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

Year Number of Results
2004 1
2005 1
2006 2
2007 3
2008 4
2009 2
2010 2
2012 1
2013 2
2017 3
2018 2
2019 2
2020 2
2021 2
2022 2
2023 1
2024 1

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26 results

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Page 1
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM, Adam S, du Souich C, Lehman A, Nelson TN, van Karnebeek C, Alderman E, Armstrong L, Aubertin G, Blood K, Boelman C, Boerkoel C, Bretherick K, Brown L, Chijiwa C, Clarke L, Couse M, Creighton S, Watts-Dickens A, Gibson WT, Gill H, Tarailo-Graovac M, Hamilton S, Heran H, Horvath G, Huang L, Hulait GK, Koehn D, Lee HK, Lewis S, Lopez E, Louie K, Niederhoffer K, Matthews A, Meagher K, Peng JJ, Patel MS, Race S, Richmond P, Rupps R, Salvarinova R, Seath K, Selby K, Steinraths M, Stockler S, Tang K, Tyson C, van Allen M, Wasserman W, Mwenifumbo J, Friedman JM. Elliott AM, et al. Among authors: mwenifumbo j. HGG Adv. 2022 Apr 18;3(3):100108. doi: 10.1016/j.xhgg.2022.100108. eCollection 2022 Jul 14. HGG Adv. 2022. PMID: 35599849 Free PMC article.
SETD1B-associated neurodevelopmental disorder.
Roston A, Evans D, Gill H, McKinnon M, Isidor B, Cogné B, Mwenifumbo J, van Karnebeek C, An J, Jones SJM, Farrer M, Demos M, Connolly M, Gibson WT; CAUSES Study; EPGEN Study. Roston A, et al. Among authors: mwenifumbo j. J Med Genet. 2021 Mar;58(3):196-204. doi: 10.1136/jmedgenet-2019-106756. Epub 2020 Jun 16. J Med Genet. 2021. PMID: 32546566
Cancer genome-sequencing study design.
Mwenifumbo JC, Marra MA. Mwenifumbo JC, et al. Nat Rev Genet. 2013 May;14(5):321-32. doi: 10.1038/nrg3445. Nat Rev Genet. 2013. PMID: 23594910 Review.
Molecular genetics of nicotine metabolism.
Mwenifumbo JC, Tyndale RF. Mwenifumbo JC, et al. Handb Exp Pharmacol. 2009;(192):235-59. doi: 10.1007/978-3-540-69248-5_9. Handb Exp Pharmacol. 2009. PMID: 19184652 Review.
Renpenning syndrome in a female.
Cho RY, Peñaherrera MS, Du Souich C, Huang L, Mwenifumbo J, Nelson TN, Elliott AM, Adam S; CAUSES Study; Eydoux P, Yang GX, Chijiwa C, Van Allen MI, Friedman JM, Robinson WP, Lehman A. Cho RY, et al. Among authors: mwenifumbo j. Am J Med Genet A. 2020 Mar;182(3):498-503. doi: 10.1002/ajmg.a.61451. Epub 2019 Dec 16. Am J Med Genet A. 2020. PMID: 31840929
Atypical cerebral palsy: genomics analysis enables precision medicine.
Matthews AM, Blydt-Hansen I, Al-Jabri B, Andersen J, Tarailo-Graovac M, Price M, Selby K, Demos M, Connolly M, Drögemoller B, Shyr C, Mwenifumbo J, Elliott AM, Lee J, Ghani A, Stöckler S, Salvarinova R, Vallance H, Sinclair G, Ross CJ, Wasserman WW, McKinnon ML, Horvath GA, Goez H, van Karnebeek CD; TIDE BC, United for Metabolic Diseases and the CAUSES Study. Matthews AM, et al. Among authors: mwenifumbo j. Genet Med. 2019 Jul;21(7):1621-1628. doi: 10.1038/s41436-018-0376-y. Epub 2018 Dec 13. Genet Med. 2019. PMID: 30542205 Free article.
Alternative expression analysis by RNA sequencing.
Griffith M, Griffith OL, Mwenifumbo J, Goya R, Morrissy AS, Morin RD, Corbett R, Tang MJ, Hou YC, Pugh TJ, Robertson G, Chittaranjan S, Ally A, Asano JK, Chan SY, Li HI, McDonald H, Teague K, Zhao Y, Zeng T, Delaney A, Hirst M, Morin GB, Jones SJ, Tai IT, Marra MA. Griffith M, et al. Among authors: mwenifumbo j. Nat Methods. 2010 Oct;7(10):843-7. doi: 10.1038/nmeth.1503. Epub 2010 Sep 12. Nat Methods. 2010. PMID: 20835245
26 results