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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Pagnamenta AT, et al. Among authors: dhalla f. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
Sequencing of human genomes with nanopore technology.
Bowden R, Davies RW, Heger A, Pagnamenta AT, de Cesare M, Oikkonen LE, Parkes D, Freeman C, Dhalla F, Patel SY, Popitsch N, Ip CLC, Roberts HE, Salatino S, Lockstone H, Lunter G, Taylor JC, Buck D, Simpson MA, Donnelly P. Bowden R, et al. Among authors: dhalla f. Nat Commun. 2019 Apr 23;10(1):1869. doi: 10.1038/s41467-019-09637-5. Nat Commun. 2019. PMID: 31015479 Free PMC article.
Inborn errors of thymic stromal cell development and function.
Kreins AY, Maio S, Dhalla F. Kreins AY, et al. Among authors: dhalla f. Semin Immunopathol. 2021 Feb;43(1):85-100. doi: 10.1007/s00281-020-00826-9. Epub 2020 Nov 30. Semin Immunopathol. 2021. PMID: 33257998 Free PMC article. Review.
FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiency.
Rota IA, Handel AE, Maio S, Klein F, Dhalla F, Deadman ME, Cheuk S, Newman JA, Michaels YS, Zuklys S, Prevot N, Hublitz P, Charles PD, Gkazi AS, Adamopoulou E, Qasim W, Davies EG, Hanson I, Pagnamenta AT, Camps C, Dreau HM, White A, James K, Fischer R, Gileadi O, Taylor JC, Fulga T, Lagerholm BC, Anderson G, Sezgin E, Holländer GA. Rota IA, et al. Among authors: dhalla f. Sci Adv. 2021 Dec 3;7(49):eabj9247. doi: 10.1126/sciadv.abj9247. Epub 2021 Dec 3. Sci Adv. 2021. PMID: 34860543 Free PMC article.
Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations.
Giardino G, Sharapova SO, Ciznar P, Dhalla F, Maragliano L, Radha Rama Devi A, Islamoglu C, Ikinciogullari A, Haskologlu S, Dogu F, Hanna-Wakim R, Dbaibo G, Chou J, Cirillo E, Borzacchiello C, Kreins AY, Worth A, Rota IA, Marques JG, Sayitoglu M, Firtina S, Mahdi M, Geha R, Neven B, Sousa AE, Benfenati F, Hollander GA, Davies EG, Pignata C. Giardino G, et al. Among authors: dhalla f. J Clin Immunol. 2021 May;41(4):756-768. doi: 10.1007/s10875-021-00967-y. Epub 2021 Jan 19. J Clin Immunol. 2021. PMID: 33464451 Free PMC article.
27 results