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Results: 1 to 20 of 46

1.

American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease.

Bean L, Bayrak-Toydemir P.

Genet Med. 2014 Oct 30. doi: 10.1038/gim.2014.146. [Epub ahead of print]

PMID:
25356969
[PubMed - as supplied by publisher]
2.

Noncontinuously binding loop-out primers for avoiding problematic DNA sequences in PCR and sanger sequencing.

Sumner K, Swensen JJ, Procter M, Jama M, Wooderchak-Donahue W, Lewis T, Fong M, Hubley L, Schwarz M, Ha Y, Paul E, Brulotte B, Lyon E, Bayrak-Toydemir P, Mao R, Pont-Kingdon G, Best DH.

J Mol Diagn. 2014 Sep;16(5):477-80. doi: 10.1016/j.jmoldx.2014.04.005. Epub 2014 Jul 9.

PMID:
25017792
[PubMed - in process]
3.

Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing.

Kalman LV, Tarleton JC, Percy AK, Aradhya S, Bale S, Barker SD, Bayrak-Toydemir P, Bridges C, Buller-Burckle AM, Das S, Iyer RK, Vo TD, Zvereff VV, Toji LH.

J Mol Diagn. 2014 Mar;16(2):273-9. doi: 10.1016/j.jmoldx.2013.11.004. Epub 2014 Feb 7.

PMID:
24508304
[PubMed - indexed for MEDLINE]
4.

X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings.

Bissar-Tadmouri N, Donahue WL, Al-Gazali L, Nelson SF, Bayrak-Toydemir P, Kantarci S.

Am J Med Genet A. 2014 Jan;164A(1):164-9.

PMID:
24501762
[PubMed - in process]
5.

VarRanker: rapid prioritization of sequence variations associated with human disease.

O'Fallon BD, Wooderchak-Donahue W, Bayrak-Toydemir P, Crockett D.

BMC Bioinformatics. 2013;14 Suppl 13:S1. doi: 10.1186/1471-2105-14-S13-S1. Epub 2013 Oct 1.

PMID:
24268183
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

EIF2AK4 mutations in pulmonary capillary hemangiomatosis.

Best DH, Sumner KL, Austin ED, Chung WK, Brown LM, Borczuk AC, Rosenzweig EB, Bayrak-Toydemir P, Mao R, Cahill BC, Tazelaar HD, Leslie KO, Hemnes AR, Robbins IM, Elliott CG.

Chest. 2014 Feb;145(2):231-6. doi: 10.1378/chest.13-2366.

PMID:
24135949
[PubMed - indexed for MEDLINE]
7.

BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia.

Wooderchak-Donahue WL, McDonald J, O'Fallon B, Upton PD, Li W, Roman BL, Young S, Plant P, Fülöp GT, Langa C, Morrell NW, Botella LM, Bernabeu C, Stevenson DA, Runo JR, Bayrak-Toydemir P.

Am J Hum Genet. 2013 Sep 5;93(3):530-7. doi: 10.1016/j.ajhg.2013.07.004. Epub 2013 Aug 22.

PMID:
23972370
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

ACMG clinical laboratory standards for next-generation sequencing.

Rehm HL, Bale SJ, Bayrak-Toydemir P, Berg JS, Brown KK, Deignan JL, Friez MJ, Funke BH, Hegde MR, Lyon E; Working Group of the American College of Medical Genetics and Genomics Laboratory Quality Assurance Commitee.

Genet Med. 2013 Sep;15(9):733-47. doi: 10.1038/gim.2013.92. Epub 2013 Jul 25.

PMID:
23887774
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period.

Ridge PG, Miller C, Bayrak-Toydemir P, Best DH, Mao R, Swensen JJ, Lyon E, Voelkerding KV.

J Clin Bioinforma. 2013 Jan 23;3(1):3. doi: 10.1186/2043-9113-3-3.

PMID:
23343000
[PubMed]
Free PMC Article
10.

Novel homozygous CYP1B1 deletion in siblings with primary congenital glaucoma.

Damjanovich K, Baldwin EE, Lewis T, Bayrak-Toydemir P.

Ophthalmic Genet. 2013 Sep;34(3):180-1. doi: 10.3109/13816810.2012.743571. Epub 2012 Dec 6. No abstract available.

PMID:
23215915
[PubMed - indexed for MEDLINE]
11.

A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective.

Wooderchak-Donahue WL, O'Fallon B, Furtado LV, Durtschi JD, Plant P, Ridge PG, Rope AF, Yetman AT, Bayrak-Toydemir P.

BMC Med Genomics. 2012 Nov 14;5:50. doi: 10.1186/1755-8794-5-50.

PMID:
23148498
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Copy number variation analysis in 98 individuals with PHACE syndrome.

Siegel DH, Shieh JT, Kwon EK, Baselga E, Blei F, Cordisco M, Dobyns WB, Duffy KJ, Garzon MC, Gibbs DL, Grimmer JF, Hayflick SJ, Krol AL, Kwok PY, Lorier R, Matter A, McWeeney S, Metry D, Mitchell S, Pope E, Santoro JL, Stevenson DA, Bayrak-Toydemir P, Wilmot B, Worthey EA, Frieden IJ, Drolet BA, Broeckel U.

J Invest Dermatol. 2013 Mar;133(3):677-84. doi: 10.1038/jid.2012.367. Epub 2012 Oct 25.

PMID:
23096700
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Capillary electrophoresis for the detection of Fragile X expanded alleles.

Mao R, Bayrak-Toydemir P, Lyon E.

Methods Mol Biol. 2013;919:275-85. doi: 10.1007/978-1-62703-029-8_24.

PMID:
22976108
[PubMed - indexed for MEDLINE]
14.

Candidate locus analysis for PHACE syndrome.

Mitchell S, Siegel DH, Shieh JT, Stevenson DA, Grimmer JF, Lewis T, Metry D, Frieden I, Blei F, Kayserili H, Drolet BA, Bayrak-Toydemir P.

Am J Med Genet A. 2012 Jun;158A(6):1363-7. doi: 10.1002/ajmg.a.35341. Epub 2012 Apr 27.

PMID:
22544659
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Mosaicism in Stickler syndrome.

Stevenson DA, Vanzo R, Damjanovich K, Hanson H, Muntz H, Hoffman RO, Bayrak-Toydemir P.

Eur J Med Genet. 2012 Jun;55(6-7):418-22. doi: 10.1016/j.ejmg.2012.03.006. Epub 2012 Mar 30.

PMID:
22522174
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Design and analytical validation of clinical DNA sequencing assays.

Pont-Kingdon G, Gedge F, Wooderchak-Donahue W, Schrijver I, Weck KE, Kant JA, Oglesbee D, Bayrak-Toydemir P, Lyon E; Biochemical and Molecular Genetic Resource Committee of the College of American Pathologists.

Arch Pathol Lab Med. 2012 Jan;136(1):41-6. doi: 10.5858/arpa.2010-0623-OA.

PMID:
22208486
[PubMed - indexed for MEDLINE]
17.

RASA1 analysis: clinical and molecular findings in a series of consecutive cases.

Wooderchak-Donahue W, Stevenson DA, McDonald J, Grimmer JF, Gedge F, Bayrak-Toydemir P.

Eur J Med Genet. 2012 Feb;55(2):91-5. doi: 10.1016/j.ejmg.2011.11.008. Epub 2011 Dec 8.

PMID:
22200646
[PubMed - indexed for MEDLINE]
18.

5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia.

Damjanovich K, Langa C, Blanco FJ, McDonald J, Botella LM, Bernabeu C, Wooderchak-Donahue W, Stevenson DA, Bayrak-Toydemir P.

Orphanet J Rare Dis. 2011 Dec 22;6:85. doi: 10.1186/1750-1172-6-85.

PMID:
22192717
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Brain arteriovenous malformation multiplicity predicts the diagnosis of hereditary hemorrhagic telangiectasia: quantitative assessment.

Bharatha A, Faughnan ME, Kim H, Pourmohamad T, Krings T, Bayrak-Toydemir P, Pawlikowska L, McCulloch CE, Lawton MT, Dowd CF, Young WL, Terbrugge KG.

Stroke. 2012 Jan;43(1):72-8. doi: 10.1161/STROKEAHA.111.629865. Epub 2011 Oct 27.

PMID:
22034007
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Hemangioma is associated with atopic disease.

Grimmer JF, Williams MS, Pimentel R, Mineau G, Wood GM, Bayrak-Toydemir P, Stevenson DA.

Otolaryngol Head Neck Surg. 2012 Feb;146(2):206-9. doi: 10.1177/0194599811427242. Epub 2011 Oct 26.

PMID:
22031593
[PubMed - indexed for MEDLINE]

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