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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1983 1
1986 3
1987 1
1990 1
1991 1
1992 2
1993 7
1994 6
1995 4
1996 2
1997 16
1998 6
1999 7
2000 6
2001 5
2002 2
2003 5
2004 1
2005 2
2006 1
2007 2
2008 1
2009 2
2010 1
2011 7
2012 7
2013 4
2014 4
2015 6
2016 4
2017 12
2018 5
2019 3
2020 6
2021 4
2022 3
2023 3
2024 1

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139 results

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Page 1
Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer.
Webster ALH, Sanders MA, Patel K, Dietrich R, Noonan RJ, Lach FP, White RR, Goldfarb A, Hadi K, Edwards MM, Donovan FX, Hoogenboezem RM, Jung M, Sridhar S, Wiley TF, Fedrigo O, Tian H, Rosiene J, Heineman T, Kennedy JA, Bean L, Rosti RO, Tryon R, Gonzalez AM, Rosenberg A, Luo JD, Carroll TS, Shroff S, Beaumont M, Velleuer E, Rastatter JC, Wells SI, Surrallés J, Bagby G, MacMillan ML, Wagner JE, Cancio M, Boulad F, Scognamiglio T, Vaughan R, Beaumont KG, Koren A, Imielinski M, Chandrasekharappa SC, Auerbach AD, Singh B, Kutler DI, Campbell PJ, Smogorzewska A. Webster ALH, et al. Among authors: chandrasekharappa sc. Nature. 2022 Dec;612(7940):495-502. doi: 10.1038/s41586-022-05253-4. Epub 2022 Nov 30. Nature. 2022. PMID: 36450981 Free PMC article.
Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease.
Zhou Q, Wang H, Schwartz DM, Stoffels M, Park YH, Zhang Y, Yang D, Demirkaya E, Takeuchi M, Tsai WL, Lyons JJ, Yu X, Ouyang C, Chen C, Chin DT, Zaal K, Chandrasekharappa SC, Hanson EP, Yu Z, Mullikin JC, Hasni SA, Wertz IE, Ombrello AK, Stone DL, Hoffmann P, Jones A, Barham BK, Leavis HL, van Royen-Kerkof A, Sibley C, Batu ED, Gül A, Siegel RM, Boehm M, Milner JD, Ozen S, Gadina M, Chae J, Laxer RM, Kastner DL, Aksentijevich I. Zhou Q, et al. Among authors: chandrasekharappa sc. Nat Genet. 2016 Jan;48(1):67-73. doi: 10.1038/ng.3459. Epub 2015 Dec 7. Nat Genet. 2016. PMID: 26642243 Free PMC article.
A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.
Kimble DC, Lach FP, Gregg SQ, Donovan FX, Flynn EK, Kamat A, Young A, Vemulapalli M, Thomas JW, Mullikin JC, Auerbach AD, Smogorzewska A, Chandrasekharappa SC. Kimble DC, et al. Among authors: chandrasekharappa sc. Hum Mutat. 2018 Feb;39(2):237-254. doi: 10.1002/humu.23366. Epub 2017 Nov 22. Hum Mutat. 2018. PMID: 29098742 Free PMC article.
Common genetic susceptibility loci link PFAPA syndrome, Behçet's disease, and recurrent aphthous stomatitis.
Manthiram K, Preite S, Dedeoglu F, Demir S, Ozen S, Edwards KM, Lapidus S, Katz AE; Genomic Ascertainment Cohort; Feder HM Jr, Lawton M, Licameli GR, Wright PF, Le J, Barron KS, Ombrello AK, Barham B, Romeo T, Jones A, Srinivasalu H, Mudd PA, DeBiasi RL, Gül A, Marshall GS, Jones OY, Chandrasekharappa SC, Stepanovskiy Y, Ferguson PJ, Schwartzberg PL, Remmers EF, Kastner DL. Manthiram K, et al. Among authors: chandrasekharappa sc. Proc Natl Acad Sci U S A. 2020 Jun 23;117(25):14405-14411. doi: 10.1073/pnas.2002051117. Epub 2020 Jun 9. Proc Natl Acad Sci U S A. 2020. PMID: 32518111 Free PMC article.
Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.
Truty R, Rojahn S, Ouyang K, Kautzer C, Kennemer M, Pineda-Alvarez D, Johnson B, Stafford A, Basel-Salmon L, Saitta S, Slavotinek A, Chandrasekharappa SC, Suarez CJ, Burnett L, Nussbaum RL, Aradhya S. Truty R, et al. Among authors: chandrasekharappa sc. Am J Hum Genet. 2023 Apr 6;110(4):551-564. doi: 10.1016/j.ajhg.2023.02.013. Epub 2023 Mar 17. Am J Hum Genet. 2023. PMID: 36933558 Free PMC article.
Molecular pathology of the MEN1 gene.
Agarwal SK, Lee Burns A, Sukhodolets KE, Kennedy PA, Obungu VH, Hickman AB, Mullendore ME, Whitten I, Skarulis MC, Simonds WF, Mateo C, Crabtree JS, Scacheri PC, Ji Y, Novotny EA, Garrett-Beal L, Ward JM, Libutti SK, Richard Alexander H, Cerrato A, Parisi MJ, Santa Anna-A S, Oliver B, Chandrasekharappa SC, Collins FS, Spiegel AM, Marx SJ. Agarwal SK, et al. Among authors: chandrasekharappa sc. Ann N Y Acad Sci. 2004 Apr;1014:189-98. doi: 10.1196/annals.1294.020. Ann N Y Acad Sci. 2004. PMID: 15153434 Review.
Familial breast cancer. Approaching the isolation of a susceptibility gene.
Weber BL, Abel KJ, Brody LC, Flejter WL, Chandrasekharappa SC, Couch FJ, Merajver SD, Collins FS. Weber BL, et al. Among authors: chandrasekharappa sc. Cancer. 1994 Aug 1;74(3 Suppl):1013-20. doi: 10.1002/1097-0142(19940801)74:3+<1013::aid-cncr2820741507>3.0.co;2-#. Cancer. 1994. PMID: 8039134 Review.
Pancytopenia and thrombosis defects in zebrafish mutants of Fanconi anemia genes.
Raman R, Ramanagoudr-Bhojappa R, Dhinoja S, Ramaswami M, Carrington B, Jagadeeswaran P, Chandrasekharappa SC. Raman R, et al. Among authors: chandrasekharappa sc. Blood Cells Mol Dis. 2022 Mar;93:102640. doi: 10.1016/j.bcmd.2021.102640. Epub 2021 Dec 29. Blood Cells Mol Dis. 2022. PMID: 34991062 Free PMC article.
139 results