Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Results by year

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

Year Number of Results
1995 1
1996 2
2001 1
2003 4
2005 5
2006 3
2008 1
2009 1
2010 1
2011 2
2012 1
2013 10
2014 2
2015 1
2016 1
2017 4
2018 3
2019 3
2020 2
2021 2
Text availability
Article attribute
Article type
Publication date

Search Results

47 results
Results by year
Filters applied: . Clear all
Page 1
Genome sequencing in the clinic: the past, present, and future of genomic medicine.
Prokop JW, May T, Strong K, Bilinovich SM, Bupp C, Rajasekaran S, Worthey EA, Lazar J. Prokop JW, et al. Among authors: worthey ea. Physiol Genomics. 2018 Aug 1;50(8):563-579. doi: 10.1152/physiolgenomics.00046.2018. Epub 2018 May 4. Physiol Genomics. 2018. PMID: 29727589 Free PMC article. Review.
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, Eng CM, Esteves C, Gahl WA, Hamid R, Jacob HJ, Kikani B, Koeller DM, Kohane IS, Lee BH, Loscalzo J, Luo X, McCray AT, Metz TO, Mulvihill JJ, Nelson SF, Palmer CGS, Phillips JA 3rd, Pick L, Postlethwait JH, Reuter C, Shashi V, Sweetser DA, Tifft CJ, Walley NM, Wangler MF, Westerfield M, Wheeler MT, Wise AL, Worthey EA, Yamamoto S, Ashley EA; Undiagnosed Diseases Network. Splinter K, et al. Among authors: worthey ea. N Engl J Med. 2018 Nov 29;379(22):2131-2139. doi: 10.1056/NEJMoa1714458. Epub 2018 Oct 10. N Engl J Med. 2018. PMID: 30304647 Free PMC article.
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.
Marshall CR, Chowdhury S, Taft RJ, Lebo MS, Buchan JG, Harrison SM, Rowsey R, Klee EW, Liu P, Worthey EA, Jobanputra V, Dimmock D, Kearney HM, Bick D, Kulkarni S, Taylor SL, Belmont JW, Stavropoulos DJ, Lennon NJ; Medical Genome Initiative. Marshall CR, et al. Among authors: worthey ea. NPJ Genom Med. 2020 Oct 23;5:47. doi: 10.1038/s41525-020-00154-9. eCollection 2020. NPJ Genom Med. 2020. PMID: 33110627 Free PMC article. Review.
VarSight: prioritizing clinically reported variants with binary classification algorithms.
Holt JM, Wilk B, Birch CL, Brown DM, Gajapathy M, Moss AC, Sosonkina N, Wilk MA, Anderson JA, Harris JM, Kelly JM, Shaterferdosian F, Uno-Antonison AE, Weborg A; Undiagnosed Diseases Network, Worthey EA. Holt JM, et al. Among authors: worthey ea. BMC Bioinformatics. 2019 Oct 15;20(1):496. doi: 10.1186/s12859-019-3026-8. BMC Bioinformatics. 2019. PMID: 31615419 Free PMC article.
A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.
Zastrow DB, Kohler JN, Bonner D, Reuter CM, Fernandez L, Grove ME, Fisk DG; Undiagnosed Diseases Network, Yang Y, Eng CM, Ward PA, Bick D, Worthey EA, Fisher PG, Ashley EA, Bernstein JA, Wheeler MT. Zastrow DB, et al. Among authors: worthey ea. J Genet Couns. 2019 Apr;28(2):213-228. doi: 10.1002/jgc4.1119. J Genet Couns. 2019. PMID: 30964584 Free PMC article.
A timely arrival for genomic medicine.
Mayer AN, Dimmock DP, Arca MJ, Bick DP, Verbsky JW, Worthey EA, Jacob HJ, Margolis DA. Mayer AN, et al. Among authors: worthey ea. Genet Med. 2011 Mar;13(3):195-6. doi: 10.1097/GIM.0b013e3182095089. Genet Med. 2011. PMID: 21169843 No abstract available.
Good laboratory practice for clinical next-generation sequencing informatics pipelines.
Gargis AS, Kalman L, Bick DP, da Silva C, Dimmock DP, Funke BH, Gowrisankar S, Hegde MR, Kulkarni S, Mason CE, Nagarajan R, Voelkerding KV, Worthey EA, Aziz N, Barnes J, Bennett SF, Bisht H, Church DM, Dimitrova Z, Gargis SR, Hafez N, Hambuch T, Hyland FC, Luna RA, MacCannell D, Mann T, McCluskey MR, McDaniel TK, Ganova-Raeva LM, Rehm HL, Reid J, Campo DS, Resnick RB, Ridge PG, Salit ML, Skums P, Wong LJ, Zehnbauer BA, Zook JM, Lubin IM. Gargis AS, et al. Among authors: worthey ea. Nat Biotechnol. 2015 Jul;33(7):689-93. doi: 10.1038/nbt.3237. Nat Biotechnol. 2015. PMID: 26154004 Free PMC article. No abstract available.
Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles.
Cochran JN, McKinley EC, Cochran M, Amaral MD, Moyers BA, Lasseigne BN, Gray DE, Lawlor JMJ, Prokop JW, Geier EG, Holt JM, Thompson ML, Newberry JS, Yokoyama JS, Worthey EA, Geldmacher DS, Love MN, Cooper GM, Myers RM, Roberson ED. Cochran JN, et al. Among authors: worthey ea. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a003491. doi: 10.1101/mcs.a003491. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31836585 Free PMC article.
47 results
You have reached the last page of results. A maximum of 10,000 results are available.
Jump to page