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

Year Number of Results
1946 1
1947 2
1949 1
1952 1
1953 1
1954 1
1955 2
1958 2
1959 3
1982 1
1994 2
1995 2
1996 4
1997 2
1998 3
1999 2
2000 3
2001 3
2004 1
2007 4
2008 6
2009 4
2011 3
2012 4
2013 1
2014 3
2015 1
2016 7
2017 10
2018 3
2019 7
2020 7
2021 5
2022 12
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105 results
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Page 1
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.
French CE, Delon I, Dolling H, Sanchis-Juan A, Shamardina O, Mégy K, Abbs S, Austin T, Bowdin S, Branco RG, Firth H; NIHR BioResource—Rare Disease; Next Generation Children Project, Rowitch DH, Raymond FL. French CE, et al. Intensive Care Med. 2019 May;45(5):627-636. doi: 10.1007/s00134-019-05552-x. Epub 2019 Mar 7. Intensive Care Med. 2019. PMID: 30847515 Free PMC article.
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.
Morton SU, Christodoulou J, Costain G, Muntoni F, Wakeling E, Wojcik MH, French CE, Szuto A, Dowling JJ, Cohn RD, Raymond FL, Darras BT, Williams DA, Lunke S, Stark Z, Rowitch DH, Agrawal PB. Morton SU, et al. Among authors: french ce. JAMA Neurol. 2022 Apr 1;79(4):405-413. doi: 10.1001/jamaneurol.2022.0067. JAMA Neurol. 2022. PMID: 35254387 Review.
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Kim HJ, Mohassel P, Donkervoort S, Guo L, O'Donovan K, Coughlin M, Lornage X, Foulds N, Hammans SR, Foley AR, Fare CM, Ford AF, Ogasawara M, Sato A, Iida A, Munot P, Ambegaonkar G, Phadke R, O'Donovan DG, Buchert R, Grimmel M, Töpf A, Zaharieva IT, Brady L, Hu Y, Lloyd TE, Klein A, Steinlin M, Kuster A, Mercier S, Marcorelles P, Péréon Y, Fleurence E, Manzur A, Ennis S, Upstill-Goddard R, Bello L, Bertolin C, Pegoraro E, Salviati L, French CE, Shatillo A, Raymond FL, Haack TB, Quijano-Roy S, Böhm J, Nelson I, Stojkovic T, Evangelista T, Straub V, Romero NB, Laporte J, Muntoni F, Nishino I, Tarnopolsky MA, Shorter J, Bönnemann CG, Taylor JP. Kim HJ, et al. Among authors: french ce. Nat Commun. 2022 Apr 28;13(1):2306. doi: 10.1038/s41467-022-30015-1. Nat Commun. 2022. PMID: 35484142 Free PMC article.
PaperClip DNA Assembly: Reduce, Reuse, Recycle.
Trubitsyna M, Honsbein A, Jayachandran U, Elfick A, French CE. Trubitsyna M, et al. Among authors: french ce. Methods Mol Biol. 2020;2205:161-177. doi: 10.1007/978-1-0716-0908-8_10. Methods Mol Biol. 2020. PMID: 32809199
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.
Zheng WQ, Pedersen SV, Thompson K, Bellacchio E, French CE, Munro B, Pearson TS, Vogt J, Diodato D, Diemer T, Ernst A, Horvath R, Chitre M, Ek J, Wibrand F, Grange DK, Raymond L, Zhou XL, Taylor RW, Ostergaard E. Zheng WQ, et al. Among authors: french ce. Hum Mol Genet. 2022 Feb 21;31(4):523-534. doi: 10.1093/hmg/ddab257. Hum Mol Genet. 2022. PMID: 34508595
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.
Rodger C, Flex E, Allison RJ, Sanchis-Juan A, Hasenahuer MA, Cecchetti S, French CE, Edgar JR, Carpentieri G, Ciolfi A, Pantaleoni F, Bruselles A; Genomics England Research Consortium, Onesimo R, Zampino G, Marcon F, Siniscalchi E, Lees M, Krishnakumar D, McCann E, Yosifova D, Jarvis J, Kruer MC, Marks W, Campbell J, Allen LE, Gustincich S, Raymond FL, Tartaglia M, Reid E. Rodger C, et al. Among authors: french ce. Am J Hum Genet. 2020 Dec 3;107(6):1129-1148. doi: 10.1016/j.ajhg.2020.10.012. Epub 2020 Nov 12. Am J Hum Genet. 2020. PMID: 33186545 Free PMC article.
105 results