BetterScholar BetterScholar
12
Role
Title
Level Year L/R
๐Ÿœ A 20-year perspective on the International Fanconi Anemia Registry (IFAR).
8 auth. D. Kutler, Bhuvanesh Singh, J. Satagopan, S. Batish, M. Berwick, P. Giampietro, ... H. Hanenberg, A. Auerbach
9 2003
9
๐Ÿœ
๐Ÿœ Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer
20 auth. S. Reid, D. Schindler, H. Hanenberg, K. Barker, S. Hanks, R. Kalb, K. Neveling, P. Kelly, S. Seal, M. Freund, ... M. Wurm, S. Batish, Francis P. Lach, S. Yetgin, H. Neitzel, H. Ariffin, M. Tischkowitz, C. Mathew, A. Auerbach, N. Rahman
9 2007
9
๐Ÿœ
๐Ÿœ The spectrum of SCN1A-related infantile epileptic encephalopathies.
23 auth. L. Harkin, J. Mcmahon, Xenia Iona, L. Dibbens, J. Pelekanos, S. Zuberi, L. Sadleir, E. Andermann, D. Gill, K. Farrell, ... M. Connolly, Thorsten Stanley, M. Harbord, F. Andermann, Jing Wang, S. Batish, Jeffrey G Jones, W. Seltzer, A. Gardner, G. Sutherland, S. Berkovic, J. Mulley, I. Scheffer
8 2007
8
๐Ÿœ
๐Ÿฌ The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans
Feng Zhang, M. Khajavi, A. Connolly, C. Towne, S. Batish, J. Lupski
8 2009
8
๐Ÿฌ
๐Ÿœ The Alzheimerโ€™s Association external quality control program for cerebrospinal fluid biomarkers
78 auth. N. Mattsson, U. Andreasson, Staffan Persson, H. Arai, S. Batish, S. Bernardini, L. Bocchio-Chiavetto, M. Blankenstein, M. Carrillo, S. Chalbot, E. Coart, D. Chiasserini, Neal Cutler, Gunilla Dahlfors, S. Duller, ... A. Fagan, O. Forlenza, G. Frisoni, D. Galasko, D. Galimberti, H. Hampel, A. Handberg, M. Heneka, A. Z. Herskovits, S. Herukka, D. Holtzman, C. Humpel, B. Hyman, K. Iqbal, M. Jucker, S. Kaeser, E. Kaiser, E. Kapaki, D. Kidd, P. Klivรฉnyi, Cindy S. Knudsen, M. Kummer, J. Lui, A. Lladรณ, P. Lewczuk, Qiao-Xin Li, Ralph M. Martins, C. Masters, J. Mcauliffe, M. Mercken, A. Moghekar, J. Molinuevo, T. Montine, W. Nowatzke, Richard O'Brien, M. Otto, G. Paraskevas, L. Parnetti, R. Petersen, D. Prvulovic, Herman P.M. de Reus, R. Rissman, E. Scarpini, Alessandro Stefani, H. Soininen, J. Schrรถder, L. Shaw, A. Skinningsrud, Brith Skrogstad, A. Spreer, L. Talib, C. Teunissen, J. Trojanowski, H. Tumani, R. Umek, B. V. Broeck, H. Vanderstichele, L. Vรฉcsei, M. Verbeek, M. Windisch, Jing Zhang, H. Zetterberg, K. Blennow
8 2011
8
๐Ÿœ
๐Ÿœ The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia
15 auth. O. Levran, C. Attwooll, R. Henry, K. Milton, K. Neveling, P. Rรญo, S. Batish, R. Kalb, E. Velleuer, S. Barral, ... J. Ott, J. Petrini, D. Schindler, H. Hanenberg, A. Auerbach
8 2005
8
๐Ÿœ
๐Ÿœ High incidence of head and neck squamous cell carcinoma in patients with Fanconi anemia.
9 auth. D. Kutler, A. Auerbach, J. Satagopan, P. Giampietro, S. Batish, A. Huvos, ... A. Goberdhan, J. Shah, Bhuvanesh Singh
8 2003
8
๐Ÿœ
๐Ÿœ Positional cloning of the Fanconi anaemia group A gene
35 auth. S. Apostolou, S. Whitmore, J. Crawford, G. Lennon, G. Sutherland, D. Callen, Leonarda lanzano, M. Savino, M. dโ€™Apolito, Angelo Notarangeio, E. Memeo, M. R. Piemontese, L. Zelante, A. Savoia, R. Gibson, ... A. Tipping, N. Morgan, S. Hassock, S. Jansen, T. Ravel, Carola Van Berkell, J. Pronk, D. Easton, C. Mathew, O. Levran, P. Verlander, S. Batish, Tamar Erlich, A. Auerbach, A. Cleton-Jansen, E. Moerland, C. Cornelisse, N. Doggett, L. Deaven, R. Moyzis
8 1996
8
๐Ÿœ
๐Ÿœ Somatic mosaicism in Fanconi anemia: Evidence of genotypic reversion in lymphohematopoietic stem cells
9 auth. J. Gregory, J. Wagner, P. Verlander, O. Levran, S. Batish, C. Eide, ... Amy Steffenhagen, B. Hirsch, A. Auerbach
7 2001
7
๐Ÿœ
๐Ÿœ Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia.
13 auth. J. Wagner, J. Tolar, O. Levran, T. Scholl, Amie Deffenbaugh, J. Satagopan, L. Ben-Porat, K. Mah, S. Batish, D. Kutler, ... M. MacMillan, H. Hanenberg, A. Auerbach
7 2004
7
๐Ÿœ
๐Ÿœ Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia.
16 auth. K. Offit, O. Levran, Brian Mullaney, K. Mah, K. Nafa, S. Batish, Raffaella Diotti, H. Schneider, Amie Deffenbaugh, T. Scholl, ... V. Proud, M. Robson, L. Norton, N. Ellis, H. Hanenberg, A. Auerbach
7 2003
7
๐Ÿœ
๐Ÿœ The allelic spectrum of Charcotโ€“Marieโ€“Tooth disease in over 17,000 individuals with neuropathy
16 auth. C. Divincenzo, Christopher D. Elzinga, Adam C Medeiros, I. Karbassi, Jeremiah Jones, Matthew C Evans, C. Braastad, Crystal M Bishop, M. Jaremko, Zhenyuan Wang, ... Khalida Liaquat, C. Hoffman, Michelle York, S. Batish, J. Lupski, J. Higgins
7 2014
7
๐Ÿœ