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Items: 19

1.

Navigating the nuances of clinical sequence variant interpretation in Mendelian disease.

Strande NT, Brnich SE, Roman TS, Berg JS.

Genet Med. 2018 Jul 10. doi: 10.1038/s41436-018-0100-y. [Epub ahead of print] Review.

PMID:
29988079
2.

"Possibly positive or certainly uncertain?": participants' responses to uncertain diagnostic results from exome sequencing.

Skinner D, Roche MI, Weck KE, Raspberry KA, Foreman AKM, Strande NT, Berg JS, Evans JP, Henderson GE.

Genet Med. 2018 Mar;20(3):313-319. doi: 10.1038/gim.2017.135. Epub 2017 Oct 2.

3.

Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.

Haskell GT, Adams MC, Fan Z, Amin K, Guzman Badillo RJ, Zhou L, Bizon C, Chahin N, Greenwood RS, Milko LV, Shiloh-Malawsky Y, Crooks KR, Strande N, Tennison M, Tilley CR, Brandt A, Wilhelmsen KC, Weck K, Evans JP, Berg JS.

Neurol Genet. 2018 Feb 1;4(1):e212. doi: 10.1212/NXG.0000000000000212. eCollection 2018 Feb.

4.

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.

Strande NT, Riggs ER, Buchanan AH, Ceyhan-Birsoy O, DiStefano M, Dwight SS, Goldstein J, Ghosh R, Seifert BA, Sneddon TP, Wright MW, Milko LV, Cherry JM, Giovanni MA, Murray MF, O'Daniel JM, Ramos EM, Santani AB, Scott AF, Plon SE, Rehm HL, Martin CL, Berg JS.

Am J Hum Genet. 2017 Jun 1;100(6):895-906. doi: 10.1016/j.ajhg.2017.04.015. Epub 2017 May 25.

5.

Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges.

Vora NL, Powell B, Brandt A, Strande N, Hardisty E, Gilmore K, Foreman AKM, Wilhelmsen K, Bizon C, Reilly J, Owen P, Powell CM, Skinner D, Rini C, Lyerly AD, Boggess KA, Weck K, Berg JS, Evans JP.

Genet Med. 2017 Nov;19(11):1207-1216. doi: 10.1038/gim.2017.33. Epub 2017 May 18.

6.

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL.

Am J Hum Genet. 2016 Jul 7;99(1):247. doi: 10.1016/j.ajhg.2016.06.001. No abstract available.

7.

Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing.

Strande NT, Berg JS.

Annu Rev Genomics Hum Genet. 2016 Aug 31;17:303-32. doi: 10.1146/annurev-genom-083115-022348. Epub 2016 May 26. Review.

PMID:
27362341
8.

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL.

Am J Hum Genet. 2016 Jun 2;98(6):1067-1076. doi: 10.1016/j.ajhg.2016.03.024. Epub 2016 May 12. Erratum in: Am J Hum Genet. 2016 Jul 7;99(1):247.

9.

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.

Hunter JE, Irving SA, Biesecker LG, Buchanan A, Jensen B, Lee K, Martin CL, Milko L, Muessig K, Niehaus AD, O'Daniel J, Piper MA, Ramos EM, Schully SD, Scott AF, Slavotinek A, Sobreira N, Strande N, Weaver M, Webber EM, Williams MS, Berg JS, Evans JP, Goddard KA.

Genet Med. 2016 Dec;18(12):1258-1268. doi: 10.1038/gim.2016.40. Epub 2016 Apr 28.

10.

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing.

Berg JS, Foreman AK, O'Daniel JM, Booker JK, Boshe L, Carey T, Crooks KR, Jensen BC, Juengst ET, Lee K, Nelson DK, Powell BC, Powell CM, Roche MI, Skrzynia C, Strande NT, Weck KE, Wilhelmsen KC, Evans JP.

Genet Med. 2016 May;18(5):467-75. doi: 10.1038/gim.2015.104. Epub 2015 Aug 13.

11.

Organization and dynamics of the nonhomologous end-joining machinery during DNA double-strand break repair.

Reid DA, Keegan S, Leo-Macias A, Watanabe G, Strande NT, Chang HH, Oksuz BA, Fenyo D, Lieber MR, Ramsden DA, Rothenberg E.

Proc Natl Acad Sci U S A. 2015 May 19;112(20):E2575-84. doi: 10.1073/pnas.1420115112. Epub 2015 May 4.

12.

The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.

Couser NL, Masood MM, Strande NT, Foreman AK, Crooks K, Weck KE, Lu M, Wilhelmsen KC, Roche M, Evans JP, Berg JS, Powell CM.

Am J Med Genet A. 2015 Sep;167A(9):2176-81. doi: 10.1002/ajmg.a.37129. Epub 2015 Apr 29.

PMID:
25920937
13.

Requirements for 5'dRP/AP lyase activity in Ku.

Strande NT, Carvajal-Garcia J, Hallett RA, Waters CA, Roberts SA, Strom C, Kuhlman B, Ramsden DA.

Nucleic Acids Res. 2014;42(17):11136-43. doi: 10.1093/nar/gku796. Epub 2014 Sep 8.

14.

The fidelity of the ligation step determines how ends are resolved during nonhomologous end joining.

Waters CA, Strande NT, Pryor JM, Strom CN, Mieczkowski P, Burkhalter MD, Oh S, Qaqish BF, Moore DT, Hendrickson EA, Ramsden DA.

Nat Commun. 2014 Jul 3;5:4286. doi: 10.1038/ncomms5286.

15.

Nonhomologous end joining: a good solution for bad ends.

Waters CA, Strande NT, Wyatt DW, Pryor JM, Ramsden DA.

DNA Repair (Amst). 2014 May;17:39-51. doi: 10.1016/j.dnarep.2014.02.008. Epub 2014 Mar 14. Review.

16.

Resolution of complex ends by Nonhomologous end joining - better to be lucky than good?

Strande NT, Waters CA, Ramsden DA.

Genome Integr. 2012 Dec 31;3(1):10. doi: 10.1186/2041-9414-3-10.

17.

Specificity of the dRP/AP lyase of Ku promotes nonhomologous end joining (NHEJ) fidelity at damaged ends.

Strande N, Roberts SA, Oh S, Hendrickson EA, Ramsden DA.

J Biol Chem. 2012 Apr 20;287(17):13686-93. doi: 10.1074/jbc.M111.329730. Epub 2012 Feb 23.

18.

Ku is a 5'-dRP/AP lyase that excises nucleotide damage near broken ends.

Roberts SA, Strande N, Burkhalter MD, Strom C, Havener JM, Hasty P, Ramsden DA.

Nature. 2010 Apr 22;464(7292):1214-7. doi: 10.1038/nature08926. Epub 2010 Apr 11.

19.

UV sensitive mutations in histone H3 in Saccharomyces cerevisiae that alter specific K79 methylation states genetically act through distinct DNA repair pathways.

Evans ML, Bostelman LJ, Albrecht AM, Keller AM, Strande NT, Thompson JS.

Curr Genet. 2008 May;53(5):259-74. doi: 10.1007/s00294-008-0182-1. Epub 2008 Mar 8.

PMID:
18327589

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