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Year Number of Results
2018 3
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2020 8
2021 10
2022 2
2023 5
2024 0

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29 results

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Page 1
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. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
Stabilization of chromatin topology safeguards genome integrity.
Ochs F, Karemore G, Miron E, Brown J, Sedlackova H, Rask MB, Lampe M, Buckle V, Schermelleh L, Lukas J, Lukas C. Ochs F, et al. Nature. 2019 Oct;574(7779):571-574. doi: 10.1038/s41586-019-1659-4. Epub 2019 Oct 23. Nature. 2019. PMID: 31645724
Reactivation of a developmentally silenced embryonic globin gene.
King AJ, Songdej D, Downes DJ, Beagrie RA, Liu S, Buckley M, Hua P, Suciu MC, Marieke Oudelaar A, Hanssen LLP, Jeziorska D, Roberts N, Carpenter SJ, Francis H, Telenius J, Olijnik AA, Sharpe JA, Sloane-Stanley J, Eglinton J, Kassouf MT, Orkin SH, Pennacchio LA, Davies JOJ, Hughes JR, Higgs DR, Babbs C. King AJ, et al. Nat Commun. 2021 Jul 21;12(1):4439. doi: 10.1038/s41467-021-24402-3. Nat Commun. 2021. PMID: 34290235 Free PMC article.
Genetic and functional insights into CDA-I prevalence and pathogenesis.
Olijnik AA, Roy NBA, Scott C, Marsh JA, Brown J, Lauschke K, Ask K, Roberts N, Downes DJ, Brolih S, Johnson E, Xella B, Proven M, Hipkiss R, Ryan K, Frisk P, Mäkk J, Stattin EM, Sadasivam N, McIlwaine L, Hill QA, Renella R, Hughes JR, Gibbons RJ, Groth A, McHugh PJ, Higgs DR, Buckle VJ, Babbs C. Olijnik AA, et al. J Med Genet. 2021 Mar;58(3):185-195. doi: 10.1136/jmedgenet-2020-106880. Epub 2020 Jun 9. J Med Genet. 2021. PMID: 32518175 Free PMC article.
ATR-16 syndrome: mechanisms linking monosomy to phenotype.
Babbs C, Brown J, Horsley SW, Slater J, Maifoshie E, Kumar S, Ooijevaar P, Kriek M, Dixon-McIver A, Harteveld CL, Traeger-Synodinos J, Wilkie AOM, Higgs DR, Buckle VJ. Babbs C, et al. J Med Genet. 2020 Jun;57(6):414-421. doi: 10.1136/jmedgenet-2019-106528. Epub 2020 Jan 31. J Med Genet. 2020. PMID: 32005695 Free PMC article.
Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease.
Potter JE, Petts G, Ghosh A, White FJ, Kinsella JL, Hughes S, Roberts J, Hodgkinson A, Brammeier K, Church H, Merrigan C, Hughes J, Evans P, Campbell H, Bonney D, Newman WG, Bigger BW, Broomfield A, Jones SA, Wynn RF. Potter JE, et al. Orphanet J Rare Dis. 2021 May 21;16(1):235. doi: 10.1186/s13023-021-01849-7. Orphanet J Rare Dis. 2021. PMID: 34020687 Free PMC article.
29 results