S. Ingram'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 🐜
🐜	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 🐜
🐜	Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa 55 auth. G. Arno, S. Agrawal, A. Eblimit, J. Bellingham, Mingchu Xu, Feng Wang, C. Chakarova, David A. Parfitt, A. Lane, T. Burgoyne, S. Hull, K. Carss, A. Fiorentino, M. Hayes, Peter M. G. Munro, ... Ralph Nicols, Nikolas Pontikos, G. Holder, G. Black, G. Hall, S. Ingram, R. Gillespie, F. Manson, P. Sergouniotis, C. Inglehearn, C. Toomes, Manir Ali, M. Mckibbin, J. Poulter, K. Khan, Emma C. Lord, Andrea M. Nemeth, S. Downes, Jing Yu, S. Lise, G. Arno, A. Fiorentino, Nikos Ponitkos, V. Plagnol, M. Michaelides, A. Hardcastle, M. Cheetham, A. R. Webster, V. van Heyningen, C. Asomugha, F. Raymond, A. Moore, V. Plagnol, M. Michaelides, A. Hardcastle, Yumei Li, C. Cukras, A. R. Webster, M. Cheetham, Rui Chen	6	2016	6 🐜
🐜	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 🐜
🐜	Clinical utility of genetic testing in 201 preschool children with inherited eye disorders 18 auth. E. Lenassi, J. Clayton-Smith, S. Douzgou, S. Ramsden, S. Ingram, G. Hall, Claire Hardcastle, T. Fletcher, R. Taylor, J. Ellingford, ... William Newman, C. Fenerty, Vinod Sharma, I. C. Lloyd, S. Biswas, J. Ashworth, G. Black, P. Sergouniotis	5	2019	5 🐜
🐜	Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen 35 auth. R. Taylor, J. Poulter, S. Downes, M. Mckibbin, K. Khan, C. Inglehearn, A. Webster, A. Hardcastle, M. Michaelides, P. Bishop, Simon J. Clark, G. Black, G. Black, G. Hall, S. Ingram, ... R. Taylor, F. Manson, P. Sergouniotis, A. Webster, A. Hardcastle, V. Plagnol, Nikolas Pontikos, M. Cheetham, G. Arno, A. Fiorentino, C. Inglehearn, C. Toomes, Manir Ali, Claire E L Smith, K. Khan, S. Downes, Jing Yu, S. Halford, S. Broadgate, V. van Heyningen	4	2019	4 🐜
🐜	Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. 307 auth. G. Arno, K. Carss, S. Hull, C. Zihni, A. Robson, A. Fiorentino, A. Hardcastle, G. Holder, M. Cheetham, V. Plagnol, A. Moore, F. Raymond, K. Matter, M. Balda, A. R. Webster, ... Graeme Black, Georgina Hall, S. Ingram, R. Gillespie, F. Manson, P. Sergouniotis, C. Inglehearn, C. Toomes, Manir Ali, M. Mckibbin, J. Poulter, K. Khan, Emma C. Lord, Andrea M. Nemeth, Susan M. Downes, S. Halford, Jing Yu, S. Lise, Nikos Ponitkos, M. Michaelides, V. van Heyningen, T. Aitman, H. Alachkar, Sonia Ali, L. Allen, D. Allsup, Gautum Ambegaonkar, Julie Anderson, R. Antrobus, R. Armstrong, G. Arumugakani, Sofie Ashford, W. Astle, A. Attwood, Steve Austin, C. Bacchelli, T. Bakchoul, T. Bariana, H. Baxendale, David L. Bennett, C. Bethune, Shahnaz Bibi, M. Bitner-Glindzicz, M. Bleda, Harm J. Boggard, P. Bolton-Maggs, C. Booth, John R. Bradley, A. Brady, Matthew Brown, Michael Browning, Christine J. Bryson, Siobhan O. Burns, P. Calleja, N. Canham, J. Carmichael, K. Carss, M. Caulfield, Elizabeth Chalmers, Anita Chandra, Patrick F. Chinnery, M. Chitre, C. Church, E. Clement, Naomi Clements-Brod, V. Clowes, G. Coghlan, P. Collins, Nichola H Cooper, A. Creaser-Myers, Rosa Dacosta, L. Daugherty, Sophie Davies, John Davis, Minka De Vries, P. Deegan, Sri V. V. Deevi, C. Deshpande, Lisa Devlin, Eleanor F. Dewhurst, R. Doffinger, N. Dormand, E. Drewe, David Edgar, W. Egner, W. Erber, M. Erwood, T. Everington, R. Favier, H. Firth, Debra Fletcher, F. Flinter, James C. Fox, Amy J. Frary, K. Freson, B. Furie, A. Furnell, D. Gale, A. Gardham, M. Gattens, N. Ghali, P. Ghataorhe, Rohit R. Ghurye, Simon Gibbs, K. Gilmour, P. Gissen, S. Goddard, Keith Gomez, Pavels Gordins, S. Gräf, D. Greene, A. Greenhalgh, A. Greinacher, S. Grigoriadou, D. Grozeva, Scott Hackett, C. Hadinnapola, Rosie Hague, M. Haimel, Csaba Halmagyi, Tracey Hammerton, Daniel Hart, G. Hayman, J. Heemskerk, R. Henderson, A. Hensiek, Y. Henskens, A. Herwadkar, S. Holden, M. Holder, S. Holder, Fengyuan Hu, A. Huissoon, M. Humbert, Jane A Hurst, R. James, S. Jolles, D. Josifova, R. Kazmi, David Keeling, P. Kelleher, A. Kelly, Fiona Kennedy, David Kiely, N. Kingston, A. Koziell, D. Krishnakumar, Taco W. Kuijpers, D. Kumararatne, M. Kurian, M. Laffan, Michele P. Lambert, H. L. Allen, A. Lawrie, S. Lear, M. Lees, C. Lentaigne, R. Liesner, R. Linger, Hilary J. Longhurst, Lorena E. Lorenzo, R. Machado, R. Mackenzie, R. MacLaren, E. Maher, Jesmeen Maimaris, S. Mangles, A. Manson, R. Mapeta, Hugh S. Markus, Jennifer M. Martin, Larahmie Masati, M. Mathias, Vera Matser, Anna Maw, Elizabeth McDermott, Coleen McJannet, Stuart Meacham, S. Meehan, K. Megy, S. Mehta, C. Millar, S. Moledina, Anthony L Moore, Nicholas W. Morrell, A. Mumford, S. Murng, Elaine Murphy, S. Nejentsev, S. Noorani, P. Nurden, Eric Oksenhendler, W. Ouwehand, S. Papadia, Soo-Mi Park, A. Parker, J. Pasi, Chris Patch, J. Paterson, Jeanette Payne, Andrew J. Peacock, K. Peerlinck, C. Penkett, J. Pepke-Zaba, David J. Perry, Val Pollock, Gary Polwarth, Mark J. Ponsford, W. Qasim, Isabella Quinti, Stuart Rankin, Julia Rankin, Karola Rehnstrom, Evan Reid, Christopher J. Rhodes, Michael Richards, Sylvia Richardson, Alex Richter, Irene Roberts, Matthew T Rondina, E. Rosser, Catherine Roughley, Kevin C. Rue-Albrecht, C. Samarghitean, Alba Sanchis-Juan, R. Sandford, S. Santra, R. Sargur, S. Savic, Sol Schulman, Harald Schulze, R. Scott, M. Scully, Suranjith L. Seneviratne, C. Sewell, O. Shamardina, Deborah Shipley, Ilenia Simeoni, S. Sivapalaratnam, Kenneth Smith, A. Sohal, L. Southgate, Simon Staines, E. Staples, Hans-Jürgen Stauss, Penelope Stein, J. Stephens, K. Stirrups, S. Stock, J. Suntharalingam, R. C. Tait, K. Talks, Yvonne Tan, J. Thachil, James E. D. Thaventhiran, Elizabeth Louise Thomas, Moira J. Thomas, Dorothy A Thompson, A. Thrasher, M. Tischkowitz, Catherine Titterton, Cheng-Hock Toh, M. Toshner, C. Treacy, R. Trembath, Salih Tuna, Wojciech Turek, E. Turro, C. van Geet, Marijke Veltman, J. Vogt, Julie von Ziegenweldt, A. Vonk Noordegraaf, E. Wakeling, Ivy Wanjiku, Timothy Q. Warner, E. Wassmer, Hugh Watkins, A. Webster, S. Welch, S. Westbury, J. Wharton, Deborah Whitehorn, Martin Wilkins, L. Willcocks, C. Williamson, G. Woods, J. Wort, Nigel Yeatman, Patrick Yong, Tim Young, Ping Yu	4	2017	4 🐜
🐜	Exploring the feasibility of delivering standardized genomic care using ophthalmology as an example 8 auth. N. Davison, K. Payne, M. Eden, M. McAllister, S. Roberts, S. Ingram, ... G. Black, G. Hall	4	2017	4 🐜
🐜	Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data 283 auth. Stuart Aitken, H. Firth, J. McRae, Mihail Halachev, U. Kini, M. Parker, M. Lees, K. Lachlan, A. Sarkar, S. Joss, M. Splitt, S. McKee, A. Nemeth, R. Scott, C. Wright, ... J. Marsh, M. Hurles, D. FitzPatrick, T. Fitzgerald, S. Gerety, W. Jones, M. van Kogelenberg, D. King, J. McRae, K.I. Morley, V. Parthiban, S. Al-Turki, K. Ambridge, D. Barrett, T. Bayzetinova, S. Clayton, E. Coomber, S. Gribble, P. Jones, N. Krishnappa, L. E. Mason, A. Middleton, R. Miller, E. Prigmore, D. Rajan, A. Sifrim, A. Tivey, M. Ahmed, N. Akawi, R. Andrews, U. Anjum, H. Archer, R. Armstrong, M. Balasubramanian, R. Banerjee, D. Barelle, P. Batstone, D. Baty, C. Bennett, J. Berg, B. Bernhard, A. P. Bevan, E. Blair, M. Blyth, D. Bohanna, L. Bourdon, D. Bourn, A. Brady, E. Bragin, C. Brewer, L. Brueton, K. Brunstrom, S. Bumpstead, D. Bunyan, J. Burn, J. Burton, N. Canham, B. Castle, K. Chandler, S. Clasper, J. Clayton-Smith, T. Cole, A. Collins, M. Collinson, F. Connell, N. Cooper, H. Cox, L. Cresswell, G. Cross, Y. Crow, P. M. D’Alessandro, T. Dabir, R. Davidson, S. Davies, J. Dean, C. Deshpande, G. Devlin, A. Dixit, A. Dominiczak, C. Donnelly, D. Donnelly, A. Douglas, A. Duncan, J. Eason, S. Edkins, S. Ellard, P. Ellis, F. Elmslie, K. Evans, S. Everest, T. Fendick, R. Fisher, F. Flinter, N. Foulds, A. Fryer, B. Fu, C. Gardiner, L. Gaunt, N. Ghali, R. Gibbons, S. Pereira, J. Goodship, D. Goudie, E. Gray, P. Greene, L. Greenhalgh, L. Harrison, R. Hawkins, S. Hellens, A. Henderson, E. Hobson, S. Holden, S. Holder, G. Hollingsworth, T. Homfray, M. Humphreys, J. Hurst, S. Ingram, M. Irving, J. Jarvis, L. Jenkins, D. Johnson, D. Jones, E. Jones, D. Josifova, S. Joss, B. Kaemba, S. Kazembe, B. Kerr, U. Kini, E. Kinning, G. Kirby, C. Kirk, E. Kivuva, A. Kraus, D. Kumar, K. Lachlan, W. Lam, A. Lampe, C. Langman, M. Lees, D. Lim, G. Lowther, S. Lynch, A. Magee, E. Maher, S. Mansour, K. Marks, K. 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, A. Morris, J. Morton, H. Mugalaasi, V. Murday, L. Nevitt, R. Newbury-Ecob, A. Norman, R. O’Shea, C. Ogilvie, S. Park, M. Parker, C. Patel, J. Paterson, S. Payne, J. Phipps, D. Pilz, D. Porteous, N. Pratt, K. Prescott, S. Price, A. Pridham, A. Proctor, H. Purnell, N. Ragge, J. Rankin, L. Raymond, D. Rice, L. Robert, E. Roberts, G. Roberts, J. Roberts, P. Roberts, A. Ross, E. Rosser, A. Saggar, S. Samant, R. Sandford, A. Sarkar, S. Schweiger, C. Scott, R. 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, A. Smith, B. Smith, K. Smith, S. Smithson, L. Sneddon, M. Splitt, M. Squires, F. Stewart, H. Stewart, M. Suri, V. Sutton, G. Swaminathan, E. Sweeney, K. Tatton-Brown, C. Taylor, R. Taylor, M. Tein, I. Temple, J. Thomson, J. 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, S. Wilcox, D. Williams, N. Williams, G. Woods, C. Wragg, M. Wright, F. Yang, M. Yau, N. Carter, M. Parker, H. Firth, D. FitzPatrick, C. Wright, J. Barrett, M. Hurles	3	2019	3 🐜
🐜	Clinical and genetic findings in TRPM1‐related congenital stationary night blindness 10 auth. Christos Iosifidis, Jingshu Liu, Theodora Gale, J. Ellingford, Christopher Campbell, S. Ingram, ... K. Chandler, N. Parry, G. Black, P. Sergouniotis	2	2022	2 🐜