Publications by authors named "Weiyi Mu"

18Publications

Adult patients with undiagnosed conditions and their responses to unresolved uncertainty from exome sequencing.

J Genet Couns 2020 Feb 6. Epub 2020 Feb 6.

Department of Health, Behavior, & Society, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland.

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http://dx.doi.org/10.1002/jgc4.1223DOI Listing
February 2020

Relapsing-remitting clinical course expands the phenotype of Aicardi-Goutières syndrome.

Ann Clin Transl Neurol 2020 02 10;7(2):254-258. Epub 2020 Jan 10.

Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland.

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http://dx.doi.org/10.1002/acn3.50979DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7034496PMC
February 2020

A structured genetics rotation for pediatric residents: an important educational opportunity.

Genet Med 2020 04 12;22(4):793-796. Epub 2019 Dec 12.

Department of Pediatrics and McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

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http://dx.doi.org/10.1038/s41436-019-0723-7DOI Listing
April 2020

Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing and .

BMJ Case Rep 2019 May 27;12(5). Epub 2019 May 27.

Departments of Neurology and Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1136/bcr-2018-228782DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6536165PMC
May 2019

Expansion of the clinical spectrum associated with AARS2-related disorders.

Am J Med Genet A 2019 08 17;179(8):1556-1564. Epub 2019 May 17.

Department of Neurogenetics, Hugo W. Moser Research Institute at Kennedy Krieger Institute, Baltimore, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.61188DOI Listing
August 2019

The utility of whole exome sequencing in diagnosing neurological disorders in adults from a highly consanguineous population.

J Neurogenet 2019 03 6;33(1):21-26. Epub 2019 Feb 6.

d Division of Clinical Genetics and Metabolic Disorder , Tawam Hospital , Al-Ain , United Arab Emirates.

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http://dx.doi.org/10.1080/01677063.2018.1555249DOI Listing
March 2019

Characterization of pulmonary arteriovenous malformations in ACVRL1 versus ENG mutation carriers in hereditary hemorrhagic telangiectasia.

Genet Med 2018 Jun 19;20(6):639-644. Epub 2017 Oct 19.

Department of Radiology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2017.160DOI Listing
June 2018

Incontinentia Pigmenti with Persistent Hypercalcemia: Case Report.

Pediatr Dermatol 2016 Sep 14;33(5):e315-7. Epub 2016 Jul 14.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland.

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http://dx.doi.org/10.1111/pde.12925DOI Listing
September 2016

An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis.

Am J Med Genet A 2015 Jul 30;167(7):1644-9. Epub 2015 Mar 30.

Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.37066DOI Listing
July 2015