Publications by authors named "Julia Platt"

16Publications

A Person-Centered Approach to Cardiovascular Genetic Testing.

Authors:
Julia Platt

Cold Spring Harb Perspect Med 2020 Jul 1;10(7). Epub 2020 Jul 1.

Stanford Center for Inherited Cardiovascular Disease, Falk Cardiovascular Research Center, Stanford, California 94305, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1101/cshperspect.a036624DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7328451PMC
July 2020

Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience.

Genet Med 2018 Mar 14;20(3):369-373. Epub 2017 Dec 14.

Stanford Center for Inherited Cardiovascular Disease, Stanford University, Stanford, California, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2017.212DOI Listing
March 2018

Clinical Characteristics of the N215S Variant and Implications for the Diagnosis and Management of Nonclassic Fabry Disease.

Circ Cardiovasc Genet 2017 10;10(5)

From the Department of Cardiology, Stanford Center for Inherited Cardiovascular Disease, Stanford Health Care, CA (C.R., J.P.); Stanford Center for Undiagnosed Diseases, CA (C.R.); and Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, CA (J.P.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCGENETICS.117.001918DOI Listing
October 2017

Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia.

J Genet Couns 2016 10 14;25(5):936-44. Epub 2015 Dec 14.

Department of Pediatrics, Division of Medical Genetics, Stanford Children's Hospital, Stanford University, Stanford, CA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10897-015-9921-xDOI Listing
October 2016

Clinical whole-exome sequencing: are we there yet?

Genet Med 2014 Sep 13;16(9):717-9. Epub 2014 Feb 13.

Division of Medical Genetics, Stanford University Medical Center, Stanford, California, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2014.10DOI Listing
September 2014

Points to consider in the clinical use of NGS panels for mitochondrial disease: an analysis of gene inclusion and consent forms.

J Genet Couns 2014 Aug 8;23(4):594-603. Epub 2014 Jan 8.

Department of Pediatrics, Lucile Packard Children's Hospital, Stanford University, 300 Pasteur Drive, H-315, Stanford, CA, 94305, USA,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10897-013-9683-2DOI Listing
August 2014

Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle.

Mol Genet Metab 2012 Nov 18;107(3):428-32. Epub 2012 Sep 18.

UC Irvine Cardiogenomics Program, University of California, Irvine, School of Medicine, Irvine, CA 92697‐3940, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2012.09.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3483384PMC
November 2012

Leigh syndrome caused by a novel m.4296G>A mutation in mitochondrial tRNA isoleucine.

Mitochondrion 2012 Mar 29;12(2):258-61. Epub 2011 Sep 29.

Department of Pediatrics, Division of Medical Genetics, Lucile Packard Children's Hospital, Stanford, CA 94305-5208, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mito.2011.09.006DOI Listing
March 2012