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

Year Number of Results
2003 1
2004 2
2006 1
2007 1
2008 1
2009 1
2011 1
2012 1
2013 2
2014 2
2015 2
2016 3
2017 3
2018 6
2019 3
2020 6
2021 3
2022 2
2023 7
2024 1

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47 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. Among authors: babbs c. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
Ancient genomic linkage couples metabolism with erythroid development.
Preston AE, Frost JN, Badat M, Teh M, Armitage AE, Norfo R, Wideman SK, Hanifi M, White N, Roy N, Ghesquiere B, Babbs C, Kassouf M, Davies J, Hughes JR, Beagrie R, Higgs DR, Drakesmith H. Preston AE, et al. Among authors: babbs c. bioRxiv [Preprint]. 2023 Sep 25:2023.09.25.558944. doi: 10.1101/2023.09.25.558944. bioRxiv. 2023. PMID: 37808769 Free PMC article. Preprint.
RNA polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation.
Martell DJ, Merens HE, Caulier A, Fiorini C, Ulirsch JC, Ietswaart R, Choquet K, Graziadei G, Brancaleoni V, Cappellini MD, Scott C, Roberts N, Proven M, Roy NBA, Babbs C, Higgs DR, Sankaran VG, Churchman LS. Martell DJ, et al. Among authors: babbs c. Dev Cell. 2023 Oct 23;58(20):2112-2127.e4. doi: 10.1016/j.devcel.2023.07.018. Epub 2023 Aug 15. Dev Cell. 2023. PMID: 37586368
A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects.
Tillotson R, Yan K, Ruston J, DeYoung T, Córdova A, Turcotte-Cardin V, Yee Y, Taylor C, Visuvanathan S, Babbs C, Ivakine EA, Sled JG, Nieman BJ, Picketts DJ, Justice MJ. Tillotson R, et al. Among authors: babbs c. Hum Mol Genet. 2023 Jul 20;32(15):2485-2501. doi: 10.1093/hmg/ddad075. Hum Mol Genet. 2023. PMID: 37171606 Free PMC article.
RNA Polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation.
Martell DJ, Merens HE, Fiorini C, Caulier A, Ulirsch JC, Ietswaart R, Choquet K, Graziadei G, Brancaleoni V, Cappellini MD, Scott C, Roberts N, Proven M, Roy NB, Babbs C, Higgs DR, Sankaran VG, Churchman LS. Martell DJ, et al. Among authors: babbs c. medRxiv [Preprint]. 2023 Mar 7:2023.03.03.23286760. doi: 10.1101/2023.03.03.23286760. medRxiv. 2023. PMID: 36945604 Free PMC article. Updated. Preprint.
Scalable in vitro production of defined mouse erythroblasts.
Francis HS, Harold CL, Beagrie RA, King AJ, Gosden ME, Blayney JW, Jeziorska DM, Babbs C, Higgs DR, Kassouf MT. Francis HS, et al. Among authors: babbs c. PLoS One. 2022 Jan 7;17(1):e0261950. doi: 10.1371/journal.pone.0261950. eCollection 2022. PLoS One. 2022. PMID: 34995303 Free PMC article.
47 results