Publications by authors named "Joel B Krier"

15Publications

A retrospective study of adult patients with noncirrhotic hyperammonemia.

J Inherit Metab Dis 2020 Jul 26. Epub 2020 Jul 26.

Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/jimd.12292DOI Listing
July 2020

Clinical Reasoning: A 42-year-old woman with progressive cognitive difficulties and gait imbalance.

Neurology 2020 03 27;94(11):e1219-e1226. Epub 2020 Feb 27.

From the Department of Neurology (M.C.C.S., S.M.S., J.S., D.J.K., T.A.M.), Department of Pathology (M.T., U.D.G.), and Division of Genetics (J.B.K.), Department of Medicine, Brigham and Women's Hospital; and Department of Neurology (M.C.C.S., S.M.S., J.S.), Massachusetts General Hospital, Harvard Medical School, Boston.

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http://dx.doi.org/10.1212/WNL.0000000000009099DOI Listing
March 2020

The Undiagnosed Diseases Network as a Tool for Graduate Medical Education.

Am J Med 2020 02 10;133(2):e18-e22. Epub 2019 Jul 10.

Members listed in the Appendix.

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http://dx.doi.org/10.1016/j.amjmed.2019.06.034DOI Listing
February 2020

The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.

Ann Intern Med 2017 08 27;167(3):159-169. Epub 2017 Jun 27.

From VA Boston Healthcare System, Brigham and Women's Hospital, Harvard Medical School, and Partners HealthCare Personalized Medicine, Boston, Massachusetts; Baylor College of Medicine and UTHealth School of Public Health, Houston, Texas; Oregon Health & Science University, Portland, Oregon; Broad Institute of MIT and Harvard, Cambridge, Massachusetts; and Geisinger Health System, Danville, Pennsylvania.

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http://dx.doi.org/10.7326/M17-0188DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5856654PMC
August 2017

Genomic sequencing in clinical practice: applications, challenges, and opportunities.

Dialogues Clin Neurosci 2016 09;18(3):299-312

Genomes2People Research Program, Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA; Harvard Medical School, Boston, Massachusetts, USA; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5067147PMC
September 2016

Management of Incidental Findings in Clinical Genomic Sequencing.

Curr Protoc Hum Genet 2015 Oct 6;87:9.23.1-9.23.16. Epub 2015 Oct 6.

Genomes2People Research Program, Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts.

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http://doi.wiley.com/10.1002/0471142905.hg0923s87
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http://dx.doi.org/10.1002/0471142905.hg0923s87DOI Listing
October 2015

Management of incidental findings in clinical genomic sequencing.

Curr Protoc Hum Genet 2013 ;Chapter 9:Unit9.23

Harvard Medical School Genetics Training Program, Boston, MA, USA.

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http://dx.doi.org/10.1002/0471142905.hg0923s77DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3763715PMC
June 2013

Diagnostic yield and utility of neurovascular ultrasonography in the evaluation of patients with syncope.

Mayo Clin Proc 2005 Apr;80(4):480-8

Division of General Medicine, Brigham and Women's Hospital, Massachusetts General Hospital, Boston 02120-1613, USA.

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http://dx.doi.org/10.4065/80.4.480DOI Listing
April 2005