Publications by authors named "Amy Knight Johnson"

19Publications

A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an mutation.

Neurol Genet 2019 Oct 23;5(5):e357. Epub 2019 Sep 23.

National Human Genome Research Institute (C.X.), Bethesda, MD; Department of Neurology (C.M.G.), University of Chicago Hospitals, IL; Department of Ophthalmology and Visual Sciences (E.M.B., E.M.S.), University of Iowa; Department Neurology (J.R., B.L.F.), David Geffen School of Medicine, University of California Los Angeles; Department of Genetics (A.K.-J., S.D.), University of Chicago, IL; and Department of Neurology (P.K.), UTSW Medical Center, Dallas, TX.

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http://dx.doi.org/10.1212/NXG.0000000000000357DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6812731PMC
October 2019

GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants.

Diabetes Res Clin Pract 2019 May 4;151:231-236. Epub 2019 May 4.

Section of Adult and Pediatric Endocrinology, Diabetes, and Metabolism, The University of Chicago, 5841 S. Maryland Ave., MC 1027, Chicago, IL 60637, USA.

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http://dx.doi.org/10.1016/j.diabres.2019.04.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6544496PMC
May 2019

Frequency of Germline Mutations in Cancer Susceptibility Genes in Malignant Mesothelioma.

J Clin Oncol 2018 10 16;36(28):2863-2871. Epub 2018 Aug 16.

Vasiliki Panou and Oluf D. Røe, Aalborg University Hospital, Aalborg, Denmark; Meghana Gadiraju, Arthur Wolin, Caroline M. Weipert, Emily Skarda, Aliya N. Husain, Jyoti D. Patel, Buerkley Rose, Shannon R. Zhang, Madison Weatherly, Viswateja Nelakuditi, Amy Knight Johnson, Maria Helgeson, David Fischer, Arpita Desai, Nanna Sulai, Lauren Ritterhouse, Kiran K. Turaga, Dezheng Huo, Jeremy Segal, Sabah Kadri, Zejuan Li, Hedy L. Kindler, and Jane E. Churpek, The University of Chicago, Chicago, IL; Oluf D. Røe, Levanger Hospital, Nord-Trøndelag Hospital Trust, Levanger; and Oluf D. Røe, Norwegian University of Science and Technology, Trondheim, Norway.

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http://ascopubs.org/doi/10.1200/JCO.2018.78.5204
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http://dx.doi.org/10.1200/JCO.2018.78.5204DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804864PMC
October 2018

Alu-mediated deletion of PIGL in a Patient with CHIME syndrome.

Am J Med Genet A 2017 May 28;173(5):1378-1382. Epub 2017 Mar 28.

Department of Human Genetics, University of Chicago, Chicago, Illinois.

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http://dx.doi.org/10.1002/ajmg.a.38181DOI Listing
May 2017

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.

Genet Med 2017 10 16;19(10):1096-1104. Epub 2017 Mar 16.

Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts, USA.

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http://dx.doi.org/10.1038/gim.2017.14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5600649PMC
October 2017

Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX.

Eur J Hum Genet 2016 May 26;24(5):681-9. Epub 2015 Aug 26.

Department of Paediatrics, School of Peadiatrics and Reproductive Health, University of Adelaide, Adelaide, SA, Australia.

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http://dx.doi.org/10.1038/ejhg.2015.176DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4930085PMC
May 2016

Clinical utility of next-generation sequencing for the molecular diagnosis of monogenic diabetes.

Per Med 2014 Mar;11(2):155-165

Department of Human Genetics, University of Chicago, 5841 S Maryland MC0077, Chicago, IL 60637, USA.

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http://dx.doi.org/10.2217/pme.13.111DOI Listing
March 2014