C. V. van Karnebeek's Profile

Role	Title	Level	Year	L/R
🐜	Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. 14 auth. S. Stockler, B. Plecko, S. Gospe, M. Coulter-Mackie, M. Connolly, C. V. van Karnebeek, S. Mercimek-Mahmutoglu, H. Hartmann, G. Scharer, E. Struijs, ... I. Tein, C. Jakobs, P. Clayton, J. V. Van Hove	8	2011	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 🐜
🦁	Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review. C. V. van Karnebeek, S. Stockler	7	2012	7 🦁
🐬	A proposed nosology of inborn errors of metabolism C. Ferreira, C. V. van Karnebeek, J. Vockley, N. Blau	7	2018	7 🐬
🐜	A novel recurrent mutation in ATP1A3 causes CAPOS syndrome 12 auth. M. Demos, C. V. van Karnebeek, C. Ross, S. Adam, Yaoqing Shen, S. Zhan, ... C. Shyr, G. Horvath, M. Suri, A. Fryer, Steven J. M. Jones, J. Friedman	7	2014	7 🐜
🐜	Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations 11 auth. J. Chinsky, Rani H. Singh, C. Ficicioglu, C. V. van Karnebeek, M. Grompe, G. Mitchell, ... S. Waisbren, M. Gucsavas-Calikoglu, M. Wasserstein, Katie Coakley, C. Scott	7	2017	7 🐜
🦁	Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum. 12 auth. C. V. van Karnebeek, Sylvia A Tiebout, J. Niermeijer, B. Poll‐The, A. Ghani, C. Coughlin, ... J. V. Van Hove, J. W. Richter, H. Christen, R. Gallagher, H. Hartmann, S. Stockler-Ipsiroglu	7	2016	7 🦁
🐜	Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients 18 auth. K. Coene, L. Kluijtmans, E. van der Heeft, U. Engelke, Siebolt de Boer, Brechtje Hoegen, Hanneke J T Kwast, M. van de Vorst, M. Huigen, I. Keularts, ... M. Schreuder, C. V. van Karnebeek, S. Wortmann, M. D. De Vries, M. Janssen, C. Gilissen, J. Engel, R. Wevers	7	2018	7 🐜
🦁	NANS-mediated synthesis of sialic acid is required for brain and skeletal development 46 auth. C. V. van Karnebeek, L. Bonafė, X. Wen, M. Tarailo-Graovac, Sara Balzano, B. Royer-Bertrand, A. Ashikov, L. Garavelli, I. Mammi, L. Turolla, C. Breen, D. Donnai, V. Cormier-Daire, D. Heron, G. Nishimura, ... Shinichi Uchikawa, Belinda Campos-Xavier, A. Rossi, T. Hennet, Koroboshka Brand-Arzamendi, J. Rozmus, K. Harshman, Brian J. Stevenson, E. Girardi, G. Superti-Furga, T. Dewan, A. Collingridge, Jessie Halparin, C. Ross, M. V. Van Allen, A. Rossi, U. Engelke, L. Kluijtmans, E. van der Heeft, H. Renkema, A. D. de Brouwer, Karin Huijben, Fokje S M Zijlstra, T. Heise, T. Boltje, W. Wasserman, C. Rivolta, S. Unger, D. Lefeber, R. Wevers, A. Superti-Furga	7	2016	7 🦁
🐬	FLAGS, frequently mutated genes in public exomes C. Shyr, M. Tarailo-Graovac, Michael Gottlieb, Jessica J. Y. Lee, C. V. van Karnebeek, W. Wasserman	7	2014	7 🐬