BetterScholar BetterScholar
11
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. NellΓ₯ker, M. Parker, H. Firth, C. Wright, D. FitzPatrick, J. Barrett, M. Hurles
10 2017
10
🐜
🐜 Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
134 auth. D. Pinto, Elsa Delaby, Elsa Delaby, Elsa Delaby, D. Merico, M. Barbosa, Alison K. Merikangas, L. Klei, B. Thiruvahindrapuram, Xiao Xu, R. Ziman, Zhuozhi Wang, J. Vorstman, A. Thompson, R. Regan, ... R. Regan, M. Pilorge, M. Pilorge, M. Pilorge, G. Pellecchia, A. Pagnamenta, B. Oliveira, B. Oliveira, C. Marshall, T. Magalhães, T. Magalhães, J. Lowe, J. Howe, A. Griswold, J. Gilbert, E. Duketis, B. Dombroski, M. Jonge, M. Cuccaro, Emily L. Crawford, C. Correia, C. Correia, J. Conroy, Inȇs C. Conceição, Inȇs C. Conceição, A. Chiocchetti, J. Casey, J. Casey, Guiqing Cai, C. Cabrol, C. Cabrol, C. Cabrol, N. Bolshakova, E. Bacchelli, R. Anney, S. Gallinger, M. Cotterchio, G. Casey, L. Zwaigenbaum, Kerstin Wittemeyer, Kirsty Wing, S. Wallace, H. Engeland, A. Tryfon, Susanne A. Thomson, L. Soorya, B. Rogé, W. Roberts, F. Poustka, S. Mouga, N. Minshew, L. A. McInnes, S. McGrew, C. Lord, M. Leboyer, A. Couteur, A. Kolevzon, P. J. GonzÑlez, Suma Jacob, Suma Jacob, R. Holt, Stephen J. Guter, Jonathan Green, A. Green, Andrew Green, C. Gillberg, B. Fernandez, F. Duque, R. Delorme, G. Dawson, P. Chaste, C. Café, Sean Brennan, T. Bourgeron, P. Bolton, P. Bolton, S. Bâlte, S. Bâlte, R. Bernier, G. Baird, A. Bailey, A. Bailey, E. Anagnostou, J. Almeida, E. Wijsman, V. Vieland, A. Vicente, A. Vicente, G. Schellenberg, M. Pericak-Vance, A. Paterson, J. Parr, G. Oliveira, J. Nurnberger, A. Monaco, A. Monaco, E. Maestrini, S. Klauck, H. Hakonarson, J. Haines, D. Geschwind, C. Freitag, S. Folstein, S. Ennis, S. Ennis, H. Coon, A. Battaglia, P. Szatmari, J. Sutcliffe, Joachim Hallmayer, M. Gill, E. Cook, J. Buxbaum, B. Devlin, L. Gallagher, C. Betancur, C. Betancur, C. Betancur, S. Scherer
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
🐜
🐜 Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
319 auth. VΓ­ctor 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. NellΓ₯ker, M. Parker, H. Firth, C. Wright, D. FitzPatrick, J. Barrett, M. Hurles
7 2018
7
🐜
🐜 Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance.
10 auth. J. Barber, C. Joyce, M. Collinson, J. Nicholson, L. Willatt, H. M. Dyson, ... M. Bateman, A. Green, J. Yates, N. Dennis
6 1998
6
🐜
🐜 Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors
282 auth. P. Marques, F. Caimari, L. HernΓ‘ndez-RamΓ­rez, D. Collier, D. Iacovazzo, A. Ronaldson, K. Magid, C. Lim, K. Stals, S. Ellard, A. Grossman, M. Korbonits, P. Abraham, E. Aflorei, A. Agha, ... J. Ahlquist, S. Akker, K. Alexandraki, S. AlfΓΆldi, J. Anselmo, W. Arlt, B. Atkinson, Anna Aulinas-MasΓ³, S. Aylwin, A. Baborie, P. Backeljauw, C. Badiu, S. Baldeweg, S. Ball, G. Bano, A. Barkan, J. Barton, J. Barwell, P. Bates, Carmen Bernal-GonzΓ‘lez, M. Besser, J. Bevan, A. Bickerton, J. Blair, M. Bolanowski, Pierre-Mark Bouloux, L. Bradley, K. Bradley, C. Brain, A. Brooke, Roger R. Brown, M. Buchfelder, C. Burren, M. Cakir, N. Canham, J. Capraro, P. Carroll, Philippa J Carter, D. Carty, Dominic Cavlan, H. Chahal, T. Cheetham, F. Chentli, C. Choong, M. Christ-Crain, T. Chung, Peter E. Clayton, Richard N. Clayton, Mark Cohen, H. Courtney, D. Cove, E. Crowne, D. Cuthbertson, Jacob Dal, N. Dalantaeva, S. DamjanoviΔ‡, C. Daousi, K. Darzy, M. Dattani, M. Davies, J. Davies, Julian R. E. Davis, M. de Castro, L. De Marinis, Cheri I. Deal, J. DΓ©nes, P. Dimitri, N. Dorward, Graham J. Dow, W. Drake, M. Druce, J. Drummond, P. Dutta, L. Dzeranova, Britt EdΓ©n-EngstrΓΆm, R. Eeles, M. Elfving, K. Ellis, M. Elston, L. Emmerson, S. Ezzat, N. Fersht, S. Fica, S. Fischli, M. Fleseriu, E. Forsythe, W. Foulkes, P. Freda, Theodore Friedman, M. Gadelha, M. Gainsborough, S. Gallacher, P. Gallego, Hoong-Wei Gan, C. Georgescu, E. Gevers, C. Gilkes, N. Glynn, J. Goldman, A. Goldstone, M. GΓ³th, A. Green, L. Greenhalgh, J. Grieve, Luiz Griz, M. Guitelman, A. GΓΌrlek, M. Gurnell, P. Hamblin, V. HΓ‘na, Philip Harding, Eleanor M. Hay, D. Hilton, Winnie Ho, G. Hong, K. HorvΓ‘th, S. Howell, T. Howlett, C. HΓΆybye, S. Hunter, Chandi Idampitiya, P. Igaz, W. Inder, T. Iwata, L. Izatt, S. Jagadeesh, C. Johnston, B. Jose, G. Kaltsas, Felicity Kaplan, N. Karavitaki, D. KaΕ‘telan, M. Katz, T. Kearney, M. Kershaw, B. Khoo, C. Kiraly-Borri, R. Knispelis, G. Kovacs, Amit Kumar, Ajith Kumar, I. Kun, Angelos Kyriaku, I. Lambrescu, A. Lampe, E. Laws, Agnieszka Lebek-Szatanska, R. Lechan, G. Leese, A. Levy, M. Levy, K. Lewandowski, E. Lin, J. Lo, Catherine Lyons, N. Maartens, M. Maghnie, T. Makaya, H. Marcus, M. Niedziela, N. Martin, A. Matsuno, B. McGowan, S. Mcquaid, M. Medic-Stojanoska, N. Mendoza, MoisΓ©s Mercado-AtrΓ­, S. Mettananda, E. MezΕ‘si, D. MiljiΔ‡, K. Miller, Silvia Modenesi, M. Molitch, J. Monson, D. Morris, P. Morrison, B. Mosterman, Alia Munir, R. Murray, M. MuΘ™at, N. Musolino, L. Nachtigall, D. Nagi, R. Nair, R. Nelson, J. Newell-Price, K. Nikookam, Arla Ogilivie, S. Orme, Martin OΒ΄Weickert, A. Pal, I. PaΘ™canu, A. PatΓ³cs, Catherine Patterson, S. Pearce, F. Pecori Giraldi, L. Penney, L. Perez-Rivas, M. Pfeifer, F. Pirie, N. Poplawski, V. PopoviΔ‡, Michael J. Powell, P. Pullan, R. Quinton, Ş. Radian, H. Randeva, N. Reddy, A. Rees, V. Renals, AntΓ΄nio Ribeiro de Oliveira, T. Richardson, C. Rodd, R. Ross, F. Roncaroli, F. Ryan, R. Salvatori, C. SchΓΆfl, D. Shears, K. Shotliff, R. Skelly, Katie Snape, B. Soares, N. Somasundaram, A. Spada, James Sperber, H. Spoudeas, M. Stelmachowska-BanaΕ›, S. Stewart, H. Storr, C. Strasburger, M. Street, I. Suter‐Widmer, G. Suthers, F. Swords, L. Syro, Brede Swantje, Candy Sze, Juliet Taylor, R. Thakker, Elaine Tham, C. Thompson, M. Thorner, M. TΓ³th, P. Trainer, S. Tsagarakis, Gina Twine, M. Tzanela, J. VadΓ‘sz, B. Vaidya, V. Vaks, M. Vance, R. VerkauskienΔ—, Hilde Von Esch, J. Wass, M. Waterhouse, S. Webb, A. Weber, F. Wernig, H. Widell, S. Yamada, Patrick Yap, S. Yarman, Philip Yeoh, K. Yoshimoto, K. Yuen, N. Zammitt
5 2020
5
🐜
🐜 Detection of novel germline mutations for breast cancer in non‐BRCA1/2 families
13 auth. Fatima Aloraifi, T. Mcdevitt, Rui Martiniano, J. McGreevy, R. Mclaughlin, Christopher Egan, N. Cody, M. Meany, E. Kenny, A. Green, ... D. Bradley, J. Geraghty, A. Bracken
5 2015
5
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🐜 The contribution of X-linked coding variation to severe developmental disorders
265 auth. H. Martin, E. Gardner, K. Samocha, J. Kaplanis, N. Akawi, A. Sifrim, R. Y. Eberhardt, A. L. T. Tavares, M. Neville, Mari E. K. Niemi, G. Gallone, J. McRae, 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. 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, E. 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, A. Wilkie, S. Albaba, Duncan Baker, M. Balasubramanian, Diana S. Johnson, M. Parker, O. Quarrell, Alison G. 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, Angus 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, C. Wright, D. FitzPatrick, H. Firth, M. Hurles
5 2020
5
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🐜 Constitutional trisomy 8 and Behçet syndrome
10 auth. K. Becker, O. FitzGerald, A. Green, M. Keogan, R. Newbury-Ecob, L. Greenhalgh, ... S. Withers, E. Hollox, Patricia M R Aldred, J. Armour
5 2009
5
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🐜 Xp22.3 Microdeletion in a 19‐Year‐Old Girl with Clinical Features of MLS Syndrome
8 auth. F. Enright, P. Campbell, R. Stallings, K. Hall, A. Green, E. Sweeney, ... L. Barnes, R. Watson
3 2003
3
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🐜 Fine mapping and association studies in a candidate region for autism on chromosome 2q31–q32
12 auth. J. Conroy, L. Cochrane, R. Anney, J. Sutcliffe, Paula Carthy, A. Dunlop, ... M. Mullarkey, B. O'hici, A. Green, S. Ennis, M. Gill, L. Gallagher
3 2009
3
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