BetterScholar BetterScholar
12
Role
Title
Level Year L/R
🐜 Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome
19 auth. R. Varon, C. Vissinga, M. Platzer, K. Cerosaletti, K. Chrzanowska, K. Saar, G. Beckmann, E. Seemanová, P. R. Cooper, N. Nowak, ... M. Stumm, C. Weemaes, R. Gatti, R. Wilson, M. Digweed, A. Rosenthal, K. Sperling, P. Concannon, A. Reis
10 1998
10
🐜
🐜 Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
139 auth. B. Thompson, A. Spurdle, J. Plazzer, M. Greenblatt, K. Akagi, F. Al-Mulla, B. Bapat, I. Bernstein, G. Capellá, J. D. den Dunnen, D. du Sart, A. Fabre, M. Farrell, S. Farrington, I. Frayling, ... T. Frebourg, D. Goldgar, Christopher D. Heinen, E. Holinski-Feder, M. Kohonen-Corish, K. L. Robinson, S. Leung, A. Martins, P. Møller, M. Morak, M. Nystrom, P. Peltomaki, M. Pineda, M. Qi, R. Ramesar, L. Rasmussen, B. Royer-Pokora, R. Scott, R. Sijmons, S. Tavtigian, C. Tops, Thomas K. Weber, J. Wijnen, M. Woods, F. Macrae, M. Genuardi, A. Castillejo, A. Sexton, Anthony K. W. Chan, A. Viel, Amie M. Blanco, A. French, A. Laner, A. Wagner, A. V. D. van den Ouweland, A. Mensenkamp, A. Payá, B. Betz, B. Redeker, B. Smith, C. Espenschied, C. Cummings, C. Engel, Claudia Fornes, Cristian Valenzuela, C. Alenda, D. Buchanan, D. Barana, D. Konstantinova, D. Cairns, E. Glaser, Felipe C C Silva, F. Lalloo, F. Crucianelli, F. Hogervorst, G. Casey, I. Tomlinson, I. Blanco, Isabel Villar, J. García-Planells, J. Bigler, J. Shia, J. Martínez-López, J. Gille, J. Hopper, J. Potter, J. Soto, Jukka Kantelinen, Kate Ellis, K. Mann, L. Varesco, Liying Zhang, L. Le Marchand, M. Marafie, M. Nordling, M. Tibiletti, M. Kahan, M. Ligtenberg, M. Clendenning, M. Jenkins, M. Speevak, M. Digweed, M. Kloor, M. Hitchins, Megan Myers, M. Aronson, Mev Dominguez Valentin, M. Kutsche, M. Parsons, M. Walsh, Minttu Kansikas, M. N. Zahary, M. Pedroni, Nao Heider, N. Poplawski, N. Rahner, N. Lindor, P. Sala, P. Nan, P. Propping, P. Newcomb, R. Sarin, R. Haile, R. Hofstra, Robyn Ward, R. Tricarico, R. Bacares, S. Young, Sergio Chialina, S. Kovalenko, Shanaka R. Gunawardena, Sira Moreno, S. Ho, S. Yuen, S. Thibodeau, S. Gallinger, Terrilea Burnett, Therese Teitsch, T. Chan, Thomas Smyrk, T. Cranston, V. Psofaki, V. Steinke-Lange, V. Barberá
8 2013
8
🐜
🐜 Human Fanconi anemia monoubiquitination pathway promotes homologous DNA repair.
8 auth. K. Nakanishi, Yun‐Gui Yang, A. Pierce, T. Taniguchi, M. Digweed, A. D’Andrea, ... Zhao-Qi Wang, M. Jasin
8 2005
8
🐜
🐜 The Fanconi anaemia group G gene FANCG is identical with XRCC9
16 auth. J. Winter, Q. Waisfisz, M. Rooimans, C. V. Berkel, L. Bosnoyan-Collins, N. Alon, M. Carreau, O. Bender, I. Demuth, D. Schindler, ... J. Pronk, F. Arwert, H. Hoehn, M. Digweed, M. Buchwald, H. Joenje
8 1998
8
🐜
🐜 Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita
7 auth. T. Vulliamy, R. Beswick, M. Kirwan, A. Marrone, M. Digweed, A. Walne, ... I. Dokal
8 2008
8
🐜
🐜 Isolation of a cDNA representing the Fanconi anemia complementation group E gene.
20 auth. J. Winter, F. Léveillé, C. V. Berkel, M. Rooimans, L. V. D. Weel, Jûrgen Steltenpool, Ilja Demuth, N. Morgan, N. Alon, L. Bosnoyan-Collins, ... J. Lightfoot, P. Leegwater, Q. Waisfisz, K. Komatsu, F. Arwert, J. Pronk, C. Mathew, M. Digweed, M. Buchwald, H. Joenje
8 2000
8
🐜
🦁 Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks.
M. Digweed, K. Sperling
7 2004
7
🦁
🐜 Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group.
22 auth. L. Faivre, P. Guardiola, C. Lewis, I. Dokal, W. Ebell, Ariana Zatterale, Ç. Altay, J. Poole, D. Stones, M. L. Kwee, ... M. V. Weel-Sipman, C. Havenga, N. Morgan, J. Winter, M. Digweed, A. Savoia, J. Pronk, T. D. Ravel, S. Jansen, H. Joenje, E. Gluckman, C. Mathew
7 2000
7
🐜
🐜 Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK)
11 auth. A. Reis, H. Hennies, L. Langbein, M. Digweed, D. Mischke, M. Drechsler, ... E. Schröck, B. Royer-Pokora, W. Franke, K. Sperling, W. Küster
7 1994
7
🐜
🐢 Nijmegen breakage syndrome (NBS)
K. Chrzanowska, H. Gregorek, B. Dembowska-Bagińska, M. Kalina, M. Digweed
7 2012
7
🐢
🐜 An essential function for NBS1 in the prevention of ataxia and cerebellar defects
8 auth. P. Frappart, W. Tong, I. Demuth, I. Radovanovic, Z. Herceg, A. Aguzzi, ... M. Digweed, Zhao-Qi Wang
7 2005
7
🐜
🐜 Nbn heterozygosity renders mice susceptible to tumor formation and ionizing radiation-induced tumorigenesis.
9 auth. Valérie Dumon-Jones, P. Frappart, W. Tong, Giangadharan Sajithlal, W. Hulla, G. Schmid, ... Z. Herceg, M. Digweed, Zhao-Qi Wang
7 2003
7
🐜