, S.; Ellis, P.; Elmslie, F.; Evans, K.; Everest, S.; Fendick, T.; Fisher, R.; Flinter, F.; Foulds, N.; Fryer, A.; Fu, B.; Gardiner, C.; Gaunt, L.; Ghali, N.; Gibbons, R.; Pereira, Gomes S. L.; Goodship, J.; Goudie, D.; Gray, E.; Greene, P.; Greenhalgh, L.; Harrison, L.; Hawkins, R.; Hellens, S.; Henderson, A.; Hobson, E.; Holden, S.; Holder, S.; Hollingsworth, G.; Homfray, T.; Humphreys, M.; Hurst, J.; Ingram, S.; Irving, M.; Jarvis, J.; Jenkins, L.; Johnson, D.; Jones, D.; Jones, E.; Josifova, D.; Joss, S.; Kaemba, B.; Kazembe, S.; Kerr, B.; Kini, U.; Kinning, E.; Kirby, G.; Kirk, C.; Kivuva, E.; Kraus, A.; Kumar, D.; Lachlan, K.; Lam, W.; Lampe, A.; Langman, C.; Lees, M.; Lim, D.; Lowther, G.; Lynch, S. A.; Magee, A.; Maher, E.; Mansour, S.; Marks, K.; Martin, K.; Maye, U.; McCann, E.; McConnell, V.; McEntagart, M.; McGowan, R.; McKay, K.; McKee, S.; McMullan, D. J.; McNerlan, S.; Mehta, S.; Metcalfe, K.; Miles, E.; Mohammed, S.; Montgomery, T.; Moore, D.; Morgan, S.; Morris, A.; Morton, J.; Mugalaasi, H.; Murday, V.; Nevitt, L.; Newbury-Ecob, R.; Norman, A.; OʼShea, R.; Ogilvie, C.; Park, S.; Parker, M. J.; Patel, C.; Paterson, J.; Payne, S.; Phipps, J.; Pilz, D. T.; Porteous, D.; Pratt, N.; Prescott, K.; Price, S.; Pridham, A.; Procter, A.; Purnell, H.; Ragge, N.; Rankin, J.; Raymond, L.; Rice, D.; Robert, L.; Roberts, E.; Roberts, G.; Roberts, J.; Roberts, P.; Ross, A.; Rosser, E.; Saggar, A.; Samant, S.; Sandford, R.; Sarkar, A.; Schweiger, S.; Scott, C.; Scott, R.; Selby, A.; Seller, A.; Sequeira, C.; Shannon, N.; Sharif, S.; Shaw-Smith, C.; Shearing, E.; Shears, D.; Simonic, I.; Simpkin, D.; Singzon, R.; Skitt, Z.; Smith, A.; Smith, B.; Smith, K.; Smithson, S.; Sneddon, L.; Splitt, M.; Squires, M.; Stewart, F.; Stewart, H.; Suri, M.; Sutton, V.; Swaminathan, G. J.; Sweeney, E.; Tatton-Brown, K.; Taylor, C.; Taylor, R.; Tein, M.; Temple, I. K.; Thomson, J.; Tolmie, J.; Torokwa, A.; Treacy, B.; Turner, C.; Turnpenny, P.; Tysoe, C.; Vandersteen, A.; Vasudevan, P.; Vogt, J.; Wakeling, E.; Walker, D.; Waters, J.; Weber, A.; Wellesley, D.; Whiteford, M.; Widaa, S.; Wilcox, S.; Williams, D.; Williams, N.; Woods, G.; Wragg, C.; Wright, M.; Yang, F.; Yau, M.; Carter, N. P.; Parker, M.; Firth, H. V.; FitzPatrick, D. R.; Wright, C. F.; Barrett, J. C.; Hurles, M. E.

Nature. Mar 12, 2015 519(7542):223-228

Eccles FJR; Division of Health Research, Faculty of Health and Medicine, Lancaster University, Lancaster, UK.; Craufurd D; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.; Smith A; Division of Health Research, Faculty of Health and Medicine, Lancaster University, Lancaster, UK.; Davies R; The Walton Centre NHS Foundation Trust, Liverpool, UK.; Glenny K; Division of Health Research, Faculty of Health and Medicine, Lancaster University, Lancaster, UK.; Homberger M; Division of Health Research, Faculty of Health and Medicine, Lancaster University, Lancaster, UK.; Rose L; Division of Health Research, Faculty of Health and Medicine, Lancaster University, Lancaster, UK.; Theed R; Division of Health Research, Faculty of Health and Medicine, Lancaster University, Lancaster, UK.; Peeren S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.; Rogers D; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.; Skitt Z; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.; Zarotti N; Division of Health Research, Faculty of Health and Medicine, Lancaster University, Lancaster, UK.; Simpson J; Division of Health Research, Faculty of Health and Medicine, Lancaster University, Lancaster, UK.

Publisher: SAGE Publications Country of Publication: United States NLM ID: 101589965 Publication Model: Print Cited Medium: Internet ISSN: 1879-6400 (Electronic) Linking ISSN: 18796397 NLM ISO Abbreviation: J Huntingtons Dis Subsets: MEDLINE

Eccles FJR; Division of Health Research, Faculty of Health and Medicine, Lancaster University, Lancaster, LA1 4YT UK.; Craufurd D; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, University of Manchester, Manchester, M13 9PL UK.; Manchester Centre for Genomic Medicine, Manchester Academic Health Science Centre, Manchester University NHS Foundation Trust, Oxford Road, Manchester, M13 9WL UK.; Smith A; Division of Health Research, Faculty of Health and Medicine, Lancaster University, Lancaster, LA1 4YT UK.; Davies R; The Walton Centre NHS Foundation Trust, Lower Lane, Fazakerley, Liverpool, L9 7LJ UK.; Glenny K; Division of Health Research, Faculty of Health and Medicine, Lancaster University, Lancaster, LA1 4YT UK.; Homberger M; Division of Health Research, Faculty of Health and Medicine, Lancaster University, Lancaster, LA1 4YT UK.; Peeren S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, University of Manchester, Manchester, M13 9PL UK.; Manchester Centre for Genomic Medicine, Manchester Academic Health Science Centre, Manchester University NHS Foundation Trust, Oxford Road, Manchester, M13 9WL UK.; Rogers D; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, University of Manchester, Manchester, M13 9PL UK.; Manchester Centre for Genomic Medicine, Manchester Academic Health Science Centre, Manchester University NHS Foundation Trust, Oxford Road, Manchester, M13 9WL UK.; Rose L; Division of Health Research, Faculty of Health and Medicine, Lancaster University, Lancaster, LA1 4YT UK.; Skitt Z; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, University of Manchester, Manchester, M13 9PL UK.; Manchester Centre for Genomic Medicine, Manchester Academic Health Science Centre, Manchester University NHS Foundation Trust, Oxford Road, Manchester, M13 9WL UK.; Theed R; Division of Health Research, Faculty of Health and Medicine, Lancaster University, Lancaster, LA1 4YT UK.; Simpson J; Division of Health Research, Faculty of Health and Medicine, Lancaster University, Lancaster, LA1 4YT UK.

Publisher: BioMed Central Country of Publication: England NLM ID: 101676536 Publication Model: eCollection Cited Medium: Print ISSN: 2055-5784 (Print) Linking ISSN: 20555784 NLM ISO Abbreviation: Pilot Feasibility Stud Subsets: PubMed not MEDLINE

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In: American Journal of Human Genetics. (American Journal of Human Genetics, 6 June 2019, 104(6):1210-1222)

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In: American Journal of Human Genetics. (American Journal of Human Genetics, 2 May 2019, 104(5):948-956)

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In: The Lancet Neurology. (The Lancet Neurology, February 2019, 18(2):165-176)

Schneider T; Experimental Psychology, University of Oxford, Oxford OX1 3UD, UK.; Skitt Z; Liu Y; Deacon RM; Flint J; Karmiloff-Smith A; Rawlins JN; Tassabehji M

Publisher: Elsevier/North-Holland Biomedical Press Country of Publication: Netherlands NLM ID: 8004872 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-7549 (Electronic) Linking ISSN: 01664328 NLM ISO Abbreviation: Behav Brain Res Subsets: MEDLINE

Snijders Blok, L.; Lelieveld, S.; Pfundt, R.; Jansen, S.; Kleefstra, T.; Brunner, H.G.; Deriziotis, P.; Fisher, S.E.; Rousseau, J.; Ehresmann, S.; Campeau, P.M.; Twist, J.; Takaku, M.; Taylor, C.; Roberts, J.D.; Petrovich, R.M.; Wade, P.A.; Venselaar, H.; Rodan, L.H.; Nowak, C.B.; Douglas, J.; Swoboda, K.J.; Steeves, M.A.; Sahai, I.; Stumpel, C.T.R.M.; Stegmann, A.P.A.; Wheeler, P.; Willing, M.; Fiala, E.; Kochhar, A.; Gibson, W.T.; Cohen, A.S.A.; Agbahovbe, R.; Innes, A.M.; Au, P.Y.B.; Rankin, J.; Anderson, I.J.; Skinner, S.A.; Louie, R.J.; Warren, H.E.; Afenjar, A.; Keren, B.; Nava, C.; Buratti, J.; Isapof, A.; Rodriguez, D.; Lewandowski, R.; Propst, J.; van Essen, T.; Choi, M.; Lee, S.; Chae, J.H.; Price, S.; Schnur, R.E.; Douglas, G.; Wentzensen, I.M.; Zweier, C.; Reis, A.; Bialer, M.G.; Moore, C.; Koopmans, M.; Brilstra, E.H.; Monroe, G.R.; van Gassen, K.L.I.; van Binsbergen, E.; Newbury-Ecob, R.; Bownass, L.; Bader, I.; Mayr, J.A.; Wortmann, S.B.; Jakielski, K.J.; Strand, E.A.; Kloth, K.; Bierhals, T.; Machida, S.; Kurumizaka, H.; Faivre, L.; Thevenon, J.; Assoum, M.; Shriberg, L.; McRae, J.F.; Clayton, S.; Fitzgerald, T.W.; Kaplanis, J.; Prigmore, E.; Rajan, D.; Sifrim, A.; Akawi, N.; Ambridge, K.; Barrett, D.M.; Bayzetinova, T.; Jones, P.; Jones, W.D.; King, D.; Krishnappa, N.; Mason, L.E.; Singh, T.; Tivey, A.R.; Awada, J.; Bevan, A.P.; Brent, S.; Chatzimichali, E.; Colgiu, I.; de Vries, D.; Gray, E.; Greene, P.; Gribble, S.; He, L.; Hildyard, L.; Hutton, B.; Kelsell, R.; Middleton, A.; Perrett, D.; Pollard, M.; Rahbari, R.; Randall, J.; Swaminathan, G.J.; Vijayarangakannan, P.; Widaa, S.; Wilkinson, E.; Firth, H.V.; Wright, C.F.; FitzPatrick, D.R.; Barrett, J.C.; Hurles, M.E.; Aitken, S.; Jackson, A.; Lam, W.; Lampe, A.; Maher, E.; Moore, D.; Alvi, M.; Ahmed, M.; Baralle, D.; Bunyan, D.J.; Collins, A.; Collinson, M.N.; Foulds, N.; Harrison, L.; Harrison, V.; Lachlan, K.; Temple, I.K.; Torokwa, A.; Wellesley, D.; Anjum, U.; Elmslie, F.; Homfray, T.; Mansour, S.; Marks, K.; McEntagart, M.; Saggar, A.; Tatton-Brown, K.; Taylor, R.; Archer, H.; Clarke, A.; Davies, S.; Evans, K.; Fry, A.; Kumar, D.; Morgan, S.; Mugalaasi, H.; Procter, A.; Sampson, J.; Varghese, V.; Armstrong, R.; Holden, S.; Mehta, S.; Park, S.-M.; Paterson, J.; Raymond, L.; Roberts, J.; Sandford, R.; Simonic, I.; Tischkowitz, M.; Treacy, B.; Wallwark, S.; Wilcox, S.; Woods, G.; Balasubramanian, M.; Ingram, S.; Johnson, D.; Nevitt, L.; Parker, M.J.; Quarrell, O.; Shearing, E.; Smith, K.; Banka, S.; Chandler, K.; Clayton-Smith, J.; Crow, Y.; Donnai, D.; Donnelly, C.; Douzgou, S.; Gaunt, L.; Jones, E.; Kerr, B.; Kingston, H.; Metcalfe, K.; Miles, E.; Murphy, H.; Skitt, Z.; Barnicoat, A.; Bitner-Glindzicz, M.; Brunstrom, K.; Hollingsworth, G.; Hurst, J.; Jenkins, L.; Kumar, V.K.A.; Lees, M.; Male, A.; Rosser, E.; Scott, R.; Waters, J.; Wilson, L.; Batstone, P.; D’Alessandro, M.; Dean, J.; McGowan, R.; McWilliam, C.; Miedzybrodzka, Z.; Ross, A.; Samant, S.; Baty, D.; Berg, J.; Goudie, D.; Pratt, N.; Rice, D.; Schweiger, S.; Bennett, C.; Blyth, M.; Coates, A.; Dobbie, A.; Hewitt, S.; Hobson, E.; Kraus, A.; Prescott, K.; Roberts, P.; Sheridan, E.; Smith, A.; Squires, M.; Thomson, J.; Bernhard, B.; Bourdon, L.; Brady, A.; Canham, N.; Clowes, V.; Ghali, N.; Holder, M.; Holder, S.; Payne, S.; Sequeira, C.; Singzon, R.; Vandersteen, A.; Wakeling, E.; Blair, E.; Cilliers, D.; Clasper, S.; Gibbons, R.; Kini, U.; Nemeth, A.; Phipps, J.; Poulton, J.; Pridham, A.; Purnell, H.; Seller, A.; Shears, D.; Stewart, H.; Bohanna, D.; Cole, T.; Cooper, N.; Cox, H.; Islam, L.; Jarvis, J.; Kirby, G.; Lim, D.; McKay, K.; McMullan, D.J.; Morton, J.; Naik, S.; Norman, A.; Ong, K.-R.; Patel, C.; Ragge, N.; Sharif, S.; Tein, M.; Vogt, J.; Williams, D.; Bourn, D.; Burn, J.; Fisher, R.; Goodship, J.; Hellens, S.; Henderson, A.; Montgomery, T.; Sneddon, L.; Splitt, M.; Straub, V.; Wright, M.; Yates, L.; Bradley, L.; Dabir, T.; Donnelly, D.; Humphreys, M.; Kirk, C.; Magee, A.; McConnell, V.; McKee, S.; McNerlan, S.; Stewart, F.; Brewer, C.; Castle, B.; Devlin, G.; Ellard, S.; Everest, S.; Kivuva, E.; Shaw-Smith, C.; Turner, C.; Turnpenny, P.; Tysoe, C.; Connell, F.; Deshpande, C.; Fendick, T.; Flinter, F.; Irving, M.; Josifova, D.; Langman, C.; Mohammed, S.; Ogilvie, C.; Robert, L.; Yau, M.; Cresswell, L.; Kaemba, B.; Kazembe, S.; Vasudevan, P.; Cross, G.; Dixit, A.; Eason, J.; Harrison, R.; Martin, K.; Sarkar, A.; Selby, A.; Shannon, N.; Suri, M.; Davidson, R.; Duncan, A.; Gardiner, C.; Joss, S.; Kinning, E.; Longman, C.; Lowther, G.; Murday, V.; Pilz, D.T.; Whiteford, M.; Williams, N.; Donaldson, A.; Hawkins, R.; Roberts, E.; Scurr, I.; Smithson, S.; Tomkins, S.; Wragg, C.; Douglas, A.; Ellis, I.; Fryer, A.; Greenhalgh, L.; Maye, U.; Roberts, G.; Sutton, V.; Sweeney, E.; Weber, A.; Gill, H.; Green, A.; Lynch, S.A.; O’Shea, R.; McCann, E.; Pottinger, C.; Nellåker, C.

In: Nature Communications. (Nature Communications, 1 December 2019, 10(1))

Blok, L.S.; Lelieveld, S.; Pfundt, R.; Jansen, S.; Kleefstra, T.; Brunner, H.G.; Deriziotis, P.; Fisher, S.E.; Rousseau, J.; Ehresmann, S.; Campeau, P.M.; Twist, J.; Takaku, M.; Taylor, C.; Roberts, J.D.; Petrovich, R.M.; Wade, P.A.; Venselaar, H.; Rodan, L.H.; Nowak, C.B.; Douglas, J.; Swoboda, K.J.; Steeves, M.A.; Sahai, I.; Stumpel, C.T.R.M.; Stegmann, A.P.A.; Wheeler, P.; Willing, M.; Fiala, E.; Kochhar, A.; Gibson, W.T.; Cohen, A.S.A.; Agbahovbe, R.; Innes, A.M.; Au, P.Y.B.; Rankin, J.; Anderson, I.J.; Skinner, S.A.; Louie, R.J.; Warren, H.E.; Afenjar, A.; Keren, B.; Nava, C.; Buratti, J.; Isapof, A.; Rodriguez, D.; Lewandowski, R.; Propst, J.; van Essen, T.; Choi, M.; Lee, S.; Chae, J.H.; Price, S.; Schnur, R.E.; Douglas, G.; Wentzensen, I.M.; Zweier, C.; Reis, A.; Bialer, M.G.; Moore, C.; Koopmans, M.; Brilstra, E.H.; Monroe, G.R.; van Gassen, K.L.I.; van Binsbergen, E.; Newbury-Ecob, R.; Bownass, L.; Bader, I.; Mayr, J.A.; Wortmann, S.B.; Jakielski, K.J.; Strand, E.A.; Kloth, K.; Bierhals, T.; Machida, S.; Kurumizaka, H.; Faivre, L.; Thevenon, J.; Assoum, M.; Shriberg, L.; McRae, J.F.; Clayton, S.; Fitzgerald, T.W.; Kaplanis, J.; Prigmore, E.; Rajan, D.; Sifrim, A.; Akawi, N.; Ambridge, K.; Barrett, D.M.; Bayzetinova, T.; Jones, P.; Jones, W.D.; King, D.; Krishnappa, N.; Mason, L.E.; Singh, T.; Tivey, A.R.; Awada, J.; Bevan, A.P.; Brent, S.; Chatzimichali, E.; Colgiu, I.; Colgiu, I.; de Vries, D.; Gray, E.; Greene, P.; Gribble, S.; He, L.; Hildyard, L.; Hutton, B.; Kelsell, R.; Middleton, A.; Perrett, D.; Pollard, M.; Rahbari, R.; Randall, J.; Swaminathan, G.J.; Vijayarangakannan, P.; Widaa, S.; Wilkinson, E.; Firth, H.V.; Wright, C.F.; FitzPatrick, D.R.; Barrett, J.C.; Hurles, M.E.; Aitken, S.; Jackson, A.; Lam, W.; Lampe, A.; Maher, E.; Moore, D.; Alvi, M.; Ahmed, M.; Baralle, D.; Bunyan, D.J.; Collins, A.; Collinson, M.N.; Collins, A.; Collinson, M.N.; Foulds, N.; Harrison, L.; Harrison, V.; Lachlan, K.; Temple, I.K.; Torokwa, A.; Wellesley, D.; Anjum, U.; Elmslie, F.; Homfray, T.; Mansour, S.; Marks, K.; McEntagart, M.; Saggar, A.; Tatton-Brown, K.; Taylor, R.; Archer, H.; Clarke, A.; Davies, S.; Evans, K.; Fry, A.; Kumar, D.; Morgan, S.; Mugalaasi, H.; Procter, A.; Sampson, J.; Varghese, V.; Armstrong, R.; Holden, S.; Mehta, S.; Park, S.-M.; Paterson, J.; Raymond, L.; Roberts, J.; Sandford, R.; Simonic, I.; Tischkowitz, M.; Treacy, B.; Wallwark, S.; Wilcox, S.; Woods, G.; Balasubramanian, M.; Ingram, S.; Johnson, D.; Nevitt, L.; Parker, M.J.; Quarrell, O.; Shearing, E.; Smith, K.; Banka, S.; Chandler, K.; Clayton-Smith, J.; Clayton-Smith, J.; Crow, Y.; Donnai, D.; Donnelly, C.; Douzgou, S.; Gaunt, L.; Jones, E.; Kerr, B.; Kingston, H.; Metcalfe, K.; Miles, E.; Murphy, H.; Skitt, Z.; Barnicoat, A.; Bitner-Glindzicz, M.; Brunstrom, K.; Hollingsworth, G.; Hurst, J.; Jenkins, L.; Kumar, V.K.A.; Lees, M.; Male, A.; Rosser, E.; Scott, R.; Waters, J.; Wilson, L.; Batstone, P.; D’Alessandro, M.; Dean, J.; McGowan, R.; McWilliam, C.; Miedzybrodzka, Z.; Ross, A.; Samant, S.; Baty, D.; Berg, J.; Goudie, D.; Pratt, N.; Rice, D.; Schweiger, S.; Bennett, C.; Blyth, M.; Coates, A.; Coates, A.; Dobbie, A.; Hewitt, S.; Hobson, E.; Kraus, A.; Prescott, K.; Roberts, P.; Sheridan, E.; Smith, A.; Squires, M.; Thomson, J.; Bernhard, B.; Bourdon, L.; Brady, A.; Canham, N.; Clowes, V.; Clowes, V.; Ghali, N.; Holder, M.; Holder, S.; Payne, S.; Sequeira, C.; Singzon, R.; Vandersteen, A.; Wakeling, E.; Blair, E.; Cilliers, D.; Clasper, S.; Gibbons, R.; Kini, U.; Nemeth, A.; Phipps, J.; Poulton, J.; Pridham, A.; Purnell, H.; Seller, A.; Shears, D.; Stewart, H.; Bohanna, D.; Cole, T.; Cooper, N.; Cox, H.; Cole, T.; Cooper, N.; Cox, H.; Islam, L.; Jarvis, J.; Kirby, G.; Lim, D.; McKay, K.; McMullan, D.J.; Morton, J.; Naik, S.; Norman, A.; Ong, K.-R.; Patel, C.; Ragge, N.; Sharif, S.; Tein, M.; Vogt, J.; Williams, D.; Bourn, D.; Burn, J.; Fisher, R.; Goodship, J.; Hellens, S.; Henderson, A.; Montgomery, T.; Sneddon, L.; Splitt, M.; Straub, V.; Wright, M.; Yates, L.; Bradley, L.; Dabir, T.; Donnelly, D.; Humphreys, M.; Kirk, C.; Magee, A.; McConnell, V.; McKee, S.; McNerlan, S.; Stewart, F.; Brewer, C.; Castle, B.; Devlin, G.; Ellard, S.; Everest, S.; Kivuva, E.; Shaw-Smith, C.; Turner, C.; Turnpenny, P.; Tysoe, C.; Connell, F.; Connell, F.; Deshpande, C.; Fendick, T.; Flinter, F.; Irving, M.; Josifova, D.; Langman, C.; Mohammed, S.; Ogilvie, C.; Robert, L.; Yau, M.; Cresswell, L.; Cresswell, L.; Kaemba, B.; Kazembe, S.; Vasudevan, P.; Cross, G.; Cross, G.; Dixit, A.; Eason, J.; Harrison, R.; Martin, K.; Sarkar, A.; Selby, A.; Shannon, N.; Suri, M.; Davidson, R.; Duncan, A.; Gardiner, C.; Joss, S.; Kinning, E.; Longman, C.; Lowther, G.; Murday, V.; Pilz, D.T.; Whiteford, M.; Williams, N.; Donaldson, A.; Hawkins, R.; Roberts, E.; Scurr, I.; Smithson, S.; Tomkins, S.; Wragg, C.; Douglas, A.; Ellis, I.; Fryer, A.; Greenhalgh, L.; Maye, U.; Roberts, G.; Sutton, V.; Sweeney, E.; Weber, A.; Gill, H.; Green, A.; Lynch, S.A.; O’Shea, R.; McCann, E.; Pottinger, C.; Nellåker, C.; Parker, M.

In: Nature Communications. (Nature Communications, 1 December 2019, 10(1))

Gerczak, T.J.; Hunn, J.D.; Burns, Z.; Skitt, D.J.

In: Transactions of the American Nuclear Society, Transactions of the American Nuclear Society, ANS 2019. (Transactions of the American Nuclear Society, 2019, 121:622-623)

Snijders Blok L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, 6500AH, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, 6500HE, The Netherlands.; Rousseau J; CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.; Twist J; National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.; Ehresmann S; CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.; Takaku M; National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.; Venselaar H; Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Nowak CB; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Douglas J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Swoboda KJ; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.; Steeves MA; Department of Medical Genetics, Massachusetts General Hospital, Boston, MA 02114, USA.; Sahai I; Department of Medical Genetics, Massachusetts General Hospital, Boston, MA 02114, USA.; Stumpel CTRM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, 6202AZ, The Netherlands.; Stegmann APA; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, 6202AZ, The Netherlands.; Wheeler P; Nemours Childrens Clinic, Orlando, FL 32827, USA.; Willing M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.; Fiala E; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.; Kochhar A; Valley Children's Hospital, Madera, CA 93636, USA.; Gibson WT; British Columbia Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.; Cohen ASA; British Columbia Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.; Agbahovbe R; British Columbia Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.; Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.; Au PYB; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.; Rankin J; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust (Heavitree), Exeter, EX2 5DW, UK.; Anderson IJ; Division of Genetics, Department of Medicine, University of Tennessee Medical Center, Knoxville, TN 37920, USA.; Skinner SA; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Louie RJ; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Warren HE; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Afenjar A; GRC ConCer-LD, Sorbonne Universités, UPMC Univ Paris ; Department of Medical Genetics and Centre de Référence Malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, Armand Trousseau Hospital, GHUEP, AP-HP, Paris, 75012, France.; Keren B; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, 75013, France.; Groupe de Recherche Clinique (GRC) 'déficience intellectuelle et autisme' UPMC, Paris, 75005, France.; Nava C; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, 75013, France.; Groupe de Recherche Clinique (GRC) 'déficience intellectuelle et autisme' UPMC, Paris, 75005, France.; INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, 75013, Paris, France.; Buratti J; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, 75013, France.; Isapof A; GRC ConCer-LD, Sorbonne Universités, UPMC Univ Paris 06; Department Child Neurology and Reference Center for Neuromuscular Diseases 'Nord/Est/Ile-de-France', FILNEMUS, Armand Trousseau Hospital, GHUEP, AP-HP, Paris, 75012, France.; Rodriguez D; GRC ConCer-LD, Sorbonne Universités, UPMC Univ Paris 06; Department of Child Neurology and National Reference Center for Neurogenetic Disorders, Armand Trousseau Hospital, GHUEP, AP-HP, INSERM U1141, 75012, Paris, France.; Lewandowski R; Clinical Genetics Division, Virginia Commonwealth University Health System, Richmond, VA 23298, USA.; Propst J; Clinical Genetics Division, Virginia Commonwealth University Health System, Richmond, VA 23298, USA.; van Essen T; Clinical Genetics Department, University Medical Center Groningen, Groningen, 9700RB, The Netherlands.; Choi M; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 08826, Republic of Korea.; Lee S; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 08826, Republic of Korea.; Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, 08826, Republic of Korea.; Price S; Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7HE, UK.; Schnur RE; GeneDx, Gaithersburg, MD 20877, USA.; Douglas G; GeneDx, Gaithersburg, MD 20877, USA.; Wentzensen IM; GeneDx, Gaithersburg, MD 20877, USA.; Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, 91054, Germany.; Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, 91054, Germany.; Bialer MG; Northwell Health, Division of Medical Genetics and Genomics, Great Neck, NY 11021, USA.; Moore C; Northwell Health, Division of Medical Genetics and Genomics, Great Neck, NY 11021, USA.; Koopmans M; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.; Brilstra EH; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.; Monroe GR; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.; van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.; van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.; Newbury-Ecob R; University Hospitals Bristol, Department of Clinical Genetics, St Michael's Hospital, Bristol, BS2 8EG, UK.; Bownass L; University Hospitals Bristol, Department of Clinical Genetics, St Michael's Hospital, Bristol, BS2 8EG, UK.; Bader I; Department of Clinical Genetics, University Children's Hospital, Paracelsus Medical University, Salzburg, A-5020, Austria.; Mayr JA; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, A-5020, Austria.; Wortmann SB; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, A-5020, Austria.; Institute of Human Genetics, Technische Universität München, Munich, 81675, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, 85764, Germany.; Jakielski KJ; Communication Sciences and Disorders, Augustana College, Rock Island, IL 61201, USA.; Strand EA; Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.; Kloth K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, 20246, Germany.; Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, 20246, Germany.; Roberts JD; National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.; Petrovich RM; National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.; Machida S; Waseda University, Tokyo, 169-8050, Japan.; Kurumizaka H; Waseda University, Tokyo, 169-8050, Japan.; Lelieveld S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Jansen S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, 6500HE, The Netherlands.; Deriziotis P; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, 6500AH, The Netherlands.; Faivre L; Equipe Génétique des Anomalies du Développement, Université de Bourgogne-Franche Comté, Dijon, 21070, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon et Université de Bourgogne, Dijon, 21079, France.; Thevenon J; Equipe Génétique des Anomalies du Développement, Université de Bourgogne-Franche Comté, Dijon, 21070, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon et Université de Bourgogne, Dijon, 21079, France.; Assoum M; Equipe Génétique des Anomalies du Développement, Université de Bourgogne-Franche Comté, Dijon, 21070, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon et Université de Bourgogne, Dijon, 21079, France.; Shriberg L; Waisman Center, Phonology Project, Madison, WI 53705-2280, USA.; Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, 6500HE, The Netherlands.; Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, 6500HE, The Netherlands.; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, 6202AZ, The Netherlands.; Wade PA; National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.; Fisher SE; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, 6500AH, The Netherlands. simon.fisher@mpi.nl.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, 6500HE, The Netherlands. simon.fisher@mpi.nl.; Campeau PM; CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada. p.campeau@umontreal.ca.; Sainte-Justine Hospital, University of Montreal, Montreal, QC H3T 1C5, Canada. p.campeau@umontreal.ca.

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

Faundes V; Manchester Centre for Genomic Medicine, Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos , Universidad de Chile, Santiago 7830490, Chile.; Newman WG; Manchester Centre for Genomic Medicine, Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.; Bernardini L; Cytogenetics Unit, Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo FG 71013, Italy.; Canham N; North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Northwick Park Hospital, Watford Road, Harrow HA1 3UJ, UK.; Clayton-Smith J; Manchester Centre for Genomic Medicine, Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.; Dallapiccola B; Scientific Directorate, Bambino Gesù Children's Hospital, IRCCS, Rome 00146, Italy.; Davies SJ; Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, UK.; Demos MK; Division of Pediatric Neurology, Department of Pediatrics, University of British Columbia, Vancouver, BC V6H 3V4, Canada.; Goldman A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.; Gill H; Department of Medical Genetics, Children's and Women's Health Centre of British Columbia, Vancouver, BC V6H 3N1, Canada.; Horton R; Wessex Clinical Genetics Service and Division of Human Genetics, Princess Anne Hospital, Southampton SO16 5YA, UK.; Kerr B; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.; Kumar D; Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, UK.; Lehman A; Department of Medical Genetics, Children's and Women's Health Centre of British Columbia, Vancouver, BC V6H 3N1, Canada.; McKee S; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast HSC Trust, Belfast BT9 7AB, UK.; Morton J; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham B15 2TG, UK.; Parker MJ; Sheffield Clinical Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK.; Rankin J; Peninsula Clinical Genetics Service, Exeter EX1 2ED, UK.; Robertson L; North of Scotland Regional Genetics Service, NHS Grampian, Department of Medical Genetics Medical School, Foresterhill, Aberdeen, AB25 2ZD, UK.; Temple IK; Wessex Clinical Genetics Service and Division of Human Genetics, Princess Anne Hospital, Southampton SO16 5YA, UK.; Banka S; Manchester Centre for Genomic Medicine, Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK. Electronic address: siddharth.banka@manchester.ac.uk.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Sadleir LG; From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Denver; Department of Neurology (C.D.V., M.A.K.), Great Ormond Street Hospital for Children; Developmental Neurosciences (M.A.K.), UCL Great Ormond Street Institute of Child Health, London; Wellcome Trust Sanger Institute (DDD Study Group), Hinxton, Cambridge, UK; Departments of Paediatrics and Radiology (S.M.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (S.M., I.E.S.); Department of Medical Imaging (S.M.), Royal Children's Hospital, Melbourne, Australia; Department of Neurology (E.W., K.C.N.), Mayo Clinic, Rochester, MN; Department of Neurology (H.R.M.), Marshfield Clinic, WI; Division of Genetic Medicine (G.C., C.T.M., H.C.M.), Department of Pediatrics, University of Washington, Seattle; and Departments of Medicine and Paediatrics (I.E.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Australia. lynette.sadleir@otago.ac.nz scheffer@unimelb.edu.au.; Mountier EI; From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Denver; Department of Neurology (C.D.V., M.A.K.), Great Ormond Street Hospital for Children; Developmental Neurosciences (M.A.K.), UCL Great Ormond Street Institute of Child Health, London; Wellcome Trust Sanger Institute (DDD Study Group), Hinxton, Cambridge, UK; Departments of Paediatrics and Radiology (S.M.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (S.M., I.E.S.); Department of Medical Imaging (S.M.), Royal Children's Hospital, Melbourne, Australia; Department of Neurology (E.W., K.C.N.), Mayo Clinic, Rochester, MN; Department of Neurology (H.R.M.), Marshfield Clinic, WI; Division of Genetic Medicine (G.C., C.T.M., H.C.M.), Department of Pediatrics, University of Washington, Seattle; and Departments of Medicine and Paediatrics (I.E.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Australia.; Gill D; From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Denver; Department of Neurology (C.D.V., M.A.K.), Great Ormond Street Hospital for Children; Developmental Neurosciences (M.A.K.), UCL Great Ormond Street Institute of Child Health, London; Wellcome Trust Sanger Institute (DDD Study Group), Hinxton, Cambridge, UK; Departments of Paediatrics and Radiology (S.M.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (S.M., I.E.S.); Department of Medical Imaging (S.M.), Royal Children's Hospital, Melbourne, Australia; Department of Neurology (E.W., K.C.N.), Mayo Clinic, Rochester, MN; Department of Neurology (H.R.M.), Marshfield Clinic, WI; Division of Genetic Medicine (G.C., C.T.M., H.C.M.), Department of Pediatrics, University of Washington, Seattle; and Departments of Medicine and Paediatrics (I.E.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Australia.; Davis S; From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Denver; Department of Neurology (C.D.V., M.A.K.), Great Ormond Street Hospital for Children; Developmental Neurosciences (M.A.K.), UCL Great Ormond Street Institute of Child Health, London; Wellcome Trust Sanger Institute (DDD Study Group), Hinxton, Cambridge, UK; Departments of Paediatrics and Radiology (S.M.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (S.M., I.E.S.); Department of Medical Imaging (S.M.), Royal Children's Hospital, Melbourne, Australia; Department of Neurology (E.W., K.C.N.), Mayo Clinic, Rochester, MN; Department of Neurology (H.R.M.), Marshfield Clinic, WI; Division of Genetic Medicine (G.C., C.T.M., H.C.M.), Department of Pediatrics, University of Washington, Seattle; and Departments of Medicine and Paediatrics (I.E.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Australia.; Joshi C; From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Denver; Department of Neurology (C.D.V., M.A.K.), Great Ormond Street Hospital for Children; Developmental Neurosciences (M.A.K.), UCL Great Ormond Street Institute of Child Health, London; Wellcome Trust Sanger Institute (DDD Study Group), Hinxton, Cambridge, UK; Departments of Paediatrics and Radiology (S.M.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (S.M., I.E.S.); Department of Medical Imaging (S.M.), Royal Children's Hospital, Melbourne, Australia; Department of Neurology (E.W., K.C.N.), Mayo Clinic, Rochester, MN; Department of Neurology (H.R.M.), Marshfield Clinic, WI; Division of Genetic Medicine (G.C., C.T.M., H.C.M.), Department of Pediatrics, University of Washington, Seattle; and Departments of Medicine and Paediatrics (I.E.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Australia.; DeVile C; From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Denver; Department of Neurology (C.D.V., M.A.K.), Great Ormond Street Hospital for Children; Developmental Neurosciences (M.A.K.), UCL Great Ormond Street Institute of Child Health, London; Wellcome Trust Sanger Institute (DDD Study Group), Hinxton, Cambridge, UK; Departments of Paediatrics and Radiology (S.M.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (S.M., I.E.S.); Department of Medical Imaging (S.M.), Royal Children's Hospital, Melbourne, Australia; Department of Neurology (E.W., K.C.N.), Mayo Clinic, Rochester, MN; Department of Neurology (H.R.M.), Marshfield Clinic, WI; Division of Genetic Medicine (G.C., C.T.M., H.C.M.), Department of Pediatrics, University of Washington, Seattle; and Departments of Medicine and Paediatrics (I.E.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Australia.; Kurian MA; From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Denver; Department of Neurology (C.D.V., M.A.K.), Great Ormond Street Hospital for Children; Developmental Neurosciences (M.A.K.), UCL Great Ormond Street Institute of Child Health, London; Wellcome Trust Sanger Institute (DDD Study Group), Hinxton, Cambridge, UK; Departments of Paediatrics and Radiology (S.M.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (S.M., I.E.S.); Department of Medical Imaging (S.M.), Royal Children's Hospital, Melbourne, Australia; Department of Neurology (E.W., K.C.N.), Mayo Clinic, Rochester, MN; Department of Neurology (H.R.M.), Marshfield Clinic, WI; Division of Genetic Medicine (G.C., C.T.M., H.C.M.), Department of Pediatrics, University of Washington, Seattle; and Departments of Medicine and Paediatrics (I.E.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Australia.; Mandelstam S; From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Denver; Department of Neurology (C.D.V., M.A.K.), Great Ormond Street Hospital for Children; Developmental Neurosciences (M.A.K.), UCL Great Ormond Street Institute of Child Health, London; Wellcome Trust Sanger Institute (DDD Study Group), Hinxton, Cambridge, UK; Departments of Paediatrics and Radiology (S.M.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (S.M., I.E.S.); Department of Medical Imaging (S.M.), Royal Children's Hospital, Melbourne, Australia; Department of Neurology (E.W., K.C.N.), Mayo Clinic, Rochester, MN; Department of Neurology (H.R.M.), Marshfield Clinic, WI; Division of Genetic Medicine (G.C., C.T.M., H.C.M.), Department of Pediatrics, University of Washington, Seattle; and Departments of Medicine and Paediatrics (I.E.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Australia.; Wirrell E; From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Denver; Department of Neurology (C.D.V., M.A.K.), Great Ormond Street Hospital for Children; Developmental Neurosciences (M.A.K.), UCL Great Ormond Street Institute of Child Health, London; Wellcome Trust Sanger Institute (DDD Study Group), Hinxton, Cambridge, UK; Departments of Paediatrics and Radiology (S.M.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (S.M., I.E.S.); Department of Medical Imaging (S.M.), Royal Children's Hospital, Melbourne, Australia; Department of Neurology (E.W., K.C.N.), Mayo Clinic, Rochester, MN; Department of Neurology (H.R.M.), Marshfield Clinic, WI; Division of Genetic Medicine (G.C., C.T.M., H.C.M.), Department of Pediatrics, University of Washington, Seattle; and Departments of Medicine and Paediatrics (I.E.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Australia.; Nickels KC; From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Denver; Department of Neurology (C.D.V., M.A.K.), Great Ormond Street Hospital for Children; Developmental Neurosciences (M.A.K.), UCL Great Ormond Street Institute of Child Health, London; Wellcome Trust Sanger Institute (DDD Study Group), Hinxton, Cambridge, UK; Departments of Paediatrics and Radiology (S.M.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (S.M., I.E.S.); Department of Medical Imaging (S.M.), Royal Children's Hospital, Melbourne, Australia; Department of Neurology (E.W., K.C.N.), Mayo Clinic, Rochester, MN; Department of Neurology (H.R.M.), Marshfield Clinic, WI; Division of Genetic Medicine (G.C., C.T.M., H.C.M.), Department of Pediatrics, University of Washington, Seattle; and Departments of Medicine and Paediatrics (I.E.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Australia.; Murali HR; From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Denver; Department of Neurology (C.D.V., M.A.K.), Great Ormond Street Hospital for Children; Developmental Neurosciences (M.A.K.), UCL Great Ormond Street Institute of Child Health, London; Wellcome Trust Sanger Institute (DDD Study Group), Hinxton, Cambridge, UK; Departments of Paediatrics and Radiology (S.M.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (S.M., I.E.S.); Department of Medical Imaging (S.M.), Royal Children's Hospital, Melbourne, Australia; Department of Neurology (E.W., K.C.N.), Mayo Clinic, Rochester, MN; Department of Neurology (H.R.M.), Marshfield Clinic, WI; Division of Genetic Medicine (G.C., C.T.M., H.C.M.), Department of Pediatrics, University of Washington, Seattle; and Departments of Medicine and Paediatrics (I.E.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Australia.; Carvill G; From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Denver; Department of Neurology (C.D.V., M.A.K.), Great Ormond Street Hospital for Children; Developmental Neurosciences (M.A.K.), UCL Great Ormond Street Institute of Child Health, London; Wellcome Trust Sanger Institute (DDD Study Group), Hinxton, Cambridge, UK; Departments of Paediatrics and Radiology (S.M.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (S.M., I.E.S.); Department of Medical Imaging (S.M.), Royal Children's Hospital, Melbourne, Australia; Department of Neurology (E.W., K.C.N.), Mayo Clinic, Rochester, MN; Department of Neurology (H.R.M.), Marshfield Clinic, WI; Division of Genetic Medicine (G.C., C.T.M., H.C.M.), Department of Pediatrics, University of Washington, Seattle; and Departments of Medicine and Paediatrics (I.E.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Australia.; Myers CT; From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Denver; Department of Neurology (C.D.V., M.A.K.), Great Ormond Street Hospital for Children; Developmental Neurosciences (M.A.K.), UCL Great Ormond Street Institute of Child Health, London; Wellcome Trust Sanger Institute (DDD Study Group), Hinxton, Cambridge, UK; Departments of Paediatrics and Radiology (S.M.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (S.M., I.E.S.); Department of Medical Imaging (S.M.), Royal Children's Hospital, Melbourne, Australia; Department of Neurology (E.W., K.C.N.), Mayo Clinic, Rochester, MN; Department of Neurology (H.R.M.), Marshfield Clinic, WI; Division of Genetic Medicine (G.C., C.T.M., H.C.M.), Department of Pediatrics, University of Washington, Seattle; and Departments of Medicine and Paediatrics (I.E.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Australia.; Mefford HC; From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Denver; Department of Neurology (C.D.V., M.A.K.), Great Ormond Street Hospital for Children; Developmental Neurosciences (M.A.K.), UCL Great Ormond Street Institute of Child Health, London; Wellcome Trust Sanger Institute (DDD Study Group), Hinxton, Cambridge, UK; Departments of Paediatrics and Radiology (S.M.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (S.M., I.E.S.); Department of Medical Imaging (S.M.), Royal Children's Hospital, Melbourne, Australia; Department of Neurology (E.W., K.C.N.), Mayo Clinic, Rochester, MN; Department of Neurology (H.R.M.), Marshfield Clinic, WI; Division of Genetic Medicine (G.C., C.T.M., H.C.M.), Department of Pediatrics, University of Washington, Seattle; and Departments of Medicine and Paediatrics (I.E.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Australia.; Scheffer IE; From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Denver; Department of Neurology (C.D.V., M.A.K.), Great Ormond Street Hospital for Children; Developmental Neurosciences (M.A.K.), UCL Great Ormond Street Institute of Child Health, London; Wellcome Trust Sanger Institute (DDD Study Group), Hinxton, Cambridge, UK; Departments of Paediatrics and Radiology (S.M.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (S.M., I.E.S.); Department of Medical Imaging (S.M.), Royal Children's Hospital, Melbourne, Australia; Department of Neurology (E.W., K.C.N.), Mayo Clinic, Rochester, MN; Department of Neurology (H.R.M.), Marshfield Clinic, WI; Division of Genetic Medicine (G.C., C.T.M., H.C.M.), Department of Pediatrics, University of Washington, Seattle; and Departments of Medicine and Paediatrics (I.E.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Australia. lynette.sadleir@otago.ac.nz scheffer@unimelb.edu.au.

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

Mircsof D; Chronobiology and Sleep Research Group, Institute of Pharmacology and Toxicology, University of Zürich, Zürich, Switzerland.; Neuromorphology Group, Institute of Pharmacology and Toxicology, University of Zürich, Zürich, Switzerland.; Langouët M; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.; Rio M; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.; Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.; Moutton S; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.; Siquier-Pernet K; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.; Bole-Feysot C; Genomic Platform, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.; Cagnard N; Bioinformatic Platform, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.; Nitschke P; Bioinformatic Platform, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.; Gaspar L; Chronobiology and Sleep Research Group, Institute of Pharmacology and Toxicology, University of Zürich, Zürich, Switzerland.; Žnidarič M; Chronobiology and Sleep Research Group, Institute of Pharmacology and Toxicology, University of Zürich, Zürich, Switzerland.; Alibeu O; Genomic Platform, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.; Fritz AK; Institute of Anatomy, University of Zürich and Institute of Human Movement Sciences and Sport, ETH Zürich, Switzerland.; Wolfer DP; Institute of Anatomy, University of Zürich and Institute of Human Movement Sciences and Sport, ETH Zürich, Switzerland.; Schröter A; Molecular Imaging and Functional Pharmacology Group, University of Zürich, Zürich, Switzerland.; Bosshard G; Neuromorphology Group, Institute of Pharmacology and Toxicology, University of Zürich, Zürich, Switzerland.; Rudin M; Molecular Imaging and Functional Pharmacology Group, University of Zürich, Zürich, Switzerland.; Koester C; Neuromorphology Group, Institute of Pharmacology and Toxicology, University of Zürich, Zürich, Switzerland.; Crestani F; Neuromorphology Group, Institute of Pharmacology and Toxicology, University of Zürich, Zürich, Switzerland.; Seebeck P; Center for Integrative Rodent Physiology, University of Zürich, Zürich, Switzerland.; Boddaert N; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.; Service de radiologie pédiatrique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.; Prescott K; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals National Health Service Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds, UK.; Hines R; Tufts University, Sackler School of Graduate Biomedical Sciences, Boston, Massachusetts, USA.; Moss SJ; Tufts University, Sackler School of Graduate Biomedical Sciences, Boston, Massachusetts, USA.; Fritschy JM; Neuromorphology Group, Institute of Pharmacology and Toxicology, University of Zürich, Zürich, Switzerland.; Munnich A; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.; Amiel J; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.; Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.; Brown SA; Chronobiology and Sleep Research Group, Institute of Pharmacology and Toxicology, University of Zürich, Zürich, Switzerland.; Tyagarajan SK; Neuromorphology Group, Institute of Pharmacology and Toxicology, University of Zürich, Zürich, Switzerland.; Colleaux L; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.

Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9809671 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1726 (Electronic) Linking ISSN: 10976256 NLM ISO Abbreviation: Nat Neurosci Subsets: MEDLINE

Wright CF; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK. Electronic address: caroline.wright@sanger.ac.uk.; Fitzgerald TW; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Jones WD; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Clayton S; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; McRae JF; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; van Kogelenberg M; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; King DA; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Ambridge K; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Barrett DM; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Bayzetinova T; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Bevan AP; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Bragin E; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Chatzimichali EA; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Gribble S; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Jones P; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Krishnappa N; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Mason LE; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Miller R; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Morley KI; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK; Institute of Psychiatry, King's College London, London, UK; Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC, Australia.; Parthiban V; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Prigmore E; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Rajan D; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Sifrim A; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Swaminathan GJ; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Tivey AR; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Middleton A; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Parker M; The Ethox Centre, Nuffield Department of Population Health University of Oxford, Old Road Campus, Oxford, UK.; Carter NP; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Barrett JC; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Hurles ME; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; FitzPatrick DR; MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, WGH, Edinburgh, UK.; Firth HV; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK; Cambridge University Hospitals Foundation Trust, Addenbrooke's Hospital, Cambridge, UK.

Publisher: Elsevier Country of Publication: England NLM ID: 2985213R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1474-547X (Electronic) Linking ISSN: 01406736 NLM ISO Abbreviation: Lancet Subsets: MEDLINE