Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.


The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page


My NCBI Filters

Results by year

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

Year Number of Results
1983 1
1986 3
1987 2
1990 1
1991 1
1992 2
1993 10
1994 6
1995 4
1996 5
1997 17
1998 8
1999 8
2000 6
2001 5
2002 2
2003 5
2004 2
2005 2
2006 3
2007 3
2008 2
2009 2
2010 1
2011 8
2012 9
2013 5
2014 6
2015 8
2016 4
2017 12
2018 5
2019 4
2020 6
2021 4
2022 3
2023 4
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

165 results

Results by year

Filters applied: . Clear all
Page 1
Mutation in the alpha-synuclein gene identified in families with Parkinson's disease.
Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, Root H, Rubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, Di Iorio G, Golbe LI, Nussbaum RL. Polymeropoulos MH, et al. Among authors: chandrasekharappa s. Science. 1997 Jun 27;276(5321):2045-7. doi: 10.1126/science.276.5321.2045. Science. 1997. PMID: 9197268
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.
Genomic Landscape of Patients with Germline RUNX1 Variants and Familial Platelet Disorder with Myeloid Malignancy.
Yu K, Deuitch N, Merguerian M, Cunningham L, Davis J, Bresciani E, Diemer J, Andrews E, Young A, Donovan F, Sood R, Craft K, Chong S, Chandrasekharappa S, Mullikin J, Liu PP. Yu K, et al. Among authors: chandrasekharappa s. bioRxiv [Preprint]. 2023 Jan 17:2023.01.17.524290. doi: 10.1101/2023.01.17.524290. bioRxiv. 2023. PMID: 36789433 Free PMC article. Updated. Preprint.
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.
Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy.
Yu K, Deuitch N, Merguerian M, Cunningham L, Davis J, Bresciani E, Diemer J, Andrews E, Young A, Donovan F, Sood R, Craft K, Chong S, Chandrasekharappa S, Mullikin J, Liu PP. Yu K, et al. Among authors: chandrasekharappa s. Blood Adv. 2024 Jan 23;8(2):497-511. doi: 10.1182/bloodadvances.2023011165. Blood Adv. 2024. PMID: 38019014 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.
165 results