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

Year Number of Results
1933 1
1957 1
1991 2
1993 1
1997 1
2003 1
2004 1
2005 1
2007 1
2008 2
2009 2
2010 3
2011 4
2012 4
2013 1
2016 1
2017 6
2018 6
2019 6
2020 4
2021 4
2022 6
2023 2
2024 3

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53 results

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Page 1
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.
Schmidt RJ, Steeves M, Bayrak-Toydemir P, Benson KA, Coe BP, Conlin LK, Ganapathi M, Garcia J, Gollob MH, Jobanputra V, Luo M, Ma D, Maston G, McGoldrick K, Palculict TB, Pesaran T, Pollin TI, Qian E, Rehm HL, Riggs ER, Schilit SLP, Sergouniotis PI, Tvrdik T, Watkins N, Zec L, Zhang W, Lebo MS; ClinGen Low Penetrance/Risk Allele Working Group. Schmidt RJ, et al. Among authors: steeves m. Genet Med. 2024 Mar;26(3):101036. doi: 10.1016/j.gim.2023.101036. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054408
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study; Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM. Snijders Blok L, et al. Among authors: steeves ma. Nat Commun. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018-06014-6. Nat Commun. 2018. PMID: 30397230 Free PMC article.
Pitt-Hopkins Syndrome.
Sweetser DA, Elsharkawi I, Yonker L, Steeves M, Parkin K, Thibert R. Sweetser DA, et al. Among authors: steeves m. 2012 Aug 30 [updated 2018 Apr 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2012 Aug 30 [updated 2018 Apr 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 22934316 Free Books & Documents. Review.
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.
Barbosa S, Greville-Heygate S, Bonnet M, Godwin A, Fagotto-Kaufmann C, Kajava AV, Laouteouet D, Mawby R, Wai HA, Dingemans AJM, Hehir-Kwa J, Willems M, Capri Y, Mehta SG, Cox H, Goudie D, Vansenne F, Turnpenny P, Vincent M, Cogné B, Lesca G, Hertecant J, Rodriguez D, Keren B, Burglen L, Gérard M, Putoux A; C4RCD Research Group; Cantagrel V, Siquier-Pernet K, Rio M, Banka S, Sarkar A, Steeves M, Parker M, Clement E, Moutton S, Tran Mau-Them F, Piton A, de Vries BBA, Guille M, Debant A, Schmidt S, Baralle D. Barbosa S, et al. Among authors: steeves m. Am J Hum Genet. 2020 Mar 5;106(3):338-355. doi: 10.1016/j.ajhg.2020.01.018. Epub 2020 Feb 27. Am J Hum Genet. 2020. PMID: 32109419 Free PMC article.
Development of a clinical polygenic risk score assay and reporting workflow.
Hao L, Kraft P, Berriz GF, Hynes ED, Koch C, Korategere V Kumar P, Parpattedar SS, Steeves M, Yu W, Antwi AA, Brunette CA, Danowski M, Gala MK, Green RC, Jones NE, Lewis ACF, Lubitz SA, Natarajan P, Vassy JL, Lebo MS. Hao L, et al. Among authors: steeves m. Nat Med. 2022 May;28(5):1006-1013. doi: 10.1038/s41591-022-01767-6. Epub 2022 Apr 18. Nat Med. 2022. PMID: 35437332 Free PMC article.
Epidemiology and Effects of Substance Use in Pregnancy.
Cook JL, Green CR, de la Ronde S, Dell CA, Graves L, Ordean A, Ruiter J, Steeves M, Wong S. Cook JL, et al. Among authors: steeves m. J Obstet Gynaecol Can. 2017 Oct;39(10):906-915. doi: 10.1016/j.jogc.2017.07.005. J Obstet Gynaecol Can. 2017. PMID: 28935056 Review.
Screening and Management of Substance Use in Pregnancy: A Review.
Cook JL, Green CR, de la Ronde S, Dell CA, Graves L, Morgan L, Ordean A, Ruiter J, Steeves M, Wong S. Cook JL, et al. Among authors: steeves m. J Obstet Gynaecol Can. 2017 Oct;39(10):897-905. doi: 10.1016/j.jogc.2017.07.017. J Obstet Gynaecol Can. 2017. PMID: 28935055 Review.
Genomic data in the All of Us Research Program.
All of Us Research Program Genomics Investigators. All of Us Research Program Genomics Investigators. Nature. 2024 Mar;627(8003):340-346. doi: 10.1038/s41586-023-06957-x. Epub 2024 Feb 19. Nature. 2024. PMID: 38374255 Free PMC article.
Current nonclinical approaches for immune assessments of immuno-oncology biotherapeutics.
Grimaldi C, Ibraghimov A, Kiessling A, Rattel B, Ji C, Fuller CL, Brennan FR, Regenass-Lechner F, Shenton J, Price KD, Piché MS, Steeves MA, Prell R, Dudal S, Kronenberg S, Freebern W, Blanset D. Grimaldi C, et al. Among authors: steeves ma. Drug Discov Today. 2023 Feb;28(2):103440. doi: 10.1016/j.drudis.2022.103440. Epub 2022 Nov 12. Drug Discov Today. 2023. PMID: 36375739 Free article. Review.
Affinity maturation and autoimmunity to DNA.
Marion TN, Krishnan MR, Steeves MA, Desai DD. Marion TN, et al. Among authors: steeves ma. Curr Dir Autoimmun. 2003;6:123-53. doi: 10.1159/000066859. Curr Dir Autoimmun. 2003. PMID: 12408050 Review. No abstract available.
53 results