Steemers F - Search Results

1

Mutation in ST6GALNAC5 identified in family with coronary artery disease.

InanlooRahatloo K, Parsa AF, Huse K, Rasooli P, Davaran S, Platzer M, Kramer M, Fan JB, Turk C, Amini S, Steemers F, Gunderson K, Ronaghi M, Elahi E. InanlooRahatloo K, et al. Among authors: steemers f. Sci Rep. 2014 Jan 8;4:3595. doi: 10.1038/srep03595. Sci Rep. 2014. PMID: 24399302 Free PMC article.

2

Mutation in CYP27A1 identified in family with coronary artery disease.

Inanloorahatloo K, Zand Parsa AF, Huse K, Rasooli P, Davaran S, Platzer M, Fan JB, Amini S, Steemers F, Elahi E. Inanloorahatloo K, et al. Among authors: steemers f. Eur J Med Genet. 2013 Dec;56(12):655-60. doi: 10.1016/j.ejmg.2013.09.008. Epub 2013 Sep 28. Eur J Med Genet. 2013. PMID: 24080357

3

HMSN-P caused by p.Pro285Leu mutation in TFG is not confined to patients with Far East ancestry.

Alavi A, Shamshiri H, Nafissi S, Khani M, Klotzle B, Fan JB, Steemers F, Elahi E. Alavi A, et al. Among authors: steemers f. Neurobiol Aging. 2015 Mar;36(3):1606.e1-7. doi: 10.1016/j.neurobiolaging.2014.11.021. Epub 2014 Dec 16. Neurobiol Aging. 2015. PMID: 25725944

4

Identification of mutation in GTPBP2 in patients of a family with neurodegeneration accompanied by iron deposition in the brain.

Jaberi E, Rohani M, Shahidi GA, Nafissi S, Arefian E, Soleimani M, Rasooli P, Ahmadieh H, Daftarian N, Carrami EM, Klotzle B, Fan JB, Turk C, Steemers F, Elahi E. Jaberi E, et al. Among authors: steemers f. Neurobiol Aging. 2016 Feb;38:216.e11-216.e18. doi: 10.1016/j.neurobiolaging.2015.10.034. Epub 2015 Nov 6. Neurobiol Aging. 2016. PMID: 26675814

5

Mutation in ADORA1 identified as likely cause of early-onset parkinsonism and cognitive dysfunction.

Jaberi E, Rohani M, Shahidi GA, Nafissi S, Arefian E, Soleimani M, Moghadam A, Arzenani MK, Keramatian F, Klotzle B, Fan JB, Turk C, Steemers F, Elahi E. Jaberi E, et al. Among authors: steemers f. Mov Disord. 2016 Jul;31(7):1004-11. doi: 10.1002/mds.26627. Epub 2016 May 2. Mov Disord. 2016. PMID: 27134041 Review.

6

Whole genome genotyping technologies on the BeadArray platform.

Steemers FJ, Gunderson KL. Steemers FJ, et al. Biotechnol J. 2007 Jan;2(1):41-9. doi: 10.1002/biot.200600213. Biotechnol J. 2007. PMID: 17225249

7

Highly parallel oligonucleotide purification and functionalization using reversible chemistry.

York KT, Smith RC, Yang R, Melnyk PC, Wiley MM, Turk CM, Ronaghi M, Gunderson KL, Steemers FJ. York KT, et al. Nucleic Acids Res. 2012 Jan;40(1):e4. doi: 10.1093/nar/gkr910. Epub 2011 Oct 29. Nucleic Acids Res. 2012. PMID: 22039155 Free PMC article.

8

Haplotype-resolved whole-genome sequencing by contiguity-preserving transposition and combinatorial indexing.

Amini S, Pushkarev D, Christiansen L, Kostem E, Royce T, Turk C, Pignatelli N, Adey A, Kitzman JO, Vijayan K, Ronaghi M, Shendure J, Gunderson KL, Steemers FJ. Amini S, et al. Nat Genet. 2014 Dec;46(12):1343-9. doi: 10.1038/ng.3119. Epub 2014 Oct 19. Nat Genet. 2014. PMID: 25326703 Free PMC article.

9

Illumina, Inc.

Steemers FJ, Gunderson KL. Steemers FJ, et al. Pharmacogenomics. 2005 Oct;6(7):777-82. doi: 10.2217/14622416.6.7.777. Pharmacogenomics. 2005. PMID: 16207153

10

In vitro, long-range sequence information for de novo genome assembly via transposase contiguity.

Adey A, Kitzman JO, Burton JN, Daza R, Kumar A, Christiansen L, Ronaghi M, Amini S, Gunderson KL, Steemers FJ, Shendure J. Adey A, et al. Genome Res. 2014 Dec;24(12):2041-9. doi: 10.1101/gr.178319.114. Epub 2014 Oct 19. Genome Res. 2014. PMID: 25327137 Free PMC article.

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