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De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
Hiatt SM, Neu MB, Ramaker RC, Hardigan AA, Prokop JW, Hancarova M, Prchalova D, Havlovicova M, Prchal J, Stranecky V, Yim DKC, Powis Z, Keren B, Nava C, Mignot C, Rio M, Revah-Politi A, Hemati P, Stong N, Iglesias AD, Suchy SF, Willaert R, Wentzensen IM, Wheeler PG, Brick L, Kozenko M, Hurst ACE, Wheless JW, Lacassie Y, Myers RM, Barsh GS, Sedlacek Z, Cooper GM. Hiatt SM, et al. Among authors: barsh gs. PLoS Genet. 2018 Nov 30;14(11):e1007671. doi: 10.1371/journal.pgen.1007671. eCollection 2018 Nov. PLoS Genet. 2018. PMID: 30500825 Free PMC article.
David R. Cox 1946-2013.
Barsh GS, Myers RM. Barsh GS, et al. Nat Genet. 2013 Jul;45(7):716. doi: 10.1038/ng.2679. Nat Genet. 2013. PMID: 23800862 No abstract available.
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM, Thompson ML, Amaral MD, Finnila CR, Hiatt SM, Engel KL, Cochran JN, Brothers KB, East KM, Gray DE, Kelley WV, Lamb NE, Lose EJ, Rich CA, Simmons S, Whittle JS, Weaver BT, Nesmith AS, Myers RM, Barsh GS, Bebin EM, Cooper GM. Bowling KM, et al. Among authors: barsh gs. Genome Med. 2017 May 30;9(1):43. doi: 10.1186/s13073-017-0433-1. Genome Med. 2017. PMID: 28554332 Free PMC article.
Systematic reanalysis of genomic data improves quality of variant interpretation.
Hiatt SM, Amaral MD, Bowling KM, Finnila CR, Thompson ML, Gray DE, Lawlor JMJ, Cochran JN, Bebin EM, Brothers KB, East KM, Kelley WV, Lamb NE, Levy SE, Lose EJ, Neu MB, Rich CA, Simmons S, Myers RM, Barsh GS, Cooper GM. Hiatt SM, et al. Among authors: barsh gs. Clin Genet. 2018 Jul;94(1):174-178. doi: 10.1111/cge.13259. Epub 2018 May 10. Clin Genet. 2018. PMID: 29652076 Free PMC article.
Genomic sequencing identifies secondary findings in a cohort of parent study participants.
Thompson ML, Finnila CR, Bowling KM, Brothers KB, Neu MB, Amaral MD, Hiatt SM, East KM, Gray DE, Lawlor JMJ, Kelley WV, Lose EJ, Rich CA, Simmons S, Levy SE, Myers RM, Barsh GS, Bebin EM, Cooper GM. Thompson ML, et al. Among authors: barsh gs. Genet Med. 2018 Dec;20(12):1635-1643. doi: 10.1038/gim.2018.53. Epub 2018 Apr 12. Genet Med. 2018. PMID: 29790872 Free PMC article.
PEA15 loss of function and defective cerebral development in the domestic cat.
Graff EC, Cochran JN, Kaelin CB, Day K, Gray-Edwards HL, Watanabe R, Koehler JW, Falgoust RA, Prokop JW, Myers RM, Cox NR, Barsh GS, Martin DR; 99 Lives Consortium. Graff EC, et al. Among authors: barsh gs. PLoS Genet. 2020 Dec 8;16(12):e1008671. doi: 10.1371/journal.pgen.1008671. eCollection 2020 Dec. PLoS Genet. 2020. PMID: 33290415 Free PMC article.
Evaluating the strength of genetic results: Risks and responsibilities.
Barsh GS, Cooper GM, Copenhaver GP, Sirugo G, Tang H, Williams SM. Barsh GS, et al. PLoS Genet. 2019 Oct 11;15(10):e1008437. doi: 10.1371/journal.pgen.1008437. eCollection 2019 Oct. PLoS Genet. 2019. PMID: 31603891 Free PMC article. No abstract available.
PLOS Genetics Data Sharing Policy: In Pursuit of Functional Utility.
Barsh GS, Cooper GM, Copenhaver GP, Gibson G, McCarthy MI, Tang H, Williams SM. Barsh GS, et al. PLoS Genet. 2015 Dec 14;11(12):e1005716. doi: 10.1371/journal.pgen.1005716. eCollection 2015 Dec. PLoS Genet. 2015. PMID: 26655768 Free PMC article. No abstract available.
281 results