Publications by authors named "Johanna L Schmidt"

18Publications

Genetic counseling for consumer-driven whole exome and whole genome sequencing: A commentary on early experiences.

J Genet Couns 2019 04 12;28(2):449-455. Epub 2019 Mar 12.

GenCipher Genetic Counseling, Princeton, New Jersey.

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http://dx.doi.org/10.1002/jgc4.1109DOI Listing
April 2019

Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.

J Genet Couns 2014 Oct 30;23(5):734-41. Epub 2014 Apr 30.

Department of Neurology, Children's National Medical Center, 111 Michigan Ave. NW, Washington, DC, 20010, USA.

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http://dx.doi.org/10.1007/s10897-014-9720-9DOI Listing
October 2014

Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy.

Pediatr Neurol 2014 Jan 10;50(1):112-4. Epub 2013 Oct 10.

Institute for Molecular Bioscience, University of Queensland, St Lucia, Queensland, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2013.06.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4303471PMC
January 2014

Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies.

J Child Neurol 2014 Feb 7;29(2):214-20. Epub 2013 Oct 7.

1Department of Neuroradiology, Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1177/0883073813503902DOI Listing
February 2014

Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome.

Neurology 2013 Mar 13;80(11):997-1002. Epub 2013 Feb 13.

Center for Genetic Medicine Research, Department of Neurology, Children's National Medical Center, Washington, DC, USA.

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http://dx.doi.org/10.1212/WNL.0b013e3182872694DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3653200PMC
March 2013

Family history of autoimmune disease in patients with Aicardi-Goutières syndrome.

Clin Dev Immunol 2012 11;2012:206730. Epub 2012 Nov 11.

Department of Neurology, Children's National Medical Center, Washington, DC 20010, USA.

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http://dx.doi.org/10.1155/2012/206730DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3508752PMC
August 2013

Relative incidence of inherited white matter disorders in childhood to acquired pediatric demyelinating disorders.

Semin Pediatr Neurol 2012 Dec;19(4):219-23

Department of Neurology, Children's Research Institute, Center for Genetic Medicine, Children's National Medical Center, The George Washington University School of Medicine, Washington, DC 20010, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10719091120007
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http://dx.doi.org/10.1016/j.spen.2012.10.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3797524PMC
December 2012

Genetic testing in child neurology.

Semin Pediatr Neurol 2012 Dec;19(4):167-72

Division of Child Neurology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224, USA.

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http://dx.doi.org/10.1016/j.spen.2012.09.003DOI Listing
December 2012

The impact of false-positive newborn screening results on families: a qualitative study.

Genet Med 2012 Jan;14(1):76-80

Department of Neurology and Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC, USA.

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http://dx.doi.org/10.1038/gim.2011.5DOI Listing
January 2012