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

Year Number of Results
2008 4
2011 3
2012 2
2013 4
2014 10
2015 14
2016 16
2017 17
2018 14
2019 13
2020 20
2021 23
2022 23
2023 1
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149 results
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Page 1
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.
Andrews KA, Ascher DB, Pires DEV, Barnes DR, Vialard L, Casey RT, Bradshaw N, Adlard J, Aylwin S, Brennan P, Brewer C, Cole T, Cook JA, Davidson R, Donaldson A, Fryer A, Greenhalgh L, Hodgson SV, Irving R, Lalloo F, McConachie M, McConnell VPM, Morrison PJ, Murday V, Park SM, Simpson HL, Snape K, Stewart S, Tomkins SE, Wallis Y, Izatt L, Goudie D, Lindsay RS, Perry CG, Woodward ER, Antoniou AC, Maher ER. Andrews KA, et al. Among authors: ascher db. J Med Genet. 2018 Jun;55(6):384-394. doi: 10.1136/jmedgenet-2017-105127. Epub 2018 Jan 31. J Med Genet. 2018. PMID: 29386252 Free PMC article.
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Stephenson SEM, Costain G, Blok LER, Silk MA, Nguyen TB, Dong X, Alhuzaimi DE, Dowling JJ, Walker S, Amburgey K, Hayeems RZ, Rodan LH, Schwartz MA, Picker J, Lynch SA, Gupta A, Rasmussen KJ, Schimmenti LA, Klee EW, Niu Z, Agre KE, Chilton I, Chung WK, Revah-Politi A, Au PYB, Griffith C, Racobaldo M, Raas-Rothschild A, Ben Zeev B, Barel O, Moutton S, Morice-Picard F, Carmignac V, Cornaton J, Marle N, Devinsky O, Stimach C, Wechsler SB, Hainline BE, Sapp K, Willems M, Bruel AL, Dias KR, Evans CA, Roscioli T, Sachdev R, Temple SEL, Zhu Y, Baker JJ, Scheffer IE, Gardiner FJ, Schneider AL, Muir AM, Mefford HC, Crunk A, Heise EM, Millan F, Monaghan KG, Person R, Rhodes L, Richards S, Wentzensen IM, Cogné B, Isidor B, Nizon M, Vincent M, Besnard T, Piton A, Marcelis C, Kato K, Koyama N, Ogi T, Goh ES, Richmond C, Amor DJ, Boyce JO, Morgan AT, Hildebrand MS, Kaspi A, Bahlo M, Friðriksdóttir R, Katrínardóttir H, Sulem P, Stefánsson K, Björnsson HT, Mandelstam S, Morleo M, Mariani M; TUDP Study Group, Scala M, Accogli A, Torella A, Capra V, Wallis M, Jansen S, Weisfisz Q, de Haan H, Sadedin S; Broad Center for Mendelian Genomics, Lim SC, White SM, Ascher DB, Schenck A, Lockhart PJ, Christodoulou J, Tan TY. Stephenson SEM, et al. Among authors: ascher db. Am J Hum Genet. 2022 Apr 7;109(4):601-617. doi: 10.1016/j.ajhg.2022.03.002. Am J Hum Genet. 2022. PMID: 35395208 Free PMC article.
Structural landscapes of PPI interfaces.
Rodrigues CHM, Pires DEV, Blundell TL, Ascher DB. Rodrigues CHM, et al. Among authors: ascher db. Brief Bioinform. 2022 Jul 18;23(4):bbac165. doi: 10.1093/bib/bbac165. Brief Bioinform. 2022. PMID: 35656714 Free PMC article. Review.
ProCarbDB: a database of carbohydrate-binding proteins.
Copoiu L, Torres PHM, Ascher DB, Blundell TL, Malhotra S. Copoiu L, et al. Among authors: ascher db. Nucleic Acids Res. 2020 Jan 8;48(D1):D368-D375. doi: 10.1093/nar/gkz860. Nucleic Acids Res. 2020. PMID: 31598690 Free PMC article.
Identifying Genotype-Phenotype Correlations via Integrative Mutation Analysis.
Airey E, Portelli S, Xavier JS, Myung YC, Silk M, Karmakar M, Velloso JPL, Rodrigues CHM, Parate HH, Garg A, Al-Jarf R, Barr L, Geraldo JA, Rezende PM, Pires DEV, Ascher DB. Airey E, et al. Among authors: ascher db. Methods Mol Biol. 2021;2190:1-32. doi: 10.1007/978-1-0716-0826-5_1. Methods Mol Biol. 2021. PMID: 32804359
ThermoMutDB: a thermodynamic database for missense mutations.
Xavier JS, Nguyen TB, Karmarkar M, Portelli S, Rezende PM, Velloso JPL, Ascher DB, Pires DEV. Xavier JS, et al. Among authors: ascher db. Nucleic Acids Res. 2021 Jan 8;49(D1):D475-D479. doi: 10.1093/nar/gkaa925. Nucleic Acids Res. 2021. PMID: 33095862 Free PMC article.
Combining structure and genomics to understand antimicrobial resistance.
Tunstall T, Portelli S, Phelan J, Clark TG, Ascher DB, Furnham N. Tunstall T, et al. Among authors: ascher db. Comput Struct Biotechnol J. 2020 Oct 29;18:3377-3394. doi: 10.1016/j.csbj.2020.10.017. eCollection 2020. Comput Struct Biotechnol J. 2020. PMID: 33294134 Free PMC article. Review.
Distinguishing between PTEN clinical phenotypes through mutation analysis.
Portelli S, Barr L, de Sá AGC, Pires DEV, Ascher DB. Portelli S, et al. Among authors: ascher db. Comput Struct Biotechnol J. 2021 May 21;19:3097-3109. doi: 10.1016/j.csbj.2021.05.028. eCollection 2021. Comput Struct Biotechnol J. 2021. PMID: 34141133 Free PMC article.
A novel deep intronic variant strongly associates with Alkaptonuria.
Lai CY, Tsai IJ, Chiu PC, Ascher DB, Chien YH, Huang YH, Lin YL, Hwu WL, Lee NC. Lai CY, et al. Among authors: ascher db. NPJ Genom Med. 2021 Oct 22;6(1):89. doi: 10.1038/s41525-021-00252-2. NPJ Genom Med. 2021. PMID: 34686677 Free PMC article.
149 results