Gapped BLAST and PSI-BLAST: a new generation of protein database search programs SF Altschul, TL Madden, AA Schäffer, J Zhang, Z Zhang, W Miller, ... Nucleic acids research 25 (17), 3389-3402, 1997 | 86389 | 1997 |
Inflammatory bowel disease and mutations affecting the interleukin-10 receptor EO Glocker, D Kotlarz, K Boztug, EM Gertz, AA Schäffer, F Noyan, M Perro, ... New England Journal of Medicine 361 (21), 2033-2045, 2009 | 1670 | 2009 |
Improving the accuracy of PSI-BLAST protein database searches with composition-based statistics and other refinements AA Schäffer, L Aravind, TL Madden, S Shavirin, JL Spouge, YI Wolf, ... Nucleic acids research 29 (14), 2994-3005, 2001 | 1640 | 2001 |
Faster sequential genetic linkage computations. RW Cottingham Jr, RM Idury, AA Schäffer American journal of human genetics 53 (1), 252, 1993 | 1588 | 1993 |
Database indexing for production MegaBLAST searches A Morgulis, G Coulouris, Y Raytselis, TL Madden, R Agarwala, ... Bioinformatics 24 (16), 1757-1764, 2008 | 1412 | 2008 |
STAT3 mutations in the hyper-IgE syndrome SM Holland, FR DeLeo, HZ Elloumi, AP Hsu, G Uzel, N Brodsky, ... New England Journal of Medicine 357 (16), 1608-1619, 2007 | 1399 | 2007 |
Protein database searches using compositionally adjusted substitution matrices SF Altschul, JC Wootton, EM Gertz, R Agarwala, A Morgulis, AA Schäffer, ... The FEBS journal 272 (20), 5101-5109, 2005 | 1334 | 2005 |
Mapping of a gene for Parkinson's disease to chromosome 4q21-q23 MH Polymeropoulos, JJ Higgins, LI Golbe, WG Johnson, SE Ide, ... Science 274 (5290), 1197-1199, 1996 | 1122 | 1996 |
Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency B Grimbacher, A Hutloff, M Schlesier, E Glocker, K Warnatz, R Dräger, ... Nature immunology 4 (3), 261-268, 2003 | 894 | 2003 |
A homozygous CARD9 mutation in a family with susceptibility to fungal infections EO Glocker, A Hennigs, M Nabavi, AA Schäffer, C Woellner, U Salzer, ... New England Journal of Medicine 361 (18), 1727-1735, 2009 | 890 | 2009 |
Domain enhanced lookup time accelerated BLAST GM Boratyn, AA Schäffer, R Agarwala, SF Altschul, DJ Lipman, ... Biology direct 7, 1-14, 2012 | 883 | 2012 |
Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations D Schubert, C Bode, R Kenefeck, TZ Hou, JB Wing, A Kennedy, ... Nature medicine 20 (12), 1410-1416, 2014 | 873 | 2014 |
Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans U Salzer, HM Chapel, ADB Webster, Q Pan-Hammarström, ... Nature genetics 37 (8), 820-828, 2005 | 795 | 2005 |
Avoiding recomputation in linkage analysis AA Schaeffer, SK Gupta, K Shriram, RW Cottingham, Jr Human heredity 44 (4), 225-237, 1994 | 789 | 1994 |
Graph spanners D Peleg, AA Schäffer Journal of graph theory 13 (1), 99-116, 1989 | 748 | 1989 |
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease) C Klein, M Grudzien, G Appaswamy, M Germeshausen, I Sandrock, ... Nature genetics 39 (1), 86-92, 2007 | 585 | 2007 |
A genetic linkage map of microsatellites in the domestic cat (Felis catus) M Menotti-Raymond, VA David, LA Lyons, AA Schäffer, JF Tomlin, ... Genomics 57 (1), 9-23, 1999 | 577 | 1999 |
Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity G Lopez-Herrera, G Tampella, Q Pan-Hammarström, P Herholz, ... The American Journal of Human Genetics 90 (6), 986-1001, 2012 | 559 | 2012 |
Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6q25. 2-27. H Matsumine, M Saito, S Shimoda-Matsubayashi, H Tanaka, A Ishikawa, ... American journal of human genetics 60 (3), 588, 1997 | 554 | 1997 |
Composition-based statistics and translated nucleotide searches: improving the TBLASTN module of BLAST EM Gertz, YK Yu, R Agarwala, AA Schäffer, SF Altschul BMC biology 4, 1-14, 2006 | 520 | 2006 |