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Publications Authored by Daniela Macaya | PubFacts
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Publications by authors named "Daniela Macaya"

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High-Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance.

Circ Genom Precis Med 2018 11;11(11):e002345

Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL (C.G.V., R.R.D., K.L.F., S.L.G., F.P., J.-M.D., A.L.G.).

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http://dx.doi.org/10.1161/CIRCGEN.118.002345DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309341PMC
November 2018

Early somatic mosaicism is a rare cause of long-QT syndrome.

Proc Natl Acad Sci U S A 2016 10 28;113(41):11555-11560. Epub 2016 Sep 28.

Stanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, Stanford, CA 94305; Child Health Research Institute, Stanford University School of Medicine, Stanford, CA 94305; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305;

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http://dx.doi.org/10.1073/pnas.1607187113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5068256PMC
October 2016

Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome.

Circ Arrhythm Electrophysiol 2016 06;9(6)

From the Departments of Pharmacology (K.B.), Medicine (J.A.M., A.N.K., C.M.C., M.B.S., D.M.R.), Biomedical Informatics (D.M.R.), Vanderbilt University, Nashville, TN; Departments of Pediatrics (W.K.C.), Medicine (W.K.C.), Columbia University Medical Center, New York, NY; and GeneDx, Gaithersburg, MD (D.M., D.K., E.V.).

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http://dx.doi.org/10.1161/CIRCEP.116.004081DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4905601PMC
June 2016

Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.

Genet Test Mol Biomarkers 2013 Jul 30;17(7):553-61. Epub 2013 Apr 30.

Department of Pediatrics, Columbia University, New York, New York, USA.

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http://dx.doi.org/10.1089/gtmb.2012.0118DOI Listing
July 2013

Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method.

Mol Genet Metab 2009 Jul 1;97(3):212-20. Epub 2009 Apr 1.

Division of Clinical Pharmacology, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Osler 527, Baltimore, MD 21287, USA.

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http://dx.doi.org/10.1016/j.ymgme.2009.03.010DOI Listing
July 2009

Medical errors related to inappropriate genetic testing in liver transplant patients.

Genet Test 2007 ;11(4):451-3

Division of Gastroenterology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1089/gte.2007.0052DOI Listing
May 2008

The incidence of duplicate genetic testing.

Genet Med 2008 Feb;10(2):114-6

Mayo Clinic College of Medicine, Division of Gastroenterology, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1097/GIM.0b013e31816166a7DOI Listing
February 2008