Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 34

1.

NF1 Somatic Mutation in Dystrophic Scoliosis.

Margraf RL, VanSant-Webb C, Mao R, Viskochil DH, Carey J, Hanson H, D'Astous J, Grossmann A, Stevenson DA.

J Mol Neurosci. 2019 May;68(1):11-18. doi: 10.1007/s12031-019-01277-0. Epub 2019 Feb 18.

PMID:
30778836
2.

Novel PLP1 Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes.

Margraf RL, Durtschi J, Krock B, Newcomb TM, Bonkowsky JL, Voelkerding KV, Bayrak-Toydemir P, Lutz RE, Swoboda KJ.

Child Neurol Open. 2018 Jul 23;5:2329048X18789282. doi: 10.1177/2329048X18789282. eCollection 2018.

3.

Utilization of Whole-Exome Next-Generation Sequencing Variant Read Frequency for Detection of Lesion-Specific, Somatic Loss of Heterozygosity in a Neurofibromatosis Type 1 Cohort with Tibial Pseudarthrosis.

Margraf RL, VanSant-Webb C, Sant D, Carey J, Hanson H, D'Astous J, Viskochil D, Stevenson DA, Mao R.

J Mol Diagn. 2017 May;19(3):468-474. doi: 10.1016/j.jmoldx.2017.01.008.

4.

Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1.

Sant DW, Margraf RL, Stevenson DA, Grossmann AH, Viskochil DH, Hanson H, Everitt MD, Rios JJ, Elefteriou F, Hennessey T, Mao R.

J Med Genet. 2015 Apr;52(4):256-61. doi: 10.1136/jmedgenet-2014-102815. Epub 2015 Jan 22.

PMID:
25612910
5.

Neurofibromin deficiency-associated transcriptional dysregulation suggests a novel therapy for tibial pseudoarthrosis in NF1.

Paria N, Cho TJ, Choi IH, Kamiya N, Kayembe K, Mao R, Margraf RL, Obermosser G, Oxendine I, Sant DW, Song MH, Stevenson DA, Viskochil DH, Wise CA, Kim HK, Rios JJ.

J Bone Miner Res. 2014 Dec;29(12):2636-42. doi: 10.1002/jbmr.2298.

6.

A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.

Hu H, Roach JC, Coon H, Guthery SL, Voelkerding KV, Margraf RL, Durtschi JD, Tavtigian SV, Shankaracharya, Wu W, Scheet P, Wang S, Xing J, Glusman G, Hubley R, Li H, Garg V, Moore B, Hood L, Galas DJ, Srivastava D, Reese MG, Jorde LB, Yandell M, Huff CD.

Nat Biotechnol. 2014 Jul;32(7):663-9. doi: 10.1038/nbt.2895. Epub 2014 May 18.

7.

Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families.

Singleton MV, Guthery SL, Voelkerding KV, Chen K, Kennedy B, Margraf RL, Durtschi J, Eilbeck K, Reese MG, Jorde LB, Huff CD, Yandell M.

Am J Hum Genet. 2014 Apr 3;94(4):599-610. doi: 10.1016/j.ajhg.2014.03.010.

8.

VarBin, a novel method for classifying true and false positive variants in NGS data.

Durtschi J, Margraf RL, Coonrod EM, Mallempati KC, Voelkerding KV.

BMC Bioinformatics. 2013;14 Suppl 13:S2. doi: 10.1186/1471-2105-14-S13-S2. Epub 2013 Oct 1.

9.

A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.

Swoboda KJ, Margraf RL, Carey JC, Zhou H, Newcomb TM, Coonrod E, Durtschi J, Mallempati K, Kumanovics A, Katz BE, Voelkerding KV, Opitz JM.

Am J Med Genet A. 2014 Jan;164A(1):17-28. doi: 10.1002/ajmg.a.36189. Epub 2013 Nov 20.

10.

Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency.

Chen K, Coonrod EM, Kumánovics A, Franks ZF, Durtschi JD, Margraf RL, Wu W, Heikal NM, Augustine NH, Ridge PG, Hill HR, Jorde LB, Weyrich AS, Zimmerman GA, Gundlapalli AV, Bohnsack JF, Voelkerding KV.

Am J Hum Genet. 2013 Nov 7;93(5):812-24. doi: 10.1016/j.ajhg.2013.09.009. Epub 2013 Oct 17.

11.

Clinical analysis of genome next-generation sequencing data using the Omicia platform.

Coonrod EM, Margraf RL, Russell A, Voelkerding KV, Reese MG.

Expert Rev Mol Diagn. 2013 Jul;13(6):529-40. doi: 10.1586/14737159.2013.811907.

12.

TACI mutation p.Lys154Ter identified in Good Syndrome.

Margraf RL, Coonrod EM, Durtschi JD, Augustine NH, Voelkerding KV, Hill HR, Kumánovics A.

Clin Immunol. 2013 Jan;146(1):10-2. doi: 10.1016/j.clim.2012.10.006. Epub 2012 Oct 31. No abstract available.

PMID:
23165285
13.

Developing genome and exome sequencing for candidate gene identification in inherited disorders: an integrated technical and bioinformatics approach.

Coonrod EM, Durtschi JD, Margraf RL, Voelkerding KV.

Arch Pathol Lab Med. 2013 Mar;137(3):415-33. doi: 10.5858/arpa.2012-0107-RA. Epub 2012 Jul 7. Review.

PMID:
22770468
14.

Determination of RET Sequence Variation in an MEN2 Unaffected Cohort Using Multiple-Sample Pooling and Next-Generation Sequencing.

Margraf RL, Durtschi JD, Stephens JE, Perez M, Voelkerding KV.

J Thyroid Res. 2012;2012:318232. doi: 10.1155/2012/318232. Epub 2012 Apr 1.

15.

Variant identification in multi-sample pools by illumina genome analyzer sequencing.

Margraf RL, Durtschi JD, Dames S, Pattison DC, Stephens JE, Voelkerding KV.

J Biomol Tech. 2011 Jul;22(2):74-84.

16.

Predicting phenotypic severity of uncertain gene variants in the RET proto-oncogene.

Crockett DK, Piccolo SR, Ridge PG, Margraf RL, Lyon E, Williams MS, Mitchell JA.

PLoS One. 2011 Mar 30;6(3):e18380. doi: 10.1371/journal.pone.0018380.

17.

Translating exome sequencing from research to clinical diagnostics.

Coonrod EM, Margraf RL, Voelkerding KV.

Clin Chem Lab Med. 2011 Dec 23;50(7):1161-8. doi: 10.1515/cclm-2011-0841. Review.

PMID:
22850020
18.

Multi-sample pooling and illumina genome analyzer sequencing methods to determine gene sequence variation for database development.

Margraf RL, Durtschi JD, Dames S, Pattison DC, Stephens JE, Mao R, Voelkerding KV.

J Biomol Tech. 2010 Sep;21(3):126-40.

19.

RET mutation scanning update: exon 15.

Margraf RL, Calderon FR, Mao R, Wittwer CT.

Clin Chem. 2009 Nov;55(11):2059-61. doi: 10.1373/clinchem.2009.132209. Epub 2009 Sep 10. No abstract available.

20.

Multiple endocrine neoplasia type 2 RET protooncogene database: repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations.

Margraf RL, Crockett DK, Krautscheid PM, Seamons R, Calderon FR, Wittwer CT, Mao R.

Hum Mutat. 2009 Apr;30(4):548-56. doi: 10.1002/humu.20928.

PMID:
19177457
21.

Design and application of noncontinuously binding probes used for haplotyping and genotyping.

Pont-Kingdon G, Margraf RL, Sumner K, Millson A, Lyon E, Schütz E.

Clin Chem. 2008 Jun;54(6):990-9. doi: 10.1373/clinchem.2007.100487. Epub 2008 Apr 10.

22.

Rapid diagnosis of MEN2B using unlabeled probe melting analysis and the LightCycler 480 instrument.

Margraf RL, Mao R, Wittwer CT.

J Mol Diagn. 2008 Mar;10(2):123-8. doi: 10.2353/jmoldx.2008.070111. Epub 2008 Feb 7.

23.

Characterization of aberrant melting peaks in unlabeled probe assays.

Dames S, Margraf RL, Pattison DC, Wittwer CT, Voelkerding KV.

J Mol Diagn. 2007 Jul;9(3):290-6.

24.

RET proto-oncogene genotyping using unlabeled probes, the masking technique, and amplicon high-resolution melting analysis.

Margraf RL, Mao R, Highsmith WE, Holtegaard LM, Wittwer CT.

J Mol Diagn. 2007 Apr;9(2):184-96.

25.

Closed-tube SNP genotyping without labeled probes/a comparison between unlabeled probe and amplicon melting.

Liew M, Seipp M, Durtschi J, Margraf RL, Dames S, Erali M, Voelkerding K, Wittwer C.

Am J Clin Pathol. 2007 Mar;127(3):341-8.

PMID:
17276934
26.

Transcriptional control of Pactolus: evidence of a negative control region and comparison with its evolutionary paralogue, CD18 (beta2 integrin).

Hale JS, Dahlem TJ, Margraf RL, Debnath I, Weis JJ, Weis JH.

J Leukoc Biol. 2006 Aug;80(2):383-98. Epub 2006 May 30.

PMID:
16735694
27.

Masking selected sequence variation by incorporating mismatches into melting analysis probes.

Margraf RL, Mao R, Wittwer CT.

Hum Mutat. 2006 Mar;27(3):269-78.

PMID:
16411177
28.

Mutation scanning of the RET protooncogene using high-resolution melting analysis.

Margraf RL, Mao R, Highsmith WE, Holtegaard LM, Wittwer CT.

Clin Chem. 2006 Jan;52(1):138-41.

29.
30.

Single-tube method for nucleic acid extraction, amplification, purification, and sequencing.

Margraf RL, Page S, Erali M, Wittwer CT.

Clin Chem. 2004 Oct;50(10):1755-61. Epub 2004 Aug 12.

31.

Genomic organization, chromosomal localization, and transcriptional variants of the murine Pactolus gene.

Margraf RL, Chen Y, Garrison S, Weis JJ, Weis JH.

Mamm Genome. 1999 Nov;10(11):1075-81.

PMID:
10556426
32.

Localization of a C-terminal region of lambda2 protein in reovirus cores.

Luongo CL, Dryden KA, Farsetta DL, Margraf RL, Severson TF, Olson NH, Fields BN, Baker TS, Nibert ML.

J Virol. 1997 Oct;71(10):8035-40.

33.

Nonrandom segregation of parental alleles in reovirus reassortants.

Nibert ML, Margraf RL, Coombs KM.

J Virol. 1996 Oct;70(10):7295-300.

34.

The deduced Vibrio cholerae RecA amino-acid sequence.

Margraf RL, Roca AI, Cox MM.

Gene. 1995 Jan 11;152(1):135-6.

PMID:
7828921

Supplemental Content

Loading ...
Support Center