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Items: 32

1.

Genome-wide linkage analysis and whole-exome sequencing identifies an ITGA2B mutation in a family with thrombocytopenia.

Khoriaty R, Ozel AB, Ramdas S, Ross C, Desch K, Shavit JA, Everett L, Siemieniak D, Li JZ, Ginsburg D.

Br J Haematol. 2019 May 23. doi: 10.1111/bjh.15961. [Epub ahead of print]

PMID:
31119735
2.

Whole exome sequencing of ENU-induced thrombosis modifier mutations in the mouse.

Tomberg K, Westrick RJ, Kotnik EN, Cleuren AC, Siemieniak DR, Zhu G, Saunders TL, Ginsburg D.

PLoS Genet. 2018 Sep 6;14(9):e1007658. doi: 10.1371/journal.pgen.1007658. eCollection 2018 Sep.

3.

Sensitized mutagenesis screen in Factor V Leiden mice identifies thrombosis suppressor loci.

Westrick RJ, Tomberg K, Siebert AE, Zhu G, Winn ME, Dobies SL, Manning SL, Brake MA, Cleuren AC, Hobbs LM, Mishack LM, Johnston AJ, Kotnik E, Siemieniak DR, Xu J, Li JZ, Saunders TL, Ginsburg D.

Proc Natl Acad Sci U S A. 2017 Sep 5;114(36):9659-9664. doi: 10.1073/pnas.1705762114. Epub 2017 Aug 21.

4.

Genome-wide studies of von Willebrand factor propeptide identify loci contributing to variation in propeptide levels and von Willebrand factor clearance.

Ozel AB, McGee B, Siemieniak D, Jacobi PM, Haberichter SL, Brody LC, Mills JL, Molloy AM, Ginsburg D, Li JZ, Desch KC.

J Thromb Haemost. 2016 Sep;14(9):1888-98. doi: 10.1111/jth.13401. Epub 2016 Aug 19.

5.

Massively parallel enzyme kinetics reveals the substrate recognition landscape of the metalloprotease ADAMTS13.

Kretz CA, Dai M, Soylemez O, Yee A, Desch KC, Siemieniak D, Tomberg K, Kondrashov FA, Meng F, Ginsburg D.

Proc Natl Acad Sci U S A. 2015 Jul 28;112(30):9328-33. doi: 10.1073/pnas.1511328112. Epub 2015 Jul 13.

6.

Genetic variants in PLG, LPA, and SIGLEC 14 as well as smoking contribute to plasma plasminogen levels.

Ma Q, Ozel AB, Ramdas S, McGee B, Khoriaty R, Siemieniak D, Li HD, Guan Y, Brody LC, Mills JL, Molloy AM, Ginsburg D, Li JZ, Desch KC.

Blood. 2014 Nov 13;124(20):3155-64. doi: 10.1182/blood-2014-03-560086. Epub 2014 Sep 10.

7.

Absence of a red blood cell phenotype in mice with hematopoietic deficiency of SEC23B.

Khoriaty R, Vasievich MP, Jones M, Everett L, Chase J, Tao J, Siemieniak D, Zhang B, Maillard I, Ginsburg D.

Mol Cell Biol. 2014 Oct 1;34(19):3721-34. doi: 10.1128/MCB.00287-14. Epub 2014 Jul 28.

8.

Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.

Desch KC, Ozel AB, Siemieniak D, Kalish Y, Shavit JA, Thornburg CD, Sharathkumar AA, McHugh CP, Laurie CC, Crenshaw A, Mirel DB, Kim Y, Cropp CD, Molloy AM, Kirke PN, Bailey-Wilson JE, Wilson AF, Mills JL, Scott JM, Brody LC, Li JZ, Ginsburg D.

Proc Natl Acad Sci U S A. 2013 Jan 8;110(2):588-93. doi: 10.1073/pnas.1219885110. Epub 2012 Dec 24.

9.

Analysis of informed consent document utilization in a minimal-risk genetic study.

Desch K, Li J, Kim S, Laventhal N, Metzger K, Siemieniak D, Ginsburg D.

Ann Intern Med. 2011 Sep 6;155(5):316-22. doi: 10.7326/0003-4819-155-5-201109060-00009.

10.

Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura.

Levy GG, Nichols WC, Lian EC, Foroud T, McClintick JN, McGee BM, Yang AY, Siemieniak DR, Stark KR, Gruppo R, Sarode R, Shurin SB, Chandrasekaran V, Stabler SP, Sabio H, Bouhassira EE, Upshaw JD Jr, Ginsburg D, Tsai HM.

Nature. 2001 Oct 4;413(6855):488-94.

11.

Genotyping of apolipoprotein E by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.

Srinivasan JR, Kachman MT, Killeen AA, Akel N, Siemieniak D, Lubman DM.

Rapid Commun Mass Spectrom. 1998;12(16):1045-50.

12.

Localization of the gene for familial primary pulmonary hypertension to chromosome 2q31-32.

Nichols WC, Koller DL, Slovis B, Foroud T, Terry VH, Arnold ND, Siemieniak DR, Wheeler L, Phillips JA 3rd, Newman JH, Conneally PM, Ginsburg D, Loyd JE.

Nat Genet. 1997 Mar;15(3):277-80.

PMID:
9054941
13.

Linkage of combined factors V and VIII deficiency to chromosome 18q by homozygosity mapping.

Nichols WC, Seligsohn U, Zivelin A, Terry VH, Arnold ND, Siemieniak DR, Kaufman RJ, Ginsburg D.

J Clin Invest. 1997 Feb 15;99(4):596-601.

14.

Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry as a rapid screening method to detect mutations causing Tay-Sachs disease.

Srinivasan JR, Liu YH, Venta PJ, Siemieniak D, Killeen AA, Zhu Y, Lubman DM.

Rapid Commun Mass Spectrom. 1997;11(10):1144-50.

15.

Polymorphism of adhesion molecule CD31 is not a significant risk factor for graft-versus-host disease.

Nichols WC, Antin JH, Lunetta KL, Terry VH, Hertel CE, Wheatley MA, Arnold ND, Siemieniak DR, Boehnke M, Ginsburg D.

Blood. 1996 Dec 15;88(12):4429-34.

16.

Rapid screening of genetic polymorphisms using buccal cell DNA with detection by matrix-assisted laser desorption/ionization mass spectrometry.

Liu YH, Bai J, Zhu Y, Liang X, Siemieniak D, Venta PJ, Lubman DM.

Rapid Commun Mass Spectrom. 1995;9(9):735-43.

PMID:
7655068
17.

The complete nucleotide sequence of cosmid vector pTL5: location and origin of its genetic components.

Slightom JL, Siemieniak DR, Koop BF, Hood L.

Gene. 1994 Sep 15;147(1):77-9.

18.

Matrix-assisted laser desorption/ionization mass spectrometry of restriction enzyme-digested plasmid DNA using an active Nafion substrate.

Bai J, Liu YH, Lubman DM, Siemieniak D.

Rapid Commun Mass Spectrom. 1994 Sep;8(9):687-91.

PMID:
7949333
19.

Nucleotide sequencing double-stranded plasmids with primers selected from a nonamer library.

Slightom JL, Bock JH, Siemieniak DR, Hurst GD, Beattie KL.

Biotechniques. 1994 Sep;17(3):536-7, 540-4.

PMID:
7818908
20.
21.

The coat protein genes of squash mosaic virus: cloning, sequence analysis, and expression in tobacco protoplasts.

Hu JS, Pang SZ, Nagpala PG, Siemieniak DR, Slightom JL, Gonsalves D.

Arch Virol. 1993;130(1-2):17-31.

PMID:
8503782
22.

Isolation of a partial candidate gene for Menkes disease by positional cloning.

Mercer JF, Livingston J, Hall B, Paynter JA, Begy C, Chandrasekharappa S, Lockhart P, Grimes A, Bhave M, Siemieniak D, et al.

Nat Genet. 1993 Jan;3(1):20-5.

PMID:
8490647
23.
24.

Sequence analysis of linked maize 22 kDa alpha-zein genes.

Thompson GA, Siemieniak DR, Sieu LC, Slightom JL, Larkins BA.

Plant Mol Biol. 1992 Feb;18(4):827-33.

PMID:
1558957
25.

Further characterization of the 5'-flanking DNA of the gene encoding human plasminogen activator inhibitor-1.

Bosma PJ, Kooistra T, Siemieniak DR, Slightom JL.

Gene. 1991 Apr;100:261-6.

PMID:
1905260
26.

Strategy and methods for directly sequencing cosmid clones.

Siemieniak DR, Sieu LC, Slightom JL.

Anal Biochem. 1991 Feb 1;192(2):441-8.

PMID:
2035843
27.

A library of 3342 useful nonamer primers for genome sequencing.

Siemieniak DR, Slightom JL.

Gene. 1990 Nov 30;96(1):121-4.

PMID:
2265749
28.

Watermelon mosaic virus II and zucchini yellow mosaic virus: cloning of 3'-terminal regions, nucleotide sequences, and phylogenetic comparisons.

Quemada H, Sieu LC, Siemieniak DR, Gonsalves D, Slightom JL.

J Gen Virol. 1990 Jul;71 ( Pt 7):1451-60.

PMID:
2374006
29.
30.

Tarsius delta- and beta-globin genes: conversions, evolution, and systematic implications.

Koop BF, Siemieniak D, Slightom JL, Goodman M, Dunbar J, Wright PC, Simons EL.

J Biol Chem. 1989 Jan 5;264(1):68-79.

31.

Human plasminogen activator inhibitor-1 gene. Promoter and structural gene nucleotide sequences.

Bosma PJ, van den Berg EA, Kooistra T, Siemieniak DR, Slightom JL.

J Biol Chem. 1988 Jul 5;263(19):9129-41.

32.

Nucleotide sequence of a mutation in the proB gene of Escherichia coli that confers proline overproduction and enhanced tolerance to osmotic stress.

Csonka LN, Gelvin SB, Goodner BW, Orser CS, Siemieniak D, Slightom JL.

Gene. 1988 Apr 29;64(2):199-205.

PMID:
2841193

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