Publications by authors named "Christopher A Tan"

11Publications

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

Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review.

Am J Med Genet A 2016 06 8;170(6):1580-4. Epub 2016 Mar 8.

Department of Pediatrics, Levine Children's Hospital/Carolinas Healthcare System, Charlotte, North Carolina.

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http://dx.doi.org/10.1002/ajmg.a.37611DOI Listing
June 2016

The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing.

Brain Dev 2014 Apr 28;36(4):351-5. Epub 2013 May 28.

Department of Human Genetics, University of Chicago, 5841 S. Maryland Ave, MC 0077, Chicago, IL 60637, USA.

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http://dx.doi.org/10.1016/j.braindev.2013.05.001DOI Listing
April 2014

Expanding newborn screening for lysosomal disorders: opportunities and challenges.

Dev Disabil Res Rev 2011 ;17(1):9-14

Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA.

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http://dx.doi.org/10.1002/ddrr.132DOI Listing
March 2013

Percutaneous closure of perimembranous ventricular septal defect associated with a ventricular septal aneurysm using the Amplatzer ductal occluder.

Catheter Cardiovasc Interv 2005 Nov;66(3):427-31

Division of Cardiology, Mattel Children's Hospital at UCLA, David Geffen School of Medicine at UCLA, Los Angeles, California 90095, USA.

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http://doi.wiley.com/10.1002/ccd.20499
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http://dx.doi.org/10.1002/ccd.20499DOI Listing
November 2005