T. Dabir's Profile

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 🐜
🐜	Large-scale discovery of novel genetic causes of developmental disorders 265 auth. Tomas W. Fitzgerald, S. Gerety, W. Jones, M. Kogelenberg, D. King, J. McRae, K.I. Morley, V. Parthiban, S. Al-Turki, K. Ambridge, D. Barrett, T. Bayzetinova, Stephen Clayton, Eve L. Coomber, S. Gribble, ... Peter B. Jones, N. Krishnappa, L. E. Mason, Anna Middleton, Ray Miller, E. Prigmore, D. Rajan, A. Sifrim, A. Tivey, M. Ahmed, N. Akawi, Robert Andrews, U. Anjum, H. Archer, R. Armstrong, M. Balasubramanian, Rangan Banerjee, D. Baralle, P. Batstone, D. Baty, C. Bennett, J. Berg, B. Bernhard, A. P. Bevan, Edward Blair, Moira Blyth, D. Bohanna, L. Bourdon, David Bourn, Angela F. Brady, E. Bragin, C. Brewer, L. Brueton, K. Brunstrom, S. Bumpstead, D. Bunyan, J. Burn, John Burton, N. Canham, B. Castle, K. Chandler, S. Clasper, Jill Clayton-Smith, Trevor Cole, Allan J. Collins, M. Collinson, F. Connell, Nicholas J. Cooper, H. Cox, L. Cresswell, G. Cross, Y. Crow, M. D'alessandro, T. Dabir, R. Davidson, Stuart J. Davies, J. Dean, C. Deshpande, G. Devlin, A. Dixit, A. Dominiczak, C. Donnelly, D. Donnelly, Angela Douglas, A. Duncan, J. Eason, S. Edkins, S. Ellard, Peter R. Ellis, F. Elmslie, Kathryn L. Evans, S. Everest, T. Fendick, R. Fisher, F. Flinter, N. Foulds, Alan Fryer, B. Fu, C. Gardiner, L. Gaunt, N. Ghali, Richard J. Gibbons, S. L. G. Pereira, J. Goodship, D. Goudie, Emma V. Gray, P. Greene, L. Greenhalgh, L. Harrison, R. Hawkins, S. Hellens, A. Henderson, E. Hobson, S. Holden, S. Holder, G. Hollingsworth, T. Homfray, Mervyn Humphreys, J. Hurst, S. Ingram, M. Irving, J. Jarvis, L. Jenkins, Diana S. Johnson, D. Jones, Elizabeth Jones, D. Josifova, S. Joss, B. Kaemba, S. Kazembe, Bronwyn Kerr, U. Kini, E. Kinning, G. Kirby, C. Kirk, E. Kivuva, A. Kraus, Dinesh Kumar, K. Lachlan, W. Lam, AK Lampe, Craig B. Langman, M. Lees, D. Lim, G. Lowther, S. Lynch, A. Magee, E. Maher, Sahar Mansour, K. Marks, Kevin J. Martin, U. Maye, E. McCann, V. Mcconnell, M. McEntagart, R. McGowan, K. McKay, S. McKee, D. McMullan, S. Mcnerlan, S. Mehta, K. Metcalfe, E. Miles, S. Mohammed, T. Montgomery, D. Moore, S. Morgan, Andrew D. Morris, J. Morton, H. Mugalaasi, V. Murday, L. Nevitt, R. Newbury-Ecob, A. Norman, R. O’Shea, C. Ogilvie, Soo-Mi Park, MJ Parker, Chirag J. Patel, J. Paterson, S. Payne, J. Phipps, D. Pilz, D. Porteous, N. Pratt, K. Prescott, S. Price, A. Pridham, A. Procter, H. Purnell, Nicola K. Ragge, Julia Rankin, L. Raymond, D. Rice, L. Robert, E. Roberts, Gilbert Roberts, Jonathan Roberts, P. Roberts, Allyson Ross, E. Rosser, A. Saggar, S. Samant, R. Sandford, A. Sarkar, Susann Schweiger, C. Scott, Regan Scott, A. Selby, A. Seller, C. Sequeira, N. Shannon, S. Sharif, C. Shaw-Smith, E. Shearing, D. Shears, I. Simonic, D. Simpkin, R. Singzon, Z. Skitt, Andrew H. Smith, Blair H. Smith, Kath Smith, S. Smithson, L. Sneddon, M. Splitt, M. Squires, Fiona J Stewart, Helen Stewart, Mohnish Suri, V. R. Sutton, G. Swaminathan, Elizabeth Sweeney, K. Tatton-Brown, C. Taylor, Robert W. Taylor, M. Tein, I. Temple, J. Thomson, John Tolmie, A. Torokwa, B. Treacy, C. Turner, P. Turnpenny, C. Tysoe, A. Vandersteen, P. Vasudevan, J. Vogt, E. Wakeling, D. Walker, J. Waters, A. Weber, D. Wellesley, M. Whiteford, S. Widaa, Stephen A. Wilcox, Desmond E. Williams, Nicholas Williams, G. Woods, C. Wragg, Michael Wright, Fengtang Yang, M. Yau, Nigel P. Carter, Michael Parker, H. Firth, David Fitzpatrick, C. Wright, J. Barrett, M. Hurles	9	2014	9 🐜
🐜	Evidence for 28 genetic disorders discovered by combining healthcare and research data 281 auth. J. Kaplanis, K. Samocha, L. Wiel, Zhancheng Zhang, Kevin J. Arvai, R. Y. Eberhardt, G. Gallone, Stefan H. Lelieveld, H. Martin, J. McRae, Patrick J. Short, R. Torene, E. de Boer, P. Danecek, E. Gardner, ... N. Huang, J. Lord, I. Martincorena, R. Pfundt, Margot R. F. Reijnders, A. Yeung, H. Yntema, Silvia Borras, C. Clark, J. Dean, Z. Miedzybrodzka, A. Ross, S. Tennant, T. Dabir, D. Donnelly, M. Humphreys, A. Magee, V. Mcconnell, S. McKee, S. McNerlan, P. Morrison, Gillian Rea, F. Stewart, T. Cole, N. Cooper, Lisa Cooper-Charles, H. Cox, L. Islam, J. Jarvis, Rebecca Keelagher, D. Lim, D. McMullan, J. Morton, S. Naik, M. O'Driscoll, K. Ong, D. Osio, N. Ragge, Sarah E Turton, J. Vogt, Denise Williams, S. Bodek, A. Donaldson, A. Hills, K. Low, R. Newbury-Ecob, A. Norman, E. Roberts, I. Scurr, S. Smithson, Madeleine J Tooley, S. Abbs, R. Armstrong, C. Dunn, S. Holden, Soo-Mi Park, J. Paterson, L. Raymond, E. Reid, R. Sandford, I. Simonic, M. Tischkowitz, G. Woods, L. Bradley, Joanne Comerford, A. Green, S. Lynch, S. McQuaid, B. Mullaney, J. Berg, D. Goudie, Eleni Mavrak, Joanne McLean, C. Mcwilliam, E. Reavey, T. Azam, Elaine M. Cleary, Andrew Jackson, W. Lam, A. Lampe, D. Moore, M. Porteous, E. Baple, J. Baptista, C. Brewer, B. Castle, E. Kivuva, M. Owens, J. Rankin, C. Shaw-Smith, C. Turner, P. Turnpenny, C. Tysoe, T. Bradley, R. Davidson, C. Gardiner, S. Joss, E. Kinning, C. Longman, R. McGowan, V. Murday, D. Pilz, E. Tobias, M. Whiteford, N. Williams, A. Barnicoat, E. Clement, F. Faravelli, J. Hurst, L. Jenkins, W. Jones, V. K. A. Kumar, M. Lees, S. Loughlin, Alison M. Male, D. Morrogh, E. Rosser, R. Scott, L. Wilson, A. Beleza, C. Deshpande, F. Flinter, M. Holder, M. Irving, L. Izatt, D. Josifova, S. Mohammed, Aneta Molenda, L. Robert, W. Roworth, D. Ruddy, Mina Ryten, S. Yau, C. Bennett, Moira Blyth, Jennifer Campbell, A. Coates, A. Dobbie, S. Hewitt, E. Hobson, Eilidh Jackson, Rosalyn Jewell, A. Kraus, K. Prescott, Eamonn Sheridan, J. Thomson, Kirsty Bradshaw, A. Dixit, J. Eason, R. Haines, R. Harrison, Stacey Mutch, A. Sarkar, C. Searle, N. Shannon, A. Sharif, M. Suri, P. Vasudevan, N. Canham, I. Ellis, L. Greenhalgh, Emma Howard, V. Stinton, Andrew Swale, A. Weber, S. Banka, Catherine Breen, T. Briggs, E. Burkitt-Wright, K. Chandler, J. Clayton-Smith, D. Donnai, S. Douzgou, L. Gaunt, E. Jones, B. Kerr, Claire Langley, K. Metcalfe, Audrey Smith, R. Wright, D. Bourn, J. Burn, R. Fisher, S. Hellens, A. Henderson, T. Montgomery, M. Splitt, Volker Straub, Michael Wright, S. Zwolinski, Zoe Allen, B. Bernhard, A. Brady, Claire Brooks, Louise Busby, V. Clowes, N. Ghali, S. Holder, Rita Ibitoye, E. Wakeling, Edward Blair, J. Carmichael, D. Cilliers, S. Clasper, Richard J. Gibbons, U. Kini, T. Lester, Andrea M. Nemeth, J. Poulton, S. Price, D. Shears, H. Stewart, Andrew Wilkie, S. Albaba, Duncan Baker, M. Balasubramanian, Diana S. Johnson, M. Parker, O. Quarrell, A. Stewart, J. Willoughby, C. Crosby, F. Elmslie, T. Homfray, Huilin Jin, N. Lahiri, S. Mansour, K. Marks, M. McEntagart, A. Saggar, K. Tatton-Brown, R. Butler, A. Clarke, S. Corrin, A. Fry, Arveen Kamath, E. McCann, H. Mugalaasi, C. Pottinger, A. Procter, J. Sampson, F. Sansbury, V. Varghese, D. Baralle, A. Callaway, Emma-Jane Cassidy, Stacey Daniels, A. Douglas, N. Foulds, D. Hunt, Mira Kharbanda, K. Lachlan, C. Mercer, L. Side, I. Temple, D. Wellesley, L. Vissers, J. Juusola, C. Wright, H. Brunner, H. Firth, D. FitzPatrick, J. Barrett, M. Hurles, C. Gilissen, K. Retterer	8	2020	8 🐜
🐜	Mutations in the DNA methyltransferase gene, DNMT3A, cause an overgrowth syndrome with intellectual disability 23 auth. K. Tatton-Brown, S. Seal, Elise Ruark, J. Harmer, Emma Ramsay, Silvana del Vecchio Duarte, A. Zachariou, S. Hanks, Eleanor M. O’Brien, L. Aksglaede, ... D. Baralle, T. Dabir, B. Gener, D. Goudie, T. Homfray, Ajith Kumar, D. Pilz, A. Selicorni, I. Temple, Lionel Van Maldergem, Naomi Yachelevich, Robert van Montfort, N. Rahman	8	2014	8 🐜
🐜	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 🐜
🐜	De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 104 auth. S. Küry, G. V. van Woerden, T. Besnard, Martina Proietti Onori, X. Latypova, Meghan C Towne, M. Cho, T. Prescott, Melissa A Ploeg, Stephan J Sanders, H. Stessman, A. Pujol, B. Distel, L. Robak, J. Bernstein, ... A. Denommé-Pichon, G. Lesca, E. Sellars, J. Berg, W. Carré, Ø. Busk, B. V. van Bon, J. Waugh, M. Deardorff, G. Hoganson, Katherine B Bosanko, Diana S. Johnson, T. Dabir, Ø. Holla, A. Sarkar, K. Tveten, J. de Bellescize, G. Braathen, P. Terhal, D. Grange, A. van Haeringen, Christina Lam, G. Mirzaa, J. Burton, E. Bhoj, J. Douglas, A. Santani, Addie I. Nesbitt, K. Helbig, Marisa V. Andrews, Amber Begtrup, Sha Tang, K. V. van Gassen, J. Juusola, Kimberly Foss, G. Enns, U. Moog, K. Hinderhofer, N. Paramasivam, Sharyn A. Lincoln, Brandon H Kusako, P. Lindenbaum, Eric Charpentier, C. Nowak, E. Chérot, T. Simonet, C. Ruivenkamp, S. Hahn, C. Brownstein, F. Xia, S. Schmitt, W. Deb, D. Bonneau, M. Nizon, D. Quinquis, J. Chelly, G. Rudolf, D. Sanlaville, P. Parent, B. Gilbert-Dussardier, A. Toutain, V. Sutton, Jenny M Thies, Lisenka E L M Peart-Vissers, P. Boisseau, M. Vincent, A. Grabrucker, C. Dubourg, W. Tan, N. Verbeek, M. Granzow, G. Santen, J. Shendure, B. Isidor, L. Pasquier, R. Redon, Yaping Yang, M. State, T. Kleefstra, B. Cogné, S. Petrovski, K. Retterer, E. Eichler, J. Rosenfeld, P. Agrawal, S. Bézieau, S. Odent, Y. Elgersma, S. Mercier	7	2017	7 🐜
🐜	The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants 52 auth. K. Tatton-Brown, K. Tatton-Brown, A. Zachariou, C. Loveday, A. Renwick, S. Mahamdallie, L. Aksglaede, D. Baralle, D. Barge-Schaapveld, Moira Blyth, M. Bouma, J. Breckpot, Beau A. Crabb, T. Dabir, V. Cormier-Daire, ... C. Fauth, R. Fisher, B. Gener, D. Goudie, T. Homfray, T. Homfray, M. Hunter, Agnete Jørgensen, S. Kant, Cathy Kirally-Borri, D. Koolen, Ajith Kumar, Anatália Labilloy, M. Lees, C. Marcelis, C. Mercer, C. Mignot, Kathryn Miller, K. Neas, R. Newbury-Ecob, D. Pilz, R. Posmyk, C. Prada, K. Ramsey, L. Randolph, A. Selicorni, D. Shears, M. Suri, I. Temple, P. Turnpenny, Lionel Val Maldergem, V. Varghese, H. Veenstra-Knol, Naomi Yachelevich, L. Yates, D. D. D. Study, N. Rahman	6	2018	6 🐜
🐜	Pathogenicity and selective constraint on variation near splice sites 32 auth. J. Lord, G. Gallone, Patrick J. Short, J. McRae, H. Ironfield, Elizabeth H. Wynn, Sebastian S. Gerety, Liu He, Bronwyn Kerr, Bronwyn Kerr, Diana S. Johnson, E. McCann, E. Kinning, F. Flinter, I. K. Temple, ... I. K. Temple, Jill Clayton-Smith, Jill Clayton-Smith, M. McEntagart, S. Lynch, S. Joss, Sofia Douzgou, Sofia Douzgou, T. Dabir, V. Clowes, V. Mcconnell, W. Lam, C. Wright, D. FitzPatrick, H. Firth, J. Barrett, M. Hurles	6	2018	6 🐜
🐜	Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. 69 auth. Scott C. Bell, J. Rousseau, Huashan Peng, Zahia Aouabed, Pierre Priam, J. Théroux, Malvin Jefri, A. Tanti, Hanrong Wu, Ilaria Kolobova, Heika Silviera, Karla Manzano-Vargas, Sophie Ehresmann, F. Hamdan, N. Hettige, ... Xin Zhang, Lilit Antonyan, Christina Nassif, Lina Ghaloul-Gonzalez, Jessica Sebastian, J. Vockley, Amber Begtrup, I. Wentzensen, Amy Crunk, R. Nicholls, K. Herman, Joshua L. Deignan, W. Al-Hertani, S. Efthymiou, V. Salpietro, N. Miyake, Y. Makita, N. Matsumoto, R. Østern, G. Houge, M. Hafström, E. Fassi, H. Houlden, J. S. Klein Wassink-Ruiter, Dominic Nelson, A. Goldstein, T. Dabir, J. Van Gils, T. Bourgeron, R. Delorme, G. Cooper, José E. Martínez, C. Finnila, L. Carmant, A. Lortie, R. Oegema, K. V. van Gassen, S. Mehta, D. Huhle, R. Abou Jamra, Sonja Martin, H. Brunner, D. Lindhout, M. Au, J. Graham, C. Coubes, G. Turecki, S. Gravel, N. Mechawar, E. Rossignol, J. Michaud, J. Lessard, C. Ernst, Philippe M. Campeau	6	2019	6 🐜
🐜	Further delineation of the KAT6B molecular and phenotypic spectrum 59 auth. Tamsin Gannon, R. Perveen, H. Schlecht, S. Ramsden, Beverley H Anderson, B. Kerr, R. Day, S. Banka, M. Suri, S. Berland, M. Gabbett, A. Ma, S. Lyonnet, V. Cormier-Daire, Rüstem Yilmaz, ... G. Borck, D. Wieczorek, B. Anderlid, S. Smithson, J. Vogt, Heather L Moore-Barton, P. Simsek-Kiper, I. Maystadt, A. Destrėe, Jessica A Bucher, Brad Angle, S. Mohammed, E. Wakeling, S. Price, A. Singer, Y. Sznajer, A. Toutain, D. Haye, R. Newbury-Ecob, M. Fradin, J. McGaughran, B. Tuysuz, M. Tein, K. Bouman, T. Dabir, J. van den Ende, H. Luk, D. Pilz, J. Eason, S. Davies, W. Reardon, L. Garavelli, O. Zuffardi, K. Devriendt, R. Armstrong, Diana S. Johnson, M. Doco‐Fenzy, E. Bijlsma, S. Unger, H. Veenstra-Knol, J. Kohlhase, I. F. Lo, Janine M. Smith, J. Clayton-Smith	5	2014	5 🐜
🐜	Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update 53 auth. Lijia Huang, Megan R. Vanstone, T. Hartley, M. Osmond, N. Barrowman, J. Allanson, L. Baker, T. Dabir, K. Dipple, W. Dobyns, Jane Estrella, H. Faghfoury, Francine P Favaro, H. Goel, P. A. Gregersen, ... K. Gripp, A. Grix, M. Guion-Almeida, M. Harr, Cindy Hudson, A. Hunter, John P. Johnson, S. Joss, Amy Kimball, U. Kini, A. Kline, J. Lauzon, D. Lildballe, V. López‐González, Johanna Martinezmoles, C. Meldrum, G. Mirzaa, C. Morel, J. Morton, L. Pyle, F. Quintero-Rivera, J. Richer, A. Scheuerle, B. Schönewolf-Greulich, D. Shears, J. Silver, Amanda C. Smith, I. Temple, Jiddeke M. de Kamp, F. Dijk, A. Vandersteen, Sue White, E. Zackai, Ruobing Zou, C. C. Consortium, D. Bulman, K. Boycott, Matthew A Lines	5	2016	5 🐜