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ClinVar: improving access to variant interpretations and supporting evidence.
Landrum MJ, Lee JM, Benson M, Brown GR, Chao C, Chitipiralla S, Gu B, Hart J, Hoffman D, Jang W, Karapetyan K, Katz K, Liu C, Maddipatla Z, Malheiro A, McDaniel K, Ovetsky M, Riley G, Zhou G, Holmes JB, Kattman BL, Maglott DR. Landrum MJ, et al. Among authors: kattman bl. Nucleic Acids Res. 2018 Jan 4;46(D1):D1062-D1067. doi: 10.1093/nar/gkx1153. Nucleic Acids Res. 2018. PMID: 29165669 Free PMC article.
The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency.
Rubinstein WS, Maglott DR, Lee JM, Kattman BL, Malheiro AJ, Ovetsky M, Hem V, Gorelenkov V, Song G, Wallin C, Husain N, Chitipiralla S, Katz KS, Hoffman D, Jang W, Johnson M, Karmanov F, Ukrainchik A, Denisenko M, Fomous C, Hudson K, Ostell JM. Rubinstein WS, et al. Among authors: kattman bl. Nucleic Acids Res. 2013 Jan;41(Database issue):D925-35. doi: 10.1093/nar/gks1173. Epub 2012 Nov 27. Nucleic Acids Res. 2013. PMID: 23193275 Free PMC article.
ClinVar at five years: Delivering on the promise.
Landrum MJ, Kattman BL. Landrum MJ, et al. Among authors: kattman bl. Hum Mutat. 2018 Nov;39(11):1623-1630. doi: 10.1002/humu.23641. Hum Mutat. 2018. PMID: 30311387 Free article.
ClinVar: improvements to accessing data.
Landrum MJ, Chitipiralla S, Brown GR, Chen C, Gu B, Hart J, Hoffman D, Jang W, Kaur K, Liu C, Lyoshin V, Maddipatla Z, Maiti R, Mitchell J, O'Leary N, Riley GR, Shi W, Zhou G, Schneider V, Maglott D, Holmes JB, Kattman BL. Landrum MJ, et al. Among authors: kattman bl. Nucleic Acids Res. 2020 Jan 8;48(D1):D835-D844. doi: 10.1093/nar/gkz972. Nucleic Acids Res. 2020. PMID: 31777943 Free PMC article.
ClinGen's GenomeConnect registry enables patient-centered data sharing.
Savatt JM, Azzariti DR, Faucett WA, Harrison S, Hart J, Kattman B, Landrum MJ, Ledbetter DH, Miller VR, Palen E, Rehm HL, Rhode J, Turner S, Vidal JA, Wain KE, Riggs ER, Martin CL. Savatt JM, et al. Hum Mutat. 2018 Nov;39(11):1668-1676. doi: 10.1002/humu.23633. Hum Mutat. 2018. PMID: 30311371 Free PMC article.
SPDI: data model for variants and applications at NCBI.
Holmes JB, Moyer E, Phan L, Maglott D, Kattman B. Holmes JB, et al. Bioinformatics. 2020 Mar 1;36(6):1902-1907. doi: 10.1093/bioinformatics/btz856. Bioinformatics. 2020. PMID: 31738401 Free PMC article.
Medical Genetics Summaries [Internet].
Pratt VM, Scott SA, Pirmohamed M, Esquivel B, Kattman BL, Malheiro AJ, editors. Pratt VM, editor, et al. Bethesda (MD): National Center for Biotechnology Information (US); 2012–. Bethesda (MD): National Center for Biotechnology Information (US); 2012–. PMID: 28520340 Free Books & Documents. Review.
Warfarin Therapy and VKORC1 and CYP Genotype.
Dean L. Dean L. 2012 Mar 8 [updated 2018 Jun 11]. In: Pratt VM, Scott SA, Pirmohamed M, Esquivel B, Kattman BL, Malheiro AJ, editors. Medical Genetics Summaries [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2012–. 2012 Mar 8 [updated 2018 Jun 11]. In: Pratt VM, Scott SA, Pirmohamed M, Esquivel B, Kattman BL, Malheiro AJ, editors. Medical Genetics Summaries [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2012–. PMID: 28520347 Free Books & Documents. Review.
72 results