BetterScholar BetterScholar
10
Role
Title
Level Year L/R
🐜 Prevalence and architecture of de novo mutations in developmental disorders
302 auth. J. McRae, Stephen Clayton, Tomas W. Fitzgerald, J. Kaplanis, E. Prigmore, D. Rajan, A. Sifrim, Stuart Aitken, N. Akawi, M. Alvi, K. Ambridge, D. Barrett, T. Bayzetinova, P. Jones, W. Jones, ... D. King, N. Krishnappa, L. E. Mason, T. Singh, A. Tivey, Munaza Ahmed, U. Anjum, H. Archer, R. Armstrong, J. Awada, M. Balasubramanian, S. Banka, D. Baralle, A. Barnicoat, Paul Batstone, D. Baty, C. Bennett, J. Berg, B. Bernhard, A. P. Bevan, M. Bitner-Glindzicz, Edward Blair, Moira Blyth, D. Bohanna, L. Bourdon, D. Bourn, L. Bradley, A. Brady, Simon Brent, C. Brewer, K. Brunstrom, D. Bunyan, J. Burn, N. Canham, B. Castle, K. Chandler, Elena Chatzimichali, D. Cilliers, Angus Clarke, S. Clasper, J. Clayton-Smith, V. Clowes, A. Coates, Trevor Cole, Irina Colgiu, Amanda Collins, M. Collinson, F. Connell, N. Cooper, H. Cox, L. Cresswell, G. Cross, Yanick J. Crow, Mariella D’Alessandro, T. Dabir, R. Davidson, Sally J Davies, Dylan de Vries, J. Dean, C. Deshpande, G. Devlin, A. Dixit, A. Dobbie, A. Donaldson, D. Donnai, D. Donnelly, C. Donnelly, Angela Douglas, S. Douzgou, A. Duncan, J. Eason, S. Ellard, Ian Ellis, F. Elmslie, K. Evans, S. Everest, T. Fendick, R. Fisher, F. Flinter, N. Foulds, A. Fry, A. Fryer, C. Gardiner, L. Gaunt, N. Ghali, Richard J. Gibbons, H. Gill, J. Goodship, D. Goudie, Emma V. Gray, A. Green, P. Greene, L. Greenhalgh, S. Gribble, R. Harrison, L. Harrison, V. Harrison, R. Hawkins, Liu He, S. Hellens, A. Henderson, S. Hewitt, Lucy Hildyard, E. Hobson, S. Holden, M. Holder, S. Holder, G. Hollingsworth, T. Homfray, M. Humphreys, J. Hurst, Ben Hutton, S. Ingram, M. Irving, L. Islam, Andrew Jackson, J. Jarvis, L. Jenkins, Diana S. Johnson, Elizabeth Jones, D. Josifova, S. Joss, B. Kaemba, S. Kazembe, Rosemary Kelsell, B. Kerr, Helen Kingston, U. Kini, E. Kinning, G. Kirby, C. Kirk, E. Kivuva, A. Kraus, Dhavendra Kumar, V. K. A. Kumar, K. Lachlan, W. Lam, A. Lampe, C. Langman, M. Lees, D. Lim, C. Longman, G. Lowther, S. Lynch, A. Magee, E. Maher, Alison M. Male, S. Mansour, K. Marks, K. Martin, U. Maye, E. McCann, V. Mcconnell, M. McEntagart, Ruth McGowan, Kirsten McKay, S. McKee, D. McMullan, S. McNerlan, C. Mcwilliam, S. Mehta, K. Metcalfe, Anna Middleton, Z. Miedzybrodzka, E. Miles, S. Mohammed, T. Montgomery, D. Moore, S. Morgan, J. Morton, H. Mugalaasi, V. Murday, Helen R Murphy, S. Naik, Andrea M. Nemeth, L. Nevitt, R. Newbury-Ecob, Andrew Norman, R. O’Shea, C. Ogilvie, K. Ong, Soo-Mi Park, M. Parker, C. Patel, J. Paterson, Stewart Payne, D. Perrett, J. Phipps, D. Pilz, M. Pollard, C. Pottinger, Joanna Poulton, N. Pratt, K. Prescott, S. Price, A. Pridham, A. Procter, H. Purnell, O. Quarrell, N. Ragge, R. Rahbari, Joshua C Randall, Julia Rankin, L. Raymond, D. Rice, L. Robert, E. Roberts, Jonathan Roberts, P. Roberts, G. Roberts, A. Ross, E. Rosser, A. Saggar, Shalaka Samant, Julian Sampson, R. Sandford, A. Sarkar, Susann Schweiger, R. Scott, I. Scurr, A. Selby, A. Seller, C. Sequeira, N. Shannon, S. Sharif, C. Shaw-Smith, E. Shearing, Debbie Shears, Eamonn Sheridan, I. Simonic, R. Singzon, Z. Skitt, Audrey Smith, Kath Smith, S. Smithson, L. Sneddon, M. Splitt, M. Squires, Fiona J Stewart, Helen Stewart, Volker Straub, M. Suri, V. Sutton, G. Swaminathan, E. Sweeney, K. Tatton-Brown, C. Taylor, R. Taylor, M. Tein, I. Temple, J. Thomson, M. Tischkowitz, S. Tomkins, A. Torokwa, B. Treacy, C. Turner, P. Turnpenny, C. Tysoe, A. Vandersteen, V. Varghese, P. Vasudevan, Parthiban Vijayarangakannan, J. Vogt, E. Wakeling, Sarah Wallwark, J. Waters, A. Weber, D. Wellesley, M. Whiteford, S. Widaa, S. Wilcox, Emily Wilkinson, Denise K. Williams, N. Williams, L. Wilson, G. Woods, C. Wragg, Michael Wright, Laura Yates, Michael Yau, C. Nellåker, M. Parker, H. Firth, C. Wright, D. FitzPatrick, J. Barrett, M. Hurles
10 2017
10
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🐜 Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
319 auth. Víctor Faundes, W. Newman, L. Bernardini, N. Canham, J. Clayton-Smith, B. Dallapiccola, S. Davies, M. Demos, A. Goldman, H. Gill, Rachel H Horton, B. Kerr, Dhavendra Kumar, A. Lehman, S. McKee, ... J. Morton, M. Parker, J. Rankin, Lisa K. Robertson, I. Temple, S. Banka, S. Adam, C. du Souich, Alison M. Elliott, J. Mwenifumbo, T. Nelson, C. V. van Karnebeek, J. Friedman, J. McRae, S. Clayton, Tomas W. Fitzgerald, J. Kaplanis, E. Prigmore, D. Rajan, A. Sifrim, Stuart Aitken, N. Akawi, M. Alvi, K. Ambridge, D. Barrett, T. Bayzetinova, P. Jones, W. Jones, D. King, N. Krishnappa, L. E. Mason, T. Singh, A. Tivey, Munaza Ahmed, U. Anjum, H. Archer, R. Armstrong, J. Awada, M. Balasubramanian, D. Baralle, A. Barnicoat, P. Batstone, D. Baty, C. Bennett, J. Berg, B. Bernhard, A. P. Bevan, M. Bitner-Glindzicz, Edward Blair, Moira Blyth, D. Bohanna, L. Bourdon, D. Bourn, Lisa M. Bradley, A. Brady, Simon Brent, C. Brewer, K. Brunstrom, D. Bunyan, J. Burn, B. Castle, K. Chandler, Elena Chatzimichali, D. Cilliers, Angus Clarke, S. Clasper, V. Clowes, A. Coates, T. Cole, Irina Colgiu, A. Collins, M. Collinson, F. Connell, N. Cooper, H. Cox, L. Cresswell, G. Cross, Y. Crow, Mariella D’Alessandro, T. Dabir, R. Davidson, S. Davies, Dylan de Vries, J. Dean, C. Deshpande, G. Devlin, A. Dixit, A. Dobbie, A. Donaldson, D. Donnai, D. Donnelly, C. Donnelly, A. Douglas, S. Douzgou, A. Duncan, J. Eason, S. Ellard, I. Ellis, F. Elmslie, K. Evans, S. Everest, T. Fendick, R. Fisher, F. Flinter, N. Foulds, A. Fry, A. Fryer, C. Gardiner, L. Gaunt, N. Ghali, Richard J. Gibbons, J. Goodship, D. Goudie, E. Gray, A. Green, P. Greene, L. Greenhalgh, S. Gribble, R. Harrison, L. Harrison, V. Harrison, R. Hawkins, Liu He, S. Hellens, A. Henderson, S. Hewitt, Lucy Hildyard, E. Hobson, S. Holden, M. Holder, S. Holder, G. Hollingsworth, T. Homfray, M. Humphreys, J. Hurst, Ben Hutton, S. Ingram, M. Irving, L. Islam, Andrew Jackson, J. Jarvis, L. Jenkins, Diana S. Johnson, E. Jones, D. Josifova, S. Joss, B. Kaemba, S. Kazembe, R. Kelsell, H. Kingston, U. Kini, E. Kinning, G. Kirby, C. Kirk, E. Kivuva, A. Kraus, V. Kumar, K. Lachlan, W. Lam, A. Lampe, C. Langman, M. Lees, D. Lim, C. Longman, G. Lowther, S. Lynch, A. Magee, E. Maher, Alison M. Male, S. Mansour, K. Marks, K. Martin, U. Maye, E. McCann, V. Mcconnell, M. McEntagart, R. McGowan, K. McKay, D. McMullan, S. McNerlan, C. Mcwilliam, S. Mehta, K. Metcalfe, A. Middleton, Z. Miedzybrodzka, E. Miles, S. Mohammed, T. Montgomery, D. Moore, S. Morgan, H. Mugalaasi, V. Murday, Helen R Murphy, S. Naik, Andrea M. Nemeth, L. Nevitt, R. Newbury-Ecob, A. Norman, R. O’Shea, C. Ogilvie, K. Ong, Soo-Mi Park, C. Patel, J. Paterson, S. Payne, D. Perrett, J. Phipps, D. Pilz, M. Pollard, C. Pottinger, J. Poulton, N. Pratt, K. Prescott, S. Price, A. Pridham, A. Procter, H. Purnell, O. Quarrell, N. Ragge, R. Rahbari, Joshua C Randall, L. Raymond, D. Rice, L. Robert, E. Roberts, Jonathan Roberts, P. Roberts, G. Roberts, A. Ross, E. Rosser, A. Saggar, S. Samant, J. Sampson, R. Sandford, A. Sarkar, S. Schweiger, R. Scott, I. Scurr, A. Selby, A. Seller, C. Sequeira, N. Shannon, S. Sharif, C. Shaw-Smith, E. Shearing, D. Shears, E. Sheridan, I. Simonic, R. Singzon, Z. Skitt, Audrey Smith, Kath Smith, S. Smithson, L. Sneddon, M. Splitt, M. Squires, Fiona J. Stewart, H. Stewart, Volker Straub, M. Suri, V. Sutton, G. Swaminathan, E. Sweeney, K. Tatton-Brown, C. Taylor, R. Taylor, M. Tein, J. Thomson, M. Tischkowitz, S. Tomkins, A. Torokwa, B. Treacy, C. Turner, P. Turnpenny, C. Tysoe, A. Vandersteen, V. Varghese, P. Vasudevan, Parthiban Vijayarangakannan, J. Vogt, E. Wakeling, Sarah Wallwark, J. Waters, A. Weber, D. Wellesley, M. Whiteford, S. Widaa, S. Wilcox, E. Wilkinson, Denise Williams, N. Williams, L. Wilson, G. Woods, C. Wragg, Michael Wright, L. Yates, Michael Yau, C. Nellåker, M. Parker, H. Firth, C. Wright, D. FitzPatrick, J. Barrett, M. Hurles
7 2018
7
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🐜 Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study
301 auth. J. McRae, Stephen Clayton, Tomas W. Fitzgerald, J. Kaplanis, E. Prigmore, D. Rajan, A. Sifrim, Stuart Aitken, N. Akawi, M. Alvi, K. Ambridge, D. Barrett, T. Bayzetinova, P. Jones, W. Jones, ... D. King, N. Krishnappa, L. E. Mason, T. Singh, A. Tivey, Munaza Ahmed, U. Anjum, H. Archer, R. Armstrong, J. Awada, M. Balasubramanian, S. Banka, D. Baralle, Angela Barnicoat, Paul Batstone, D. Baty, C. Bennett, Jonathan Berg, B. Bernhard, A. P. Bevan, M. Bitner-Glindzicz, Edward Blair, Moira Blyth, D. Bohanna, L. Bourdon, David Bourn, L. Bradley, Angela F. Brady, Simon Brent, C. Brewer, K. Brunstrom, D. Bunyan, J. Burn, N. Canham, B. Castle, K. Chandler, Elena Chatzimichali, D. Cilliers, Angus Clarke, S. Clasper, Jill Clayton-Smith, V. Clowes, A. Coates, Trevor Cole, Irina Colgiu, Amanda L. Collins, M. Collinson, F. Connell, N. Cooper, Helen Cox, L. Cresswell, G. Cross, Yanick J. Crow, Mariella D’Alessandro, T. Dabir, R. Davidson, Sally J Davies, Dylan de Vries, J. Dean, C. Deshpande, G. Devlin, A. Dixit, A. Dobbie, A. Donaldson, D. Donnai, D. Donnelly, C. Donnelly, Angela Douglas, Sofia Douzgou, A. Duncan, J. Eason, Sian Ellard, Ian Ellis, F. Elmslie, K. Evans, S. Everest, T. Fendick, R. Fisher, Frances A Flinter, N. Foulds, A. Fry, Alan Fryer, C. Gardiner, L. Gaunt, N. Ghali, Richard J. Gibbons, H. Gill, J. Goodship, D. Goudie, Emma V. Gray, Andrew Green, P. Greene, L. Greenhalgh, S. Gribble, L. Harrison, V. Harrison, R. Hawkins, Liu He, S. Hellens, Alex Henderson, S. Hewitt, Lucy Hildyard, E. Hobson, S. Holden, M. Holder, S. Holder, G. Hollingsworth, T. Homfray, Mervyn Humphreys, Jane A Hurst, Ben Hutton, S. Ingram, M. Irving, L. Islam, Andrew Jackson, J. Jarvis, L. Jenkins, Diana S. Johnson, Elizabeth Jones, D. Josifova, S. Joss, B. Kaemba, S. Kazembe, Rosemary Kelsell, Bronwyn Kerr, Helen Kingston, U. Kini, E. Kinning, G. Kirby, C. Kirk, E. Kivuva, A. Kraus, Dhavendra Kumar, V. Kumar, K. Lachlan, Wayne Lam, A. Lampe, C. Langman, Melissa Lees, D. Lim, Cheryl Longman, G. Lowther, S. Lynch, A. Magee, E. Maher, Alison M. Male, Sahar Mansour, K. Marks, K. Martin, U. Maye, E. McCann, Vivienne McConnell, MERIEL E Mcentagart, Ruth McGowan, Kirsten McKay, S. McKee, D. McMullan, S. Mcnerlan, C. Mcwilliam, S. Mehta, K. Metcalfe, Anna Middleton, Z. Miedzybrodzka, E. Miles, Shehla N Mohammed, T. Montgomery, D. Moore, Sian Morgan, J. Morton, H. Mugalaasi, Victoria Murday, Helen R Murphy, S. Naik, Andrea H Németh, L. Nevitt, R. Newbury-Ecob, Andrew Norman, R. O’Shea, C. Ogilvie, K. Ong, Soo-Mi Park, M. Parker, Chirag J. Patel, J. Paterson, Stewart Payne, D. Perrett, J. Phipps, D. Pilz, Martin O Pollard, C. Pottinger, Joanna Poulton, N. Pratt, K. Prescott, Sue Price, A. Pridham, A. Procter, H. Purnell, Oliver Quarrell, Nicola K. Ragge, R. Rahbari, Joshua C Randall, Julia Rankin, L. Raymond, D. Rice, L. Robert, E. Roberts, Jonathan Roberts, P. Roberts, G. Roberts, A. Ross, E. Rosser, A. Saggar, Shalaka Samant, Julian Sampson, R. Sandford, A. Sarkar, Susann Schweiger, R. Scott, I. Scurr, A. Selby, A. Seller, C. Sequeira, N. Shannon, S. Sharif, C. Shaw-Smith, E. Shearing, Debbie Shears, Eamonn Sheridan, I. Simonic, R. Singzon, Z. Skitt, Audrey Smith, Katherine R. Smith, S. Smithson, L. Sneddon, M. Splitt, M. Squires, Fiona J Stewart, Helen Stewart, Volker Straub, Mohnish Suri, V. Sutton, G. Swaminathan, Elizabeth Sweeney, K. Tatton-Brown, C. Taylor, R. Taylor, M. Tein, I. K. Temple, J. Thomson, M. Tischkowitz, S. Tomkins, A. Torokwa, B. Treacy, C. Turner, P. Turnpenny, C. Tysoe, A. Vandersteen, V. Varghese, P. Vasudevan, Parthiban Vijayarangakannan, J. Vogt, E. Wakeling, Sarah Wallwark, J. Waters, A. Weber, D. Wellesley, Margo Whiteford, S. Widaa, S. Wilcox, Emily Wilkinson, Denise K. Williams, Nicola Williams, Louise C. Wilson, G. Woods, C. Wragg, Michael Wright, Laura Yates, Michael Yau, C. Nellåker, M. Parker, H. Firth, C. Wright, David R Fitzpatrick, Jeffrey C. Barrett, M. Hurles
5 2016
5
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🐜 Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
379 auth. Lot Snijders Blok, J. Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, H. Venselaar, Lance H Rodan, C. Nowak, J. Douglas, K. Swoboda, Marcie A. Steeves, I. Sahai, C. Stumpel, A. Stegmann, P. Wheeler, ... M. Willing, E. Fiala, Aaina Kochhar, W. Gibson, A. Cohen, R. Agbahovbe, A. Innes, P. Au, J. Rankin, I. Anderson, Steven A. Skinner, R. Louie, H. Warren, A. Afenjar, B. Keren, C. Nava, J. Buratti, A. Isapof, D. Rodriguez, Raymond Lewandowski, Jennifer Propst, T. van Essen, Murim Choi, Sangmoon Lee, J. Chae, S. Price, R. Schnur, Ganka Douglas, I. Wentzensen, C. Zweier, A. Reis, M. Bialer, C. Moore, M. Koopmans, E. Brilstra, G. Monroe, K. V. van Gassen, E. van Binsbergen, R. Newbury-Ecob, L. Bownass, I. Bader, J. Mayr, S. Wortmann, K. Jakielski, E. Strand, K. Kloth, T. Bierhals, Jeremy F. Stephen Tomas W. Joanna Elena Diana Alejandro S McRae Clayton Fitzgerald Kaplanis Prigmore Rajan S, J. McRae, S. Clayton, Tomas W. Fitzgerald, J. Kaplanis, E. Prigmore, D. Rajan, A. Sifrim, Stuart Aitken, N. Akawi, M. Alvi, K. Ambridge, D. Barrett, T. Bayzetinova, P. Jones, W. Jones, D. King, N. Krishnappa, L. E. Mason, T. Singh, A. Tivey, Munaza Ahmed, U. Anjum, H. Archer, R. Armstrong, J. Awada, M. Balasubramanian, S. Banka, D. Baralle, A. Barnicoat, P. Batstone, D. Baty, C. Bennett, J. Berg, B. Bernhard, A. P. Bevan, M. Bitner-Glindzicz, E. Blair, Moira Blyth, D. Bohanna, L. Bourdon, D. Bourn, L. Bradley, A. Brady, Simon Brent, C. Brewer, K. Brunstrom, D. Bunyan, J. Burn, N. Canham, B. Castle, K. Chandler, Elena Chatzimichali, D. Cilliers, A. Clarke, S. Clasper, J. Clayton-Smith, V. Clowes, A. Coates, T. Cole, Irina Colgiu, A. Collins, M. Collinson, F. Connell, N. Cooper, H. Cox, L. Cresswell, G. Cross, Y. Crow, M. D'alessandro, T. Dabir, R. Davidson, S. Davies, Dylan de Vries, J. Dean, C. Deshpande, G. Devlin, A. Dixit, A. Dobbie, A. Donaldson, D. Donnai, D. Donnelly, C. Donnelly, A. Douglas, S. Douzgou, A. Duncan, J. Eason, S. Ellard, I. Ellis, F. Elmslie, K. Evans, S. Everest, T. Fendick, R. Fisher, F. Flinter, N. Foulds, A. Fry, A. Fryer, C. Gardiner, L. Gaunt, N. Ghali, R. Gibbons, H. Gill, J. Goodship, D. Goudie, Emma V. Gray, A. Green, P. Greene, L. Greenhalgh, S. Gribble, R. Harrison, L. Harrison, V. Harrison, R. Hawkins, Liu He, S. Hellens, A. Henderson, S. Hewitt, Lucy Hildyard, E. Hobson, S. Holden, M. Holder, S. Holder, G. Hollingsworth, T. Homfray, M. Humphreys, J. Hurst, Ben Hutton, S. Ingram, M. Irving, L. Islam, Andrew Jackson, J. Jarvis, L. Jenkins, Diana S. Johnson, E. Jones, D. Josifova, S. Joss, B. Kaemba, S. Kazembe, R. Kelsell, B. Kerr, H. Kingston, U. Kini, E. Kinning, G. Kirby, C. Kirk, E. Kivuva, A. Kraus, Dhavendra Kumar, V. K. A. Kumar, K. Lachlan, W. Lam, A. Lampe, C. Langman, M. Lees, D. Lim, C. Longman, G. Lowther, S. Lynch, A. Magee, E. Maher, Alison M. Male, S. Mansour, K. Marks, K. Martin, U. Maye, E. McCann, V. Mcconnell, M. McEntagart, R. McGowan, K. McKay, S. McKee, D. McMullan, S. Mcnerlan, C. Mcwilliam, S. Mehta, K. Metcalfe, A. Middleton, Z. Miedzybrodzka, E. Miles, S. Mohammed, T. Montgomery, D. Moore, S. Morgan, J. Morton, H. Mugalaasi, V. Murday, Helen R Murphy, S. Naik, A. Nemeth, L. Nevitt, A. Norman, R. O’Shea, C. Ogilvie, K. Ong, Soo-Mi Park, M. Parker, C. Patel, J. Paterson, S. Payne, D. Perrett, J. Phipps, D. Pilz, M. Pollard, C. Pottinger, J. Poulton, N. Pratt, K. Prescott, A. Pridham, A. Procter, H. Purnell, O. Quarrell, N. Ragge, R. Rahbari, J. Randall, L. Raymond, D. Rice, L. Robert, E. Roberts, Jonathan Roberts, P. Roberts, G. Roberts, A. Ross, E. Rosser, A. Saggar, S. Samant, J. Sampson, R. Sandford, A. Sarkar, S. Schweiger, R. Scott, I. Scurr, A. Selby, A. Seller, C. Sequeira, N. Shannon, S. Sharif, C. Shaw-Smith, E. Shearing, D. Shears, E. Sheridan, I. Simonic, R. Singzon, Z. Skitt, Audrey Smith, Kath Smith, S. Smithson, L. Sneddon, M. Splitt, M. Squires, F. Stewart, H. Stewart, V. Straub, M. Suri, V. Sutton, G. Swaminathan, E. Sweeney, K. Tatton-Brown, Cat Taylor, Rohan Taylor, M. Tein, I. Temple, J. Thomson, M. Tischkowitz, S. Tomkins, A. Torokwa, B. Treacy, C. Turner, P. Turnpenny, C. Tysoe, A. Vandersteen, V. Varghese, P. Vasudevan, Parthiban Vijayarangakannan, J. Vogt, E. Wakeling, Sarah Wallwark, J. Waters, A. Weber, D. Wellesley, M. Whiteford, S. Widaa, S. Wilcox, E. Wilkinson, Denise Williams, N. Williams, L. Wilson, G. Woods, C. Wragg, M. Wright, L. Yates, M. Yau, C. Nellåker, M. Parker, H. Firth, C. Wright, D. FitzPatrick, J. Barrett, M. Hurles, John D. Roberts, R. Petrovich, Shinichi Machida, H. Kurumizaka, Stefan H. Lelieveld, R. Pfundt, S. Jansen, P. Deriziotis, L. Faivre, J. Thevenon, M. Assoum, L. Shriberg, T. Kleefstra, H. Brunner, P. Wade, S. Fisher, Philippe M. Campeau
1 2019
1
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