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

Year Number of Results
1931 1
2009 2
2010 1
2011 1
2012 2
2013 1
2014 3
2015 4
2016 13
2017 21
2018 15
2019 10
2020 7
2021 8
2022 5
2023 2
2024 0

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Similar articles for PMID: 30964585

86 results

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Page 1
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.
Baynam G, Bowman F, Lister K, Walker CE, Pachter N, Goldblatt J, Boycott KM, Gahl WA, Kosaki K, Adachi T, Ishii K, Mahede T, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Groza T, Zankl A, Robinson PN, Haendel M, Brudno M, Mattick JS, Dinger ME, Roscioli T, Cowley MJ, Olry A, Hanauer M, Alkuraya FS, Taruscio D, Posada de la Paz M, Lochmüller H, Bushby K, Thompson R, Hedley V, Lasko P, Mina K, Beilby J, Tifft C, Davis M, Laing NG, Julkowska D, Le Cam Y, Terry SF, Kaufmann P, Eerola I, Norstedt I, Rath A, Suematsu M, Groft SC, Austin CP, Draghia-Akli R, Weeramanthri TS, Molster C, Dawkins HJS. Baynam G, et al. Adv Exp Med Biol. 2017;1031:55-94. doi: 10.1007/978-3-319-67144-4_4. Adv Exp Med Biol. 2017. PMID: 29214566 Review.
Clinical utility of genomic sequencing.
Neu MB, Bowling KM, Cooper GM. Neu MB, et al. Curr Opin Pediatr. 2019 Dec;31(6):732-738. doi: 10.1097/MOP.0000000000000815. Curr Opin Pediatr. 2019. PMID: 31693580 Free PMC article. Review.
New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases.
Hartley T, Lemire G, Kernohan KD, Howley HE, Adams DR, Boycott KM. Hartley T, et al. Annu Rev Genomics Hum Genet. 2020 Aug 31;21:351-372. doi: 10.1146/annurev-genom-083118-015345. Epub 2020 Apr 13. Annu Rev Genomics Hum Genet. 2020. PMID: 32283948 Review.
The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service.
Baynam G, Pachter N, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Walker CE, Molster C, Blackwell JM, Jamieson S, Tang D, Lassmann T, Mina K, Beilby J, Davis M, Laing N, Murphy L, Weeramanthri T, Dawkins H, Goldblatt J. Baynam G, et al. Orphanet J Rare Dis. 2016 Jun 11;11(1):77. doi: 10.1186/s13023-016-0462-7. Orphanet J Rare Dis. 2016. PMID: 27287197 Free PMC article.
Genetic Testing for Rare Cancer: The Wider Issues.
Jacobs C, Pichert G. Jacobs C, et al. Recent Results Cancer Res. 2016;205:213-26. doi: 10.1007/978-3-319-29998-3_12. Recent Results Cancer Res. 2016. PMID: 27075356
86 results