Publications by authors named "Rebecca Truty"

18Publications

Incorporating Spinal Muscular Atrophy Analysis by Next-Generation Sequencing into a Comprehensive Multigene Panel for Neuromuscular Disorders.

Genet Test Mol Biomarkers 2020 Oct 23;24(10):616-624. Epub 2020 Jul 23.

Department of Neurology, University of California, Los Angeles, Los Angeles, California, USA.

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http://dx.doi.org/10.1089/gtmb.2019.0282DOI Listing
October 2020

Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders.

Neurol Genet 2020 Apr 9;6(2):e412. Epub 2020 Mar 9.

Invitae Corporation (T.L.W., C.A.T., S.K., H.W., J.M.W., J.Z.W., A.E., R.T., R.L.N., S.A.), San Francisco, CA; Volunteer Faculty (R.L.N.), University of California, San Francisco; and Center for Genetic Medicine (E.M.M.), Northwestern University, Evanston, IL.

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http://dx.doi.org/10.1212/NXG.0000000000000412DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7164976PMC
April 2020

Frequency of Cystic Fibrosis Transmembrane Conductance Regulator Variants in Individuals Evaluated for Primary Ciliary Dyskinesia.

J Pediatr 2019 12 11;215:172-177.e2. Epub 2019 Oct 11.

Division of Pulmonology, Department of Pediatrics, Rainbow Babies and Children's Hospital, University Hospitals Cleveland Medical Center, Cleveland, OH.

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http://dx.doi.org/10.1016/j.jpeds.2019.08.039DOI Listing
December 2019

A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing-Detected Variants with an Orthogonal Method in Clinical Genetic Testing.

J Mol Diagn 2019 03 3;21(2):318-329. Epub 2019 Jan 3.

Laboratory for Molecular Medicine, Partners HealthCare, Cambridge, Massachusetts; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.

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http://dx.doi.org/10.1016/j.jmoldx.2018.10.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6629256PMC
March 2019

Enhancer-promoter interactions are encoded by complex genomic signatures on looping chromatin.

Nat Genet 2016 05 4;48(5):488-96. Epub 2016 Apr 4.

Gladstone Institutes, San Francisco, California, USA.

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http://dx.doi.org/10.1038/ng.3539DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4910881PMC
May 2016

Integrating diverse datasets improves developmental enhancer prediction.

PLoS Comput Biol 2014 Jun 26;10(6):e1003677. Epub 2014 Jun 26.

Center for Human Genetics Research and Department of Biomedical Informatics, Vanderbilt University, Nashville, Tennessee, United States of America.

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http://dx.doi.org/10.1371/journal.pcbi.1003677DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4072507PMC
June 2014

Novel bacterial taxa in the human microbiome.

PLoS One 2012 13;7(6):e35294. Epub 2012 Jun 13.

The Genome Institute, Washington University School of Medicine, St Louis, Missouri, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0035294PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374617PMC
December 2012